Incidental Mutation 'R6750:Ncam1'
ID 530708
Institutional Source Beutler Lab
Gene Symbol Ncam1
Ensembl Gene ENSMUSG00000039542
Gene Name neural cell adhesion molecule 1
Synonyms NCAM, NCAM-1, NCAM-120, E-NCAM, CD56, NCAM-140, NCAM-180
MMRRC Submission 044867-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R6750 (G1)
Quality Score 219.009
Status Validated
Chromosome 9
Chromosomal Location 49413436-49710225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49478639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 163 (D163G)
Ref Sequence ENSEMBL: ENSMUSP00000141700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114476] [ENSMUST00000166811] [ENSMUST00000192584] [ENSMUST00000193547]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068730
Predicted Effect probably damaging
Transcript: ENSMUST00000114476
AA Change: D163G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110120
Gene: ENSMUSG00000039542
AA Change: D163G

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
low complexity region 711 725 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000166811
AA Change: D163G
SMART Domains Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542
AA Change: D163G

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 damaging
Transcript: ENSMUST00000192584
AA Change: D163G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141700
Gene: ENSMUSG00000039542
AA Change: D163G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 32 103 1.2e-6 SMART
IGc2 130 196 2.6e-8 SMART
IGc2 226 295 2.6e-22 SMART
IGc2 321 393 1.6e-16 SMART
IGc2 418 487 4e-13 SMART
FN3 501 586 2.4e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193547
AA Change: D163G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542
AA Change: D163G

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: D120G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216483
Meta Mutation Damage Score 0.7109 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.7%
Validation Efficiency 100% (75/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A T 2: 120,973,130 (GRCm39) L62F probably damaging Het
Akap13 C T 7: 75,389,206 (GRCm39) P2375S probably benign Het
Apob T A 12: 8,047,853 (GRCm39) L931Q probably damaging Het
Arcn1 A G 9: 44,661,691 (GRCm39) V391A possibly damaging Het
Ccdc162 A T 10: 41,437,222 (GRCm39) I1729N possibly damaging Het
Cd24a T C 10: 43,458,721 (GRCm39) L86P unknown Het
Cdcp3 T A 7: 130,889,974 (GRCm39) probably benign Het
Churc1 C A 12: 76,822,405 (GRCm39) H71Q probably damaging Het
Clcn3 A G 8: 61,367,809 (GRCm39) L780P possibly damaging Het
Cldn17 C T 16: 88,303,195 (GRCm39) G178E possibly damaging Het
Cmah A G 13: 24,648,235 (GRCm39) Y345C probably damaging Het
Cntnap5b C T 1: 100,202,224 (GRCm39) S357L probably damaging Het
Col6a6 A G 9: 105,660,879 (GRCm39) I410T probably damaging Het
Crmp1 T C 5: 37,422,666 (GRCm39) probably null Het
Csmd2 A C 4: 128,091,018 (GRCm39) N186H possibly damaging Het
Cyp1a1 A T 9: 57,607,539 (GRCm39) M56L probably benign Het
D2hgdh G C 1: 93,754,129 (GRCm39) R56P probably benign Het
Dapk2 A G 9: 66,128,034 (GRCm39) E104G probably damaging Het
Dld T C 12: 31,382,213 (GRCm39) N498S probably benign Het
Dyrk4 G T 6: 126,875,918 (GRCm39) Q106K probably benign Het
Eif2b4 T C 5: 31,347,304 (GRCm39) I333V probably damaging Het
F5 A G 1: 164,021,076 (GRCm39) T1184A possibly damaging Het
Fbxl6 C T 15: 76,422,612 (GRCm39) G102D probably damaging Het
Foxa1 C T 12: 57,589,396 (GRCm39) G275R probably benign Het
Fryl A G 5: 73,179,575 (GRCm39) I2944T probably damaging Het
Gna15 T C 10: 81,350,117 (GRCm39) D95G probably benign Het
Greb1 T A 12: 16,738,584 (GRCm39) M1460L probably benign Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Herc2 T C 7: 55,747,195 (GRCm39) I444T probably damaging Het
Ifngr1 T A 10: 19,485,099 (GRCm39) M366K probably benign Het
Krt27 C T 11: 99,239,806 (GRCm39) E253K probably damaging Het
Mical2 C T 7: 111,981,046 (GRCm39) T406I probably damaging Het
Mocs2 T G 13: 114,962,784 (GRCm39) D156E probably damaging Het
Mprip A T 11: 59,586,957 (GRCm39) K43N probably damaging Het
Myo5b A T 18: 74,750,106 (GRCm39) T190S possibly damaging Het
Naa25 C T 5: 121,546,372 (GRCm39) T86M probably damaging Het
Nlrp4f A T 13: 65,329,468 (GRCm39) Y908* probably null Het
Nlrp9b T A 7: 19,757,159 (GRCm39) L132* probably null Het
Nrg1 A C 8: 32,308,124 (GRCm39) S679A probably damaging Het
Or1j1 C A 2: 36,702,954 (GRCm39) R50M possibly damaging Het
Or52p1 C T 7: 104,267,320 (GRCm39) R145C probably damaging Het
Paqr9 A T 9: 95,443,050 (GRCm39) T347S probably damaging Het
Pcdhb21 T C 18: 37,647,501 (GRCm39) L210P probably damaging Het
Pdzd7 T G 19: 45,016,187 (GRCm39) D978A probably benign Het
Phf8-ps A T 17: 33,285,372 (GRCm39) S477T possibly damaging Het
Pkd1l1 A T 11: 8,923,217 (GRCm39) S17T unknown Het
Plcz1 T C 6: 139,974,164 (GRCm39) K93E possibly damaging Het
Pom121l2 G C 13: 22,166,107 (GRCm39) R126P probably damaging Het
Prkg1 C T 19: 31,741,961 (GRCm39) E88K probably benign Het
Psme4 A T 11: 30,803,203 (GRCm39) D15V probably damaging Het
Ptprf A G 4: 118,088,928 (GRCm39) V625A probably benign Het
Rab27a G A 9: 72,992,290 (GRCm39) S106N probably damaging Het
Rasa4 A G 5: 136,129,802 (GRCm39) T261A probably benign Het
Sardh T C 2: 27,118,269 (GRCm39) D487G probably benign Het
Sec16a A G 2: 26,330,030 (GRCm39) Y662H probably benign Het
Sema3d T A 5: 12,635,067 (GRCm39) L711* probably null Het
Septin14 T A 5: 129,773,181 (GRCm39) Y152F probably damaging Het
Smc5 A G 19: 23,220,004 (GRCm39) L411P probably damaging Het
Spata31e5 C A 1: 28,816,495 (GRCm39) E512D probably damaging Het
Spg7 T A 8: 123,800,650 (GRCm39) V39E probably damaging Het
Tas2r117 A G 6: 132,779,817 (GRCm39) probably benign Het
Tle1 A T 4: 72,040,687 (GRCm39) I631N probably damaging Het
Tmed3 T A 9: 89,581,843 (GRCm39) S207C probably damaging Het
Tmem59l G A 8: 70,939,022 (GRCm39) P51S probably benign Het
Trpc3 A G 3: 36,678,542 (GRCm39) Y848H probably damaging Het
Tsen2 T C 6: 115,526,881 (GRCm39) F66S probably damaging Het
Ttll5 T A 12: 86,003,384 (GRCm39) S216R probably damaging Het
Usp22 A T 11: 61,048,042 (GRCm39) V426E probably damaging Het
Vmn2r76 T C 7: 85,875,114 (GRCm39) N621S probably damaging Het
Wdr75 A G 1: 45,856,539 (GRCm39) T521A probably damaging Het
Wrnip1 T A 13: 32,986,739 (GRCm39) D173E probably damaging Het
Zfp317 G A 9: 19,559,100 (GRCm39) G438D probably damaging Het
Zscan10 T A 17: 23,826,164 (GRCm39) S109T possibly damaging Het
Other mutations in Ncam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Ncam1 APN 9 49,434,865 (GRCm39) missense probably damaging 1.00
IGL01384:Ncam1 APN 9 49,421,152 (GRCm39) missense possibly damaging 0.76
IGL01798:Ncam1 APN 9 49,419,907 (GRCm39) missense probably damaging 1.00
IGL02239:Ncam1 APN 9 49,478,702 (GRCm39) missense probably damaging 1.00
IGL02368:Ncam1 APN 9 49,454,383 (GRCm39) nonsense probably null
IGL02616:Ncam1 APN 9 49,419,988 (GRCm39) missense probably benign 0.23
PIT4431001:Ncam1 UTSW 9 49,709,993 (GRCm39) missense probably benign 0.04
R0164:Ncam1 UTSW 9 49,479,709 (GRCm39) missense probably damaging 1.00
R0164:Ncam1 UTSW 9 49,479,709 (GRCm39) missense probably damaging 1.00
R0502:Ncam1 UTSW 9 49,481,118 (GRCm39) unclassified probably benign
R0924:Ncam1 UTSW 9 49,473,476 (GRCm39) intron probably benign
R1398:Ncam1 UTSW 9 49,428,889 (GRCm39) intron probably benign
R1440:Ncam1 UTSW 9 49,456,100 (GRCm39) missense probably damaging 1.00
R1491:Ncam1 UTSW 9 49,416,849 (GRCm39) missense probably benign 0.15
R1676:Ncam1 UTSW 9 49,468,472 (GRCm39) missense probably damaging 1.00
R1743:Ncam1 UTSW 9 49,468,445 (GRCm39) missense probably damaging 1.00
R1769:Ncam1 UTSW 9 49,456,556 (GRCm39) unclassified probably benign
R1951:Ncam1 UTSW 9 49,456,492 (GRCm39) missense probably benign 0.36
R2143:Ncam1 UTSW 9 49,454,319 (GRCm39) missense possibly damaging 0.87
R2167:Ncam1 UTSW 9 49,479,781 (GRCm39) missense probably benign 0.42
R2170:Ncam1 UTSW 9 49,709,981 (GRCm39) missense probably benign 0.06
R2290:Ncam1 UTSW 9 49,434,951 (GRCm39) splice site probably benign
R2321:Ncam1 UTSW 9 49,456,132 (GRCm39) unclassified probably benign
R3001:Ncam1 UTSW 9 49,468,526 (GRCm39) missense probably damaging 0.99
R3002:Ncam1 UTSW 9 49,468,526 (GRCm39) missense probably damaging 0.99
R4026:Ncam1 UTSW 9 49,476,295 (GRCm39) missense probably benign 0.00
R4279:Ncam1 UTSW 9 49,418,259 (GRCm39) intron probably benign
R4289:Ncam1 UTSW 9 49,468,472 (GRCm39) missense probably damaging 1.00
R4873:Ncam1 UTSW 9 49,418,921 (GRCm39) intron probably benign
R4875:Ncam1 UTSW 9 49,418,921 (GRCm39) intron probably benign
R4883:Ncam1 UTSW 9 49,453,183 (GRCm39) splice site probably null
R4899:Ncam1 UTSW 9 49,456,551 (GRCm39) critical splice acceptor site probably null
R4923:Ncam1 UTSW 9 49,416,779 (GRCm39) missense probably benign
R5041:Ncam1 UTSW 9 49,478,085 (GRCm39) missense probably damaging 1.00
R5058:Ncam1 UTSW 9 49,709,995 (GRCm39) missense probably benign 0.16
R5386:Ncam1 UTSW 9 49,476,174 (GRCm39) missense probably damaging 1.00
R5388:Ncam1 UTSW 9 49,456,054 (GRCm39) missense probably benign
R5512:Ncam1 UTSW 9 49,420,999 (GRCm39) splice site probably null
R5598:Ncam1 UTSW 9 49,457,051 (GRCm39) missense probably damaging 1.00
R5895:Ncam1 UTSW 9 49,418,343 (GRCm39) missense probably benign
R5972:Ncam1 UTSW 9 49,418,829 (GRCm39) missense possibly damaging 0.93
R6059:Ncam1 UTSW 9 49,455,966 (GRCm39) missense probably damaging 1.00
R6226:Ncam1 UTSW 9 49,476,304 (GRCm39) missense probably benign 0.00
R6392:Ncam1 UTSW 9 49,434,875 (GRCm39) missense probably damaging 0.99
R6799:Ncam1 UTSW 9 49,419,911 (GRCm39) missense probably damaging 0.99
R7230:Ncam1 UTSW 9 49,421,123 (GRCm39) missense probably benign 0.00
R7335:Ncam1 UTSW 9 49,418,211 (GRCm39) missense
R7561:Ncam1 UTSW 9 49,476,242 (GRCm39) missense probably damaging 1.00
R7645:Ncam1 UTSW 9 49,476,303 (GRCm39) missense probably benign 0.01
R8022:Ncam1 UTSW 9 49,476,192 (GRCm39) missense possibly damaging 0.72
R8023:Ncam1 UTSW 9 49,421,057 (GRCm39) missense probably benign 0.00
R8045:Ncam1 UTSW 9 49,418,736 (GRCm39) missense
R8234:Ncam1 UTSW 9 49,456,523 (GRCm39) missense probably damaging 0.99
R8308:Ncam1 UTSW 9 49,479,817 (GRCm39) missense probably damaging 0.99
R8370:Ncam1 UTSW 9 49,468,431 (GRCm39) nonsense probably null
R8500:Ncam1 UTSW 9 49,431,445 (GRCm39) missense probably damaging 1.00
R8542:Ncam1 UTSW 9 49,419,898 (GRCm39) missense probably damaging 1.00
R8944:Ncam1 UTSW 9 49,431,493 (GRCm39) missense probably damaging 1.00
R8977:Ncam1 UTSW 9 49,418,825 (GRCm39) missense probably damaging 1.00
R9028:Ncam1 UTSW 9 49,418,736 (GRCm39) missense
R9034:Ncam1 UTSW 9 49,481,198 (GRCm39) missense probably benign 0.42
R9106:Ncam1 UTSW 9 49,428,856 (GRCm39) missense probably damaging 0.99
R9224:Ncam1 UTSW 9 49,419,995 (GRCm39) missense probably damaging 1.00
R9330:Ncam1 UTSW 9 49,456,097 (GRCm39) missense probably benign
X0062:Ncam1 UTSW 9 49,456,901 (GRCm39) nonsense probably null
X0064:Ncam1 UTSW 9 49,477,980 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCAGTCTAGGGATGGCATG -3'
(R):5'- GCATCAGAGTTCTACTGAGAGGG -3'

Sequencing Primer
(F):5'- CAGTCTAGGGATGGCATGTCTGTC -3'
(R):5'- AGGGTGTTTGTTCCTCACTC -3'
Posted On 2018-08-01