Incidental Mutation 'R5593:Nrcam'
ID 437646
Institutional Source Beutler Lab
Gene Symbol Nrcam
Ensembl Gene ENSMUSG00000020598
Gene Name neuronal cell adhesion molecule
Synonyms C130076O07Rik, C030017F07Rik, Bravo
MMRRC Submission 043145-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5593 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 44375668-44648747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44606483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 410 (T410A)
Ref Sequence ENSEMBL: ENSMUSP00000106376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000220123]
AlphaFold Q810U4
Predicted Effect possibly damaging
Transcript: ENSMUST00000020939
AA Change: T410A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: T410A

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: T410A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: T410A

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 possibly damaging
Transcript: ENSMUST00000220123
AA Change: T416A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220130
Meta Mutation Damage Score 0.3332 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (71/71)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
Anpep T G 7: 79,491,794 (GRCm39) K69T probably benign Het
Appbp2 A T 11: 85,085,409 (GRCm39) I499K possibly damaging Het
Copb2 A G 9: 98,469,091 (GRCm39) probably null Het
Cpa5 T C 6: 30,630,848 (GRCm39) I370T probably benign Het
Cpn2 T C 16: 30,078,898 (GRCm39) T268A probably benign Het
Ctbp2 C A 7: 132,600,598 (GRCm39) R99I possibly damaging Het
Cul1 G A 6: 47,462,020 (GRCm39) W196* probably null Het
Cul1 T C 6: 47,491,925 (GRCm39) F402L probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Dyrk1a C A 16: 94,460,442 (GRCm39) Q33K possibly damaging Het
Elapor2 T A 5: 9,316,350 (GRCm39) L27Q probably benign Het
Epg5 T A 18: 78,000,689 (GRCm39) S542T probably damaging Het
Eps8l3 A T 3: 107,798,504 (GRCm39) probably benign Het
Evc2 A G 5: 37,544,321 (GRCm39) H690R probably damaging Het
Fam227a G A 15: 79,524,259 (GRCm39) probably benign Het
Gadl1 G T 9: 115,835,718 (GRCm39) G382V probably damaging Het
Gbf1 A G 19: 46,260,963 (GRCm39) Q1176R possibly damaging Het
Gdf9 A T 11: 53,324,558 (GRCm39) H109L probably damaging Het
Gsdmd T A 15: 75,738,856 (GRCm39) V411D probably damaging Het
Hdc T C 2: 126,460,504 (GRCm39) probably benign Het
Ifrd2 A G 9: 107,467,374 (GRCm39) D82G probably damaging Het
Itpkb T C 1: 180,161,661 (GRCm39) S596P probably damaging Het
Kcnmb3 A G 3: 32,546,096 (GRCm39) V8A possibly damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mcm9 G A 10: 53,414,393 (GRCm39) T229I probably damaging Het
Medag T A 5: 149,350,415 (GRCm39) F21L probably benign Het
Mefv A T 16: 3,533,315 (GRCm39) C319S probably benign Het
Mettl23 T A 11: 116,734,593 (GRCm39) V54D probably damaging Het
Mul1 A G 4: 138,166,543 (GRCm39) D199G probably damaging Het
Ncor1 A T 11: 62,260,130 (GRCm39) I266N probably damaging Het
Nek10 A T 14: 14,980,544 (GRCm38) K967* probably null Het
Or1p1 A G 11: 74,179,618 (GRCm39) I49V possibly damaging Het
Or2b11 T C 11: 59,461,874 (GRCm39) R231G possibly damaging Het
Or52d13 C T 7: 103,109,592 (GRCm39) silent Het
Or52e4 T C 7: 104,705,711 (GRCm39) I86T probably damaging Het
Pate2 A T 9: 35,581,778 (GRCm39) D24V possibly damaging Het
Plcb3 T C 19: 6,932,117 (GRCm39) I1124V possibly damaging Het
Ptprc A T 1: 138,045,458 (GRCm39) probably benign Het
Rab6a T C 7: 100,257,378 (GRCm39) probably benign Het
Rnf208 G T 2: 25,133,345 (GRCm39) W13L possibly damaging Het
Rps6kl1 G T 12: 85,193,675 (GRCm39) Q139K possibly damaging Het
Sdk1 T A 5: 141,941,879 (GRCm39) I509N probably damaging Het
Sephs1 A G 2: 4,898,098 (GRCm39) I170V probably benign Het
Slc17a8 C T 10: 89,442,702 (GRCm39) D44N probably benign Het
Slc23a1 T A 18: 35,755,349 (GRCm39) I489F probably damaging Het
Slc25a19 A T 11: 115,507,418 (GRCm39) Y235N probably damaging Het
Slc47a2 A G 11: 61,233,486 (GRCm39) V40A probably benign Het
Slurp2 C T 15: 74,614,917 (GRCm39) V75I probably benign Het
Smc1b A C 15: 85,005,842 (GRCm39) M354R probably benign Het
Spice1 C A 16: 44,191,115 (GRCm39) A323E possibly damaging Het
Sptbn2 T A 19: 4,798,975 (GRCm39) V2015E probably damaging Het
Sptlc2 A C 12: 87,415,857 (GRCm39) F57V probably benign Het
Srsf1 A G 11: 87,938,705 (GRCm39) N14S possibly damaging Het
Ssh2 T A 11: 77,312,192 (GRCm39) D228E probably damaging Het
Synj2 A G 17: 6,088,390 (GRCm39) *1480W probably null Het
Syt14 A T 1: 192,613,231 (GRCm39) M523K probably damaging Het
Tff3 A T 17: 31,348,516 (GRCm39) V12E probably benign Het
Tgm2 C A 2: 157,969,262 (GRCm39) C371F probably damaging Het
Tmem260 A C 14: 48,711,501 (GRCm39) I197L probably benign Het
Unc5a A G 13: 55,152,747 (GRCm39) D887G possibly damaging Het
Vstm4 G T 14: 32,641,247 (GRCm39) A277S probably benign Het
Wdtc1 A T 4: 133,021,702 (GRCm39) probably null Het
Zan A G 5: 137,466,600 (GRCm39) F419S possibly damaging Het
Zfp317 G A 9: 19,558,584 (GRCm39) R266Q probably damaging Het
Zfp931 T A 2: 177,709,595 (GRCm39) T264S possibly damaging Het
Zpld2 T C 4: 133,920,350 (GRCm39) K605R probably damaging 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
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'- GCTGATGCATCTACTTAGACCAG -3'
(R):5'- TCTTTGTAGCTTCAAACACTGTGC -3'

Sequencing Primer
(F):5'- AGACCAGCCTGTATTTACTTCCCAG -3'
(R):5'- GTAGCTTCAAACACTGTGCATTAC -3'
Posted On 2016-10-26