Incidental Mutation 'R4838:Nrcam'
ID 371563
Institutional Source Beutler Lab
Gene Symbol Nrcam
Ensembl Gene ENSMUSG00000020598
Gene Name neuronal cell adhesion molecule
Synonyms C130076O07Rik, C030017F07Rik, Bravo
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4838 (G1)
Quality Score 217
Status Not validated
Chromosome 12
Chromosomal Location 44375668-44648747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44620802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 949 (E949G)
Ref Sequence ENSEMBL: ENSMUSP00000151844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000220123]
AlphaFold Q810U4
Predicted Effect probably damaging
Transcript: ENSMUST00000020939
AA Change: E943G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: E943G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IGc2 53 124 5.37e-4 SMART
IG 146 233 3.91e-6 SMART
IGc2 277 341 1.73e-16 SMART
IGc2 367 433 4.85e-11 SMART
IGc2 461 526 4.92e-12 SMART
IGc2 552 617 6.55e-8 SMART
low complexity region 618 623 N/A INTRINSIC
FN3 641 724 3.24e-10 SMART
FN3 738 824 1.77e-2 SMART
FN3 840 931 1.97e-9 SMART
FN3 946 1031 3.73e-10 SMART
transmembrane domain 1120 1142 N/A INTRINSIC
Pfam:Bravo_FIGEY 1143 1232 2.9e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110748
AA Change: E933G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: E933G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IGc2 53 124 5.37e-4 SMART
IG 146 233 3.91e-6 SMART
IGc2 277 341 1.73e-16 SMART
IGc2 367 433 4.85e-11 SMART
IGc2 461 526 4.92e-12 SMART
IGc2 552 617 6.55e-8 SMART
FN3 631 714 3.24e-10 SMART
FN3 728 814 1.77e-2 SMART
FN3 830 921 1.97e-9 SMART
FN3 936 1021 3.73e-10 SMART
transmembrane domain 1050 1072 N/A INTRINSIC
Pfam:Bravo_FIGEY 1073 1164 9.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220082
Predicted Effect probably damaging
Transcript: ENSMUST00000220123
AA Change: E949G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220130
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, knock-out(2) Targeted, other(4) Gene trapped(2) Chemically induced(1)

Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,944,523 (GRCm39) V386A probably benign Het
Adk G A 14: 21,419,154 (GRCm39) A247T probably damaging Het
Ankrd27 T A 7: 35,291,231 (GRCm39) L9Q possibly damaging Het
Atad2 A G 15: 57,966,679 (GRCm39) L638P probably damaging Het
Atf7ip T A 6: 136,573,489 (GRCm39) D1009E probably benign Het
Bend7 A T 2: 4,749,133 (GRCm39) K83N probably damaging Het
Bicc1 C T 10: 70,781,146 (GRCm39) D562N possibly damaging Het
Calcrl T A 2: 84,181,549 (GRCm39) N200Y probably damaging Het
Ccdc125 C A 13: 100,814,453 (GRCm39) A11E possibly damaging Het
Cd5l A G 3: 87,273,258 (GRCm39) T76A probably benign Het
Cdhr5 A T 7: 140,853,644 (GRCm39) I2N probably damaging Het
Cdk10 C T 8: 123,957,353 (GRCm39) A230V probably damaging Het
Cep128 T C 12: 90,966,319 (GRCm39) probably benign Het
Cep131 T C 11: 119,966,982 (GRCm39) N186D probably damaging Het
Cfhr4 T A 1: 139,661,181 (GRCm39) D556V probably damaging Het
Cog7 G T 7: 121,570,604 (GRCm39) P168Q probably damaging Het
Col28a1 T A 6: 8,014,559 (GRCm39) M949L probably benign Het
Coq8b T A 7: 26,950,016 (GRCm39) M365K probably damaging Het
Cpa1 A G 6: 30,639,515 (GRCm39) E18G possibly damaging Het
Csmd2 A G 4: 128,411,542 (GRCm39) H2520R probably benign Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Dpm1 G A 2: 168,052,456 (GRCm39) T260I probably damaging Het
Dtx3 A T 10: 127,027,176 (GRCm39) probably null Het
Eepd1 T C 9: 25,500,756 (GRCm39) V401A possibly damaging Het
Ehhadh A G 16: 21,581,952 (GRCm39) S347P possibly damaging Het
Elp3 A G 14: 65,785,313 (GRCm39) probably null Het
Enam C T 5: 88,640,967 (GRCm39) Q210* probably null Het
Epha1 C T 6: 42,340,750 (GRCm39) R607H probably benign Het
Erich6 A G 3: 58,544,251 (GRCm39) I112T probably benign Het
F830045P16Rik A G 2: 129,302,470 (GRCm39) V374A possibly damaging Het
Fam171a2 C A 11: 102,329,511 (GRCm39) R416L possibly damaging Het
Fbn1 T C 2: 125,214,319 (GRCm39) N764S probably benign Het
Fip1l1 C T 5: 74,752,600 (GRCm39) T469I probably damaging Het
Flad1 G A 3: 89,313,217 (GRCm39) R342C probably damaging Het
Fzd3 A G 14: 65,477,269 (GRCm39) V95A probably benign Het
Garem1 T C 18: 21,280,950 (GRCm39) T469A probably benign Het
Gm17093 A G 14: 44,755,805 (GRCm39) Y24C unknown Het
Grap2 T C 15: 80,522,762 (GRCm39) V96A possibly damaging Het
Greb1 A T 12: 16,734,361 (GRCm39) probably null Het
Grid2ip A T 5: 143,374,530 (GRCm39) K913* probably null Het
Gzmk T C 13: 113,309,555 (GRCm39) D126G probably damaging Het
Hibch A G 1: 52,924,337 (GRCm39) I171V possibly damaging Het
Hipk2 G T 6: 38,795,339 (GRCm39) T310K possibly damaging Het
Hk3 T C 13: 55,154,231 (GRCm39) Y815C probably damaging Het
Hps5 A T 7: 46,437,778 (GRCm39) V99E probably damaging Het
Hspg2 A G 4: 137,268,977 (GRCm39) H2203R possibly damaging Het
Il12rb2 A G 6: 67,286,121 (GRCm39) V108A probably damaging Het
Il6st C T 13: 112,627,044 (GRCm39) R279* probably null Het
Kdm2a A C 19: 4,375,054 (GRCm39) S692R probably benign Het
Kif13a T C 13: 46,980,224 (GRCm39) K176R probably damaging Het
Kif5b T C 18: 6,216,869 (GRCm39) K485E probably damaging Het
Ktn1 C T 14: 47,963,413 (GRCm39) R1111* probably null Het
Lrrc23 A T 6: 124,755,152 (GRCm39) N128K probably benign Het
Mad1l1 G A 5: 140,286,017 (GRCm39) Q293* probably null Het
Man1b1 A T 2: 25,235,487 (GRCm39) I338F possibly damaging Het
Marchf1 G T 8: 66,921,015 (GRCm39) V225L probably damaging Het
Matcap2 A T 9: 22,335,673 (GRCm39) D97V probably damaging Het
Mrpl3 A G 9: 104,934,231 (GRCm39) D118G probably damaging Het
Nomo1 A T 7: 45,733,139 (GRCm39) Q1209L unknown Het
Olfm5 T G 7: 103,803,572 (GRCm39) N297T probably damaging Het
Or51h7 T A 7: 102,591,453 (GRCm39) L110F probably damaging Het
Pcdh7 A T 5: 57,878,146 (GRCm39) N567I probably damaging Het
Pkn1 A G 8: 84,404,595 (GRCm39) L495P probably damaging Het
Pkp1 T C 1: 135,810,326 (GRCm39) S415G probably damaging Het
Pou2f1 T A 1: 165,744,492 (GRCm39) Q53L probably null Het
Pramel26 G A 4: 143,537,375 (GRCm39) Q319* probably null Het
Prkce A G 17: 86,937,511 (GRCm39) K648R probably benign Het
Ptprh G A 7: 4,576,429 (GRCm39) T277I possibly damaging Het
Rpl31 C T 1: 39,410,048 (GRCm39) R83C probably benign Het
Rpusd3 G A 6: 113,393,837 (GRCm39) Q194* probably null Het
Sgsm1 T A 5: 113,430,492 (GRCm39) N298Y probably damaging Het
She G A 3: 89,758,946 (GRCm39) G355D probably benign Het
Shld2 A G 14: 33,990,582 (GRCm39) V108A probably benign Het
Snx11 C T 11: 96,665,284 (GRCm39) E9K possibly damaging Het
Soat1 C A 1: 156,260,507 (GRCm39) A444S probably benign Het
Sox6 T C 7: 115,085,897 (GRCm39) Y690C probably damaging Het
Spata13 T A 14: 60,970,628 (GRCm39) F10I probably benign Het
St18 C A 1: 6,873,129 (GRCm39) T288K probably benign Het
Tifa C T 3: 127,590,235 (GRCm39) S2F probably damaging Het
Tmem232 A T 17: 65,737,883 (GRCm39) S392R probably benign Het
Tmtc3 T C 10: 100,302,082 (GRCm39) N289S probably damaging Het
Tpo A G 12: 30,142,633 (GRCm39) F697S probably damaging Het
Trp53 A G 11: 69,478,456 (GRCm39) T122A probably damaging Het
Trps1 A C 15: 50,690,712 (GRCm39) I10S probably benign Het
Tubgcp5 C T 7: 55,443,933 (GRCm39) probably benign Het
Unc13c T G 9: 73,839,354 (GRCm39) Y499S possibly damaging Het
Unc45a C A 7: 79,982,783 (GRCm39) D381Y probably damaging Het
Upf1 G C 8: 70,792,018 (GRCm39) H402Q probably benign Het
Uroc1 A T 6: 90,326,174 (GRCm39) I510F possibly damaging Het
Usp15 A G 10: 122,963,662 (GRCm39) F589L probably damaging Het
Vmn2r76 T C 7: 85,874,733 (GRCm39) Y748C probably damaging Het
Wwp1 T C 4: 19,662,143 (GRCm39) N151D probably benign Het
Zbtb40 A T 4: 136,728,527 (GRCm39) S439T probably benign Het
Zbtb6 A T 2: 37,318,728 (GRCm39) L400* probably null Het
Zfp125 C T 12: 20,949,961 (GRCm39) noncoding transcript Het
Zmynd8 A C 2: 165,681,954 (GRCm39) Y183* probably null Het
Zpld2 A G 4: 133,920,410 (GRCm39) V585A probably benign Het
Other mutations in Nrcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Nrcam APN 12 44,622,667 (GRCm39) missense probably benign 0.27
IGL01657:Nrcam APN 12 44,606,583 (GRCm39) missense probably damaging 1.00
IGL02434:Nrcam APN 12 44,637,026 (GRCm39) splice site probably benign
IGL02455:Nrcam APN 12 44,617,313 (GRCm39) missense probably damaging 1.00
IGL02712:Nrcam APN 12 44,620,610 (GRCm39) missense probably damaging 1.00
IGL02834:Nrcam APN 12 44,587,858 (GRCm39) critical splice donor site probably null
IGL03022:Nrcam APN 12 44,645,225 (GRCm39) missense probably damaging 1.00
IGL03174:Nrcam APN 12 44,622,789 (GRCm39) splice site probably benign
IGL03389:Nrcam APN 12 44,596,689 (GRCm39) missense probably benign 0.00
IGL03397:Nrcam APN 12 44,606,540 (GRCm39) missense probably damaging 1.00
I2288:Nrcam UTSW 12 44,611,098 (GRCm39) missense probably benign 0.06
I2289:Nrcam UTSW 12 44,611,098 (GRCm39) missense probably benign 0.06
R0063:Nrcam UTSW 12 44,596,811 (GRCm39) missense possibly damaging 0.49
R0063:Nrcam UTSW 12 44,596,811 (GRCm39) missense possibly damaging 0.49
R0195:Nrcam UTSW 12 44,631,628 (GRCm39) missense probably benign 0.00
R0463:Nrcam UTSW 12 44,598,124 (GRCm39) missense probably damaging 1.00
R0590:Nrcam UTSW 12 44,610,815 (GRCm39) missense probably damaging 1.00
R0674:Nrcam UTSW 12 44,611,105 (GRCm39) missense probably benign 0.17
R0930:Nrcam UTSW 12 44,596,667 (GRCm39) missense probably benign
R1241:Nrcam UTSW 12 44,636,947 (GRCm39) missense probably damaging 1.00
R1279:Nrcam UTSW 12 44,591,660 (GRCm39) splice site probably null
R1523:Nrcam UTSW 12 44,619,032 (GRCm39) missense probably damaging 1.00
R1572:Nrcam UTSW 12 44,584,147 (GRCm39) splice site probably benign
R1629:Nrcam UTSW 12 44,610,769 (GRCm39) missense probably benign 0.00
R1651:Nrcam UTSW 12 44,623,462 (GRCm39) missense probably damaging 0.97
R1729:Nrcam UTSW 12 44,620,633 (GRCm39) missense probably benign
R1739:Nrcam UTSW 12 44,618,458 (GRCm39) missense probably damaging 1.00
R1803:Nrcam UTSW 12 44,618,991 (GRCm39) missense probably benign
R1884:Nrcam UTSW 12 44,591,538 (GRCm39) missense probably damaging 1.00
R1974:Nrcam UTSW 12 44,610,776 (GRCm39) missense probably benign 0.05
R1992:Nrcam UTSW 12 44,587,753 (GRCm39) missense probably damaging 1.00
R2102:Nrcam UTSW 12 44,623,471 (GRCm39) missense probably benign 0.00
R2106:Nrcam UTSW 12 44,617,073 (GRCm39) missense probably benign 0.12
R3854:Nrcam UTSW 12 44,622,667 (GRCm39) missense probably benign 0.27
R4005:Nrcam UTSW 12 44,579,429 (GRCm39) missense probably benign
R4088:Nrcam UTSW 12 44,618,985 (GRCm39) missense possibly damaging 0.93
R4115:Nrcam UTSW 12 44,613,109 (GRCm39) missense possibly damaging 0.87
R4428:Nrcam UTSW 12 44,623,558 (GRCm39) missense possibly damaging 0.95
R4458:Nrcam UTSW 12 44,606,513 (GRCm39) missense probably damaging 1.00
R4580:Nrcam UTSW 12 44,609,323 (GRCm39) critical splice donor site probably null
R4601:Nrcam UTSW 12 44,637,839 (GRCm39) missense probably damaging 1.00
R4688:Nrcam UTSW 12 44,594,020 (GRCm39) missense probably benign
R4825:Nrcam UTSW 12 44,622,769 (GRCm39) nonsense probably null
R4950:Nrcam UTSW 12 44,645,273 (GRCm39) missense probably damaging 1.00
R4960:Nrcam UTSW 12 44,613,082 (GRCm39) missense probably benign 0.01
R5081:Nrcam UTSW 12 44,617,136 (GRCm39) missense probably benign 0.00
R5297:Nrcam UTSW 12 44,591,567 (GRCm39) missense probably damaging 1.00
R5504:Nrcam UTSW 12 44,610,915 (GRCm39) critical splice donor site probably null
R5593:Nrcam UTSW 12 44,606,483 (GRCm39) missense probably damaging 1.00
R5654:Nrcam UTSW 12 44,610,841 (GRCm39) missense probably benign
R5691:Nrcam UTSW 12 44,611,039 (GRCm39) missense probably damaging 1.00
R5890:Nrcam UTSW 12 44,623,554 (GRCm39) missense probably benign
R5937:Nrcam UTSW 12 44,619,074 (GRCm39) missense probably benign 0.00
R5980:Nrcam UTSW 12 44,618,416 (GRCm39) missense probably damaging 1.00
R6132:Nrcam UTSW 12 44,617,007 (GRCm39) missense probably damaging 1.00
R6213:Nrcam UTSW 12 44,609,215 (GRCm39) missense possibly damaging 0.90
R6334:Nrcam UTSW 12 44,619,083 (GRCm39) missense probably benign
R6617:Nrcam UTSW 12 44,587,746 (GRCm39) missense probably damaging 1.00
R6666:Nrcam UTSW 12 44,618,338 (GRCm39) missense probably damaging 1.00
R7191:Nrcam UTSW 12 44,619,027 (GRCm39) missense probably benign 0.01
R7284:Nrcam UTSW 12 44,610,817 (GRCm39) missense probably damaging 1.00
R7326:Nrcam UTSW 12 44,610,809 (GRCm39) missense possibly damaging 0.95
R7388:Nrcam UTSW 12 44,645,272 (GRCm39) missense probably damaging 1.00
R7650:Nrcam UTSW 12 44,594,105 (GRCm39) missense probably damaging 1.00
R7734:Nrcam UTSW 12 44,584,034 (GRCm39) missense possibly damaging 0.49
R7757:Nrcam UTSW 12 44,596,681 (GRCm39) nonsense probably null
R7840:Nrcam UTSW 12 44,587,858 (GRCm39) critical splice donor site probably null
R7917:Nrcam UTSW 12 44,620,546 (GRCm39) splice site probably null
R7935:Nrcam UTSW 12 44,631,644 (GRCm39) missense possibly damaging 0.92
R7955:Nrcam UTSW 12 44,631,737 (GRCm39) missense probably benign 0.26
R8117:Nrcam UTSW 12 44,645,365 (GRCm39) missense probably damaging 1.00
R8117:Nrcam UTSW 12 44,618,371 (GRCm39) missense probably benign 0.04
R8153:Nrcam UTSW 12 44,631,755 (GRCm39) missense probably benign
R8189:Nrcam UTSW 12 44,617,291 (GRCm39) missense possibly damaging 0.94
R8215:Nrcam UTSW 12 44,610,896 (GRCm39) missense probably benign 0.02
R8719:Nrcam UTSW 12 44,586,325 (GRCm39) missense probably benign
R8738:Nrcam UTSW 12 44,619,075 (GRCm39) missense possibly damaging 0.67
R8794:Nrcam UTSW 12 44,624,958 (GRCm39) missense probably benign 0.01
R8831:Nrcam UTSW 12 44,591,680 (GRCm39) critical splice donor site probably null
R8858:Nrcam UTSW 12 44,644,554 (GRCm39) splice site probably benign
R8885:Nrcam UTSW 12 44,610,908 (GRCm39) missense probably benign 0.10
R8912:Nrcam UTSW 12 44,645,366 (GRCm39) missense probably damaging 1.00
R9178:Nrcam UTSW 12 44,615,329 (GRCm39) missense possibly damaging 0.69
R9243:Nrcam UTSW 12 44,620,607 (GRCm39) missense probably damaging 1.00
R9257:Nrcam UTSW 12 44,610,837 (GRCm39) missense probably benign 0.27
R9266:Nrcam UTSW 12 44,636,917 (GRCm39) missense probably damaging 1.00
R9606:Nrcam UTSW 12 44,609,240 (GRCm39) missense probably damaging 0.97
R9623:Nrcam UTSW 12 44,636,931 (GRCm39) missense probably damaging 1.00
R9681:Nrcam UTSW 12 44,598,133 (GRCm39) missense probably null 1.00
R9747:Nrcam UTSW 12 44,645,192 (GRCm39) missense probably damaging 1.00
U24488:Nrcam UTSW 12 44,584,042 (GRCm39) missense probably damaging 1.00
X0057:Nrcam UTSW 12 44,598,199 (GRCm39) missense probably benign
X0066:Nrcam UTSW 12 44,596,812 (GRCm39) missense probably benign 0.00
Z1176:Nrcam UTSW 12 44,618,353 (GRCm39) missense probably damaging 1.00
Z1177:Nrcam UTSW 12 44,620,799 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACATCCTGTGCGTCTCTG -3'
(R):5'- TCCAGTCATGTGTGGGTGAC -3'

Sequencing Primer
(F):5'- GCCACTTCAGATTTACTACTGGAAG -3'
(R):5'- CATGTGTGGGTGACATTTCTCCAG -3'
Posted On 2016-03-01