Incidental Mutation 'R1523:Nrcam'
ID 167661
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 # R1523 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 44375668-44648747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44619032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 844 (T844A)
Ref Sequence ENSEMBL: ENSMUSP00000106376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000220123]
AlphaFold Q810U4
Predicted Effect probably damaging
Transcript: ENSMUST00000020939
AA Change: T854A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: T854A

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: T844A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: T844A

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: T860A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220130
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik G T 11: 83,331,232 (GRCm39) E48* probably null Het
4930503B20Rik A G 3: 146,356,864 (GRCm39) S15P probably damaging Het
5530400C23Rik A G 6: 133,271,256 (GRCm39) E100G possibly damaging Het
Abcg2 T C 6: 58,662,679 (GRCm39) F507S possibly damaging Het
Adgrf5 A T 17: 43,761,044 (GRCm39) Q913L probably benign Het
Ak7 A T 12: 105,732,867 (GRCm39) N537I probably benign Het
Anks1 T A 17: 28,270,629 (GRCm39) probably null Het
Arhgap32 T A 9: 32,168,048 (GRCm39) V677D probably damaging Het
Ark2c G A 18: 77,550,634 (GRCm39) T98I probably benign Het
Arnt C T 3: 95,396,965 (GRCm39) P466L possibly damaging Het
Arrb1 T G 7: 99,243,872 (GRCm39) L274R probably damaging Het
Atf2 A T 2: 73,693,552 (GRCm39) D3E probably damaging Het
Baz2b C T 2: 59,798,981 (GRCm39) R381Q possibly damaging Het
Cacna1g C T 11: 94,333,555 (GRCm39) probably null Het
Ccr10 C T 11: 101,064,501 (GRCm39) R343Q probably damaging Het
Clca3a2 G T 3: 144,777,405 (GRCm39) S822* probably null Het
Col12a1 A T 9: 79,568,278 (GRCm39) Y1649N probably benign Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Cp T C 3: 20,043,229 (GRCm39) Y1006H probably benign Het
Ctbs A G 3: 146,160,735 (GRCm39) T101A probably benign Het
Cyp4a31 T C 4: 115,426,951 (GRCm39) F170L probably benign Het
Dock1 A C 7: 134,345,976 (GRCm39) I173L possibly damaging Het
Dock4 A G 12: 40,743,024 (GRCm39) D393G possibly damaging Het
Dsg1a T A 18: 20,455,374 (GRCm39) S113T probably damaging Het
Epha3 T C 16: 63,431,311 (GRCm39) D530G probably damaging Het
Erbb4 T A 1: 68,435,411 (GRCm39) H162L possibly damaging Het
Fam131c C T 4: 141,110,142 (GRCm39) T180I probably benign Het
Fndc1 A G 17: 7,992,041 (GRCm39) S552P unknown Het
Foxf1 A G 8: 121,811,297 (GRCm39) probably null Het
Frem2 T C 3: 53,562,828 (GRCm39) T560A possibly damaging Het
Gabra4 G A 5: 71,790,975 (GRCm39) T289M probably damaging Het
Gcnt1 A G 19: 17,307,197 (GRCm39) V176A probably damaging Het
Gemin8 G A X: 164,963,644 (GRCm39) S100N probably benign Het
Gm1527 T C 3: 28,974,567 (GRCm39) I460T probably damaging Het
Gm6729 A G 10: 86,376,039 (GRCm39) noncoding transcript Het
Gprin2 T C 14: 33,917,036 (GRCm39) S245G probably benign Het
Gsdmc A T 15: 63,675,479 (GRCm39) I112N probably damaging Het
Hspb6 A G 7: 30,252,848 (GRCm39) D30G probably benign Het
Hydin A G 8: 111,259,903 (GRCm39) D2625G probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf2 T A 8: 47,290,875 (GRCm39) probably null Het
Kdm3b T C 18: 34,926,226 (GRCm39) probably null Het
Khdc3 G A 9: 73,010,773 (GRCm39) E208K possibly damaging Het
Kifc1 A T 17: 34,102,636 (GRCm39) S263T probably benign Het
Lrig3 C A 10: 125,844,567 (GRCm39) T677K probably damaging Het
Magec2 T A X: 61,334,512 (GRCm39) D177E probably benign Het
Mapkapk3 A T 9: 107,140,822 (GRCm39) probably null Het
Mertk T C 2: 128,632,248 (GRCm39) probably null Het
Metrn A G 17: 26,013,951 (GRCm39) *292R probably null Het
Mllt6 G T 11: 97,555,849 (GRCm39) A60S probably damaging Het
Mmp21 T C 7: 133,280,774 (GRCm39) I65M probably benign Het
Myo7b A G 18: 32,099,929 (GRCm39) L1651P probably damaging Het
Nhsl1 A G 10: 18,284,103 (GRCm39) S15G probably benign Het
Nos1ap T C 1: 170,165,687 (GRCm39) D192G probably benign Het
Pax4 A G 6: 28,444,840 (GRCm39) L203P probably damaging Het
Pbld2 T C 10: 62,912,212 (GRCm39) I280T probably benign Het
Pclo A G 5: 14,838,420 (GRCm39) Y4681C unknown Het
Phyhip T A 14: 70,699,200 (GRCm39) M1K probably null Het
Plppr4 T C 3: 117,116,490 (GRCm39) N456D probably damaging Het
Prpf31 T C 7: 3,643,856 (GRCm39) Y473H probably damaging Het
Rapgef2 A T 3: 79,000,056 (GRCm39) V564D probably damaging Het
Rexo1 T C 10: 80,378,585 (GRCm39) S1123G probably benign Het
Rnasel C A 1: 153,631,759 (GRCm39) Q513K probably damaging Het
Rnf213 T C 11: 119,332,714 (GRCm39) V2641A probably damaging Het
Rnf40 G T 7: 127,189,787 (GRCm39) R184L probably damaging Het
Rnf8 A G 17: 29,845,946 (GRCm39) K179R probably damaging Het
Sipa1l2 C T 8: 126,174,352 (GRCm39) D1309N possibly damaging Het
Slc25a38 T A 9: 119,952,769 (GRCm39) M307K possibly damaging Het
Snx33 T C 9: 56,833,466 (GRCm39) D201G possibly damaging Het
Sulf1 T A 1: 12,887,574 (GRCm39) Y249* probably null Het
Sult2a4 G A 7: 13,643,785 (GRCm39) Q261* probably null Het
Syndig1 G A 2: 149,845,154 (GRCm39) A226T probably damaging Het
Tcaf2 C T 6: 42,601,385 (GRCm39) W891* probably null Het
Tcf15 C A 2: 151,985,808 (GRCm39) T88K probably damaging Het
Tmem19 A T 10: 115,183,122 (GRCm39) M117K probably damaging Het
Trim32 T C 4: 65,532,241 (GRCm39) L266P probably benign Het
Vmn2r11 T C 5: 109,201,707 (GRCm39) I266V probably benign Het
Vmn2r73 A T 7: 85,519,486 (GRCm39) Y491N probably benign Het
Wrn C T 8: 33,782,744 (GRCm39) E486K probably benign Het
Zfp457 T C 13: 67,441,501 (GRCm39) E262G probably damaging Het
Zfp598 A G 17: 24,897,603 (GRCm39) D308G probably null Het
Zup1 T C 10: 33,803,436 (GRCm39) I549M 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
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 44,645,365 (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'- TGGCAGAGCACTTTCCTACCACCT -3'
(R):5'- GTGAAGTCCTAAATGCAAACACGGACA -3'

Sequencing Primer
(F):5'- TTCCAAATCCAGAGCTTGAGG -3'
(R):5'- ACGGACAAACCACATCATTTC -3'
Posted On 2014-04-13