Incidental Mutation 'R5377:Nav2'
ID 425613
Institutional Source Beutler Lab
Gene Symbol Nav2
Ensembl Gene ENSMUSG00000052512
Gene Name neuron navigator 2
Synonyms Rainb1, HELAD1, Unc53H2, RAINB2, 5330421F07Rik, POMFIL2
MMRRC Submission 042845-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # R5377 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 48908716-49610090 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49589160 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2011 (V2011A)
Ref Sequence ENSEMBL: ENSMUSP00000139045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064395] [ENSMUST00000183659] [ENSMUST00000184945]
AlphaFold E9Q842
Predicted Effect probably benign
Transcript: ENSMUST00000064395
AA Change: V2011A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000067448
Gene: ENSMUSG00000052512
AA Change: V2011A

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000183659
AA Change: V1950A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139309
Gene: ENSMUSG00000052512
AA Change: V1950A

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000184471
Predicted Effect probably benign
Transcript: ENSMUST00000184945
AA Change: V2011A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000139045
Gene: ENSMUSG00000052512
AA Change: V2011A

DomainStartEndE-ValueType
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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,645,253 (GRCm38) V372F probably benign Het
Adcy10 G A 1: 165,519,895 (GRCm38) C393Y probably damaging Het
Adgrg7 A C 16: 56,730,306 (GRCm38) I681S possibly damaging Het
Akap8l T C 17: 32,321,511 (GRCm38) probably benign Het
Akr1a1 A T 4: 116,639,895 (GRCm38) V156E probably damaging Het
Alk T G 17: 71,895,739 (GRCm38) D1167A probably damaging Het
Ankrd11 T C 8: 122,893,714 (GRCm38) probably null Het
Aspm T A 1: 139,457,483 (GRCm38) N288K probably damaging Het
Aspm A G 1: 139,470,395 (GRCm38) probably null Het
Asxl2 G A 12: 3,474,618 (GRCm38) probably null Het
Atp6v0a1 A G 11: 101,055,587 (GRCm38) H802R probably damaging Het
B4galnt1 A G 10: 127,171,822 (GRCm38) T531A possibly damaging Het
Ccdc114 C T 7: 45,942,082 (GRCm38) R257* probably null Het
Cecr2 A G 6: 120,756,569 (GRCm38) N506D possibly damaging Het
Crebrf T C 17: 26,759,865 (GRCm38) V509A probably damaging Het
Cyp4f40 A T 17: 32,675,616 (GRCm38) I413F probably null Het
Defb12 C A 8: 19,114,326 (GRCm38) probably null Het
Dnah2 T C 11: 69,421,848 (GRCm38) E4297G probably damaging Het
Dpysl5 A T 5: 30,791,513 (GRCm38) N371Y probably damaging Het
Eef1d G T 15: 75,903,189 (GRCm38) T207N probably benign Het
Esrrb C T 12: 86,519,009 (GRCm38) Q416* probably null Het
Exd2 T C 12: 80,489,448 (GRCm38) L284P probably damaging Het
Fat3 T A 9: 16,376,443 (GRCm38) I595F probably benign Het
Gm9920 A G 15: 55,108,975 (GRCm38) probably benign Het
Hephl1 T C 9: 15,069,788 (GRCm38) K783E probably damaging Het
Irs2 A G 8: 11,005,277 (GRCm38) S1052P probably benign Het
Kctd18 T C 1: 57,963,093 (GRCm38) I192V probably benign Het
Lama3 A G 18: 12,453,746 (GRCm38) D722G probably damaging Het
Lepr T C 4: 101,815,019 (GRCm38) V1080A possibly damaging Het
Lpin1 C T 12: 16,563,655 (GRCm38) G504S probably damaging Het
Lrit2 A C 14: 37,069,183 (GRCm38) Q273P possibly damaging Het
Mgea5 A T 19: 45,758,022 (GRCm38) Y779* probably null Het
Mlkl T A 8: 111,327,937 (GRCm38) E189D probably benign Het
Mttp C T 3: 138,105,029 (GRCm38) R608H probably benign Het
Nos2 A T 11: 78,957,491 (GRCm38) I1075F probably benign Het
Npat A G 9: 53,550,036 (GRCm38) probably null Het
Nucks1 T C 1: 131,919,033 (GRCm38) F16L probably damaging Het
Nus1 T C 10: 52,429,213 (GRCm38) S150P possibly damaging Het
Olfr1230 G T 2: 89,297,162 (GRCm38) T36K probably damaging Het
Olfr881 A T 9: 37,992,612 (GRCm38) Y40F probably benign Het
Pclo A G 5: 14,681,353 (GRCm38) T3290A unknown Het
Pign A T 1: 105,657,812 (GRCm38) F4Y probably benign Het
Rfx4 A G 10: 84,860,542 (GRCm38) N233D possibly damaging Het
Rpgrip1 A T 14: 52,160,195 (GRCm38) M1325L possibly damaging Het
Rufy4 T C 1: 74,147,663 (GRCm38) C537R probably damaging Het
Scaf11 T A 15: 96,417,120 (GRCm38) H1227L possibly damaging Het
Sec31b G T 19: 44,518,637 (GRCm38) P840T probably damaging Het
Slc16a9 T A 10: 70,283,128 (GRCm38) L426I probably damaging Het
Slc17a2 T C 13: 23,812,592 (GRCm38) S27P probably damaging Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Tacc1 A G 8: 25,182,283 (GRCm38) S310P possibly damaging Het
Tmem245 G A 4: 56,947,084 (GRCm38) R110C probably damaging Het
Trip12 T C 1: 84,757,431 (GRCm38) Y953C probably damaging Het
Trpm7 C A 2: 126,842,855 (GRCm38) probably null Het
Ush2a G A 1: 188,912,123 (GRCm38) V4561I probably benign Het
Vmn1r192 C T 13: 22,187,631 (GRCm38) V140I probably benign Het
Vmn2r66 A T 7: 85,006,818 (GRCm38) I330N probably damaging Het
Vmn2r99 T C 17: 19,379,269 (GRCm38) V405A probably damaging Het
Wdhd1 A C 14: 47,272,221 (GRCm38) V172G probably benign Het
Zfhx3 C T 8: 108,951,185 (GRCm38) R2956C possibly damaging Het
Zfp446 T C 7: 12,982,251 (GRCm38) L283P possibly damaging Het
Zfp82 T C 7: 30,057,166 (GRCm38) K164E probably damaging Het
Other mutations in Nav2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Nav2 APN 7 49,571,194 (GRCm38) missense probably damaging 1.00
IGL01150:Nav2 APN 7 49,452,521 (GRCm38) missense probably benign 0.17
IGL01649:Nav2 APN 7 49,575,729 (GRCm38) missense probably damaging 1.00
IGL01662:Nav2 APN 7 49,571,209 (GRCm38) missense probably damaging 1.00
IGL02297:Nav2 APN 7 49,594,229 (GRCm38) missense probably damaging 0.98
IGL02313:Nav2 APN 7 49,558,773 (GRCm38) missense probably damaging 0.99
IGL02441:Nav2 APN 7 49,452,512 (GRCm38) missense probably damaging 1.00
IGL02472:Nav2 APN 7 49,546,041 (GRCm38) missense probably damaging 1.00
IGL02477:Nav2 APN 7 49,582,875 (GRCm38) missense probably damaging 0.99
IGL02725:Nav2 APN 7 49,565,095 (GRCm38) missense probably damaging 1.00
IGL02944:Nav2 APN 7 49,420,256 (GRCm38) missense probably damaging 0.99
IGL02953:Nav2 APN 7 49,548,423 (GRCm38) missense probably damaging 1.00
IGL03105:Nav2 APN 7 49,464,879 (GRCm38) missense probably damaging 1.00
IGL03234:Nav2 APN 7 49,462,008 (GRCm38) missense possibly damaging 0.94
IGL03274:Nav2 APN 7 49,362,099 (GRCm38) missense probably damaging 1.00
IGL03294:Nav2 APN 7 49,491,457 (GRCm38) nonsense probably null
R0006:Nav2 UTSW 7 49,453,230 (GRCm38) missense possibly damaging 0.50
R0070:Nav2 UTSW 7 49,570,714 (GRCm38) missense probably damaging 1.00
R0113:Nav2 UTSW 7 49,535,953 (GRCm38) missense probably damaging 1.00
R0306:Nav2 UTSW 7 49,545,903 (GRCm38) missense probably benign 0.01
R0346:Nav2 UTSW 7 49,604,585 (GRCm38) missense probably benign 0.11
R0539:Nav2 UTSW 7 49,461,938 (GRCm38) missense probably damaging 1.00
R0669:Nav2 UTSW 7 49,408,683 (GRCm38) missense probably damaging 1.00
R0785:Nav2 UTSW 7 49,420,333 (GRCm38) missense probably benign 0.06
R0970:Nav2 UTSW 7 49,584,153 (GRCm38) missense probably damaging 1.00
R1162:Nav2 UTSW 7 49,536,040 (GRCm38) splice site probably benign
R1274:Nav2 UTSW 7 49,604,430 (GRCm38) nonsense probably null
R1463:Nav2 UTSW 7 49,535,962 (GRCm38) missense probably damaging 1.00
R1464:Nav2 UTSW 7 49,362,204 (GRCm38) missense probably damaging 1.00
R1464:Nav2 UTSW 7 49,362,204 (GRCm38) missense probably damaging 1.00
R1536:Nav2 UTSW 7 49,545,934 (GRCm38) missense probably damaging 1.00
R1612:Nav2 UTSW 7 49,571,211 (GRCm38) missense probably damaging 1.00
R1638:Nav2 UTSW 7 49,452,465 (GRCm38) missense probably benign
R1731:Nav2 UTSW 7 49,548,174 (GRCm38) missense probably damaging 1.00
R1734:Nav2 UTSW 7 49,575,720 (GRCm38) missense probably damaging 1.00
R1865:Nav2 UTSW 7 49,548,195 (GRCm38) missense possibly damaging 0.95
R1945:Nav2 UTSW 7 49,464,872 (GRCm38) missense probably damaging 1.00
R1997:Nav2 UTSW 7 49,548,471 (GRCm38) missense probably benign 0.16
R2061:Nav2 UTSW 7 49,598,897 (GRCm38) splice site probably benign
R2117:Nav2 UTSW 7 49,464,580 (GRCm38) missense probably benign 0.00
R2174:Nav2 UTSW 7 49,452,663 (GRCm38) missense probably damaging 0.99
R2182:Nav2 UTSW 7 49,597,254 (GRCm38) missense probably benign 0.38
R2251:Nav2 UTSW 7 49,453,277 (GRCm38) missense probably damaging 1.00
R2283:Nav2 UTSW 7 49,491,404 (GRCm38) missense probably damaging 1.00
R2343:Nav2 UTSW 7 49,598,817 (GRCm38) missense possibly damaging 0.82
R2472:Nav2 UTSW 7 49,408,884 (GRCm38) missense probably benign
R2568:Nav2 UTSW 7 49,597,564 (GRCm38) missense probably damaging 1.00
R2656:Nav2 UTSW 7 49,545,942 (GRCm38) missense probably damaging 1.00
R2964:Nav2 UTSW 7 49,557,032 (GRCm38) missense probably damaging 1.00
R2966:Nav2 UTSW 7 49,557,032 (GRCm38) missense probably damaging 1.00
R3817:Nav2 UTSW 7 49,464,562 (GRCm38) missense probably benign 0.00
R3834:Nav2 UTSW 7 49,545,858 (GRCm38) missense possibly damaging 0.91
R4207:Nav2 UTSW 7 49,597,231 (GRCm38) missense probably damaging 1.00
R4207:Nav2 UTSW 7 49,572,298 (GRCm38) splice site probably null
R4411:Nav2 UTSW 7 49,398,109 (GRCm38) missense probably benign 0.37
R4413:Nav2 UTSW 7 49,398,109 (GRCm38) missense probably benign 0.37
R4440:Nav2 UTSW 7 49,575,263 (GRCm38) splice site probably benign
R4440:Nav2 UTSW 7 49,552,037 (GRCm38) missense possibly damaging 0.86
R4454:Nav2 UTSW 7 49,548,544 (GRCm38) splice site probably null
R4729:Nav2 UTSW 7 49,452,819 (GRCm38) missense probably benign 0.17
R4801:Nav2 UTSW 7 49,545,852 (GRCm38) missense possibly damaging 0.94
R4802:Nav2 UTSW 7 49,545,852 (GRCm38) missense possibly damaging 0.94
R4824:Nav2 UTSW 7 49,409,001 (GRCm38) intron probably benign
R4887:Nav2 UTSW 7 49,548,434 (GRCm38) nonsense probably null
R4908:Nav2 UTSW 7 49,604,510 (GRCm38) missense probably damaging 1.00
R4952:Nav2 UTSW 7 49,304,540 (GRCm38) intron probably benign
R4965:Nav2 UTSW 7 49,552,877 (GRCm38) nonsense probably null
R5169:Nav2 UTSW 7 49,548,483 (GRCm38) nonsense probably null
R5224:Nav2 UTSW 7 49,551,725 (GRCm38) missense probably benign 0.00
R5249:Nav2 UTSW 7 49,535,913 (GRCm38) missense probably damaging 1.00
R5285:Nav2 UTSW 7 49,548,234 (GRCm38) missense probably damaging 1.00
R5314:Nav2 UTSW 7 49,408,692 (GRCm38) small deletion probably benign
R5320:Nav2 UTSW 7 49,491,373 (GRCm38) missense probably benign 0.00
R5471:Nav2 UTSW 7 49,548,169 (GRCm38) missense probably damaging 1.00
R5754:Nav2 UTSW 7 49,557,046 (GRCm38) missense probably damaging 1.00
R5832:Nav2 UTSW 7 49,548,069 (GRCm38) splice site probably null
R5884:Nav2 UTSW 7 49,597,169 (GRCm38) nonsense probably null
R5921:Nav2 UTSW 7 49,304,576 (GRCm38) intron probably benign
R6180:Nav2 UTSW 7 49,458,167 (GRCm38) missense probably benign 0.39
R6208:Nav2 UTSW 7 49,564,103 (GRCm38) missense probably damaging 0.99
R6373:Nav2 UTSW 7 49,453,175 (GRCm38) missense probably damaging 1.00
R6450:Nav2 UTSW 7 49,594,366 (GRCm38) missense probably damaging 1.00
R6522:Nav2 UTSW 7 49,597,533 (GRCm38) missense probably damaging 1.00
R6626:Nav2 UTSW 7 49,594,352 (GRCm38) missense probably damaging 1.00
R6695:Nav2 UTSW 7 49,464,904 (GRCm38) missense probably benign 0.04
R6705:Nav2 UTSW 7 49,551,916 (GRCm38) missense probably damaging 1.00
R6842:Nav2 UTSW 7 49,458,169 (GRCm38) missense possibly damaging 0.91
R6847:Nav2 UTSW 7 49,491,456 (GRCm38) missense probably benign 0.14
R7287:Nav2 UTSW 7 49,420,328 (GRCm38) missense probably benign 0.01
R7312:Nav2 UTSW 7 49,461,924 (GRCm38) missense possibly damaging 0.55
R7315:Nav2 UTSW 7 49,548,289 (GRCm38) missense possibly damaging 0.61
R7337:Nav2 UTSW 7 49,551,773 (GRCm38) missense possibly damaging 0.56
R7366:Nav2 UTSW 7 49,554,203 (GRCm38) splice site probably null
R7451:Nav2 UTSW 7 49,552,829 (GRCm38) splice site probably null
R7545:Nav2 UTSW 7 49,582,857 (GRCm38) missense probably damaging 1.00
R7706:Nav2 UTSW 7 49,594,319 (GRCm38) missense probably benign 0.35
R7730:Nav2 UTSW 7 49,572,397 (GRCm38) missense probably damaging 1.00
R7812:Nav2 UTSW 7 49,597,173 (GRCm38) missense probably benign 0.13
R8097:Nav2 UTSW 7 49,587,777 (GRCm38) missense probably damaging 1.00
R8110:Nav2 UTSW 7 49,551,950 (GRCm38) nonsense probably null
R8119:Nav2 UTSW 7 49,453,484 (GRCm38) missense probably damaging 0.99
R8298:Nav2 UTSW 7 49,554,261 (GRCm38) critical splice donor site probably null
R8306:Nav2 UTSW 7 49,546,017 (GRCm38) missense probably benign 0.33
R8331:Nav2 UTSW 7 49,452,623 (GRCm38) missense probably benign
R8402:Nav2 UTSW 7 49,453,437 (GRCm38) missense probably benign 0.43
R8421:Nav2 UTSW 7 49,452,521 (GRCm38) missense probably benign
R8478:Nav2 UTSW 7 49,461,985 (GRCm38) missense probably damaging 0.99
R8724:Nav2 UTSW 7 49,491,436 (GRCm38) missense possibly damaging 0.82
R8753:Nav2 UTSW 7 49,452,572 (GRCm38) missense probably benign
R8835:Nav2 UTSW 7 49,598,803 (GRCm38) missense possibly damaging 0.83
R8933:Nav2 UTSW 7 49,461,957 (GRCm38) missense probably damaging 1.00
R8957:Nav2 UTSW 7 49,571,216 (GRCm38) missense probably damaging 1.00
R9069:Nav2 UTSW 7 49,558,813 (GRCm38) missense probably damaging 0.99
R9095:Nav2 UTSW 7 49,604,545 (GRCm38) missense probably damaging 1.00
R9223:Nav2 UTSW 7 49,552,851 (GRCm38) missense probably damaging 1.00
R9261:Nav2 UTSW 7 49,597,156 (GRCm38) missense probably damaging 1.00
X0023:Nav2 UTSW 7 49,547,899 (GRCm38) missense possibly damaging 0.47
Z1177:Nav2 UTSW 7 49,594,223 (GRCm38) missense probably benign 0.01
Z1177:Nav2 UTSW 7 49,452,761 (GRCm38) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- GGCTCACCCAGATTAAATGTTC -3'
(R):5'- ACTTTGGCCACTGGAAGTCC -3'

Sequencing Primer
(F):5'- CTCACCCAGATTAAATGTTCATGGTC -3'
(R):5'- CTAGAACTTGCTCTGTGGACCAG -3'
Posted On 2016-08-04