Incidental Mutation 'R8885:Nrcam'
ID 677266
Institutional Source Beutler Lab
Gene Symbol Nrcam
Ensembl Gene ENSMUSG00000020598
Gene Name neuronal cell adhesion molecule
Synonyms C130076O07Rik, C030017F07Rik, Bravo
MMRRC Submission 068751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8885 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 44375668-44648747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44610908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 536 (I536T)
Ref Sequence ENSEMBL: ENSMUSP00000020939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000220123]
AlphaFold Q810U4
Predicted Effect probably benign
Transcript: ENSMUST00000020939
AA Change: I536T

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: I536T

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 benign
Transcript: ENSMUST00000110748
AA Change: I536T

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: I536T

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: ENSMUST00000219906
Predicted Effect probably benign
Transcript: ENSMUST00000220123
AA Change: I542T

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (104/104)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,471,525 (GRCm39) S977C possibly damaging Het
Abca8a T A 11: 109,960,305 (GRCm39) D646V probably damaging Het
Adss2 T A 1: 177,597,526 (GRCm39) Y378F probably damaging Het
Akap6 C T 12: 53,188,319 (GRCm39) A1911V probably benign Het
Alg2 T C 4: 47,474,159 (GRCm39) Y43C probably benign Het
Alk A C 17: 72,202,758 (GRCm39) V1159G probably damaging Het
Alx3 A T 3: 107,508,010 (GRCm39) Q173L probably damaging Het
Aqp9 A G 9: 71,069,593 (GRCm39) probably benign Het
Atf7ip C A 6: 136,564,141 (GRCm39) L787I probably benign Het
Bbs9 A T 9: 22,590,234 (GRCm39) E657D possibly damaging Het
Bean1 G A 8: 104,908,752 (GRCm39) probably null Het
Cactin G T 10: 81,157,082 (GRCm39) R13L unknown Het
Ccdc178 T C 18: 22,200,721 (GRCm39) E412G probably damaging Het
Ccdc30 A G 4: 119,181,759 (GRCm39) I583T probably damaging Het
Ccl8 T C 11: 82,006,933 (GRCm39) Y49H probably damaging Het
Clptm1 T A 7: 19,372,932 (GRCm39) K199N probably damaging Het
Cnbp G A 6: 87,822,646 (GRCm39) S39L probably benign Het
Cnih3 T A 1: 181,237,437 (GRCm39) probably benign Het
Cnksr3 A T 10: 7,090,201 (GRCm39) probably benign Het
Cntn1 A G 15: 92,159,380 (GRCm39) I512V probably benign Het
Col20a1 A G 2: 180,640,296 (GRCm39) probably benign Het
Col28a1 A T 6: 8,127,360 (GRCm39) probably benign Het
Col6a2 A T 10: 76,450,741 (GRCm39) Y63* probably null Het
Copa T G 1: 171,925,312 (GRCm39) F190V probably damaging Het
Crisp4 A C 1: 18,207,148 (GRCm39) probably benign Het
Cxcl2 C T 5: 91,052,085 (GRCm39) Q64* probably null Het
Cxcr5 T C 9: 44,425,549 (GRCm39) D36G probably benign Het
Cyp20a1 T A 1: 60,411,765 (GRCm39) V271E possibly damaging Het
D430041D05Rik T C 2: 104,071,538 (GRCm39) Y570C probably damaging Het
Ddi1 T G 9: 6,266,198 (GRCm39) D57A probably benign Het
Ddx11 T A 17: 66,450,460 (GRCm39) S492T probably benign Het
Dhx34 C T 7: 15,950,376 (GRCm39) R264H probably damaging Het
Dnah3 T A 7: 119,561,375 (GRCm39) I328F Het
Dnah5 C T 15: 28,327,886 (GRCm39) R2087C probably damaging Het
Dnah8 C G 17: 30,927,286 (GRCm39) S1314W possibly damaging Het
Dock2 T C 11: 34,260,396 (GRCm39) N982D probably benign Het
Dync1h1 A G 12: 110,583,172 (GRCm39) D423G probably damaging Het
Ect2l A C 10: 18,048,583 (GRCm39) L213V probably damaging Het
Fam210a T C 18: 68,409,215 (GRCm39) I32V probably benign Het
Fancg A G 4: 43,007,266 (GRCm39) probably null Het
Fastkd5 T C 2: 130,457,111 (GRCm39) E493G probably benign Het
Fbxo38 T C 18: 62,659,272 (GRCm39) M342V probably damaging Het
Flnc A C 6: 29,455,410 (GRCm39) K2020Q probably damaging Het
Flt4 A G 11: 49,527,160 (GRCm39) probably benign Het
Frmd4b G T 6: 97,389,480 (GRCm39) P129T probably benign Het
Galnt13 C A 2: 54,770,138 (GRCm39) A310E probably benign Het
Gm4884 T A 7: 40,694,108 (GRCm39) Y692* probably null Het
Gm6309 T A 5: 146,105,103 (GRCm39) D270V probably damaging Het
Grip1 G T 10: 119,290,192 (GRCm39) probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kdf1 G T 4: 133,255,505 (GRCm39) C74F probably damaging Het
Kdm1b T A 13: 47,207,184 (GRCm39) C169* probably null Het
Kmt2c G T 5: 25,520,077 (GRCm39) T2011K probably benign Het
Lama1 G A 17: 68,080,779 (GRCm39) G1269E Het
Lamb3 C T 1: 193,017,182 (GRCm39) A791V probably benign Het
Leng9 G T 7: 4,151,774 (GRCm39) R301S possibly damaging Het
Lgr6 C A 1: 134,915,342 (GRCm39) V746L probably benign Het
Lrp5 T A 19: 3,702,170 (GRCm39) S216C probably damaging Het
Ltn1 T C 16: 87,178,433 (GRCm39) T1599A probably damaging Het
Map2k1 G T 9: 64,094,606 (GRCm39) N345K probably damaging Het
Map4k1 T A 7: 28,688,862 (GRCm39) D304E probably benign Het
Mcpt1 C T 14: 56,256,522 (GRCm39) T86I probably damaging Het
Mcpt9 T C 14: 56,265,153 (GRCm39) K116R probably benign Het
Morc2a G T 11: 3,628,584 (GRCm39) A346S probably damaging Het
Mybpc3 A T 2: 90,954,237 (GRCm39) Q370L probably benign Het
Nars2 T C 7: 96,652,095 (GRCm39) S229P probably damaging Het
Ndufa10 A T 1: 92,397,693 (GRCm39) Y118N probably damaging Het
Nek11 A T 9: 105,172,571 (GRCm39) probably null Het
Notch4 T C 17: 34,803,470 (GRCm39) V1463A possibly damaging Het
Or6c202 T C 10: 128,996,334 (GRCm39) Y173C probably benign Het
Pbld1 A T 10: 62,912,226 (GRCm39) T285S probably benign Het
Pcdhgb8 A T 18: 37,896,177 (GRCm39) T416S possibly damaging Het
Plekhg6 T C 6: 125,351,523 (GRCm39) D242G probably damaging Het
Pnmt T A 11: 98,278,580 (GRCm39) V182D probably benign Het
Ppp1r13b G T 12: 111,799,871 (GRCm39) N758K probably damaging Het
Prex2 A G 1: 11,240,799 (GRCm39) probably benign Het
Prss3 A T 6: 41,354,512 (GRCm39) L7Q probably damaging Het
Prss43 T A 9: 110,660,046 (GRCm39) L370Q probably damaging Het
Rac1 A T 5: 143,493,885 (GRCm39) V104E probably damaging Het
Rgs9 T C 11: 109,166,449 (GRCm39) Y107C probably damaging Het
Rnase13 C T 14: 52,159,940 (GRCm39) W66* probably null Het
Rrp1b G A 17: 32,270,688 (GRCm39) V216I possibly damaging Het
Serinc1 A G 10: 57,395,864 (GRCm39) S309P probably benign Het
Serpine3 T A 14: 62,902,587 (GRCm39) L66Q probably damaging Het
Smc5 C T 19: 23,191,234 (GRCm39) V924M probably damaging Het
Spmip4 A T 6: 50,551,028 (GRCm39) Y474N possibly damaging Het
Srgap1 A T 10: 121,761,545 (GRCm39) probably benign Het
Stab1 T C 14: 30,883,771 (GRCm39) E262G possibly damaging Het
Ston2 A G 12: 91,606,498 (GRCm39) *896R probably null Het
Syt6 A G 3: 103,532,941 (GRCm39) M442V probably benign Het
Tap1 T C 17: 34,408,536 (GRCm39) probably null Het
Tbx3 A C 5: 119,818,624 (GRCm39) S420R probably benign Het
Tespa1 A T 10: 130,198,316 (GRCm39) Q446L probably benign Het
Tifab T C 13: 56,324,108 (GRCm39) M112V probably benign Het
Trpv5 A T 6: 41,630,192 (GRCm39) S633T possibly damaging Het
Ttn T C 2: 76,684,236 (GRCm39) K838R unknown Het
Ttn A T 2: 76,744,810 (GRCm39) V5413E probably damaging Het
Tub C A 7: 108,628,793 (GRCm39) N415K Het
Vmn2r3 T C 3: 64,182,383 (GRCm39) M439V probably benign Het
Vps13c A G 9: 67,850,736 (GRCm39) D2231G probably benign Het
Wbp1 C T 6: 83,096,913 (GRCm39) C118Y unknown Het
Zdhhc20 C T 14: 58,127,671 (GRCm39) probably benign Het
Zfp217 T A 2: 169,956,391 (GRCm39) N869I probably benign Het
Zfp677 T C 17: 21,618,350 (GRCm39) I469T probably benign Het
Zmym2 T A 14: 57,185,329 (GRCm39) probably benign Het
Zzef1 T G 11: 72,687,402 (GRCm39) S94A 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
R4838:Nrcam UTSW 12 44,620,802 (GRCm39) missense probably damaging 1.00
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 44,618,371 (GRCm39) missense probably benign 0.04
R8117:Nrcam UTSW 12 44,645,365 (GRCm39) missense probably damaging 1.00
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
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'- ACCTTGATGCTTGCTGCTGG -3'
(R):5'- CATTCAAAGGACACCTTGCTC -3'

Sequencing Primer
(F):5'- TGCTGGCCACAGTCTGTG -3'
(R):5'- TCCCCCTCTGGACGACTG -3'
Posted On 2021-08-02