Incidental Mutation 'R5297:Nrcam'
ID 405502
Institutional Source Beutler Lab
Gene Symbol Nrcam
Ensembl Gene ENSMUSG00000020598
Gene Name neuronal cell adhesion molecule
Synonyms C030017F07Rik, Bravo, C130076O07Rik
MMRRC Submission 042880-MU
Accession Numbers

Genbank: NM_176930.4, NM_001146031.1,

Essential gene? Non essential (E-score: 0.000) question?
Stock # R5297 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 44328885-44601964 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44544784 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 204 (F204L)
Ref Sequence ENSEMBL: ENSMUSP00000151844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020939] [ENSMUST00000110748] [ENSMUST00000218431] [ENSMUST00000219939] [ENSMUST00000220123] [ENSMUST00000220126]
AlphaFold Q810U4
Predicted Effect probably damaging
Transcript: ENSMUST00000020939
AA Change: F198L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020939
Gene: ENSMUSG00000020598
AA Change: F198L

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: F198L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106376
Gene: ENSMUSG00000020598
AA Change: F198L

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 damaging
Transcript: ENSMUST00000218431
AA Change: F204L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219592
Predicted Effect probably benign
Transcript: ENSMUST00000219906
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219928
Predicted Effect probably benign
Transcript: ENSMUST00000219939
Predicted Effect probably damaging
Transcript: ENSMUST00000220123
AA Change: F204L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000220126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220130
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 G T 1: 155,587,458 (GRCm38) A135S probably benign Het
Agbl4 A G 4: 111,566,698 (GRCm38) K307R possibly damaging Het
AI481877 A G 4: 59,047,543 (GRCm38) W1359R probably benign Het
Akna T C 4: 63,381,846 (GRCm38) E653G possibly damaging Het
Arhgap26 T C 18: 39,121,888 (GRCm38) Y273H probably damaging Het
Atg14 G A 14: 47,568,199 (GRCm38) R70C probably damaging Het
Atp1a1 C T 3: 101,591,127 (GRCm38) V250M possibly damaging Het
Cacna1c T G 6: 118,742,361 (GRCm38) D215A probably damaging Het
Cadps T A 14: 12,822,345 (GRCm38) N132Y probably damaging Het
Casp6 T C 3: 129,910,555 (GRCm38) F97L possibly damaging Het
Ckap2l T C 2: 129,285,370 (GRCm38) N296S possibly damaging Het
Col6a4 T C 9: 106,074,867 (GRCm38) K611E probably benign Het
Copa A G 1: 172,113,108 (GRCm38) H696R probably damaging Het
Cyp2a4 T A 7: 26,312,204 (GRCm38) N283K probably benign Het
Dcc C T 18: 71,378,738 (GRCm38) V869I probably benign Het
Efemp1 G T 11: 28,867,868 (GRCm38) G116C probably damaging Het
F830045P16Rik T C 2: 129,460,553 (GRCm38) E373G probably benign Het
Fbxo9 T C 9: 78,086,279 (GRCm38) T318A probably benign Het
Gipr A G 7: 19,157,544 (GRCm38) W403R probably damaging Het
Gm10093 A G 17: 78,492,758 (GRCm38) S393G probably benign Het
Gm12794 T A 4: 101,941,151 (GRCm38) D106E possibly damaging Het
Gm4787 G C 12: 81,377,830 (GRCm38) T518S probably benign Het
Golgb1 G A 16: 36,875,616 (GRCm38) probably benign Het
Herc3 T C 6: 58,856,641 (GRCm38) L171P probably damaging Het
Il5ra A G 6: 106,738,134 (GRCm38) I221T probably benign Het
Itgb2 A G 10: 77,564,667 (GRCm38) I705V probably damaging Het
Map4k4 G T 1: 39,962,217 (GRCm38) V55F probably damaging Het
Mast1 A G 8: 84,913,318 (GRCm38) probably null Het
Mitf G T 6: 97,994,430 (GRCm38) G186V probably benign Het
Mtpn C T 6: 35,512,290 (GRCm38) D100N probably benign Het
Olfr1 AGCGGTCGTAGGC AGC 11: 73,395,654 (GRCm38) probably null Het
Olfr1111 T C 2: 87,150,449 (GRCm38) I71V probably benign Het
Olfr1510 A G 14: 52,410,218 (GRCm38) L218P probably damaging Het
Olfr248 A G 1: 174,391,200 (GRCm38) M44V probably benign Het
Olfr381 A T 11: 73,486,389 (GRCm38) V145E probably damaging Het
Olfr446 T C 6: 42,927,437 (GRCm38) S69P probably benign Het
Olfr503 A T 7: 108,545,404 (GRCm38) N291I probably damaging Het
Pclo A T 5: 14,676,249 (GRCm38) probably benign Het
Pik3ca T A 3: 32,450,053 (GRCm38) Y631N probably damaging Het
Ptk2b T C 14: 66,172,517 (GRCm38) D462G probably benign Het
Rnf19a A G 15: 36,247,778 (GRCm38) S427P probably damaging Het
Scn3a T A 2: 65,469,034 (GRCm38) Y1376F possibly damaging Het
Spem1 A G 11: 69,820,927 (GRCm38) Y304H probably damaging Het
Stk38l C A 6: 146,775,655 (GRCm38) Y450* probably null Het
Stx19 A G 16: 62,821,974 (GRCm38) E51G probably damaging Het
Ttc41 C G 10: 86,776,579 (GRCm38) Q1239E probably benign Het
Tuba3a C T 6: 125,281,340 (GRCm38) R229H probably damaging Het
Utp18 A T 11: 93,876,089 (GRCm38) V264D probably damaging Het
V1rd19 T C 7: 24,003,289 (GRCm38) V60A probably damaging Het
Virma T G 4: 11,494,819 (GRCm38) V40G probably damaging Het
Vmn1r160 C T 7: 22,871,290 (GRCm38) Q23* probably null Het
Vmn2r13 T C 5: 109,191,939 (GRCm38) I57V probably benign Het
Vmn2r26 T A 6: 124,061,873 (GRCm38) F802L probably damaging Het
Vmn2r61 A G 7: 42,260,222 (GRCm38) D57G probably benign Het
Vps13c A G 9: 67,878,131 (GRCm38) N260S probably damaging Het
Xirp1 C A 9: 120,019,602 (GRCm38) A72S probably damaging Het
Zfp212 T C 6: 47,929,077 (GRCm38) V190A probably benign Het
Zfp703 C T 8: 26,979,205 (GRCm38) P299L probably damaging Het
Other mutations in Nrcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Nrcam APN 12 44,575,884 (GRCm38) missense probably benign 0.27
IGL01657:Nrcam APN 12 44,559,800 (GRCm38) missense probably damaging 1.00
IGL02434:Nrcam APN 12 44,590,243 (GRCm38) splice site probably benign
IGL02455:Nrcam APN 12 44,570,530 (GRCm38) missense probably damaging 1.00
IGL02712:Nrcam APN 12 44,573,827 (GRCm38) missense probably damaging 1.00
IGL02834:Nrcam APN 12 44,541,075 (GRCm38) critical splice donor site probably null
IGL03022:Nrcam APN 12 44,598,442 (GRCm38) missense probably damaging 1.00
IGL03174:Nrcam APN 12 44,576,006 (GRCm38) splice site probably benign
IGL03389:Nrcam APN 12 44,549,906 (GRCm38) missense probably benign 0.00
IGL03397:Nrcam APN 12 44,559,757 (GRCm38) missense probably damaging 1.00
I2288:Nrcam UTSW 12 44,564,315 (GRCm38) missense probably benign 0.06
I2289:Nrcam UTSW 12 44,564,315 (GRCm38) missense probably benign 0.06
R0063:Nrcam UTSW 12 44,550,028 (GRCm38) missense possibly damaging 0.49
R0063:Nrcam UTSW 12 44,550,028 (GRCm38) missense possibly damaging 0.49
R0195:Nrcam UTSW 12 44,584,845 (GRCm38) missense probably benign 0.00
R0463:Nrcam UTSW 12 44,551,341 (GRCm38) missense probably damaging 1.00
R0590:Nrcam UTSW 12 44,564,032 (GRCm38) missense probably damaging 1.00
R0674:Nrcam UTSW 12 44,564,322 (GRCm38) missense probably benign 0.17
R0930:Nrcam UTSW 12 44,549,884 (GRCm38) missense probably benign
R1241:Nrcam UTSW 12 44,590,164 (GRCm38) missense probably damaging 1.00
R1279:Nrcam UTSW 12 44,544,877 (GRCm38) splice site probably null
R1523:Nrcam UTSW 12 44,572,249 (GRCm38) missense probably damaging 1.00
R1572:Nrcam UTSW 12 44,537,364 (GRCm38) splice site probably benign
R1629:Nrcam UTSW 12 44,563,986 (GRCm38) missense probably benign 0.00
R1651:Nrcam UTSW 12 44,576,679 (GRCm38) missense probably damaging 0.97
R1729:Nrcam UTSW 12 44,573,850 (GRCm38) missense probably benign
R1739:Nrcam UTSW 12 44,571,675 (GRCm38) missense probably damaging 1.00
R1803:Nrcam UTSW 12 44,572,208 (GRCm38) missense probably benign
R1884:Nrcam UTSW 12 44,544,755 (GRCm38) missense probably damaging 1.00
R1974:Nrcam UTSW 12 44,563,993 (GRCm38) missense probably benign 0.05
R1992:Nrcam UTSW 12 44,540,970 (GRCm38) missense probably damaging 1.00
R2102:Nrcam UTSW 12 44,576,688 (GRCm38) missense probably benign 0.00
R2106:Nrcam UTSW 12 44,570,290 (GRCm38) missense probably benign 0.12
R3854:Nrcam UTSW 12 44,575,884 (GRCm38) missense probably benign 0.27
R4005:Nrcam UTSW 12 44,532,646 (GRCm38) missense probably benign
R4088:Nrcam UTSW 12 44,572,202 (GRCm38) missense possibly damaging 0.93
R4115:Nrcam UTSW 12 44,566,326 (GRCm38) missense possibly damaging 0.87
R4428:Nrcam UTSW 12 44,576,775 (GRCm38) missense possibly damaging 0.95
R4458:Nrcam UTSW 12 44,559,730 (GRCm38) missense probably damaging 1.00
R4580:Nrcam UTSW 12 44,562,540 (GRCm38) critical splice donor site probably null
R4601:Nrcam UTSW 12 44,591,056 (GRCm38) missense probably damaging 1.00
R4688:Nrcam UTSW 12 44,547,237 (GRCm38) missense probably benign
R4825:Nrcam UTSW 12 44,575,986 (GRCm38) nonsense probably null
R4838:Nrcam UTSW 12 44,574,019 (GRCm38) missense probably damaging 1.00
R4950:Nrcam UTSW 12 44,598,490 (GRCm38) missense probably damaging 1.00
R4960:Nrcam UTSW 12 44,566,299 (GRCm38) missense probably benign 0.01
R5081:Nrcam UTSW 12 44,570,353 (GRCm38) missense probably benign 0.00
R5504:Nrcam UTSW 12 44,564,132 (GRCm38) critical splice donor site probably null
R5593:Nrcam UTSW 12 44,559,700 (GRCm38) missense probably damaging 1.00
R5654:Nrcam UTSW 12 44,564,058 (GRCm38) missense probably benign
R5691:Nrcam UTSW 12 44,564,256 (GRCm38) missense probably damaging 1.00
R5890:Nrcam UTSW 12 44,576,771 (GRCm38) missense probably benign
R5937:Nrcam UTSW 12 44,572,291 (GRCm38) missense probably benign 0.00
R5980:Nrcam UTSW 12 44,571,633 (GRCm38) missense probably damaging 1.00
R6132:Nrcam UTSW 12 44,570,224 (GRCm38) missense probably damaging 1.00
R6213:Nrcam UTSW 12 44,562,432 (GRCm38) missense possibly damaging 0.90
R6334:Nrcam UTSW 12 44,572,300 (GRCm38) missense probably benign
R6617:Nrcam UTSW 12 44,540,963 (GRCm38) missense probably damaging 1.00
R6666:Nrcam UTSW 12 44,571,555 (GRCm38) missense probably damaging 1.00
R7191:Nrcam UTSW 12 44,572,244 (GRCm38) missense probably benign 0.01
R7284:Nrcam UTSW 12 44,564,034 (GRCm38) missense probably damaging 1.00
R7326:Nrcam UTSW 12 44,564,026 (GRCm38) missense possibly damaging 0.95
R7388:Nrcam UTSW 12 44,598,489 (GRCm38) missense probably damaging 1.00
R7650:Nrcam UTSW 12 44,547,322 (GRCm38) missense probably damaging 1.00
R7734:Nrcam UTSW 12 44,537,251 (GRCm38) missense possibly damaging 0.49
R7757:Nrcam UTSW 12 44,549,898 (GRCm38) nonsense probably null
R7840:Nrcam UTSW 12 44,541,075 (GRCm38) critical splice donor site probably null
R7917:Nrcam UTSW 12 44,573,763 (GRCm38) splice site probably null
R7935:Nrcam UTSW 12 44,584,861 (GRCm38) missense possibly damaging 0.92
R7955:Nrcam UTSW 12 44,584,954 (GRCm38) missense probably benign 0.26
R8117:Nrcam UTSW 12 44,598,582 (GRCm38) missense probably damaging 1.00
R8117:Nrcam UTSW 12 44,571,588 (GRCm38) missense probably benign 0.04
R8153:Nrcam UTSW 12 44,584,972 (GRCm38) missense probably benign
R8189:Nrcam UTSW 12 44,570,508 (GRCm38) missense possibly damaging 0.94
R8215:Nrcam UTSW 12 44,564,113 (GRCm38) missense probably benign 0.02
R8719:Nrcam UTSW 12 44,539,542 (GRCm38) missense probably benign
R8738:Nrcam UTSW 12 44,572,292 (GRCm38) missense possibly damaging 0.67
R8794:Nrcam UTSW 12 44,578,175 (GRCm38) missense probably benign 0.01
R8831:Nrcam UTSW 12 44,544,897 (GRCm38) critical splice donor site probably null
R8858:Nrcam UTSW 12 44,597,771 (GRCm38) splice site probably benign
R8885:Nrcam UTSW 12 44,564,125 (GRCm38) missense probably benign 0.10
R8912:Nrcam UTSW 12 44,598,583 (GRCm38) missense probably damaging 1.00
R9178:Nrcam UTSW 12 44,568,546 (GRCm38) missense possibly damaging 0.69
R9243:Nrcam UTSW 12 44,573,824 (GRCm38) missense probably damaging 1.00
R9257:Nrcam UTSW 12 44,564,054 (GRCm38) missense probably benign 0.27
R9266:Nrcam UTSW 12 44,590,134 (GRCm38) missense probably damaging 1.00
R9606:Nrcam UTSW 12 44,562,457 (GRCm38) missense probably damaging 0.97
R9623:Nrcam UTSW 12 44,590,148 (GRCm38) missense probably damaging 1.00
R9681:Nrcam UTSW 12 44,551,350 (GRCm38) missense probably null 1.00
R9747:Nrcam UTSW 12 44,598,409 (GRCm38) missense probably damaging 1.00
U24488:Nrcam UTSW 12 44,537,259 (GRCm38) missense probably damaging 1.00
X0057:Nrcam UTSW 12 44,551,416 (GRCm38) missense probably benign
X0066:Nrcam UTSW 12 44,550,029 (GRCm38) missense probably benign 0.00
Z1176:Nrcam UTSW 12 44,571,570 (GRCm38) missense probably damaging 1.00
Z1177:Nrcam UTSW 12 44,574,016 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGGAGTGTCAGCGTGTCTC -3'
(R):5'- CCTGATTTACCTCAGAGTCAAACTG -3'

Sequencing Primer
(F):5'- GAGTGTCAGCGTGTCTCCCATC -3'
(R):5'- GCTGAGCTCTTACCTGAA -3'
Posted On 2016-07-22