Incidental Mutation 'R4962:Nrap'
ID |
381888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrap
|
Ensembl Gene |
ENSMUSG00000049134 |
Gene Name |
nebulin-related anchoring protein |
Synonyms |
|
MMRRC Submission |
042559-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4962 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56308473-56378466 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56366575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 338
(M338T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040711]
[ENSMUST00000073536]
[ENSMUST00000095947]
[ENSMUST00000166203]
[ENSMUST00000167239]
|
AlphaFold |
Q80XB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040711
AA Change: M338T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048364 Gene: ENSMUSG00000049134 AA Change: M338T
Domain | Start | End | E-Value | Type |
LIM
|
5 |
57 |
5.39e-11 |
SMART |
NEBU
|
64 |
94 |
2.17e1 |
SMART |
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
NEBU
|
932 |
962 |
4e-6 |
SMART |
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
NEBU
|
1385 |
1415 |
1.76e-2 |
SMART |
NEBU
|
1418 |
1448 |
2.09e0 |
SMART |
NEBU
|
1453 |
1483 |
6.4e-5 |
SMART |
NEBU
|
1489 |
1519 |
8.63e-1 |
SMART |
NEBU
|
1527 |
1557 |
1.33e-2 |
SMART |
NEBU
|
1562 |
1592 |
1.84e-5 |
SMART |
NEBU
|
1593 |
1623 |
7.24e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073536
AA Change: M338T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073228 Gene: ENSMUSG00000049134 AA Change: M338T
Domain | Start | End | E-Value | Type |
LIM
|
5 |
57 |
5.39e-11 |
SMART |
NEBU
|
64 |
94 |
2.17e1 |
SMART |
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
NEBU
|
520 |
550 |
1.73e-10 |
SMART |
NEBU
|
556 |
586 |
8.12e-7 |
SMART |
NEBU
|
590 |
620 |
1.73e-1 |
SMART |
NEBU
|
625 |
655 |
2.33e-7 |
SMART |
NEBU
|
656 |
686 |
1.49e-5 |
SMART |
NEBU
|
690 |
721 |
5.12e-4 |
SMART |
NEBU
|
724 |
754 |
8.12e-7 |
SMART |
NEBU
|
759 |
789 |
2.64e-6 |
SMART |
NEBU
|
795 |
825 |
3.48e-6 |
SMART |
NEBU
|
833 |
863 |
2.35e-3 |
SMART |
NEBU
|
868 |
898 |
6.11e-2 |
SMART |
NEBU
|
899 |
929 |
1.69e-4 |
SMART |
NEBU
|
934 |
964 |
3.88e-4 |
SMART |
NEBU
|
967 |
997 |
4e-6 |
SMART |
NEBU
|
1002 |
1032 |
4.22e-5 |
SMART |
NEBU
|
1038 |
1068 |
2.64e-6 |
SMART |
NEBU
|
1076 |
1106 |
3.68e-5 |
SMART |
NEBU
|
1111 |
1141 |
4.16e-4 |
SMART |
NEBU
|
1142 |
1172 |
1.1e-3 |
SMART |
NEBU
|
1177 |
1207 |
1.68e1 |
SMART |
NEBU
|
1210 |
1240 |
4.59e-6 |
SMART |
NEBU
|
1245 |
1275 |
4.06e-7 |
SMART |
NEBU
|
1281 |
1311 |
1.99e-1 |
SMART |
NEBU
|
1319 |
1349 |
1.85e-1 |
SMART |
NEBU
|
1354 |
1384 |
1.39e-5 |
SMART |
NEBU
|
1385 |
1415 |
4.03e-2 |
SMART |
NEBU
|
1420 |
1450 |
1.76e-2 |
SMART |
NEBU
|
1453 |
1483 |
2.09e0 |
SMART |
NEBU
|
1488 |
1518 |
6.4e-5 |
SMART |
NEBU
|
1524 |
1554 |
8.63e-1 |
SMART |
NEBU
|
1562 |
1592 |
1.33e-2 |
SMART |
NEBU
|
1597 |
1627 |
1.84e-5 |
SMART |
NEBU
|
1628 |
1658 |
7.24e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095947
AA Change: M256T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000093640 Gene: ENSMUSG00000049134 AA Change: M256T
Domain | Start | End | E-Value | Type |
NEBU
|
86 |
115 |
1.2e-6 |
SMART |
NEBU
|
120 |
150 |
9.1e-8 |
SMART |
NEBU
|
157 |
186 |
1.4e-6 |
SMART |
NEBU
|
226 |
255 |
1.8e-8 |
SMART |
NEBU
|
264 |
294 |
2.5e-5 |
SMART |
NEBU
|
300 |
330 |
7.8e-6 |
SMART |
NEBU
|
368 |
398 |
6e-11 |
SMART |
NEBU
|
403 |
433 |
1.1e-12 |
SMART |
NEBU
|
439 |
469 |
5.2e-9 |
SMART |
NEBU
|
473 |
503 |
1.1e-3 |
SMART |
NEBU
|
508 |
538 |
1.5e-9 |
SMART |
NEBU
|
539 |
569 |
1e-7 |
SMART |
NEBU
|
573 |
604 |
3.3e-6 |
SMART |
NEBU
|
607 |
637 |
5.4e-9 |
SMART |
NEBU
|
642 |
672 |
1.7e-8 |
SMART |
NEBU
|
678 |
708 |
2.3e-8 |
SMART |
NEBU
|
716 |
746 |
1.5e-5 |
SMART |
NEBU
|
751 |
781 |
4.1e-4 |
SMART |
NEBU
|
782 |
812 |
1.1e-6 |
SMART |
NEBU
|
817 |
847 |
2.6e-6 |
SMART |
NEBU
|
850 |
880 |
2.6e-8 |
SMART |
NEBU
|
885 |
915 |
2.7e-7 |
SMART |
NEBU
|
921 |
951 |
1.7e-8 |
SMART |
NEBU
|
959 |
989 |
2.4e-7 |
SMART |
NEBU
|
994 |
1024 |
2.7e-6 |
SMART |
NEBU
|
1025 |
1055 |
7.2e-6 |
SMART |
NEBU
|
1060 |
1090 |
1.1e-1 |
SMART |
NEBU
|
1093 |
1123 |
3e-8 |
SMART |
NEBU
|
1128 |
1158 |
2.6e-9 |
SMART |
NEBU
|
1164 |
1194 |
1.3e-3 |
SMART |
NEBU
|
1202 |
1232 |
1.2e-3 |
SMART |
NEBU
|
1237 |
1267 |
8.8e-8 |
SMART |
NEBU
|
1268 |
1298 |
2.7e-4 |
SMART |
NEBU
|
1303 |
1333 |
1.2e-4 |
SMART |
NEBU
|
1336 |
1366 |
1.4e-2 |
SMART |
NEBU
|
1371 |
1401 |
4.3e-7 |
SMART |
NEBU
|
1407 |
1437 |
5.6e-3 |
SMART |
NEBU
|
1445 |
1475 |
8.8e-5 |
SMART |
NEBU
|
1480 |
1510 |
1.2e-7 |
SMART |
NEBU
|
1511 |
1541 |
4.8e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166203
AA Change: M338T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132582 Gene: ENSMUSG00000049134 AA Change: M338T
Domain | Start | End | E-Value | Type |
LIM
|
5 |
57 |
5.39e-11 |
SMART |
NEBU
|
64 |
94 |
2.17e1 |
SMART |
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
NEBU
|
520 |
550 |
1.06e-10 |
SMART |
NEBU
|
554 |
584 |
1.73e-1 |
SMART |
NEBU
|
589 |
619 |
2.33e-7 |
SMART |
NEBU
|
620 |
650 |
1.49e-5 |
SMART |
NEBU
|
654 |
685 |
5.12e-4 |
SMART |
NEBU
|
688 |
718 |
8.12e-7 |
SMART |
NEBU
|
723 |
753 |
2.64e-6 |
SMART |
NEBU
|
759 |
789 |
3.48e-6 |
SMART |
NEBU
|
797 |
827 |
2.35e-3 |
SMART |
NEBU
|
832 |
862 |
6.11e-2 |
SMART |
NEBU
|
863 |
893 |
1.69e-4 |
SMART |
NEBU
|
898 |
928 |
3.88e-4 |
SMART |
NEBU
|
931 |
961 |
4e-6 |
SMART |
NEBU
|
966 |
996 |
4.22e-5 |
SMART |
NEBU
|
1002 |
1032 |
2.64e-6 |
SMART |
NEBU
|
1040 |
1070 |
3.68e-5 |
SMART |
NEBU
|
1075 |
1105 |
4.16e-4 |
SMART |
NEBU
|
1106 |
1136 |
1.1e-3 |
SMART |
NEBU
|
1141 |
1171 |
1.68e1 |
SMART |
NEBU
|
1174 |
1204 |
4.59e-6 |
SMART |
NEBU
|
1209 |
1239 |
4.06e-7 |
SMART |
NEBU
|
1245 |
1275 |
1.99e-1 |
SMART |
NEBU
|
1283 |
1313 |
1.85e-1 |
SMART |
NEBU
|
1318 |
1348 |
1.39e-5 |
SMART |
NEBU
|
1349 |
1379 |
4.03e-2 |
SMART |
NEBU
|
1384 |
1414 |
1.76e-2 |
SMART |
NEBU
|
1417 |
1447 |
2.09e0 |
SMART |
NEBU
|
1452 |
1482 |
6.4e-5 |
SMART |
NEBU
|
1488 |
1518 |
8.63e-1 |
SMART |
NEBU
|
1526 |
1556 |
1.33e-2 |
SMART |
NEBU
|
1561 |
1591 |
1.84e-5 |
SMART |
NEBU
|
1592 |
1622 |
7.24e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167239
AA Change: M338T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128196 Gene: ENSMUSG00000049134 AA Change: M338T
Domain | Start | End | E-Value | Type |
LIM
|
5 |
57 |
5.39e-11 |
SMART |
NEBU
|
64 |
94 |
2.17e1 |
SMART |
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
NEBU
|
932 |
962 |
4e-6 |
SMART |
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
NEBU
|
1385 |
1415 |
3.06e-2 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000169099
AA Change: M61T
|
SMART Domains |
Protein: ENSMUSP00000125889 Gene: ENSMUSG00000049134 AA Change: M61T
Domain | Start | End | E-Value | Type |
NEBU
|
32 |
61 |
2.83e-6 |
SMART |
NEBU
|
70 |
100 |
7.24e-4 |
SMART |
NEBU
|
105 |
135 |
3.46e-1 |
SMART |
NEBU
|
141 |
171 |
1.18e-3 |
SMART |
NEBU
|
209 |
239 |
8.97e-9 |
SMART |
NEBU
|
244 |
274 |
1.73e-10 |
SMART |
NEBU
|
280 |
310 |
8.12e-7 |
SMART |
NEBU
|
314 |
344 |
1.73e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
G |
2: 151,314,728 (GRCm39) |
F317L |
possibly damaging |
Het |
Abcc4 |
A |
G |
14: 118,905,811 (GRCm39) |
I85T |
probably benign |
Het |
Acoxl |
G |
T |
2: 127,917,810 (GRCm39) |
C498F |
probably damaging |
Het |
Akap13 |
C |
T |
7: 75,399,178 (GRCm39) |
T2752I |
probably damaging |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Ap2a2 |
T |
G |
7: 141,210,061 (GRCm39) |
F836C |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,320,149 (GRCm39) |
V404A |
probably benign |
Het |
Atp7b |
G |
T |
8: 22,510,901 (GRCm39) |
A415E |
probably damaging |
Het |
Babam2 |
A |
T |
5: 31,942,927 (GRCm39) |
I71L |
possibly damaging |
Het |
Bean1 |
A |
G |
8: 104,943,606 (GRCm39) |
T54A |
probably damaging |
Het |
Cacna1b |
T |
A |
2: 24,508,330 (GRCm39) |
I1816F |
probably damaging |
Het |
Cacna1b |
C |
T |
2: 24,547,378 (GRCm39) |
G1202D |
probably damaging |
Het |
Casp8ap2 |
A |
G |
4: 32,640,554 (GRCm39) |
E536G |
probably damaging |
Het |
Cfap57 |
A |
G |
4: 118,470,262 (GRCm39) |
V206A |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,783,640 (GRCm39) |
D658E |
probably damaging |
Het |
Cwc22 |
A |
T |
2: 77,726,653 (GRCm39) |
S809T |
probably benign |
Het |
Cyp2c54 |
C |
T |
19: 40,060,585 (GRCm39) |
R132Q |
possibly damaging |
Het |
Ddx20 |
A |
T |
3: 105,587,921 (GRCm39) |
D386E |
possibly damaging |
Het |
Ddx50 |
T |
C |
10: 62,478,632 (GRCm39) |
T185A |
probably damaging |
Het |
Decr1 |
G |
A |
4: 15,930,976 (GRCm39) |
R119* |
probably null |
Het |
Dennd4a |
T |
C |
9: 64,813,285 (GRCm39) |
S1415P |
probably benign |
Het |
Dnah12 |
A |
T |
14: 26,437,855 (GRCm39) |
I495L |
probably benign |
Het |
Dnah2 |
G |
A |
11: 69,346,799 (GRCm39) |
Q2596* |
probably null |
Het |
Dnajb13 |
A |
G |
7: 100,156,707 (GRCm39) |
L123S |
probably benign |
Het |
Drgx |
G |
T |
14: 32,369,101 (GRCm39) |
|
probably benign |
Het |
Elavl3 |
G |
A |
9: 21,948,107 (GRCm39) |
P19L |
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,443,250 (GRCm39) |
S518P |
probably benign |
Het |
Fgd3 |
T |
C |
13: 49,420,105 (GRCm39) |
S591G |
probably benign |
Het |
Galnt18 |
C |
A |
7: 111,071,271 (GRCm39) |
R566L |
probably benign |
Het |
Galnt6 |
A |
T |
15: 100,594,455 (GRCm39) |
Y525* |
probably null |
Het |
Gm10036 |
A |
T |
18: 15,966,359 (GRCm39) |
Y170F |
probably benign |
Het |
Hacd2 |
A |
G |
16: 34,842,921 (GRCm39) |
D24G |
unknown |
Het |
Idh3a |
T |
C |
9: 54,503,325 (GRCm39) |
M128T |
possibly damaging |
Het |
Ido1 |
C |
T |
8: 25,074,565 (GRCm39) |
M359I |
probably benign |
Het |
Ikbkb |
T |
C |
8: 23,171,693 (GRCm39) |
T185A |
probably damaging |
Het |
Insl6 |
C |
T |
19: 29,299,019 (GRCm39) |
G131D |
probably damaging |
Het |
Irgm1 |
A |
C |
11: 48,757,159 (GRCm39) |
S217R |
possibly damaging |
Het |
Itga11 |
T |
A |
9: 62,668,850 (GRCm39) |
Y702* |
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kansl2 |
T |
C |
15: 98,429,724 (GRCm39) |
M103V |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,753,836 (GRCm39) |
N258S |
possibly damaging |
Het |
Kdm5d |
A |
T |
Y: 940,624 (GRCm39) |
D1045V |
probably damaging |
Het |
Lats2 |
A |
G |
14: 57,937,049 (GRCm39) |
L480P |
probably damaging |
Het |
Lin28b |
T |
A |
10: 45,296,736 (GRCm39) |
K87N |
possibly damaging |
Het |
Lpgat1 |
T |
A |
1: 191,451,682 (GRCm39) |
W103R |
probably damaging |
Het |
Lpl |
G |
T |
8: 69,347,345 (GRCm39) |
G166C |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,182,469 (GRCm39) |
Y569N |
probably damaging |
Het |
Mcm8 |
A |
T |
2: 132,680,689 (GRCm39) |
E564D |
probably damaging |
Het |
Me2 |
G |
T |
18: 73,918,847 (GRCm39) |
N411K |
probably damaging |
Het |
Mn1 |
A |
G |
5: 111,602,652 (GRCm39) |
T1297A |
possibly damaging |
Het |
Mphosph8 |
T |
A |
14: 56,916,046 (GRCm39) |
F447L |
probably benign |
Het |
Nacad |
T |
A |
11: 6,549,169 (GRCm39) |
D1294V |
probably damaging |
Het |
Neu3 |
A |
T |
7: 99,472,615 (GRCm39) |
F41I |
probably damaging |
Het |
Nlrp6 |
G |
T |
7: 140,503,497 (GRCm39) |
L534F |
probably damaging |
Het |
Nuak1 |
T |
C |
10: 84,210,979 (GRCm39) |
K370E |
probably damaging |
Het |
Or10ab4 |
T |
A |
7: 107,654,647 (GRCm39) |
C153S |
probably benign |
Het |
Or4d10 |
T |
A |
19: 12,051,639 (GRCm39) |
D119V |
probably damaging |
Het |
Or5w8 |
A |
G |
2: 87,687,632 (GRCm39) |
T38A |
probably benign |
Het |
Or6c212 |
C |
T |
10: 129,558,592 (GRCm39) |
V274M |
probably damaging |
Het |
P3h3 |
T |
C |
6: 124,818,736 (GRCm39) |
S701G |
probably benign |
Het |
Pdss2 |
T |
C |
10: 43,174,908 (GRCm39) |
M138T |
possibly damaging |
Het |
Piezo1 |
C |
T |
8: 123,213,220 (GRCm39) |
E1848K |
probably benign |
Het |
Prmt3 |
T |
G |
7: 49,476,557 (GRCm39) |
S389A |
probably benign |
Het |
Prune2 |
T |
A |
19: 17,099,637 (GRCm39) |
F1714I |
probably benign |
Het |
Ptgis |
A |
G |
2: 167,067,194 (GRCm39) |
|
probably null |
Het |
Ptpn20 |
T |
C |
14: 33,336,416 (GRCm39) |
V85A |
probably benign |
Het |
Rabepk |
A |
T |
2: 34,670,669 (GRCm39) |
Y264N |
probably damaging |
Het |
Ralgapa2 |
A |
T |
2: 146,276,754 (GRCm39) |
C495* |
probably null |
Het |
Satb2 |
A |
G |
1: 56,930,327 (GRCm39) |
I232T |
probably benign |
Het |
Selenbp2 |
A |
T |
3: 94,610,856 (GRCm39) |
L307F |
probably damaging |
Het |
Sgpl1 |
T |
G |
10: 60,949,863 (GRCm39) |
Y112S |
probably damaging |
Het |
Slitrk5 |
T |
C |
14: 111,918,679 (GRCm39) |
S768P |
probably benign |
Het |
Smc3 |
T |
A |
19: 53,619,948 (GRCm39) |
Y615N |
probably damaging |
Het |
Spag17 |
A |
G |
3: 99,934,939 (GRCm39) |
N715S |
probably benign |
Het |
Spats2 |
A |
G |
15: 99,110,157 (GRCm39) |
E518G |
probably benign |
Het |
Spats2l |
A |
G |
1: 57,924,983 (GRCm39) |
H127R |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 48,731,996 (GRCm39) |
K1287* |
probably null |
Het |
Thoc1 |
T |
A |
18: 9,962,387 (GRCm39) |
S91T |
probably benign |
Het |
Thoc6 |
C |
T |
17: 23,888,911 (GRCm39) |
G166S |
probably damaging |
Het |
Tmem107 |
C |
A |
11: 68,962,087 (GRCm39) |
T42N |
possibly damaging |
Het |
Tmprss11c |
A |
G |
5: 86,385,569 (GRCm39) |
I288T |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,725,248 (GRCm39) |
F1827S |
unknown |
Het |
Trmt112 |
C |
A |
19: 6,887,566 (GRCm39) |
T5N |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,101,027 (GRCm39) |
M57K |
probably benign |
Het |
Ttbk2 |
C |
A |
2: 120,575,631 (GRCm39) |
Q1115H |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,559,989 (GRCm39) |
E27725* |
probably null |
Het |
Ttn |
A |
G |
2: 76,774,453 (GRCm39) |
M2151T |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,384,336 (GRCm39) |
D727E |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,781,173 (GRCm39) |
T221A |
probably damaging |
Het |
Zbtb20 |
A |
G |
16: 43,439,055 (GRCm39) |
D725G |
probably damaging |
Het |
Zfp341 |
A |
T |
2: 154,468,734 (GRCm39) |
I126F |
possibly damaging |
Het |
Zfyve16 |
C |
T |
13: 92,650,402 (GRCm39) |
A861T |
probably damaging |
Het |
|
Other mutations in Nrap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:Nrap
|
APN |
19 |
56,361,341 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00570:Nrap
|
APN |
19 |
56,326,545 (GRCm39) |
missense |
probably benign |
0.10 |
IGL00946:Nrap
|
APN |
19 |
56,329,058 (GRCm39) |
splice site |
probably null |
|
IGL01070:Nrap
|
APN |
19 |
56,317,516 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01111:Nrap
|
APN |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01138:Nrap
|
APN |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01290:Nrap
|
APN |
19 |
56,350,180 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01352:Nrap
|
APN |
19 |
56,368,268 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01372:Nrap
|
APN |
19 |
56,317,534 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01395:Nrap
|
APN |
19 |
56,350,225 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01413:Nrap
|
APN |
19 |
56,377,823 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01734:Nrap
|
APN |
19 |
56,338,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01933:Nrap
|
APN |
19 |
56,377,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02156:Nrap
|
APN |
19 |
56,309,432 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02415:Nrap
|
APN |
19 |
56,370,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02447:Nrap
|
APN |
19 |
56,333,951 (GRCm39) |
nonsense |
probably null |
|
IGL02864:Nrap
|
APN |
19 |
56,338,806 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02993:Nrap
|
APN |
19 |
56,333,965 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03003:Nrap
|
APN |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03006:Nrap
|
APN |
19 |
56,335,596 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03084:Nrap
|
APN |
19 |
56,353,886 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03136:Nrap
|
APN |
19 |
56,330,687 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03272:Nrap
|
APN |
19 |
56,334,000 (GRCm39) |
intron |
probably benign |
|
IGL03389:Nrap
|
APN |
19 |
56,340,148 (GRCm39) |
missense |
probably benign |
0.10 |
R0116:Nrap
|
UTSW |
19 |
56,343,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R0374:Nrap
|
UTSW |
19 |
56,340,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R0715:Nrap
|
UTSW |
19 |
56,345,757 (GRCm39) |
missense |
probably damaging |
0.98 |
R0828:Nrap
|
UTSW |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Nrap
|
UTSW |
19 |
56,333,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1416:Nrap
|
UTSW |
19 |
56,315,725 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1459:Nrap
|
UTSW |
19 |
56,372,562 (GRCm39) |
missense |
probably benign |
0.00 |
R1616:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R1676:Nrap
|
UTSW |
19 |
56,323,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Nrap
|
UTSW |
19 |
56,343,961 (GRCm39) |
missense |
probably damaging |
0.99 |
R1766:Nrap
|
UTSW |
19 |
56,323,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R1792:Nrap
|
UTSW |
19 |
56,367,590 (GRCm39) |
missense |
probably benign |
0.00 |
R1817:Nrap
|
UTSW |
19 |
56,372,487 (GRCm39) |
unclassified |
probably benign |
|
R1972:Nrap
|
UTSW |
19 |
56,345,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R1982:Nrap
|
UTSW |
19 |
56,372,537 (GRCm39) |
missense |
probably damaging |
0.99 |
R2258:Nrap
|
UTSW |
19 |
56,310,394 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2448:Nrap
|
UTSW |
19 |
56,310,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3034:Nrap
|
UTSW |
19 |
56,352,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R3801:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R3804:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R3923:Nrap
|
UTSW |
19 |
56,368,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R3964:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R3965:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R3966:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R3980:Nrap
|
UTSW |
19 |
56,369,984 (GRCm39) |
missense |
probably benign |
0.01 |
R4182:Nrap
|
UTSW |
19 |
56,338,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R4499:Nrap
|
UTSW |
19 |
56,339,913 (GRCm39) |
missense |
probably damaging |
0.97 |
R4573:Nrap
|
UTSW |
19 |
56,330,770 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4603:Nrap
|
UTSW |
19 |
56,323,456 (GRCm39) |
critical splice donor site |
probably null |
|
R4689:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
R4749:Nrap
|
UTSW |
19 |
56,368,669 (GRCm39) |
missense |
probably damaging |
0.96 |
R4845:Nrap
|
UTSW |
19 |
56,339,902 (GRCm39) |
missense |
probably benign |
0.16 |
R4937:Nrap
|
UTSW |
19 |
56,335,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R5156:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5181:Nrap
|
UTSW |
19 |
56,333,960 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5202:Nrap
|
UTSW |
19 |
56,323,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R5262:Nrap
|
UTSW |
19 |
56,308,655 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5301:Nrap
|
UTSW |
19 |
56,367,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R5380:Nrap
|
UTSW |
19 |
56,370,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R5576:Nrap
|
UTSW |
19 |
56,310,414 (GRCm39) |
missense |
probably damaging |
0.99 |
R5631:Nrap
|
UTSW |
19 |
56,342,553 (GRCm39) |
missense |
probably benign |
0.19 |
R5754:Nrap
|
UTSW |
19 |
56,377,916 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5799:Nrap
|
UTSW |
19 |
56,330,601 (GRCm39) |
nonsense |
probably null |
|
R5899:Nrap
|
UTSW |
19 |
56,329,006 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5910:Nrap
|
UTSW |
19 |
56,330,743 (GRCm39) |
missense |
probably benign |
0.00 |
R5994:Nrap
|
UTSW |
19 |
56,340,031 (GRCm39) |
nonsense |
probably null |
|
R6124:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
R6149:Nrap
|
UTSW |
19 |
56,377,885 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6182:Nrap
|
UTSW |
19 |
56,350,130 (GRCm39) |
missense |
probably benign |
|
R6245:Nrap
|
UTSW |
19 |
56,368,307 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6245:Nrap
|
UTSW |
19 |
56,342,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R6270:Nrap
|
UTSW |
19 |
56,308,630 (GRCm39) |
missense |
probably benign |
0.00 |
R6274:Nrap
|
UTSW |
19 |
56,350,153 (GRCm39) |
missense |
probably benign |
0.21 |
R6340:Nrap
|
UTSW |
19 |
56,335,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R6547:Nrap
|
UTSW |
19 |
56,339,998 (GRCm39) |
missense |
probably benign |
0.00 |
R6734:Nrap
|
UTSW |
19 |
56,333,941 (GRCm39) |
missense |
probably damaging |
0.99 |
R6770:Nrap
|
UTSW |
19 |
56,370,969 (GRCm39) |
splice site |
probably null |
|
R6812:Nrap
|
UTSW |
19 |
56,340,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R6843:Nrap
|
UTSW |
19 |
56,368,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R7207:Nrap
|
UTSW |
19 |
56,333,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R7214:Nrap
|
UTSW |
19 |
56,366,567 (GRCm39) |
missense |
probably benign |
0.09 |
R7313:Nrap
|
UTSW |
19 |
56,330,700 (GRCm39) |
missense |
probably damaging |
0.97 |
R7515:Nrap
|
UTSW |
19 |
56,354,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7662:Nrap
|
UTSW |
19 |
56,308,715 (GRCm39) |
missense |
probably benign |
0.00 |
R7819:Nrap
|
UTSW |
19 |
56,323,720 (GRCm39) |
missense |
probably benign |
|
R7836:Nrap
|
UTSW |
19 |
56,338,729 (GRCm39) |
missense |
probably benign |
0.00 |
R7895:Nrap
|
UTSW |
19 |
56,342,584 (GRCm39) |
missense |
probably benign |
0.00 |
R8041:Nrap
|
UTSW |
19 |
56,352,768 (GRCm39) |
nonsense |
probably null |
|
R8046:Nrap
|
UTSW |
19 |
56,308,683 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8066:Nrap
|
UTSW |
19 |
56,342,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8129:Nrap
|
UTSW |
19 |
56,355,068 (GRCm39) |
splice site |
probably null |
|
R8188:Nrap
|
UTSW |
19 |
56,325,010 (GRCm39) |
nonsense |
probably null |
|
R8323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
R8353:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R8453:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R8693:Nrap
|
UTSW |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R8703:Nrap
|
UTSW |
19 |
56,323,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Nrap
|
UTSW |
19 |
56,352,843 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R8872:Nrap
|
UTSW |
19 |
56,308,627 (GRCm39) |
makesense |
probably null |
|
R8980:Nrap
|
UTSW |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R9201:Nrap
|
UTSW |
19 |
56,340,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R9229:Nrap
|
UTSW |
19 |
56,310,339 (GRCm39) |
missense |
probably benign |
0.01 |
R9235:Nrap
|
UTSW |
19 |
56,330,760 (GRCm39) |
nonsense |
probably null |
|
R9323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
R9327:Nrap
|
UTSW |
19 |
56,340,100 (GRCm39) |
missense |
probably benign |
0.25 |
R9329:Nrap
|
UTSW |
19 |
56,350,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R9468:Nrap
|
UTSW |
19 |
56,330,632 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9517:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
probably benign |
0.00 |
R9639:Nrap
|
UTSW |
19 |
56,333,948 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9657:Nrap
|
UTSW |
19 |
56,352,377 (GRCm39) |
missense |
probably benign |
0.27 |
R9709:Nrap
|
UTSW |
19 |
56,317,453 (GRCm39) |
missense |
probably benign |
0.08 |
R9709:Nrap
|
UTSW |
19 |
56,317,452 (GRCm39) |
missense |
probably damaging |
0.98 |
X0028:Nrap
|
UTSW |
19 |
56,323,652 (GRCm39) |
nonsense |
probably null |
|
Z1176:Nrap
|
UTSW |
19 |
56,333,949 (GRCm39) |
frame shift |
probably null |
|
Z1177:Nrap
|
UTSW |
19 |
56,333,196 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Nrap
|
UTSW |
19 |
56,326,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTAAACAAAGCCGCTGCAC -3'
(R):5'- CAGTATCGGGAAGTGTGTGGAC -3'
Sequencing Primer
(F):5'- AAGCCGCTGCACTCACTG -3'
(R):5'- CAGAGCCAGGAAAAGTTTTAGCAC -3'
|
Posted On |
2016-04-27 |