Incidental Mutation 'R4969:Ptprd'
| ID |
384255 |
| 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 # |
R4969 (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 76051542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 227
(I227T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050757]
[ENSMUST00000098005]
[ENSMUST00000102834]
[ENSMUST00000107289]
[ENSMUST00000173376]
[ENSMUST00000174023]
[ENSMUST00000174180]
[ENSMUST00000174531]
[ENSMUST00000174831]
[ENSMUST00000174832]
|
| AlphaFold |
Q64487 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050757
AA Change: I230T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000058466
Gene: ENSMUSG00000028399
AA Change: I230T
| 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 damaging
Transcript: ENSMUST00000098005
AA Change: I240T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095614
Gene: ENSMUSG00000028399
AA Change: I240T
| 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 |
possibly damaging
Transcript: ENSMUST00000107289
AA Change: I240T
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102910
Gene: ENSMUSG00000028399
AA Change: I240T
| 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
AA Change: I247T
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133468
Gene: ENSMUSG00000028399
AA Change: I247T
| 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 |
probably benign
Transcript: ENSMUST00000174023
AA Change: I237T
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133562
Gene: ENSMUSG00000028399
AA Change: I237T
| 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 damaging
Transcript: ENSMUST00000174180
AA Change: I227T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133973
Gene: ENSMUSG00000028399
AA Change: I227T
| 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 |
possibly damaging
Transcript: ENSMUST00000174531
AA Change: I234T
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134229
Gene: ENSMUSG00000028399
AA Change: I234T
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174831
AA Change: I240T
PolyPhen 2
Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000133328
Gene: ENSMUSG00000028399
AA Change: I240T
| 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: ENSMUST00000174832
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,754,943 (GRCm39) |
I1525T |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,392 (GRCm39) |
V476A |
probably benign |
Het |
| Aipl1 |
A |
G |
11: 71,922,256 (GRCm39) |
I151T |
probably benign |
Het |
| Apc |
C |
T |
18: 34,445,971 (GRCm39) |
R938* |
probably null |
Het |
| Atp2a2 |
A |
G |
5: 122,596,554 (GRCm39) |
F855S |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,223,075 (GRCm39) |
T261A |
possibly damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,365,900 (GRCm39) |
D370G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,736,025 (GRCm39) |
I2964V |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,386,375 (GRCm39) |
V158A |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,741,806 (GRCm39) |
T2371I |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,503,929 (GRCm39) |
T79A |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,780,413 (GRCm39) |
R145G |
probably damaging |
Het |
| Disc1 |
G |
A |
8: 125,851,289 (GRCm39) |
W391* |
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,941,988 (GRCm39) |
V1745I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,376,886 (GRCm39) |
V1557A |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,637,145 (GRCm39) |
Y194N |
probably damaging |
Het |
| Eif4a3 |
A |
G |
11: 119,179,705 (GRCm39) |
Y361H |
probably damaging |
Het |
| Esd |
T |
A |
14: 74,982,153 (GRCm39) |
S189R |
possibly damaging |
Het |
| Fancf |
A |
T |
7: 51,511,196 (GRCm39) |
Y269* |
probably null |
Het |
| Fbln2 |
A |
T |
6: 91,248,569 (GRCm39) |
H1078L |
possibly damaging |
Het |
| Fbxw13 |
A |
G |
9: 109,010,592 (GRCm39) |
|
probably null |
Het |
| Fcgr2b |
A |
T |
1: 170,790,941 (GRCm39) |
V284D |
probably benign |
Het |
| Fuz |
G |
A |
7: 44,549,718 (GRCm39) |
G363R |
probably damaging |
Het |
| Gas7 |
A |
G |
11: 67,574,234 (GRCm39) |
E403G |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,291,581 (GRCm39) |
D49G |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,214,445 (GRCm39) |
V561A |
probably benign |
Het |
| H1f7 |
A |
T |
15: 98,154,216 (GRCm39) |
V311E |
unknown |
Het |
| Hebp2 |
T |
C |
10: 18,420,122 (GRCm39) |
T104A |
probably benign |
Het |
| Ighv1-19 |
T |
A |
12: 114,672,377 (GRCm39) |
Q80L |
probably benign |
Het |
| Kctd19 |
T |
A |
8: 106,122,959 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,955,428 (GRCm39) |
L905P |
probably damaging |
Het |
| Klkb1 |
T |
C |
8: 45,735,814 (GRCm39) |
D183G |
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,588,460 (GRCm39) |
R67G |
possibly damaging |
Het |
| Krt75 |
T |
C |
15: 101,482,248 (GRCm39) |
I7V |
probably benign |
Het |
| Lpo |
A |
T |
11: 87,697,751 (GRCm39) |
N685K |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,538,070 (GRCm39) |
I1202N |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,754,572 (GRCm38) |
M1482K |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,791,810 (GRCm39) |
V1494E |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,801,913 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-3 |
A |
G |
8: 23,647,725 (GRCm39) |
Y228C |
probably damaging |
Het |
| Nprl2 |
G |
A |
9: 107,420,273 (GRCm39) |
|
probably null |
Het |
| Nxf1 |
A |
G |
19: 8,739,669 (GRCm39) |
|
probably null |
Het |
| Or4a39 |
A |
G |
2: 89,236,770 (GRCm39) |
F218L |
probably benign |
Het |
| Or52u1 |
A |
T |
7: 104,237,730 (GRCm39) |
N240Y |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,118,847 (GRCm39) |
E662G |
possibly damaging |
Het |
| Plekhm3 |
G |
A |
1: 64,977,078 (GRCm39) |
R131C |
probably damaging |
Het |
| Plpp7 |
T |
C |
2: 31,985,950 (GRCm39) |
S43P |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,187 (GRCm39) |
L352P |
probably damaging |
Het |
| Prepl |
T |
C |
17: 85,395,902 (GRCm39) |
S27G |
probably benign |
Het |
| Pttg1ip |
C |
T |
10: 77,419,854 (GRCm39) |
Q6* |
probably null |
Het |
| Rgl1 |
C |
T |
1: 152,424,813 (GRCm39) |
|
probably null |
Het |
| Riiad1 |
C |
A |
3: 94,380,173 (GRCm39) |
G41* |
probably null |
Het |
| Rnf214 |
C |
T |
9: 45,807,486 (GRCm39) |
R239H |
probably damaging |
Het |
| Rpap3 |
C |
T |
15: 97,584,407 (GRCm39) |
V346I |
probably benign |
Het |
| Scaf4 |
G |
A |
16: 90,048,831 (GRCm39) |
Q328* |
probably null |
Het |
| Sec23a |
A |
G |
12: 59,051,274 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
T |
A |
10: 88,740,774 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
A |
G |
2: 167,288,449 (GRCm39) |
T183A |
probably benign |
Het |
| Sod3 |
A |
T |
5: 52,525,736 (GRCm39) |
H145L |
probably damaging |
Het |
| Sp4 |
A |
G |
12: 118,263,341 (GRCm39) |
V235A |
probably damaging |
Het |
| Spp1 |
A |
C |
5: 104,588,153 (GRCm39) |
E185A |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,351,679 (GRCm39) |
W461R |
probably benign |
Het |
| Svil |
A |
C |
18: 5,095,516 (GRCm39) |
K1124Q |
probably damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,186,720 (GRCm39) |
|
probably null |
Het |
| Terb1 |
A |
T |
8: 105,221,795 (GRCm39) |
N168K |
probably benign |
Het |
| Tnnt1 |
A |
G |
7: 4,510,573 (GRCm39) |
L216P |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,424,121 (GRCm39) |
K1463E |
probably damaging |
Het |
| Twf2 |
T |
G |
9: 106,089,098 (GRCm39) |
|
probably null |
Het |
| Urb1 |
C |
T |
16: 90,602,299 (GRCm39) |
R90Q |
probably damaging |
Het |
| Wdr45b |
A |
T |
11: 121,219,650 (GRCm39) |
C299* |
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,237,138 (GRCm39) |
S54G |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,888,931 (GRCm39) |
K323R |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,378,582 (GRCm39) |
I302T |
possibly damaging |
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 |
|
R4782:Ptprd
|
UTSW |
4 |
76,009,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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'- ACACAGGTGTAATTTGCTGACTG -3'
(R):5'- GTGTGTACACAGACCATACTTGTATG -3'
Sequencing Primer
(F):5'- GTCTTACGTCATTCAGTTCTAGGAC -3'
(R):5'- ACTTGTATGGTCTGTACTATCCACAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation