Incidental Mutation 'IGL02616:Ncam1'
ID300661
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncam1
Ensembl Gene ENSMUSG00000039542
Gene Nameneural cell adhesion molecule 1
SynonymsNCAM-140, E-NCAM, NCAM-180, NCAM-1, CD56, NCAM-120, NCAM
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.922) question?
Stock #IGL02616
Quality Score
Status
Chromosome9
Chromosomal Location49502136-49798925 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49508688 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 776 (E776G)
Ref Sequence ENSEMBL: ENSMUSP00000142275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166811] [ENSMUST00000193547]
Predicted Effect unknown
Transcript: ENSMUST00000166811
AA Change: E777G
SMART Domains Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542
AA Change: E777G

DomainStartEndE-ValueType
IGc2 32 103 2.88e-4 SMART
IGc2 130 196 6.35e-6 SMART
IGc2 226 295 6.38e-20 SMART
IGc2 321 393 4.12e-14 SMART
IGc2 418 487 9.7e-11 SMART
FN3 501 586 4.77e-8 SMART
FN3 602 683 6.97e-1 SMART
transmembrane domain 706 728 N/A INTRINSIC
low complexity region 797 809 N/A INTRINSIC
low complexity region 814 830 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193547
AA Change: E776G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542
AA Change: E776G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 32 103 2.88e-4 SMART
IGc2 130 196 6.35e-6 SMART
IGc2 226 295 6.38e-20 SMART
IGc2 321 393 4.12e-14 SMART
IGc2 418 487 9.7e-11 SMART
FN3 501 586 4.77e-8 SMART
FN3 602 683 6.97e-1 SMART
transmembrane domain 706 728 N/A INTRINSIC
low complexity region 797 809 N/A INTRINSIC
low complexity region 814 830 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000194252
AA Change: E749G
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutants show impairment in Morris water maze test, reduced brain and olfactory bulb size, hypoplasic corticospinal tract, abnormally distributed anterior pituitary cell types, and morphological and functional defects of neuromuscular junctions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,161,662 R190G probably benign Het
4931406B18Rik T C 7: 43,501,013 probably null Het
Adcy4 T C 14: 55,783,514 probably null Het
Ahnak C A 19: 9,005,627 P1425Q probably benign Het
Arih1 A G 9: 59,412,476 V285A probably benign Het
Atp13a1 T C 8: 69,805,313 V906A probably benign Het
Atp2a2 A T 5: 122,461,684 I548N probably benign Het
C2cd5 A T 6: 143,035,111 S643T probably benign Het
Calcoco1 T C 15: 102,715,850 D210G probably damaging Het
Cep128 A G 12: 91,296,258 I289T probably benign Het
Ces1c C T 8: 93,106,615 M407I probably benign Het
Cntln T G 4: 85,115,452 probably null Het
Cypt12 T A 3: 17,948,728 H88Q possibly damaging Het
Ddc T A 11: 11,880,645 probably benign Het
Dnajb12 T C 10: 59,892,863 probably null Het
Gata2 A G 6: 88,205,480 T477A possibly damaging Het
Gckr A G 5: 31,327,075 D619G probably benign Het
Gm5699 A T 1: 30,998,351 noncoding transcript Het
Gm8257 T A 14: 44,655,226 S106C probably damaging Het
Gpr15 A C 16: 58,718,204 L174R probably damaging Het
Hnrnph3 T A 10: 63,019,485 H7L possibly damaging Het
Ide A T 19: 37,298,056 I518N unknown Het
Igdcc4 G A 9: 65,133,078 G957D probably damaging Het
Igsf10 G A 3: 59,318,606 P2549S probably benign Het
Kcnj9 A G 1: 172,325,964 S198P probably damaging Het
Lclat1 T C 17: 73,169,533 I45T probably benign Het
Met T C 6: 17,553,347 L1044S probably damaging Het
Msh4 T C 3: 153,857,523 T739A probably benign Het
Ndufv3 G A 17: 31,527,669 V178M probably damaging Het
Nlgn1 T C 3: 25,434,245 Y613C probably damaging Het
Nmbr T C 10: 14,760,687 probably benign Het
Orc1 T A 4: 108,595,479 W184R probably benign Het
Pde6b T C 5: 108,431,541 S850P probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pnpt1 T C 11: 29,135,505 probably benign Het
Pomt2 T A 12: 87,124,862 H378L probably damaging Het
Sh3gl3 C T 7: 82,285,018 probably benign Het
Thsd7a A T 6: 12,408,985 N679K probably damaging Het
Tns2 T C 15: 102,111,415 M572T probably benign Het
Twf2 C T 9: 106,212,756 Q103* probably null Het
Uncx T C 5: 139,546,768 I196T possibly damaging Het
Urgcp A G 11: 5,717,400 S313P probably damaging Het
Vmn1r222 A T 13: 23,232,141 C301S possibly damaging Het
Vmn2r111 T A 17: 22,571,050 Q325L possibly damaging Het
Vps4a C T 8: 107,042,277 R236W probably damaging Het
Wdr19 T A 5: 65,223,581 H344Q probably damaging Het
Wiz A T 17: 32,359,469 D356E probably damaging Het
Zc3h10 T C 10: 128,544,882 E202G probably benign Het
Other mutations in Ncam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Ncam1 APN 9 49523565 missense probably damaging 1.00
IGL01384:Ncam1 APN 9 49509852 missense possibly damaging 0.76
IGL01798:Ncam1 APN 9 49508607 missense probably damaging 1.00
IGL02239:Ncam1 APN 9 49567402 missense probably damaging 1.00
IGL02368:Ncam1 APN 9 49543083 nonsense probably null
PIT4431001:Ncam1 UTSW 9 49798693 missense probably benign 0.04
R0164:Ncam1 UTSW 9 49568409 missense probably damaging 1.00
R0164:Ncam1 UTSW 9 49568409 missense probably damaging 1.00
R0502:Ncam1 UTSW 9 49569818 unclassified probably benign
R0924:Ncam1 UTSW 9 49562176 intron probably benign
R1398:Ncam1 UTSW 9 49517589 intron probably benign
R1440:Ncam1 UTSW 9 49544800 missense probably damaging 1.00
R1491:Ncam1 UTSW 9 49505549 missense probably benign 0.15
R1676:Ncam1 UTSW 9 49557172 missense probably damaging 1.00
R1743:Ncam1 UTSW 9 49557145 missense probably damaging 1.00
R1769:Ncam1 UTSW 9 49545256 unclassified probably benign
R1951:Ncam1 UTSW 9 49545192 missense probably benign 0.36
R2143:Ncam1 UTSW 9 49543019 missense possibly damaging 0.87
R2167:Ncam1 UTSW 9 49568481 missense probably benign 0.42
R2170:Ncam1 UTSW 9 49798681 missense probably benign 0.06
R2290:Ncam1 UTSW 9 49523651 splice site probably benign
R2321:Ncam1 UTSW 9 49544832 unclassified probably benign
R3001:Ncam1 UTSW 9 49557226 missense probably damaging 0.99
R3002:Ncam1 UTSW 9 49557226 missense probably damaging 0.99
R4026:Ncam1 UTSW 9 49564995 missense probably benign 0.00
R4279:Ncam1 UTSW 9 49506959 intron probably benign
R4289:Ncam1 UTSW 9 49557172 missense probably damaging 1.00
R4873:Ncam1 UTSW 9 49507621 intron probably benign
R4875:Ncam1 UTSW 9 49507621 intron probably benign
R4883:Ncam1 UTSW 9 49541883 splice site probably null
R4899:Ncam1 UTSW 9 49545251 critical splice acceptor site probably null
R4923:Ncam1 UTSW 9 49505479 missense probably benign
R5041:Ncam1 UTSW 9 49566785 missense probably damaging 1.00
R5058:Ncam1 UTSW 9 49798695 missense probably benign 0.16
R5386:Ncam1 UTSW 9 49564874 missense probably damaging 1.00
R5388:Ncam1 UTSW 9 49544754 missense probably benign
R5512:Ncam1 UTSW 9 49509699 splice site probably null
R5598:Ncam1 UTSW 9 49545751 missense probably damaging 1.00
R5895:Ncam1 UTSW 9 49507043 missense probably benign
R5972:Ncam1 UTSW 9 49507529 missense possibly damaging 0.93
R6059:Ncam1 UTSW 9 49544666 missense probably damaging 1.00
R6226:Ncam1 UTSW 9 49565004 missense probably benign 0.00
R6392:Ncam1 UTSW 9 49523575 missense probably damaging 0.99
R6750:Ncam1 UTSW 9 49567339 missense probably damaging 1.00
R6799:Ncam1 UTSW 9 49508611 missense probably damaging 0.99
R7230:Ncam1 UTSW 9 49509823 missense probably benign 0.00
R7335:Ncam1 UTSW 9 49506911 missense
R7561:Ncam1 UTSW 9 49564942 missense probably damaging 1.00
X0062:Ncam1 UTSW 9 49545601 nonsense probably null
X0064:Ncam1 UTSW 9 49566680 missense probably damaging 1.00
Posted On2015-04-16