Incidental Mutation 'R4088:Nrcam'
ID 371060
Institutional Source Beutler Lab
Gene Symbol Nrcam
Ensembl Gene ENSMUSG00000020598
Gene Name neuronal cell adhesion molecule
Synonyms C130076O07Rik, C030017F07Rik, Bravo
MMRRC Submission 040981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4088 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 44375668-44648747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44618985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 828 (L828P)
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: L838P

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: L838P

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 possibly damaging
Transcript: ENSMUST00000110748
AA Change: L828P

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: L828P

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 possibly damaging
Transcript: ENSMUST00000220123
AA Change: L844P

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220130
Meta Mutation Damage Score 0.2176 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (55/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik T C 1: 181,055,274 (GRCm39) noncoding transcript Het
Alox12b G T 11: 69,049,211 (GRCm39) V87L probably benign Het
Arsk T G 13: 76,246,533 (GRCm39) N32T probably benign Het
Baz1b T A 5: 135,245,794 (GRCm39) N414K probably damaging Het
Cacna1e A T 1: 154,287,929 (GRCm39) probably null Het
Cdc73 A G 1: 143,484,252 (GRCm39) probably benign Het
Cdhr2 A G 13: 54,865,701 (GRCm39) D233G probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cyp2b9 T C 7: 25,872,881 (GRCm39) L8P probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dnajc6 T A 4: 101,496,593 (GRCm39) V920E probably damaging Het
Eef2kmt A T 16: 5,070,899 (GRCm39) I50N probably damaging Het
Esyt3 T C 9: 99,206,290 (GRCm39) M40V probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gpr26 G T 7: 131,568,805 (GRCm39) C50F probably benign Het
Hmcn1 A G 1: 150,578,967 (GRCm39) I1993T possibly damaging Het
Hsdl2 T A 4: 59,610,636 (GRCm39) L211Q unknown Het
Khdrbs2 A G 1: 32,372,605 (GRCm39) E93G probably damaging Het
Kif13b T C 14: 65,004,904 (GRCm39) probably null Het
Kif15 T A 9: 122,815,254 (GRCm39) L423I probably benign Het
Kmt2c A G 5: 25,492,711 (GRCm39) V834A probably benign Het
Lama3 T A 18: 12,637,365 (GRCm39) Y28* probably null Het
Map4k2 A T 19: 6,403,186 (GRCm39) H763L probably damaging Het
Mrtfb T C 16: 13,202,064 (GRCm39) F120S probably damaging Het
Ndufs3 C T 2: 90,728,689 (GRCm39) probably benign Het
Nfasc A T 1: 132,523,329 (GRCm39) V887E probably damaging Het
Npsr1 G A 9: 24,225,065 (GRCm39) E358K possibly damaging Het
Oprm1 T C 10: 6,780,234 (GRCm39) Y299H probably damaging Het
Or1j15 T A 2: 36,459,030 (GRCm39) L140H probably damaging Het
Osbpl8 T C 10: 111,125,651 (GRCm39) V777A possibly damaging Het
Pcnt T C 10: 76,263,848 (GRCm39) E372G probably damaging Het
Plekhh2 T C 17: 84,925,427 (GRCm39) V1408A probably benign Het
Sbk2 T C 7: 4,960,627 (GRCm39) Y181C probably damaging Het
Sf1 G A 19: 6,418,470 (GRCm39) probably null Het
Slc26a9 A G 1: 131,695,587 (GRCm39) E765G possibly damaging Het
Stab2 A G 10: 86,758,049 (GRCm39) L1073P probably damaging Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taar3 A G 10: 23,825,757 (GRCm39) D101G possibly damaging Het
Thsd4 T C 9: 59,904,505 (GRCm39) R204G probably benign Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Ttn G A 2: 76,748,114 (GRCm39) Q4312* probably null Het
Ubtfl1 T C 9: 18,321,264 (GRCm39) V264A probably damaging Het
Vmn1r58 C A 7: 5,413,654 (GRCm39) W192L probably damaging Het
Washc5 C A 15: 59,211,711 (GRCm39) C969F probably damaging Het
Zdhhc14 A G 17: 5,777,131 (GRCm39) K296R probably benign Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Zfp9 G T 6: 118,441,730 (GRCm39) P311T 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
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 44,645,365 (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'- CCAAATCCAGAGCTTGAGGG -3'
(R):5'- ACCATGGCCCTGCTACTAAG -3'

Sequencing Primer
(F):5'- GTGAAAGTTTGCAGTATCAAAGTTGC -3'
(R):5'- TGGCCCTGCTACTAAGTAAAG -3'
Posted On 2016-02-10