Incidental Mutation 'R2001:Ptprd'
| ID |
225913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprd
|
| Ensembl Gene |
ENSMUSG00000028399 |
| Gene Name |
protein tyrosine phosphatase receptor type D |
| Synonyms |
1110002J03Rik, B230219D21Rik, 3000002J10Rik |
| MMRRC Submission |
040011-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2001 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
75859475-78130198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75872359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1370
(Y1370C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050757]
[ENSMUST00000098005]
[ENSMUST00000102834]
[ENSMUST00000107289]
[ENSMUST00000173376]
[ENSMUST00000174023]
[ENSMUST00000174180]
[ENSMUST00000174831]
[ENSMUST00000174531]
|
| AlphaFold |
Q64487 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050757
AA Change: Y1370C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058466
Gene: ENSMUSG00000028399
AA Change: Y1370C
| 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: Y1371C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095614
Gene: ENSMUSG00000028399
AA Change: Y1371C
| 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 damaging
Transcript: ENSMUST00000102834
AA Change: Y1119C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099898
Gene: ENSMUSG00000028399
AA Change: Y1119C
| 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 damaging
Transcript: ENSMUST00000107289
AA Change: Y1777C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102910
Gene: ENSMUSG00000028399
AA Change: Y1777C
| 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 damaging
Transcript: ENSMUST00000173376
AA Change: Y1373C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133468
Gene: ENSMUSG00000028399
AA Change: Y1373C
| 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 damaging
Transcript: ENSMUST00000174023
AA Change: Y1367C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133562
Gene: ENSMUSG00000028399
AA Change: Y1367C
| 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: Y1755C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133973
Gene: ENSMUSG00000028399
AA Change: Y1755C
| 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 damaging
Transcript: ENSMUST00000174831
AA Change: Y1370C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133328
Gene: ENSMUSG00000028399
AA Change: Y1370C
| 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 damaging
Transcript: ENSMUST00000174531
AA Change: Y1360C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134229
Gene: ENSMUSG00000028399
AA Change: Y1360C
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,571,800 (GRCm39) |
S559P |
probably benign |
Het |
| A430005L14Rik |
T |
A |
4: 154,044,314 (GRCm39) |
C42S |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,223,967 (GRCm39) |
T449S |
probably benign |
Het |
| Acvr1c |
T |
A |
2: 58,205,987 (GRCm39) |
Q41L |
probably benign |
Het |
| Adamts13 |
C |
T |
2: 26,864,002 (GRCm39) |
P60L |
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,245,599 (GRCm39) |
T568A |
possibly damaging |
Het |
| Ago1 |
T |
C |
4: 126,348,187 (GRCm39) |
I44V |
probably null |
Het |
| Agtpbp1 |
TGAAGATGCATCTTGAGAAGA |
TGAAGA |
13: 59,623,617 (GRCm39) |
|
probably null |
Het |
| Ankrd28 |
A |
T |
14: 31,467,293 (GRCm39) |
V39E |
possibly damaging |
Het |
| Apaf1 |
A |
G |
10: 90,897,676 (GRCm39) |
V269A |
possibly damaging |
Het |
| Astn1 |
A |
G |
1: 158,348,091 (GRCm39) |
N506D |
probably damaging |
Het |
| BC051019 |
G |
A |
7: 109,319,758 (GRCm39) |
Q102* |
probably null |
Het |
| Bpifb5 |
A |
G |
2: 154,075,199 (GRCm39) |
T376A |
possibly damaging |
Het |
| Ccdc121rt1 |
G |
T |
1: 181,338,551 (GRCm39) |
Q134K |
probably benign |
Het |
| Ccl20 |
ATT |
ATTT |
1: 83,095,576 (GRCm39) |
|
probably null |
Het |
| Ccl6 |
G |
T |
11: 83,480,163 (GRCm39) |
P68T |
possibly damaging |
Het |
| Cd300ld |
A |
T |
11: 114,878,156 (GRCm39) |
F119I |
probably benign |
Het |
| Cdk2ap2 |
A |
G |
19: 4,147,903 (GRCm39) |
M57V |
possibly damaging |
Het |
| Cemip2 |
A |
G |
19: 21,779,351 (GRCm39) |
D387G |
probably benign |
Het |
| Chkb |
C |
T |
15: 89,312,969 (GRCm39) |
G36E |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,958,942 (GRCm39) |
|
probably null |
Het |
| Ctla2b |
T |
C |
13: 61,043,881 (GRCm39) |
Y120C |
probably damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,450,704 (GRCm39) |
N172S |
probably benign |
Het |
| Cyp2a22 |
G |
A |
7: 26,634,197 (GRCm39) |
P319L |
probably damaging |
Het |
| Dcaf12 |
A |
C |
4: 41,302,804 (GRCm39) |
V117G |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,831 (GRCm39) |
T48A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,842,736 (GRCm39) |
D923G |
possibly damaging |
Het |
| Dhx37 |
G |
T |
5: 125,504,528 (GRCm39) |
T345K |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,331,857 (GRCm39) |
Y1370* |
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,181,247 (GRCm39) |
S1045P |
possibly damaging |
Het |
| Dnmbp |
G |
C |
19: 43,838,612 (GRCm39) |
T1071S |
possibly damaging |
Het |
| Dspp |
T |
A |
5: 104,326,425 (GRCm39) |
S929R |
unknown |
Het |
| Dst |
A |
T |
1: 34,223,144 (GRCm39) |
E1625D |
probably damaging |
Het |
| Egflam |
T |
A |
15: 7,272,048 (GRCm39) |
H630L |
probably benign |
Het |
| Elane |
T |
C |
10: 79,723,593 (GRCm39) |
V186A |
possibly damaging |
Het |
| Fam209 |
C |
A |
2: 172,314,689 (GRCm39) |
N59K |
probably benign |
Het |
| Gbe1 |
A |
G |
16: 70,325,814 (GRCm39) |
E617G |
probably damaging |
Het |
| Get3 |
T |
C |
8: 85,751,789 (GRCm39) |
S36G |
probably damaging |
Het |
| Gfra1 |
A |
G |
19: 58,288,707 (GRCm39) |
L246P |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,618,112 (GRCm39) |
T308A |
probably benign |
Het |
| Grip2 |
A |
T |
6: 91,756,831 (GRCm39) |
V540D |
probably benign |
Het |
| Hhipl1 |
A |
T |
12: 108,288,118 (GRCm39) |
I575F |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,614,364 (GRCm39) |
E1347D |
possibly damaging |
Het |
| Itga2b |
C |
A |
11: 102,358,165 (GRCm39) |
A187S |
probably benign |
Het |
| Kalrn |
C |
A |
16: 33,848,415 (GRCm39) |
R469M |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,834,666 (GRCm39) |
C426* |
probably null |
Het |
| Lck |
T |
C |
4: 129,442,730 (GRCm39) |
N475S |
probably benign |
Het |
| Leng8 |
A |
G |
7: 4,148,073 (GRCm39) |
N642S |
probably damaging |
Het |
| Lingo4 |
T |
A |
3: 94,310,382 (GRCm39) |
I440N |
probably damaging |
Het |
| Lrrc4 |
A |
G |
6: 28,830,904 (GRCm39) |
F237S |
probably damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Naip2 |
A |
T |
13: 100,281,096 (GRCm39) |
I1316N |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,237 (GRCm39) |
G429S |
probably benign |
Het |
| Noct |
C |
T |
3: 51,155,465 (GRCm39) |
R78C |
probably damaging |
Het |
| Npbwr1 |
A |
G |
1: 5,987,394 (GRCm39) |
V40A |
possibly damaging |
Het |
| Nsd2 |
A |
G |
5: 34,000,746 (GRCm39) |
N88D |
probably damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,539 (GRCm39) |
I205F |
probably benign |
Het |
| Or5ap2 |
T |
A |
2: 85,680,744 (GRCm39) |
V316E |
probably benign |
Het |
| Or6c210 |
T |
A |
10: 129,496,290 (GRCm39) |
I205N |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,817 (GRCm39) |
H266R |
probably benign |
Het |
| Pak5 |
T |
A |
2: 135,958,557 (GRCm39) |
H177L |
probably benign |
Het |
| Pard3 |
C |
T |
8: 127,791,097 (GRCm39) |
|
probably null |
Het |
| Pde4c |
A |
G |
8: 71,200,007 (GRCm39) |
|
probably null |
Het |
| Pde6h |
T |
A |
6: 136,940,203 (GRCm39) |
I63N |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,594,558 (GRCm39) |
K916E |
possibly damaging |
Het |
| Ppig |
T |
C |
2: 69,571,988 (GRCm39) |
S236P |
unknown |
Het |
| Pzp |
T |
C |
6: 128,493,083 (GRCm39) |
T352A |
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,831,456 (GRCm39) |
Y177C |
possibly damaging |
Het |
| Rasgef1a |
G |
A |
6: 118,066,157 (GRCm39) |
V457M |
probably benign |
Het |
| Scel |
A |
T |
14: 103,848,226 (GRCm39) |
T616S |
possibly damaging |
Het |
| Sel1l |
A |
T |
12: 91,793,324 (GRCm39) |
Y228* |
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,137,083 (GRCm39) |
V161A |
possibly damaging |
Het |
| Slfnl1 |
T |
C |
4: 120,390,424 (GRCm39) |
L25P |
probably benign |
Het |
| Smad5 |
A |
G |
13: 56,885,187 (GRCm39) |
T432A |
probably damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,099,762 (GRCm39) |
|
probably null |
Het |
| Sphkap |
A |
T |
1: 83,254,383 (GRCm39) |
M835K |
probably damaging |
Het |
| Sqor |
A |
C |
2: 122,640,018 (GRCm39) |
T174P |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,842,759 (GRCm39) |
V577A |
probably damaging |
Het |
| Sulf2 |
T |
A |
2: 165,922,773 (GRCm39) |
E652D |
probably benign |
Het |
| Sycp2 |
T |
A |
2: 178,019,848 (GRCm39) |
Q556L |
probably benign |
Het |
| Syk |
A |
G |
13: 52,765,274 (GRCm39) |
T134A |
probably benign |
Het |
| Tas2r122 |
T |
A |
6: 132,688,585 (GRCm39) |
I103F |
possibly damaging |
Het |
| Tex10 |
A |
G |
4: 48,451,940 (GRCm39) |
W729R |
probably damaging |
Het |
| Tex261 |
G |
T |
6: 83,750,713 (GRCm39) |
P95T |
probably damaging |
Het |
| Tm2d2 |
T |
C |
8: 25,507,523 (GRCm39) |
S47P |
probably benign |
Het |
| Tmem95 |
A |
G |
11: 69,767,817 (GRCm39) |
S128P |
probably damaging |
Het |
| Tnxb |
G |
A |
17: 34,911,553 (GRCm39) |
A1619T |
possibly damaging |
Het |
| Trappc9 |
A |
G |
15: 72,929,885 (GRCm39) |
I157T |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,390,897 (GRCm39) |
|
probably null |
Het |
| Upb1 |
A |
T |
10: 75,265,803 (GRCm39) |
Y210F |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,559,232 (GRCm39) |
M1684V |
probably benign |
Het |
| Wnk2 |
G |
A |
13: 49,232,158 (GRCm39) |
P727S |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,034,867 (GRCm39) |
M396K |
probably benign |
Het |
| Zfp551 |
A |
T |
7: 12,150,276 (GRCm39) |
S378T |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,888,898 (GRCm39) |
V56A |
possibly damaging |
Het |
| Zfp945 |
C |
T |
17: 23,076,223 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AAGGGGATGTTACAGATTCCTTTC -3'
(R):5'- ACACCAGATAGTTTGCCTGTC -3'
Sequencing Primer
(F):5'- CCTTTAAAGTCATCTACAATGCGCG -3'
(R):5'- ACACCAGATAGTTTGCCTGTCTTTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation