Incidental Mutation 'R1734:Nav2'
ID 199569
Institutional Source Beutler Lab
Gene Symbol Nav2
Ensembl Gene ENSMUSG00000052512
Gene Name neuron navigator 2
Synonyms Rainb1, HELAD1, Unc53H2, RAINB2, 5330421F07Rik, POMFIL2
MMRRC Submission 039766-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # R1734 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 48908716-49610090 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49575720 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1803 (E1803K)
Ref Sequence ENSEMBL: ENSMUSP00000139045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064395] [ENSMUST00000183659] [ENSMUST00000184945]
AlphaFold E9Q842
Predicted Effect probably damaging
Transcript: ENSMUST00000064395
AA Change: E1803K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067448
Gene: ENSMUSG00000052512
AA Change: E1803K

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 damaging
Transcript: ENSMUST00000183659
AA Change: E1742K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139309
Gene: ENSMUSG00000052512
AA Change: E1742K

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: ENSMUST00000184102
Predicted Effect probably damaging
Transcript: ENSMUST00000184945
AA Change: E1803K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139045
Gene: ENSMUSG00000052512
AA Change: E1803K

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
Meta Mutation Damage Score 0.1244 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,585,460 (GRCm38) C4695R probably benign Het
Actr10 T A 12: 70,961,996 (GRCm38) V401E probably benign Het
Adamts16 G A 13: 70,779,518 (GRCm38) probably benign Het
Aimp1 A T 3: 132,674,796 (GRCm38) I59K probably damaging Het
Alms1 T A 6: 85,641,550 (GRCm38) probably null Het
Anln A T 9: 22,350,955 (GRCm38) S947T possibly damaging Het
Atp2c1 T C 9: 105,414,655 (GRCm38) T733A probably damaging Het
BC049715 C T 6: 136,840,308 (GRCm38) P182L probably damaging Het
Cblb T C 16: 52,186,240 (GRCm38) probably benign Het
Cep295 C T 9: 15,340,883 (GRCm38) E397K probably damaging Het
Ces4a G A 8: 105,138,097 (GRCm38) G69S probably damaging Het
Chac1 A T 2: 119,353,458 (GRCm38) L180F probably damaging Het
Cherp A T 8: 72,470,088 (GRCm38) probably null Het
Ckap4 A G 10: 84,527,874 (GRCm38) S442P probably benign Het
Clstn3 G A 6: 124,436,814 (GRCm38) probably benign Het
Crb2 T A 2: 37,793,656 (GRCm38) C1057S probably damaging Het
Dact2 T C 17: 14,196,639 (GRCm38) D433G probably benign Het
Dnah6 G A 6: 73,044,761 (GRCm38) T3526M probably damaging Het
Ethe1 A G 7: 24,608,384 (GRCm38) T210A probably benign Het
Fat2 A G 11: 55,281,371 (GRCm38) S2839P probably benign Het
Fbxl7 T C 15: 26,543,649 (GRCm38) Y304C probably damaging Het
Gad1-ps A T 10: 99,445,775 (GRCm38) noncoding transcript Het
Gm436 A T 4: 144,670,026 (GRCm38) C379S probably benign Het
Grm3 C T 5: 9,589,742 (GRCm38) R101K probably benign Het
Hspa12b A G 2: 131,138,536 (GRCm38) Y125C possibly damaging Het
Il10ra T C 9: 45,255,943 (GRCm38) T437A probably benign Het
Jcad T C 18: 4,674,526 (GRCm38) F763L probably damaging Het
Map3k10 T C 7: 27,658,115 (GRCm38) D746G probably damaging Het
Mettl9 T A 7: 121,047,841 (GRCm38) Y57N probably damaging Het
Nol11 G A 11: 107,175,623 (GRCm38) S447L possibly damaging Het
Olfr294 C T 7: 86,616,217 (GRCm38) V143M probably benign Het
Osbpl1a T C 18: 12,788,316 (GRCm38) probably null Het
Pde6a A G 18: 61,285,965 (GRCm38) N804S probably damaging Het
Pepd A T 7: 35,031,426 (GRCm38) D301V probably benign Het
Piwil2 A T 14: 70,426,505 (GRCm38) probably null Het
Plec C T 15: 76,186,218 (GRCm38) V931M probably damaging Het
Prrc2a A G 17: 35,150,707 (GRCm38) S1877P possibly damaging Het
Retreg2 G T 1: 75,142,986 (GRCm38) probably null Het
Slc7a11 G A 3: 50,372,346 (GRCm38) Q489* probably null Het
Sned1 G A 1: 93,259,768 (GRCm38) D256N probably damaging Het
Sphkap G A 1: 83,277,515 (GRCm38) R838* probably null Het
Ssfa2 G A 2: 79,657,822 (GRCm38) V750M probably damaging Het
Syce2 G A 8: 84,887,147 (GRCm38) E168K probably benign Het
Tex37 T A 6: 70,913,661 (GRCm38) Q49L probably benign Het
Tmem260 G T 14: 48,509,093 (GRCm38) V609L probably benign Het
Trim35 A G 14: 66,309,329 (GRCm38) D515G probably damaging Het
Tspan5 T C 3: 138,898,140 (GRCm38) Y131H probably damaging Het
Ttbk2 T C 2: 120,755,838 (GRCm38) I466V probably benign Het
Ttn T C 2: 76,745,813 (GRCm38) D24912G probably damaging Het
Utp20 A T 10: 88,767,461 (GRCm38) N1843K probably damaging Het
Vmn1r20 A G 6: 57,432,300 (GRCm38) R204G probably damaging Het
Vps18 A T 2: 119,293,942 (GRCm38) Q450L probably benign Het
Zbtb4 A G 11: 69,776,463 (GRCm38) E198G probably benign 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
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
R5377:Nav2 UTSW 7 49,589,160 (GRCm38) missense probably benign 0.02
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'- TGCACTGATCCCACAGAGCTGTTG -3'
(R):5'- TAAGTGCCACCTGTCCTGAACTCC -3'

Sequencing Primer
(F):5'- CACAGAGCTGTTGTGTGCC -3'
(R):5'- AGaaacaaacaaacaaacaaacaaac -3'
Posted On 2014-05-23