Incidental Mutation 'R4782:Ptprd'
| ID |
366576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprd
|
| Ensembl Gene |
ENSMUSG00000028399 |
| Gene Name |
protein tyrosine phosphatase receptor type D |
| Synonyms |
1110002J03Rik, B230219D21Rik, 3000002J10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4782 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
75859475-78130198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76009769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 764
(I764T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050757]
[ENSMUST00000098005]
[ENSMUST00000102834]
[ENSMUST00000107289]
[ENSMUST00000173376]
[ENSMUST00000174023]
[ENSMUST00000174180]
[ENSMUST00000174831]
[ENSMUST00000174531]
|
| AlphaFold |
Q64487 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050757
|
| SMART Domains |
Protein: ENSMUSP00000058466
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
|
IGc2
|
238 |
299 |
8.13e-4 |
SMART |
|
FN3
|
313 |
392 |
7.92e-14 |
SMART |
|
FN3
|
408 |
491 |
5.73e-11 |
SMART |
|
IG_like
|
499 |
593 |
8.34e1 |
SMART |
|
FN3
|
506 |
584 |
9.1e-14 |
SMART |
|
FN3
|
597 |
674 |
1.21e0 |
SMART |
|
transmembrane domain
|
847 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
882 |
N/A |
INTRINSIC |
|
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
|
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098005
|
| SMART Domains |
Protein: ENSMUSP00000095614
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
|
FN3
|
323 |
402 |
7.92e-14 |
SMART |
|
FN3
|
418 |
501 |
5.73e-11 |
SMART |
|
IG_like
|
509 |
603 |
8.34e1 |
SMART |
|
FN3
|
516 |
594 |
9.1e-14 |
SMART |
|
FN3
|
607 |
684 |
1.21e0 |
SMART |
|
transmembrane domain
|
857 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
897 |
N/A |
INTRINSIC |
|
PTPc
|
950 |
1208 |
6.38e-134 |
SMART |
|
PTPc
|
1237 |
1499 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102834
|
| SMART Domains |
Protein: ENSMUSP00000099898
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
1 |
62 |
8.13e-4 |
SMART |
|
FN3
|
76 |
155 |
7.92e-14 |
SMART |
|
FN3
|
171 |
254 |
5.73e-11 |
SMART |
|
IG_like
|
262 |
356 |
8.34e1 |
SMART |
|
FN3
|
269 |
347 |
9.1e-14 |
SMART |
|
FN3
|
360 |
437 |
1.21e0 |
SMART |
|
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
645 |
N/A |
INTRINSIC |
|
PTPc
|
698 |
956 |
6.38e-134 |
SMART |
|
PTPc
|
985 |
1247 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107289
AA Change: I786T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102910
Gene: ENSMUSG00000028399
AA Change: I786T
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
|
FN3
|
323 |
402 |
7.92e-14 |
SMART |
|
FN3
|
418 |
501 |
5.73e-11 |
SMART |
|
IG_like
|
509 |
603 |
8.34e1 |
SMART |
|
FN3
|
516 |
594 |
9.1e-14 |
SMART |
|
FN3
|
609 |
696 |
2.72e-12 |
SMART |
|
FN3
|
712 |
809 |
2.87e-11 |
SMART |
|
FN3
|
824 |
904 |
4.96e-6 |
SMART |
|
FN3
|
919 |
1003 |
4.12e-12 |
SMART |
|
FN3
|
1018 |
1095 |
1.95e0 |
SMART |
|
transmembrane domain
|
1268 |
1290 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1303 |
N/A |
INTRINSIC |
|
PTPc
|
1356 |
1614 |
6.38e-134 |
SMART |
|
PTPc
|
1643 |
1905 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173376
|
| SMART Domains |
Protein: ENSMUSP00000133468
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
43 |
112 |
8.57e-12 |
SMART |
|
IGc2
|
145 |
221 |
8.5e-16 |
SMART |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
IGc2
|
255 |
316 |
8.13e-4 |
SMART |
|
FN3
|
330 |
409 |
7.92e-14 |
SMART |
|
FN3
|
425 |
508 |
5.73e-11 |
SMART |
|
IG_like
|
516 |
610 |
8.34e1 |
SMART |
|
FN3
|
523 |
601 |
9.1e-14 |
SMART |
|
FN3
|
614 |
691 |
1.21e0 |
SMART |
|
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
899 |
N/A |
INTRINSIC |
|
PTPc
|
952 |
1210 |
6.38e-134 |
SMART |
|
PTPc
|
1239 |
1501 |
9.17e-135 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173560
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174023
|
| SMART Domains |
Protein: ENSMUSP00000133562
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
211 |
4.88e-16 |
SMART |
|
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
|
IGc2
|
245 |
306 |
8.13e-4 |
SMART |
|
FN3
|
320 |
399 |
7.92e-14 |
SMART |
|
FN3
|
415 |
498 |
5.73e-11 |
SMART |
|
IG_like
|
506 |
600 |
8.34e1 |
SMART |
|
FN3
|
513 |
591 |
9.1e-14 |
SMART |
|
FN3
|
604 |
681 |
1.21e0 |
SMART |
|
transmembrane domain
|
853 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
893 |
N/A |
INTRINSIC |
|
PTPc
|
946 |
1204 |
6.38e-134 |
SMART |
|
PTPc
|
1233 |
1495 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174180
AA Change: I764T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000133973
Gene: ENSMUSG00000028399
AA Change: I764T
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
205 |
2.09e-15 |
SMART |
|
IGc2
|
235 |
296 |
8.13e-4 |
SMART |
|
FN3
|
310 |
389 |
7.92e-14 |
SMART |
|
FN3
|
405 |
488 |
5.73e-11 |
SMART |
|
IG_like
|
496 |
590 |
8.34e1 |
SMART |
|
FN3
|
503 |
581 |
9.1e-14 |
SMART |
|
FN3
|
596 |
683 |
2.72e-12 |
SMART |
|
FN3
|
699 |
787 |
6.15e-11 |
SMART |
|
FN3
|
802 |
882 |
4.96e-6 |
SMART |
|
FN3
|
897 |
981 |
4.12e-12 |
SMART |
|
FN3
|
996 |
1073 |
1.95e0 |
SMART |
|
transmembrane domain
|
1246 |
1268 |
N/A |
INTRINSIC |
|
low complexity region
|
1269 |
1281 |
N/A |
INTRINSIC |
|
PTPc
|
1334 |
1592 |
6.38e-134 |
SMART |
|
PTPc
|
1621 |
1883 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174831
|
| SMART Domains |
Protein: ENSMUSP00000133328
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
|
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
|
FN3
|
323 |
402 |
7.92e-14 |
SMART |
|
FN3
|
418 |
501 |
5.73e-11 |
SMART |
|
IG_like
|
509 |
603 |
8.34e1 |
SMART |
|
FN3
|
516 |
594 |
9.1e-14 |
SMART |
|
FN3
|
607 |
684 |
1.21e0 |
SMART |
|
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
|
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
|
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174531
|
| SMART Domains |
Protein: ENSMUSP00000134229
Gene: ENSMUSG00000028399
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
|
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
|
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
|
IGc2
|
242 |
303 |
8.13e-4 |
SMART |
|
FN3
|
317 |
396 |
7.92e-14 |
SMART |
|
FN3
|
412 |
495 |
5.73e-11 |
SMART |
|
IG_like
|
503 |
597 |
8.34e1 |
SMART |
|
FN3
|
510 |
588 |
9.1e-14 |
SMART |
|
FN3
|
601 |
678 |
1.21e0 |
SMART |
|
transmembrane domain
|
851 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
874 |
886 |
N/A |
INTRINSIC |
|
PTPc
|
939 |
1197 |
6.38e-134 |
SMART |
|
PTPc
|
1226 |
1488 |
9.17e-135 |
SMART |
|
| Meta Mutation Damage Score |
0.0709 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted(4) Gene trapped(5)
|
| Other mutations in this stock |
Total: 121 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,278,096 (GRCm39) |
E3092G |
probably damaging |
Het |
| Abhd12b |
C |
G |
12: 70,215,838 (GRCm39) |
S170C |
probably damaging |
Het |
| Abtb2 |
A |
T |
2: 103,547,644 (GRCm39) |
D1006V |
probably benign |
Het |
| Abtb3 |
A |
C |
10: 85,490,414 (GRCm39) |
I1027L |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,662,202 (GRCm39) |
H1021R |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,241,665 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,863 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
CA |
C |
12: 52,934,406 (GRCm39) |
|
probably null |
Het |
| Amotl2 |
T |
G |
9: 102,597,322 (GRCm39) |
|
probably null |
Het |
| Ankrd34b |
T |
A |
13: 92,574,813 (GRCm39) |
I15N |
probably damaging |
Het |
| Ap3d1 |
C |
T |
10: 80,557,420 (GRCm39) |
|
probably null |
Het |
| Appl2 |
A |
T |
10: 83,436,855 (GRCm39) |
D635E |
probably damaging |
Het |
| Arid1b |
C |
T |
17: 5,389,496 (GRCm39) |
P1681S |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,440,843 (GRCm39) |
M496T |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,475,891 (GRCm39) |
K595E |
probably damaging |
Het |
| Atpaf2 |
T |
C |
11: 60,295,238 (GRCm39) |
H204R |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,744,850 (GRCm39) |
V56I |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,991,006 (GRCm39) |
T183I |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,098,203 (GRCm39) |
D965G |
possibly damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,599,253 (GRCm39) |
E689D |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,503,613 (GRCm39) |
Q346L |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,748,773 (GRCm39) |
V281A |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,134,184 (GRCm39) |
M721K |
possibly damaging |
Het |
| Col22a1 |
T |
A |
15: 71,673,774 (GRCm39) |
T981S |
unknown |
Het |
| Cpox |
G |
A |
16: 58,492,986 (GRCm39) |
A207T |
probably damaging |
Het |
| Cym |
G |
A |
3: 107,123,413 (GRCm39) |
T160I |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,062,023 (GRCm39) |
I664T |
probably damaging |
Het |
| Ddx4 |
C |
T |
13: 112,750,230 (GRCm39) |
|
probably null |
Het |
| Ddx4 |
A |
T |
13: 112,787,894 (GRCm39) |
V15E |
probably benign |
Het |
| Depdc1a |
G |
A |
3: 159,232,273 (GRCm39) |
E675K |
probably damaging |
Het |
| Dglucy |
A |
T |
12: 100,816,602 (GRCm39) |
M415L |
probably benign |
Het |
| Dlg4 |
C |
T |
11: 69,917,780 (GRCm39) |
P21L |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 49,996,059 (GRCm39) |
N395I |
probably damaging |
Het |
| Dzank1 |
A |
T |
2: 144,346,319 (GRCm39) |
C249S |
probably damaging |
Het |
| Efnb2 |
A |
T |
8: 8,673,104 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
T |
G |
13: 63,982,552 (GRCm39) |
I244S |
probably damaging |
Het |
| Ewsr1 |
A |
T |
11: 5,020,423 (GRCm39) |
M584K |
unknown |
Het |
| Fam193b |
A |
G |
13: 55,691,284 (GRCm39) |
S197P |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,014,941 (GRCm39) |
V689A |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,279,178 (GRCm39) |
Y436* |
probably null |
Het |
| Fbxo31 |
A |
G |
8: 122,279,180 (GRCm39) |
Y436H |
probably damaging |
Het |
| Fcna |
T |
A |
2: 25,515,338 (GRCm39) |
D215V |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,478,857 (GRCm39) |
S438C |
unknown |
Het |
| Gcm2 |
T |
C |
13: 41,256,970 (GRCm39) |
K260E |
possibly damaging |
Het |
| Gcnt4 |
A |
T |
13: 97,083,914 (GRCm39) |
L403F |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,653,870 (GRCm39) |
T126A |
probably benign |
Het |
| Ggcx |
A |
G |
6: 72,405,875 (GRCm39) |
K569E |
probably benign |
Het |
| Gm10250 |
C |
T |
15: 5,150,578 (GRCm39) |
|
probably benign |
Het |
| Gpnmb |
G |
T |
6: 49,022,417 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
G |
A |
3: 151,451,229 (GRCm39) |
P241S |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,265,184 (GRCm39) |
T1011A |
probably benign |
Het |
| Jag2 |
A |
T |
12: 112,877,869 (GRCm39) |
S595T |
probably benign |
Het |
| Kif5a |
T |
A |
10: 127,066,823 (GRCm39) |
Q960L |
probably benign |
Het |
| Kifc2 |
A |
G |
15: 76,548,548 (GRCm39) |
E430G |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,544,627 (GRCm39) |
C323* |
probably null |
Het |
| Lgsn |
T |
C |
1: 31,242,823 (GRCm39) |
Y302H |
probably benign |
Het |
| Lmbrd1 |
G |
A |
1: 24,784,056 (GRCm39) |
|
probably null |
Het |
| Lrpap1 |
A |
G |
5: 35,256,622 (GRCm39) |
V120A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,858 (GRCm39) |
D46E |
possibly damaging |
Het |
| Mbd4 |
C |
A |
6: 115,822,283 (GRCm39) |
R63L |
possibly damaging |
Het |
| Mfsd10 |
T |
C |
5: 34,792,293 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
G |
T |
4: 155,744,229 (GRCm39) |
S144R |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
| Ndufs1 |
C |
A |
1: 63,200,108 (GRCm39) |
G268V |
probably damaging |
Het |
| Nfs1 |
A |
G |
2: 155,976,369 (GRCm39) |
V175A |
possibly damaging |
Het |
| Ngb |
G |
A |
12: 87,146,999 (GRCm39) |
H73Y |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,117,652 (GRCm39) |
T549I |
probably damaging |
Het |
| Nr1h2 |
A |
G |
7: 44,199,923 (GRCm39) |
V329A |
possibly damaging |
Het |
| Nsun6 |
T |
C |
2: 15,041,137 (GRCm39) |
I151M |
possibly damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,155,368 (GRCm39) |
|
probably null |
Het |
| Or1e31 |
C |
T |
11: 73,689,665 (GRCm39) |
C306Y |
probably benign |
Het |
| Or2y16 |
T |
A |
11: 49,334,696 (GRCm39) |
F6Y |
probably benign |
Het |
| Or2z8 |
A |
G |
8: 72,811,938 (GRCm39) |
N138S |
probably benign |
Het |
| Or51h1 |
T |
A |
7: 102,308,041 (GRCm39) |
N4K |
possibly damaging |
Het |
| Or5an1c |
C |
T |
19: 12,218,936 (GRCm39) |
V30I |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,450,371 (GRCm39) |
Y60C |
probably damaging |
Het |
| Parp6 |
A |
G |
9: 59,542,267 (GRCm39) |
|
probably null |
Het |
| Pcnt |
C |
A |
10: 76,245,411 (GRCm39) |
R1075S |
possibly damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,133,757 (GRCm39) |
E548G |
probably damaging |
Het |
| Polrmt |
G |
T |
10: 79,575,357 (GRCm39) |
H725N |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,051,153 (GRCm39) |
T178A |
probably damaging |
Het |
| Prtn3 |
C |
A |
10: 79,717,899 (GRCm39) |
P169H |
probably damaging |
Het |
| Ptprh |
A |
T |
7: 4,572,576 (GRCm39) |
H467Q |
probably benign |
Het |
| Raph1 |
A |
T |
1: 60,528,273 (GRCm39) |
I996N |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,120,083 (GRCm39) |
W53* |
probably null |
Het |
| Rasgrp1 |
C |
T |
2: 117,115,356 (GRCm39) |
R744Q |
probably benign |
Het |
| Rmnd5a |
T |
C |
6: 71,390,333 (GRCm39) |
E141G |
probably damaging |
Het |
| Rps12 |
T |
C |
10: 23,662,688 (GRCm39) |
I51M |
possibly damaging |
Het |
| Scn10a |
T |
G |
9: 119,451,976 (GRCm39) |
S1316R |
possibly damaging |
Het |
| Sdhb |
A |
G |
4: 140,704,777 (GRCm39) |
H246R |
possibly damaging |
Het |
| Setx |
G |
A |
2: 29,034,058 (GRCm39) |
R332Q |
probably damaging |
Het |
| Siglec1 |
A |
C |
2: 130,917,843 (GRCm39) |
S1011R |
probably damaging |
Het |
| Sin3b |
A |
C |
8: 73,452,271 (GRCm39) |
I126L |
probably benign |
Het |
| Slc11a1 |
T |
G |
1: 74,423,247 (GRCm39) |
L366R |
probably damaging |
Het |
| Slc12a1 |
C |
T |
2: 125,002,999 (GRCm39) |
R177* |
probably null |
Het |
| Slc30a1 |
A |
C |
1: 191,641,160 (GRCm39) |
K269Q |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,194,533 (GRCm39) |
Y370C |
possibly damaging |
Het |
| Slf2 |
T |
A |
19: 44,923,364 (GRCm39) |
|
probably null |
Het |
| Sltm |
A |
G |
9: 70,496,339 (GRCm39) |
H958R |
probably damaging |
Het |
| Snrnp40 |
A |
G |
4: 130,256,549 (GRCm39) |
I91M |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,058,232 (GRCm39) |
Q1900L |
probably benign |
Het |
| Srgn |
C |
T |
10: 62,333,631 (GRCm39) |
E49K |
possibly damaging |
Het |
| Ssu2 |
A |
C |
6: 112,353,411 (GRCm39) |
C238G |
probably damaging |
Het |
| Terf2 |
G |
T |
8: 107,803,307 (GRCm39) |
H425Q |
probably benign |
Het |
| Thra |
G |
A |
11: 98,646,990 (GRCm39) |
S37N |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,610,845 (GRCm39) |
D246G |
probably damaging |
Het |
| Ubap2l |
G |
A |
3: 89,928,210 (GRCm39) |
T553M |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 120,667,930 (GRCm39) |
Y77C |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,813 (GRCm39) |
T123A |
probably damaging |
Het |
| Vmn1r204 |
T |
G |
13: 22,740,867 (GRCm39) |
F166C |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,369,370 (GRCm39) |
I68V |
probably benign |
Het |
| Wls |
C |
T |
3: 159,603,082 (GRCm39) |
T165I |
probably benign |
Het |
| Wsb1 |
A |
G |
11: 79,131,199 (GRCm39) |
M399T |
probably benign |
Het |
| Xbp1 |
C |
T |
11: 5,471,167 (GRCm39) |
T58M |
probably damaging |
Het |
| Zbtb46 |
A |
T |
2: 181,032,929 (GRCm39) |
D577E |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,382,991 (GRCm39) |
D718G |
probably damaging |
Het |
| Zfp408 |
A |
T |
2: 91,475,369 (GRCm39) |
V595E |
possibly damaging |
Het |
| Zfp493 |
T |
A |
13: 67,934,322 (GRCm39) |
W60R |
probably null |
Het |
| Zfp606 |
A |
T |
7: 12,227,932 (GRCm39) |
K626N |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,037,966 (GRCm39) |
L454Q |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,830,169 (GRCm39) |
I515V |
probably benign |
Het |
|
| Other mutations in Ptprd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Ptprd
|
APN |
4 |
75,916,793 (GRCm39) |
nonsense |
probably null |
|
|
IGL01067:Ptprd
|
APN |
4 |
75,977,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01121:Ptprd
|
APN |
4 |
75,872,438 (GRCm39) |
splice site |
probably benign |
|
|
IGL01531:Ptprd
|
APN |
4 |
76,003,757 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01661:Ptprd
|
APN |
4 |
75,872,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01723:Ptprd
|
APN |
4 |
76,161,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01735:Ptprd
|
APN |
4 |
76,055,057 (GRCm39) |
splice site |
probably null |
|
|
IGL01810:Ptprd
|
APN |
4 |
76,058,744 (GRCm39) |
splice site |
probably benign |
|
|
IGL01834:Ptprd
|
APN |
4 |
76,046,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01835:Ptprd
|
APN |
4 |
76,165,058 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01867:Ptprd
|
APN |
4 |
76,161,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Ptprd
|
APN |
4 |
75,865,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02591:Ptprd
|
APN |
4 |
75,900,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Ptprd
|
APN |
4 |
76,051,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02866:Ptprd
|
APN |
4 |
75,968,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02960:Ptprd
|
APN |
4 |
76,047,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03155:Ptprd
|
APN |
4 |
75,984,456 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03230:Ptprd
|
APN |
4 |
75,968,654 (GRCm39) |
nonsense |
probably null |
|
|
IGL03343:Ptprd
|
APN |
4 |
75,977,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
unhurried
|
UTSW |
4 |
76,018,870 (GRCm39) |
nonsense |
probably null |
|
|
ANU22:Ptprd
|
UTSW |
4 |
76,018,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F5493:Ptprd
|
UTSW |
4 |
76,002,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Ptprd
|
UTSW |
4 |
76,047,091 (GRCm39) |
nonsense |
probably null |
|
|
R0044:Ptprd
|
UTSW |
4 |
76,004,566 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0044:Ptprd
|
UTSW |
4 |
76,004,566 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0076:Ptprd
|
UTSW |
4 |
75,865,276 (GRCm39) |
splice site |
probably benign |
|
|
R0137:Ptprd
|
UTSW |
4 |
76,055,140 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0358:Ptprd
|
UTSW |
4 |
75,863,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Ptprd
|
UTSW |
4 |
76,055,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Ptprd
|
UTSW |
4 |
76,046,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Ptprd
|
UTSW |
4 |
76,018,711 (GRCm39) |
missense |
probably benign |
|
|
R0646:Ptprd
|
UTSW |
4 |
76,002,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0667:Ptprd
|
UTSW |
4 |
75,875,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:Ptprd
|
UTSW |
4 |
75,875,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0734:Ptprd
|
UTSW |
4 |
76,058,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0827:Ptprd
|
UTSW |
4 |
76,047,152 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0932:Ptprd
|
UTSW |
4 |
76,055,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1069:Ptprd
|
UTSW |
4 |
76,018,870 (GRCm39) |
nonsense |
probably null |
|
|
R1069:Ptprd
|
UTSW |
4 |
75,916,724 (GRCm39) |
splice site |
probably benign |
|
|
R1086:Ptprd
|
UTSW |
4 |
76,051,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Ptprd
|
UTSW |
4 |
75,984,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Ptprd
|
UTSW |
4 |
76,002,789 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1688:Ptprd
|
UTSW |
4 |
75,900,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Ptprd
|
UTSW |
4 |
75,865,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Ptprd
|
UTSW |
4 |
75,872,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Ptprd
|
UTSW |
4 |
76,051,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Ptprd
|
UTSW |
4 |
75,875,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2413:Ptprd
|
UTSW |
4 |
76,051,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Ptprd
|
UTSW |
4 |
76,004,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2914:Ptprd
|
UTSW |
4 |
75,865,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2971:Ptprd
|
UTSW |
4 |
76,025,561 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3051:Ptprd
|
UTSW |
4 |
76,018,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3433:Ptprd
|
UTSW |
4 |
76,004,248 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3964:Ptprd
|
UTSW |
4 |
75,978,073 (GRCm39) |
splice site |
probably benign |
|
|
R4009:Ptprd
|
UTSW |
4 |
75,874,634 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4394:Ptprd
|
UTSW |
4 |
76,046,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4420:Ptprd
|
UTSW |
4 |
75,957,614 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4424:Ptprd
|
UTSW |
4 |
76,021,200 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4575:Ptprd
|
UTSW |
4 |
76,162,023 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4578:Ptprd
|
UTSW |
4 |
76,162,023 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4715:Ptprd
|
UTSW |
4 |
76,025,570 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4785:Ptprd
|
UTSW |
4 |
76,058,790 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4799:Ptprd
|
UTSW |
4 |
76,009,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4944:Ptprd
|
UTSW |
4 |
76,047,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4950:Ptprd
|
UTSW |
4 |
76,058,752 (GRCm39) |
splice site |
probably null |
|
|
R4969:Ptprd
|
UTSW |
4 |
76,051,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Ptprd
|
UTSW |
4 |
75,930,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5164:Ptprd
|
UTSW |
4 |
76,018,995 (GRCm39) |
splice site |
probably null |
|
|
R5287:Ptprd
|
UTSW |
4 |
75,872,405 (GRCm39) |
nonsense |
probably null |
|
|
R5305:Ptprd
|
UTSW |
4 |
75,900,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Ptprd
|
UTSW |
4 |
76,047,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Ptprd
|
UTSW |
4 |
75,872,405 (GRCm39) |
nonsense |
probably null |
|
|
R5531:Ptprd
|
UTSW |
4 |
75,977,904 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5543:Ptprd
|
UTSW |
4 |
75,977,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5634:Ptprd
|
UTSW |
4 |
75,990,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5719:Ptprd
|
UTSW |
4 |
75,972,839 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5884:Ptprd
|
UTSW |
4 |
75,900,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Ptprd
|
UTSW |
4 |
75,984,528 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6250:Ptprd
|
UTSW |
4 |
76,047,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6335:Ptprd
|
UTSW |
4 |
75,872,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6352:Ptprd
|
UTSW |
4 |
76,009,789 (GRCm39) |
splice site |
probably null |
|
|
R6533:Ptprd
|
UTSW |
4 |
76,046,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6756:Ptprd
|
UTSW |
4 |
75,873,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6782:Ptprd
|
UTSW |
4 |
76,243,377 (GRCm39) |
splice site |
probably null |
|
|
R7131:Ptprd
|
UTSW |
4 |
75,984,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Ptprd
|
UTSW |
4 |
75,990,199 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7233:Ptprd
|
UTSW |
4 |
75,978,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7246:Ptprd
|
UTSW |
4 |
76,046,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7413:Ptprd
|
UTSW |
4 |
76,165,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Ptprd
|
UTSW |
4 |
76,004,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7442:Ptprd
|
UTSW |
4 |
75,978,058 (GRCm39) |
nonsense |
probably null |
|
|
R7491:Ptprd
|
UTSW |
4 |
76,051,392 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7526:Ptprd
|
UTSW |
4 |
75,984,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7609:Ptprd
|
UTSW |
4 |
75,990,240 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7612:Ptprd
|
UTSW |
4 |
76,004,696 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7659:Ptprd
|
UTSW |
4 |
76,047,153 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7743:Ptprd
|
UTSW |
4 |
76,004,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Ptprd
|
UTSW |
4 |
76,017,741 (GRCm39) |
missense |
probably null |
0.39 |
|
R7788:Ptprd
|
UTSW |
4 |
75,916,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7836:Ptprd
|
UTSW |
4 |
75,900,881 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7937:Ptprd
|
UTSW |
4 |
76,013,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8000:Ptprd
|
UTSW |
4 |
75,984,479 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8018:Ptprd
|
UTSW |
4 |
76,003,757 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8072:Ptprd
|
UTSW |
4 |
76,004,273 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8119:Ptprd
|
UTSW |
4 |
76,047,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Ptprd
|
UTSW |
4 |
75,868,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8387:Ptprd
|
UTSW |
4 |
75,873,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Ptprd
|
UTSW |
4 |
75,984,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8529:Ptprd
|
UTSW |
4 |
76,047,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Ptprd
|
UTSW |
4 |
75,959,629 (GRCm39) |
missense |
probably benign |
|
|
R8924:Ptprd
|
UTSW |
4 |
75,916,736 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8984:Ptprd
|
UTSW |
4 |
75,863,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9024:Ptprd
|
UTSW |
4 |
75,874,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9204:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9206:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9259:Ptprd
|
UTSW |
4 |
75,990,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9311:Ptprd
|
UTSW |
4 |
76,051,320 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9417:Ptprd
|
UTSW |
4 |
75,865,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9427:Ptprd
|
UTSW |
4 |
76,051,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9579:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9580:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9701:Ptprd
|
UTSW |
4 |
75,916,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF016:Ptprd
|
UTSW |
4 |
76,046,892 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF023:Ptprd
|
UTSW |
4 |
76,046,802 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Ptprd
|
UTSW |
4 |
76,051,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCAGTCTATTTTCTCTCAGTG -3'
(R):5'- GAGGATGCTCGAATATCCCCAAC -3'
Sequencing Primer
(F):5'- CACAGAAGACATTACCTGC -3'
(R):5'- GATGCTCGAATATCCCCAACTTCAC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation