Incidental Mutation 'R7895:Nrap'
ID |
609651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrap
|
Ensembl Gene |
ENSMUSG00000049134 |
Gene Name |
nebulin-related anchoring protein |
Synonyms |
|
MMRRC Submission |
045947-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7895 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
56308473-56378466 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 56342584 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 806
(T806P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040711]
[ENSMUST00000073536]
[ENSMUST00000095947]
[ENSMUST00000166203]
[ENSMUST00000167239]
|
AlphaFold |
Q80XB4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040711
AA Change: T771P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000048364 Gene: ENSMUSG00000049134 AA Change: T771P
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 benign
Transcript: ENSMUST00000073536
AA Change: T806P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000073228 Gene: ENSMUSG00000049134 AA Change: T806P
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 benign
Transcript: ENSMUST00000095947
AA Change: T689P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000093640 Gene: ENSMUSG00000049134 AA Change: T689P
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 benign
Transcript: ENSMUST00000166203
AA Change: T770P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000132582 Gene: ENSMUSG00000049134 AA Change: T770P
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 benign
Transcript: ENSMUST00000167239
AA Change: T771P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000128196 Gene: ENSMUSG00000049134 AA Change: T771P
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 |
probably benign
Transcript: ENSMUST00000169099
|
SMART Domains |
Protein: ENSMUSP00000125889 Gene: ENSMUSG00000049134
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (92/93) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
A |
T |
12: 55,106,295 (GRCm39) |
S143T |
probably benign |
Het |
9030624G23Rik |
A |
T |
12: 24,094,724 (GRCm39) |
M149K |
unknown |
Het |
Aadacl4fm4 |
A |
T |
4: 144,396,913 (GRCm39) |
I273K |
possibly damaging |
Het |
Agpat3 |
T |
A |
10: 78,119,034 (GRCm39) |
I187F |
probably benign |
Het |
Ahcyl1 |
C |
T |
3: 107,576,467 (GRCm39) |
A332T |
probably damaging |
Het |
Aldh3b3 |
A |
G |
19: 4,014,871 (GRCm39) |
I123V |
possibly damaging |
Het |
Ap5z1 |
T |
A |
5: 142,456,313 (GRCm39) |
|
probably null |
Het |
Apob |
A |
T |
12: 8,061,933 (GRCm39) |
I3472F |
probably benign |
Het |
Arhgef33 |
C |
T |
17: 80,680,914 (GRCm39) |
P685S |
probably benign |
Het |
Arhgef4 |
T |
C |
1: 34,845,478 (GRCm39) |
I130T |
probably damaging |
Het |
Arnt2 |
A |
T |
7: 83,954,406 (GRCm39) |
F263I |
probably benign |
Het |
Bbof1 |
A |
G |
12: 84,466,763 (GRCm39) |
R177G |
probably damaging |
Het |
Bbs2 |
C |
A |
8: 94,807,764 (GRCm39) |
G372W |
probably damaging |
Het |
Blmh |
T |
A |
11: 76,836,721 (GRCm39) |
|
probably null |
Het |
Ccdc30 |
A |
T |
4: 119,209,910 (GRCm39) |
|
probably null |
Het |
Cdca7l |
G |
T |
12: 117,837,467 (GRCm39) |
L219F |
probably damaging |
Het |
Cenpu |
C |
A |
8: 47,015,499 (GRCm39) |
A138E |
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,972,321 (GRCm39) |
T13S |
probably benign |
Het |
Clasp2 |
A |
G |
9: 113,733,016 (GRCm39) |
M951V |
probably benign |
Het |
Clca4a |
A |
G |
3: 144,674,166 (GRCm39) |
S190P |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,298,167 (GRCm39) |
V74A |
probably benign |
Het |
Cntln |
C |
T |
4: 84,981,561 (GRCm39) |
T913M |
possibly damaging |
Het |
Cntnap4 |
T |
A |
8: 113,478,829 (GRCm39) |
V185E |
probably damaging |
Het |
Col26a1 |
C |
T |
5: 136,777,031 (GRCm39) |
|
probably null |
Het |
Ctcf |
A |
T |
8: 106,390,690 (GRCm39) |
Q99L |
possibly damaging |
Het |
Dgke |
T |
C |
11: 88,931,682 (GRCm39) |
Q524R |
probably damaging |
Het |
Dhrs7 |
A |
T |
12: 72,699,234 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
C |
1: 46,289,110 (GRCm39) |
Y2969H |
probably damaging |
Het |
Dync1h1 |
T |
G |
12: 110,582,891 (GRCm39) |
I358S |
probably damaging |
Het |
Efcab3 |
A |
C |
11: 105,008,150 (GRCm39) |
D410A |
probably benign |
Het |
Emilin2 |
T |
C |
17: 71,580,908 (GRCm39) |
D606G |
probably benign |
Het |
Ermard |
C |
T |
17: 15,283,875 (GRCm39) |
T622I |
possibly damaging |
Het |
Exo1 |
A |
G |
1: 175,728,562 (GRCm39) |
D542G |
probably benign |
Het |
Fgd5 |
A |
T |
6: 91,964,262 (GRCm39) |
D165V |
probably benign |
Het |
Gdap1 |
T |
C |
1: 17,231,368 (GRCm39) |
W238R |
probably damaging |
Het |
Gm11096 |
T |
G |
17: 81,749,328 (GRCm39) |
I7M |
unknown |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gmppb |
A |
T |
9: 107,927,770 (GRCm39) |
M175L |
probably benign |
Het |
Gorasp2 |
G |
A |
2: 70,514,442 (GRCm39) |
S273N |
probably benign |
Het |
Gtf3c1 |
T |
C |
7: 125,271,994 (GRCm39) |
M642V |
possibly damaging |
Het |
Hmx2 |
T |
A |
7: 131,157,600 (GRCm39) |
L238Q |
probably damaging |
Het |
Kif13b |
A |
G |
14: 64,973,598 (GRCm39) |
D316G |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,578,174 (GRCm39) |
S701P |
possibly damaging |
Het |
Lama4 |
T |
A |
10: 38,964,325 (GRCm39) |
N1332K |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,288,823 (GRCm39) |
D3681G |
probably damaging |
Het |
Maml3 |
G |
T |
3: 51,605,143 (GRCm39) |
P722Q |
probably damaging |
Het |
Mier2 |
C |
A |
10: 79,377,719 (GRCm39) |
|
probably benign |
Het |
Ms4a15 |
A |
T |
19: 10,956,694 (GRCm39) |
|
probably null |
Het |
Msh5 |
T |
C |
17: 35,263,355 (GRCm39) |
M158V |
probably benign |
Het |
Nova2 |
A |
T |
7: 18,676,270 (GRCm39) |
K136I |
|
Het |
Npm1 |
A |
T |
11: 33,106,001 (GRCm39) |
|
probably null |
Het |
Nr4a3 |
T |
A |
4: 48,051,390 (GRCm39) |
M48K |
probably benign |
Het |
Ntf3 |
G |
A |
6: 126,079,203 (GRCm39) |
T101M |
probably benign |
Het |
Or2aj4 |
G |
A |
16: 19,385,472 (GRCm39) |
R54* |
probably null |
Het |
Paxbp1 |
T |
A |
16: 90,822,166 (GRCm39) |
D648V |
probably damaging |
Het |
Pcdhb18 |
T |
A |
18: 37,623,520 (GRCm39) |
D283E |
probably benign |
Het |
Phrf1 |
C |
A |
7: 140,839,288 (GRCm39) |
Q828K |
unknown |
Het |
Pigq |
A |
T |
17: 26,156,299 (GRCm39) |
I43N |
probably benign |
Het |
Pou6f2 |
G |
T |
13: 18,300,033 (GRCm39) |
T542K |
|
Het |
Ppfibp2 |
T |
A |
7: 107,320,524 (GRCm39) |
|
probably null |
Het |
Rab1b |
A |
T |
19: 5,150,524 (GRCm39) |
M163K |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,793,934 (GRCm39) |
M567T |
probably benign |
Het |
Reck |
T |
C |
4: 43,890,970 (GRCm39) |
V36A |
probably benign |
Het |
Resp18 |
C |
T |
1: 75,254,846 (GRCm39) |
D36N |
probably null |
Het |
Rint1 |
A |
C |
5: 24,005,720 (GRCm39) |
H134P |
probably damaging |
Het |
Rps19 |
A |
T |
7: 24,587,764 (GRCm39) |
K77M |
possibly damaging |
Het |
Sec24b |
A |
T |
3: 129,789,598 (GRCm39) |
S808T |
probably benign |
Het |
Sema4c |
A |
C |
1: 36,592,199 (GRCm39) |
V216G |
probably damaging |
Het |
Septin10 |
T |
A |
10: 59,016,871 (GRCm39) |
T218S |
probably benign |
Het |
Septin3 |
A |
T |
15: 82,170,020 (GRCm39) |
H182L |
probably benign |
Het |
Sipa1 |
A |
G |
19: 5,702,690 (GRCm39) |
S836P |
probably benign |
Het |
Slc9a5 |
A |
G |
8: 106,089,998 (GRCm39) |
K652R |
probably damaging |
Het |
Slco5a1 |
T |
A |
1: 13,059,927 (GRCm39) |
I265F |
possibly damaging |
Het |
Snapc5 |
T |
A |
9: 64,086,614 (GRCm39) |
M1K |
probably null |
Het |
Snx5 |
T |
A |
2: 144,095,740 (GRCm39) |
D307V |
possibly damaging |
Het |
Srebf2 |
A |
T |
15: 82,061,441 (GRCm39) |
M381L |
probably benign |
Het |
Ssh2 |
G |
C |
11: 77,345,452 (GRCm39) |
E1146Q |
probably benign |
Het |
Suco |
A |
T |
1: 161,672,937 (GRCm39) |
|
probably null |
Het |
Tanc2 |
T |
A |
11: 105,812,651 (GRCm39) |
L1365Q |
probably damaging |
Het |
Tas1r3 |
A |
G |
4: 155,947,005 (GRCm39) |
L200P |
probably damaging |
Het |
Thbs2 |
T |
G |
17: 14,896,483 (GRCm39) |
D802A |
probably damaging |
Het |
Trav3-1 |
G |
A |
14: 52,818,550 (GRCm39) |
V75M |
probably benign |
Het |
Trim9 |
G |
A |
12: 70,301,961 (GRCm39) |
P559L |
probably benign |
Het |
Trpc6 |
G |
A |
9: 8,655,219 (GRCm39) |
G683D |
probably damaging |
Het |
Unc5b |
C |
A |
10: 60,615,509 (GRCm39) |
V164L |
possibly damaging |
Het |
Usf3 |
A |
T |
16: 44,036,565 (GRCm39) |
R348S |
possibly damaging |
Het |
Vmn1r236 |
T |
C |
17: 21,507,728 (GRCm39) |
V282A |
possibly damaging |
Het |
Vmn2r1 |
A |
G |
3: 63,997,130 (GRCm39) |
E262G |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,339,841 (GRCm39) |
E694G |
probably damaging |
Het |
Xpo4 |
T |
A |
14: 57,840,048 (GRCm39) |
H572L |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,307,259 (GRCm39) |
T162A |
probably benign |
Het |
Zfp110 |
T |
A |
7: 12,571,020 (GRCm39) |
H59Q |
possibly 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 |
R4962:Nrap
|
UTSW |
19 |
56,366,575 (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 |
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'- ATTTGGGGAGACGATGCTCC -3'
(R):5'- GCTCAGAAAGGTTTTCACAGAGTC -3'
Sequencing Primer
(F):5'- ACGATGCTCCTGCCTAGGTAG -3'
(R):5'- CCCAGGGGTCATATATTAGAATGTCC -3'
|
Posted On |
2019-12-20 |