Incidental Mutation 'R5654:Nrcam'
ID 442192
Institutional Source Beutler Lab
Gene Symbol Nrcam
Ensembl Gene ENSMUSG00000020598
Gene Name neuronal cell adhesion molecule
Synonyms C130076O07Rik, C030017F07Rik, Bravo
MMRRC Submission 043300-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5654 (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 44610841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 520 (T520A)
Ref Sequence ENSEMBL: ENSMUSP00000151844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000220123]
AlphaFold Q810U4
Predicted Effect probably benign
Transcript: ENSMUST00000020939
AA Change: T514A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: T514A

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: T514A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: T514A

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: T520A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220130
Meta Mutation Damage Score 0.0635 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 96% (69/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 T C 1: 75,151,479 (GRCm39) probably null Het
Abcc9 G A 6: 142,571,371 (GRCm39) probably benign Het
Acss2 T C 2: 155,416,575 (GRCm39) probably benign Het
Atp8b4 G A 2: 126,217,725 (GRCm39) T597I probably damaging Het
Btaf1 A T 19: 36,961,015 (GRCm39) N796I probably benign Het
Caskin2 T C 11: 115,690,905 (GRCm39) probably null Het
Cdhr2 A G 13: 54,884,349 (GRCm39) N1295D probably benign Het
Cog3 G A 14: 75,962,239 (GRCm39) T534M probably benign Het
Cpne1 A G 2: 155,919,561 (GRCm39) S303P probably damaging Het
Cs G A 10: 128,187,086 (GRCm39) G74S possibly damaging Het
Cyb5r4 G T 9: 86,929,533 (GRCm39) S229I probably damaging Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Ect2l C T 10: 18,018,810 (GRCm39) V529M probably damaging Het
Edaradd C A 13: 12,493,161 (GRCm39) R177L possibly damaging Het
Esf1 T C 2: 140,006,148 (GRCm39) D333G possibly damaging Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fbxl18 A G 5: 142,871,558 (GRCm39) I559T probably damaging Het
Fcrl2 A C 3: 87,164,851 (GRCm39) V225G probably benign Het
Ido1 C T 8: 25,077,819 (GRCm39) V83M probably damaging Het
Iffo1 T G 6: 125,130,030 (GRCm39) C419G probably damaging Het
Igfals A T 17: 25,100,439 (GRCm39) Y510F probably benign Het
Ipo9 A T 1: 135,313,210 (GRCm39) Y1006* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jmjd1c T A 10: 67,065,785 (GRCm39) S1737T probably benign Het
Klhl32 C T 4: 24,800,805 (GRCm39) probably null Het
Klk1b11 T A 7: 43,427,810 (GRCm39) C173S probably damaging Het
Klk1b24 A T 7: 43,840,889 (GRCm39) M106L probably benign Het
Lamp1 G A 8: 13,221,388 (GRCm39) probably null Het
Mapk4 A T 18: 74,103,365 (GRCm39) V48E probably damaging Het
Marchf6 A T 15: 31,486,082 (GRCm39) D395E probably damaging Het
Mdp1 A G 14: 55,896,465 (GRCm39) F157S probably damaging Het
Mettl21e A T 1: 44,250,255 (GRCm39) F50L probably damaging Het
Mrgpra2a A G 7: 47,077,153 (GRCm39) I35T probably benign Het
Natd1 T C 11: 60,796,892 (GRCm39) Y91C probably damaging Het
Nbas T A 12: 13,633,476 (GRCm39) Y2294N probably damaging Het
Nrf1 A G 6: 30,117,061 (GRCm39) T324A probably benign Het
Or10a2 G A 7: 106,673,394 (GRCm39) A120T probably damaging Het
Or4k51 T A 2: 111,585,326 (GRCm39) I244N probably damaging Het
Or52a5 A C 7: 103,427,182 (GRCm39) D123E probably damaging Het
Or5m11b A G 2: 85,806,500 (GRCm39) I304M probably benign Het
Pam C T 1: 97,792,123 (GRCm39) V433I probably benign Het
Pck1 T A 2: 173,000,353 (GRCm39) Y595N probably damaging Het
Per2 C T 1: 91,373,223 (GRCm39) probably null Het
Piezo2 G C 18: 63,278,162 (GRCm39) F247L possibly damaging Het
Pkdcc A G 17: 83,523,337 (GRCm39) Y148C probably damaging Het
Plod2 A G 9: 92,475,876 (GRCm39) T320A probably benign Het
Ppip5k1 G A 2: 121,147,157 (GRCm39) R1155C probably benign Het
Ppp1r15b C T 1: 133,059,382 (GRCm39) probably benign Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Ptprz1 G T 6: 22,986,133 (GRCm39) C311F probably damaging Het
Rab11fip3 A T 17: 26,235,038 (GRCm39) V44E probably damaging Het
Rpl5 T A 5: 108,051,514 (GRCm39) probably benign Het
Rttn G A 18: 89,066,556 (GRCm39) V1201I probably benign Het
Sdk1 A G 5: 141,921,853 (GRCm39) N283S probably damaging Het
Shank3 T A 15: 89,405,529 (GRCm39) N418K probably benign Het
Shmt2 T C 10: 127,353,668 (GRCm39) D499G probably benign Het
Slc25a46 A G 18: 31,716,293 (GRCm39) L403S probably damaging Het
Slc5a1 A G 5: 33,303,955 (GRCm39) T257A probably benign Het
Snrnp35 T C 5: 124,628,535 (GRCm39) V116A probably benign Het
Spag9 T A 11: 93,981,538 (GRCm39) F593I probably damaging Het
Tmem171 C A 13: 98,828,574 (GRCm39) R192L probably benign Het
Trappc3l T A 10: 33,978,703 (GRCm39) L169Q unknown Het
Ube2s T C 7: 4,811,431 (GRCm39) E148G probably damaging Het
Uspl1 T C 5: 149,146,521 (GRCm39) F424S probably damaging Het
Vmn1r2 T C 4: 3,172,261 (GRCm39) V60A probably benign Het
Wdfy4 T C 14: 32,829,575 (GRCm39) probably null Het
Zfp735 C T 11: 73,602,964 (GRCm39) S636L possibly damaging Het
Zswim9 G A 7: 12,995,094 (GRCm39) S354F 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
R5593:Nrcam UTSW 12 44,606,483 (GRCm39) missense probably damaging 1.00
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'- CAGAATGTCTTTGACCTTGATGC -3'
(R):5'- TCAAAGGACACCTTGCTCCC -3'

Sequencing Primer
(F):5'- ATGCTTGCTGCTGGCCAC -3'
(R):5'- ACGACTGCATACTCAGGTTG -3'
Posted On 2016-11-09