Incidental Mutation 'R9266:Nrcam'
ID 702557
Institutional Source Beutler Lab
Gene Symbol Nrcam
Ensembl Gene ENSMUSG00000020598
Gene Name neuronal cell adhesion molecule
Synonyms C130076O07Rik, C030017F07Rik, Bravo
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 44375668-44648747 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44636917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1117 (A1117T)
Ref Sequence ENSEMBL: ENSMUSP00000020939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000220123]
AlphaFold Q810U4
Predicted Effect probably damaging
Transcript: ENSMUST00000020939
AA Change: A1117T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: A1117T

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: A1047T

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: A1047T

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
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000220123
AA Change: A1072T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C A 17: 36,270,178 (GRCm39) E627* probably null Het
Aoc1l2 A G 6: 48,907,171 (GRCm39) N57S probably benign Het
Arhgap42 A G 9: 9,006,386 (GRCm39) V670A probably benign Het
Arhgef16 C A 4: 154,375,922 (GRCm39) R24L probably benign Het
Atad2 A T 15: 57,985,967 (GRCm39) D251E probably benign Het
Atf2 T C 2: 73,649,271 (GRCm39) S447G probably benign Het
Atp8b1 T C 18: 64,704,108 (GRCm39) M337V probably benign Het
Atp8b1 C T 18: 64,710,528 (GRCm39) D170N possibly damaging Het
Azin2 C A 4: 128,856,230 (GRCm39) probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdh19 A G 1: 110,817,771 (GRCm39) L657P probably damaging Het
Crybg3 A T 16: 59,372,544 (GRCm39) V598E probably damaging Het
Cwc22 A G 2: 77,754,952 (GRCm39) I208T probably benign Het
Cyp4a32 T A 4: 115,468,307 (GRCm39) D292E probably damaging Het
Dnah10 G A 5: 124,845,990 (GRCm39) V1510I probably benign Het
Dpp3 G T 19: 4,964,686 (GRCm39) Y540* probably null Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Elf1 A G 14: 79,798,290 (GRCm39) D59G probably benign Het
Epc1 A T 18: 6,449,219 (GRCm39) M476K probably benign Het
Espnl C A 1: 91,272,771 (GRCm39) S710R probably benign Het
Fam171b T C 2: 83,683,926 (GRCm39) W148R probably damaging Het
Fhod1 A G 8: 106,065,531 (GRCm39) L88P unknown Het
Frmd4a A G 2: 4,610,846 (GRCm39) S999G probably damaging Het
Glmp T C 3: 88,233,036 (GRCm39) I58T probably damaging Het
Gm45861 T A 8: 28,074,674 (GRCm39) D1341E unknown Het
Gpr179 A G 11: 97,227,766 (GRCm39) I1463T probably benign Het
Gsdmc2 T C 15: 63,698,088 (GRCm39) E339G probably damaging Het
Insm1 A T 2: 146,064,933 (GRCm39) I250F probably damaging Het
Insm1 G A 2: 146,064,943 (GRCm39) G253D possibly damaging Het
Itih1 A T 14: 30,652,222 (GRCm39) S824T probably damaging Het
Lactb A G 9: 66,878,499 (GRCm39) Y190H possibly damaging Het
Lrba T C 3: 86,198,774 (GRCm39) M197T probably benign Het
Lrrc4c A G 2: 97,459,853 (GRCm39) I160V probably benign Het
Lrrc59 A T 11: 94,532,044 (GRCm39) probably null Het
Ltk A T 2: 119,585,121 (GRCm39) M425K possibly damaging Het
Map9 T C 3: 82,278,594 (GRCm39) V198A possibly damaging Het
Mms22l T C 4: 24,578,878 (GRCm39) Y746H probably damaging Het
Ms4a4b A G 19: 11,432,060 (GRCm39) I60M probably benign Het
Mtif2 T C 11: 29,480,065 (GRCm39) W44R probably benign Het
Nadsyn1 A T 7: 143,369,348 (GRCm39) W128R probably damaging Het
Ntng1 G A 3: 110,050,923 (GRCm39) probably benign Het
Ntng1 A G 3: 110,051,162 (GRCm39) F56L unknown Het
Oas2 A T 5: 120,887,637 (GRCm39) Y68N probably damaging Het
Or4c119 A T 2: 88,986,854 (GRCm39) F222I possibly damaging Het
Or5b101 A C 19: 13,005,648 (GRCm39) L15R probably damaging Het
Or6c6c T C 10: 129,541,547 (GRCm39) S267P probably benign Het
Pals2 T C 6: 50,140,463 (GRCm39) M161T probably benign Het
Paqr8 C T 1: 21,005,863 (GRCm39) T339I probably benign Het
Pcdhga10 A G 18: 37,881,814 (GRCm39) E525G probably benign Het
Psg28 T G 7: 18,161,752 (GRCm39) L250F probably benign Het
S100a13 G T 3: 90,423,170 (GRCm39) D54Y unknown Het
Slc16a4 A T 3: 107,199,788 (GRCm39) T12S probably benign Het
Slc9b1 A G 3: 135,054,468 (GRCm39) probably benign Het
Slit3 T C 11: 35,598,808 (GRCm39) S1471P probably damaging Het
Smpdl3a T C 10: 57,678,596 (GRCm39) V133A possibly damaging Het
Snap23 C T 2: 120,414,781 (GRCm39) probably benign Het
Spp2 A G 1: 88,344,975 (GRCm39) M146V probably benign Het
Syf2 C A 4: 134,663,321 (GRCm39) N164K possibly damaging Het
Sync T G 4: 129,187,179 (GRCm39) Y70* probably null Het
Tex56 A G 13: 35,116,569 (GRCm39) K106R possibly damaging Het
Tmigd3 T C 3: 105,824,216 (GRCm39) F62L probably benign Het
Trpa1 C T 1: 14,980,953 (GRCm39) probably null Het
U2surp A T 9: 95,366,468 (GRCm39) I480N probably damaging Het
Usf3 C T 16: 44,040,095 (GRCm39) T1525I probably damaging Het
Vmn2r2 T C 3: 64,024,057 (GRCm39) I841M probably damaging Het
Zfp335 T A 2: 164,738,007 (GRCm39) Q868L probably benign Het
Zscan10 A G 17: 23,828,385 (GRCm39) E309G possibly 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
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
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
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'- ATCAGGGTGTGGTAGCACTTAATC -3'
(R):5'- AGAAGATCCTGTCCCTACTCC -3'

Sequencing Primer
(F):5'- CTCATTGGTGATTGGCAGATTCC -3'
(R):5'- GAAGATCCTGTCCCTACTCCTATATC -3'
Posted On 2022-03-25