Incidental Mutation 'IGL02297:Nav2'
ID |
290200 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nav2
|
Ensembl Gene |
ENSMUSG00000052512 |
Gene Name |
neuron navigator 2 |
Synonyms |
Rainb1, HELAD1, Unc53H2, RAINB2, 5330421F07Rik, POMFIL2 |
Accession Numbers |
|
Is this an essential gene? |
Possibly essential
(E-score: 0.534)
|
Stock # |
IGL02297
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
48908716-49610090 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49594229 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 2068
(N2068I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067448
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064395]
[ENSMUST00000183659]
[ENSMUST00000184945]
|
AlphaFold |
E9Q842 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064395
AA Change: N2068I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067448 Gene: ENSMUSG00000052512 AA Change: N2068I
Domain | Start | End | E-Value | Type |
CH
|
84 |
187 |
1.58e-13 |
SMART |
low complexity region
|
202 |
210 |
N/A |
INTRINSIC |
low complexity region
|
297 |
310 |
N/A |
INTRINSIC |
low complexity region
|
337 |
348 |
N/A |
INTRINSIC |
low complexity region
|
412 |
424 |
N/A |
INTRINSIC |
coiled coil region
|
486 |
516 |
N/A |
INTRINSIC |
low complexity region
|
580 |
591 |
N/A |
INTRINSIC |
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
low complexity region
|
640 |
662 |
N/A |
INTRINSIC |
low complexity region
|
846 |
857 |
N/A |
INTRINSIC |
low complexity region
|
920 |
944 |
N/A |
INTRINSIC |
low complexity region
|
947 |
967 |
N/A |
INTRINSIC |
low complexity region
|
990 |
1004 |
N/A |
INTRINSIC |
low complexity region
|
1062 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1343 |
1360 |
N/A |
INTRINSIC |
low complexity region
|
1368 |
1385 |
N/A |
INTRINSIC |
low complexity region
|
1417 |
1432 |
N/A |
INTRINSIC |
low complexity region
|
1454 |
1466 |
N/A |
INTRINSIC |
low complexity region
|
1526 |
1540 |
N/A |
INTRINSIC |
low complexity region
|
1614 |
1628 |
N/A |
INTRINSIC |
coiled coil region
|
1630 |
1717 |
N/A |
INTRINSIC |
low complexity region
|
1789 |
1800 |
N/A |
INTRINSIC |
coiled coil region
|
1841 |
1909 |
N/A |
INTRINSIC |
AAA
|
2093 |
2247 |
1.69e-5 |
SMART |
low complexity region
|
2404 |
2430 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183659
AA Change: N2007I
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139309 Gene: ENSMUSG00000052512 AA Change: N2007I
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
CH
|
23 |
126 |
6.19e-16 |
SMART |
low complexity region
|
141 |
149 |
N/A |
INTRINSIC |
low complexity region
|
236 |
249 |
N/A |
INTRINSIC |
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
coiled coil region
|
425 |
455 |
N/A |
INTRINSIC |
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
low complexity region
|
552 |
564 |
N/A |
INTRINSIC |
low complexity region
|
579 |
601 |
N/A |
INTRINSIC |
low complexity region
|
785 |
796 |
N/A |
INTRINSIC |
low complexity region
|
859 |
883 |
N/A |
INTRINSIC |
low complexity region
|
886 |
906 |
N/A |
INTRINSIC |
low complexity region
|
929 |
943 |
N/A |
INTRINSIC |
low complexity region
|
1001 |
1013 |
N/A |
INTRINSIC |
low complexity region
|
1282 |
1299 |
N/A |
INTRINSIC |
low complexity region
|
1307 |
1324 |
N/A |
INTRINSIC |
low complexity region
|
1356 |
1371 |
N/A |
INTRINSIC |
low complexity region
|
1393 |
1405 |
N/A |
INTRINSIC |
low complexity region
|
1465 |
1479 |
N/A |
INTRINSIC |
low complexity region
|
1553 |
1567 |
N/A |
INTRINSIC |
coiled coil region
|
1569 |
1656 |
N/A |
INTRINSIC |
low complexity region
|
1728 |
1739 |
N/A |
INTRINSIC |
coiled coil region
|
1780 |
1848 |
N/A |
INTRINSIC |
AAA
|
2032 |
2186 |
1.69e-5 |
SMART |
low complexity region
|
2343 |
2369 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183715
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184945
AA Change: N2068I
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000139045 Gene: ENSMUSG00000052512 AA Change: N2068I
Domain | Start | End | E-Value | Type |
CH
|
84 |
187 |
1.58e-13 |
SMART |
low complexity region
|
202 |
210 |
N/A |
INTRINSIC |
low complexity region
|
297 |
310 |
N/A |
INTRINSIC |
low complexity region
|
337 |
348 |
N/A |
INTRINSIC |
low complexity region
|
412 |
424 |
N/A |
INTRINSIC |
coiled coil region
|
486 |
516 |
N/A |
INTRINSIC |
low complexity region
|
580 |
591 |
N/A |
INTRINSIC |
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
low complexity region
|
640 |
662 |
N/A |
INTRINSIC |
low complexity region
|
846 |
857 |
N/A |
INTRINSIC |
low complexity region
|
920 |
944 |
N/A |
INTRINSIC |
low complexity region
|
947 |
967 |
N/A |
INTRINSIC |
low complexity region
|
990 |
1004 |
N/A |
INTRINSIC |
low complexity region
|
1062 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1343 |
1360 |
N/A |
INTRINSIC |
low complexity region
|
1368 |
1385 |
N/A |
INTRINSIC |
low complexity region
|
1417 |
1432 |
N/A |
INTRINSIC |
low complexity region
|
1454 |
1466 |
N/A |
INTRINSIC |
low complexity region
|
1526 |
1540 |
N/A |
INTRINSIC |
low complexity region
|
1614 |
1628 |
N/A |
INTRINSIC |
coiled coil region
|
1630 |
1717 |
N/A |
INTRINSIC |
low complexity region
|
1789 |
1800 |
N/A |
INTRINSIC |
coiled coil region
|
1841 |
1909 |
N/A |
INTRINSIC |
AAA
|
2093 |
2247 |
1.69e-5 |
SMART |
low complexity region
|
2404 |
2430 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] PHENOTYPE: Homozygous null mice display impaired olfaction and hearing, increased latency in a hot plate test, degeneration of the optic nerve, decreased exploration in new environments, and weight loss. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aifm2 |
C |
T |
10: 61,735,548 |
A287V |
possibly damaging |
Het |
Aqr |
A |
G |
2: 114,150,481 |
I273T |
probably benign |
Het |
Arid3c |
T |
C |
4: 41,730,021 |
E58G |
possibly damaging |
Het |
Col5a3 |
G |
T |
9: 20,772,154 |
T1574K |
unknown |
Het |
Dbh |
T |
C |
2: 27,177,736 |
V457A |
probably benign |
Het |
Gm12888 |
T |
C |
4: 121,324,799 |
E32G |
probably damaging |
Het |
Gnaq |
A |
G |
19: 16,378,251 |
D277G |
probably damaging |
Het |
Il20 |
G |
A |
1: 130,908,408 |
H133Y |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,339,517 |
F58L |
possibly damaging |
Het |
Lynx1 |
G |
T |
15: 74,751,642 |
Q19K |
probably benign |
Het |
Lyst |
G |
T |
13: 13,638,092 |
E1030* |
probably null |
Het |
Matn1 |
T |
A |
4: 130,952,264 |
|
probably benign |
Het |
Olfr1469 |
C |
T |
19: 13,411,475 |
T302I |
probably benign |
Het |
Olfr948 |
T |
C |
9: 39,318,703 |
I304V |
possibly damaging |
Het |
Slc25a23 |
G |
T |
17: 57,053,324 |
Q273K |
probably benign |
Het |
Slco4a1 |
T |
G |
2: 180,464,489 |
C155G |
probably benign |
Het |
Txnip |
T |
C |
3: 96,558,357 |
V41A |
probably damaging |
Het |
Wnt16 |
C |
A |
6: 22,297,991 |
Y285* |
probably null |
Het |
|
Other mutations in Nav2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01097:Nav2
|
APN |
7 |
49571194 |
missense |
probably damaging |
1.00 |
IGL01150:Nav2
|
APN |
7 |
49452521 |
missense |
probably benign |
0.17 |
IGL01649:Nav2
|
APN |
7 |
49575729 |
missense |
probably damaging |
1.00 |
IGL01662:Nav2
|
APN |
7 |
49571209 |
missense |
probably damaging |
1.00 |
IGL02313:Nav2
|
APN |
7 |
49558773 |
missense |
probably damaging |
0.99 |
IGL02441:Nav2
|
APN |
7 |
49452512 |
missense |
probably damaging |
1.00 |
IGL02472:Nav2
|
APN |
7 |
49546041 |
missense |
probably damaging |
1.00 |
IGL02477:Nav2
|
APN |
7 |
49582875 |
missense |
probably damaging |
0.99 |
IGL02725:Nav2
|
APN |
7 |
49565095 |
missense |
probably damaging |
1.00 |
IGL02944:Nav2
|
APN |
7 |
49420256 |
missense |
probably damaging |
0.99 |
IGL02953:Nav2
|
APN |
7 |
49548423 |
missense |
probably damaging |
1.00 |
IGL03105:Nav2
|
APN |
7 |
49464879 |
missense |
probably damaging |
1.00 |
IGL03234:Nav2
|
APN |
7 |
49462008 |
missense |
possibly damaging |
0.94 |
IGL03274:Nav2
|
APN |
7 |
49362099 |
missense |
probably damaging |
1.00 |
IGL03294:Nav2
|
APN |
7 |
49491457 |
nonsense |
probably null |
|
R0006:Nav2
|
UTSW |
7 |
49453230 |
missense |
possibly damaging |
0.50 |
R0070:Nav2
|
UTSW |
7 |
49570714 |
missense |
probably damaging |
1.00 |
R0113:Nav2
|
UTSW |
7 |
49535953 |
missense |
probably damaging |
1.00 |
R0306:Nav2
|
UTSW |
7 |
49545903 |
missense |
probably benign |
0.01 |
R0346:Nav2
|
UTSW |
7 |
49604585 |
missense |
probably benign |
0.11 |
R0539:Nav2
|
UTSW |
7 |
49461938 |
missense |
probably damaging |
1.00 |
R0669:Nav2
|
UTSW |
7 |
49408683 |
missense |
probably damaging |
1.00 |
R0785:Nav2
|
UTSW |
7 |
49420333 |
missense |
probably benign |
0.06 |
R0970:Nav2
|
UTSW |
7 |
49584153 |
missense |
probably damaging |
1.00 |
R1162:Nav2
|
UTSW |
7 |
49536040 |
splice site |
probably benign |
|
R1274:Nav2
|
UTSW |
7 |
49604430 |
nonsense |
probably null |
|
R1463:Nav2
|
UTSW |
7 |
49535962 |
missense |
probably damaging |
1.00 |
R1464:Nav2
|
UTSW |
7 |
49362204 |
missense |
probably damaging |
1.00 |
R1464:Nav2
|
UTSW |
7 |
49362204 |
missense |
probably damaging |
1.00 |
R1536:Nav2
|
UTSW |
7 |
49545934 |
missense |
probably damaging |
1.00 |
R1612:Nav2
|
UTSW |
7 |
49571211 |
missense |
probably damaging |
1.00 |
R1638:Nav2
|
UTSW |
7 |
49452465 |
missense |
probably benign |
|
R1731:Nav2
|
UTSW |
7 |
49548174 |
missense |
probably damaging |
1.00 |
R1734:Nav2
|
UTSW |
7 |
49575720 |
missense |
probably damaging |
1.00 |
R1865:Nav2
|
UTSW |
7 |
49548195 |
missense |
possibly damaging |
0.95 |
R1945:Nav2
|
UTSW |
7 |
49464872 |
missense |
probably damaging |
1.00 |
R1997:Nav2
|
UTSW |
7 |
49548471 |
missense |
probably benign |
0.16 |
R2061:Nav2
|
UTSW |
7 |
49598897 |
splice site |
probably benign |
|
R2117:Nav2
|
UTSW |
7 |
49464580 |
missense |
probably benign |
0.00 |
R2174:Nav2
|
UTSW |
7 |
49452663 |
missense |
probably damaging |
0.99 |
R2182:Nav2
|
UTSW |
7 |
49597254 |
missense |
probably benign |
0.38 |
R2251:Nav2
|
UTSW |
7 |
49453277 |
missense |
probably damaging |
1.00 |
R2283:Nav2
|
UTSW |
7 |
49491404 |
missense |
probably damaging |
1.00 |
R2343:Nav2
|
UTSW |
7 |
49598817 |
missense |
possibly damaging |
0.82 |
R2472:Nav2
|
UTSW |
7 |
49408884 |
missense |
probably benign |
|
R2568:Nav2
|
UTSW |
7 |
49597564 |
missense |
probably damaging |
1.00 |
R2656:Nav2
|
UTSW |
7 |
49545942 |
missense |
probably damaging |
1.00 |
R2964:Nav2
|
UTSW |
7 |
49557032 |
missense |
probably damaging |
1.00 |
R2966:Nav2
|
UTSW |
7 |
49557032 |
missense |
probably damaging |
1.00 |
R3817:Nav2
|
UTSW |
7 |
49464562 |
missense |
probably benign |
0.00 |
R3834:Nav2
|
UTSW |
7 |
49545858 |
missense |
possibly damaging |
0.91 |
R4207:Nav2
|
UTSW |
7 |
49572298 |
splice site |
probably null |
|
R4207:Nav2
|
UTSW |
7 |
49597231 |
missense |
probably damaging |
1.00 |
R4411:Nav2
|
UTSW |
7 |
49398109 |
missense |
probably benign |
0.37 |
R4413:Nav2
|
UTSW |
7 |
49398109 |
missense |
probably benign |
0.37 |
R4440:Nav2
|
UTSW |
7 |
49552037 |
missense |
possibly damaging |
0.86 |
R4440:Nav2
|
UTSW |
7 |
49575263 |
splice site |
probably benign |
|
R4454:Nav2
|
UTSW |
7 |
49548544 |
splice site |
probably null |
|
R4729:Nav2
|
UTSW |
7 |
49452819 |
missense |
probably benign |
0.17 |
R4801:Nav2
|
UTSW |
7 |
49545852 |
missense |
possibly damaging |
0.94 |
R4802:Nav2
|
UTSW |
7 |
49545852 |
missense |
possibly damaging |
0.94 |
R4824:Nav2
|
UTSW |
7 |
49409001 |
intron |
probably benign |
|
R4887:Nav2
|
UTSW |
7 |
49548434 |
nonsense |
probably null |
|
R4908:Nav2
|
UTSW |
7 |
49604510 |
missense |
probably damaging |
1.00 |
R4952:Nav2
|
UTSW |
7 |
49304540 |
intron |
probably benign |
|
R4965:Nav2
|
UTSW |
7 |
49552877 |
nonsense |
probably null |
|
R5169:Nav2
|
UTSW |
7 |
49548483 |
nonsense |
probably null |
|
R5224:Nav2
|
UTSW |
7 |
49551725 |
missense |
probably benign |
0.00 |
R5249:Nav2
|
UTSW |
7 |
49535913 |
missense |
probably damaging |
1.00 |
R5285:Nav2
|
UTSW |
7 |
49548234 |
missense |
probably damaging |
1.00 |
R5314:Nav2
|
UTSW |
7 |
49408692 |
small deletion |
probably benign |
|
R5320:Nav2
|
UTSW |
7 |
49491373 |
missense |
probably benign |
0.00 |
R5377:Nav2
|
UTSW |
7 |
49589160 |
missense |
probably benign |
0.02 |
R5471:Nav2
|
UTSW |
7 |
49548169 |
missense |
probably damaging |
1.00 |
R5754:Nav2
|
UTSW |
7 |
49557046 |
missense |
probably damaging |
1.00 |
R5832:Nav2
|
UTSW |
7 |
49548069 |
splice site |
probably null |
|
R5884:Nav2
|
UTSW |
7 |
49597169 |
nonsense |
probably null |
|
R5921:Nav2
|
UTSW |
7 |
49304576 |
intron |
probably benign |
|
R6180:Nav2
|
UTSW |
7 |
49458167 |
missense |
probably benign |
0.39 |
R6208:Nav2
|
UTSW |
7 |
49564103 |
missense |
probably damaging |
0.99 |
R6373:Nav2
|
UTSW |
7 |
49453175 |
missense |
probably damaging |
1.00 |
R6450:Nav2
|
UTSW |
7 |
49594366 |
missense |
probably damaging |
1.00 |
R6522:Nav2
|
UTSW |
7 |
49597533 |
missense |
probably damaging |
1.00 |
R6626:Nav2
|
UTSW |
7 |
49594352 |
missense |
probably damaging |
1.00 |
R6695:Nav2
|
UTSW |
7 |
49464904 |
missense |
probably benign |
0.04 |
R6705:Nav2
|
UTSW |
7 |
49551916 |
missense |
probably damaging |
1.00 |
R6842:Nav2
|
UTSW |
7 |
49458169 |
missense |
possibly damaging |
0.91 |
R6847:Nav2
|
UTSW |
7 |
49491456 |
missense |
probably benign |
0.14 |
R7287:Nav2
|
UTSW |
7 |
49420328 |
missense |
probably benign |
0.01 |
R7312:Nav2
|
UTSW |
7 |
49461924 |
missense |
possibly damaging |
0.55 |
R7315:Nav2
|
UTSW |
7 |
49548289 |
missense |
possibly damaging |
0.61 |
R7337:Nav2
|
UTSW |
7 |
49551773 |
missense |
possibly damaging |
0.56 |
R7366:Nav2
|
UTSW |
7 |
49554203 |
splice site |
probably null |
|
R7451:Nav2
|
UTSW |
7 |
49552829 |
splice site |
probably null |
|
R7545:Nav2
|
UTSW |
7 |
49582857 |
missense |
probably damaging |
1.00 |
R7706:Nav2
|
UTSW |
7 |
49594319 |
missense |
probably benign |
0.35 |
R7730:Nav2
|
UTSW |
7 |
49572397 |
missense |
probably damaging |
1.00 |
R7812:Nav2
|
UTSW |
7 |
49597173 |
missense |
probably benign |
0.13 |
R8097:Nav2
|
UTSW |
7 |
49587777 |
missense |
probably damaging |
1.00 |
R8110:Nav2
|
UTSW |
7 |
49551950 |
nonsense |
probably null |
|
R8119:Nav2
|
UTSW |
7 |
49453484 |
missense |
probably damaging |
0.99 |
R8298:Nav2
|
UTSW |
7 |
49554261 |
critical splice donor site |
probably null |
|
R8306:Nav2
|
UTSW |
7 |
49546017 |
missense |
probably benign |
0.33 |
R8331:Nav2
|
UTSW |
7 |
49452623 |
missense |
probably benign |
|
R8402:Nav2
|
UTSW |
7 |
49453437 |
missense |
probably benign |
0.43 |
R8421:Nav2
|
UTSW |
7 |
49452521 |
missense |
probably benign |
|
R8478:Nav2
|
UTSW |
7 |
49461985 |
missense |
probably damaging |
0.99 |
R8724:Nav2
|
UTSW |
7 |
49491436 |
missense |
possibly damaging |
0.82 |
R8753:Nav2
|
UTSW |
7 |
49452572 |
missense |
probably benign |
|
R8835:Nav2
|
UTSW |
7 |
49598803 |
missense |
possibly damaging |
0.83 |
R8933:Nav2
|
UTSW |
7 |
49461957 |
missense |
probably damaging |
1.00 |
R8957:Nav2
|
UTSW |
7 |
49571216 |
missense |
probably damaging |
1.00 |
R9069:Nav2
|
UTSW |
7 |
49558813 |
missense |
probably damaging |
0.99 |
R9095:Nav2
|
UTSW |
7 |
49604545 |
missense |
probably damaging |
1.00 |
R9223:Nav2
|
UTSW |
7 |
49552851 |
missense |
probably damaging |
1.00 |
R9261:Nav2
|
UTSW |
7 |
49597156 |
missense |
probably damaging |
1.00 |
X0023:Nav2
|
UTSW |
7 |
49547899 |
missense |
possibly damaging |
0.47 |
Z1177:Nav2
|
UTSW |
7 |
49452761 |
missense |
possibly damaging |
0.47 |
Z1177:Nav2
|
UTSW |
7 |
49594223 |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |