Incidental Mutation 'R7561:Ncam1'
ID 585136
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 045654-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R7561 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 49413436-49710225 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 49476242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 282 (D282E)
Ref Sequence ENSEMBL: ENSMUSP00000142275 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114476] [ENSMUST00000166811] [ENSMUST00000192584] [ENSMUST00000193547]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000114476
AA Change: D282E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110120
Gene: ENSMUSG00000039542
AA Change: D282E

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
SMART Domains Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542
AA Change: D282E

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: D282E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141700
Gene: ENSMUSG00000039542
AA Change: D282E

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 damaging
Transcript: ENSMUST00000193547
AA Change: D282E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542
AA Change: D282E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,341,314 (GRCm39) N314K probably benign Het
A430005L14Rik T A 4: 154,045,097 (GRCm39) I80N probably benign Het
Abca2 A G 2: 25,336,707 (GRCm39) H2271R probably damaging Het
Acad8 T C 9: 26,890,538 (GRCm39) I257V probably benign Het
Acot12 A T 13: 91,918,243 (GRCm39) T179S probably damaging Het
Adcy10 A G 1: 165,386,741 (GRCm39) R1155G possibly damaging Het
Adcy9 C T 16: 4,236,028 (GRCm39) C461Y probably damaging Het
Adgrf1 G A 17: 43,622,000 (GRCm39) V746I possibly damaging Het
Agbl1 C A 7: 76,348,509 (GRCm39) Q869K unknown Het
AI837181 T G 19: 5,476,491 (GRCm39) V218G probably damaging Het
Alg9 T C 9: 50,754,074 (GRCm39) S585P possibly damaging Het
Arhgef38 T C 3: 132,866,489 (GRCm39) Q216R Het
Asb4 A T 6: 5,430,968 (GRCm39) H401L possibly damaging Het
Atg7 G T 6: 114,650,002 (GRCm39) A60S possibly damaging Het
Atp10a T A 7: 58,476,881 (GRCm39) C1199S probably damaging Het
Blm G A 7: 80,152,276 (GRCm39) A557V probably damaging Het
Cbln1 A T 8: 88,198,624 (GRCm39) M82K probably benign Het
Ccdc183 T G 2: 25,501,529 (GRCm39) I293L probably benign Het
Col6a3 A G 1: 90,703,463 (GRCm39) S3035P unknown Het
Cux2 A T 5: 122,017,931 (GRCm39) S206T probably benign Het
Cyfip2 T C 11: 46,161,425 (GRCm39) D355G probably benign Het
Dhrs2 A G 14: 55,474,698 (GRCm39) H111R probably benign Het
Eif3b T G 5: 140,428,109 (GRCm39) D781E probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fermt1 A T 2: 132,758,008 (GRCm39) I469N probably benign Het
Fgf20 G T 8: 40,732,975 (GRCm39) N154K possibly damaging Het
Fndc10 T A 4: 155,779,328 (GRCm39) V124E probably damaging Het
Fra10ac1 T C 19: 38,210,324 (GRCm39) D13G probably damaging Het
Gpatch1 A G 7: 35,008,800 (GRCm39) S74P probably damaging Het
Gramd1b G A 9: 40,312,911 (GRCm39) T19I unknown Het
Grm8 T C 6: 27,429,524 (GRCm39) T457A probably benign Het
Gucy2g C A 19: 55,194,772 (GRCm39) V882L probably benign Het
Hectd4 G A 5: 121,429,288 (GRCm39) R811H possibly damaging Het
Hk1 C T 10: 62,116,807 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il10ra T A 9: 45,167,117 (GRCm39) D480V probably benign Het
Il18rap A T 1: 40,563,537 (GRCm39) H22L probably benign Het
Inpp5a T A 7: 139,147,338 (GRCm39) I321N probably damaging Het
Insyn1 A G 9: 58,406,687 (GRCm39) D199G probably damaging Het
Kat2b T G 17: 53,948,286 (GRCm39) L352R probably benign Het
Katnip C T 7: 125,441,894 (GRCm39) S627L probably benign Het
Kcna1 A T 6: 126,619,108 (GRCm39) V404E probably damaging Het
Mcm3ap T A 10: 76,328,712 (GRCm39) V1110E possibly damaging Het
Moxd2 C T 6: 40,864,337 (GRCm39) R31H probably damaging Het
Mpdz A T 4: 81,225,388 (GRCm39) N1368K probably damaging Het
Mpzl3 G T 9: 44,966,610 (GRCm39) V24F probably benign Het
Mybph G A 1: 134,121,465 (GRCm39) probably null Het
Ntrk2 G A 13: 59,009,202 (GRCm39) C331Y probably benign Het
Nwd2 T A 5: 63,964,434 (GRCm39) C1339* probably null Het
Or3a1d T C 11: 74,238,436 (GRCm39) probably benign Het
Or5b98 T C 19: 12,931,403 (GRCm39) V150A probably benign Het
Or8k33 T C 2: 86,383,661 (GRCm39) D269G probably benign Het
Osbpl6 C A 2: 76,416,498 (GRCm39) T672N probably damaging Het
Pds5b T C 5: 150,662,783 (GRCm39) probably null Het
Perm1 A G 4: 156,303,217 (GRCm39) N587S probably benign Het
Pex7 A T 10: 19,770,012 (GRCm39) C165* probably null Het
Pik3r4 A G 9: 105,564,446 (GRCm39) T1347A possibly damaging Het
Pitpnm3 T C 11: 71,942,008 (GRCm39) D933G probably benign Het
Rnf213 T A 11: 119,332,545 (GRCm39) F2586I Het
Scn10a A G 9: 119,523,390 (GRCm39) M1T probably null Het
Sdhaf3 T A 6: 6,956,079 (GRCm39) L18Q not run Het
Septin7 A G 9: 25,209,151 (GRCm39) E256G possibly damaging Het
Slc35b2 A G 17: 45,877,727 (GRCm39) T236A probably damaging Het
Slc4a4 G A 5: 89,347,556 (GRCm39) G766R probably damaging Het
Slco6c1 G T 1: 97,000,691 (GRCm39) S537Y probably damaging Het
Srp68 T C 11: 116,139,593 (GRCm39) E452G probably damaging Het
Taf2 A T 15: 54,919,229 (GRCm39) M382K probably benign Het
Tas2r131 A G 6: 132,933,921 (GRCm39) L296P probably benign Het
Tlr9 A G 9: 106,103,148 (GRCm39) E813G probably benign Het
Trmt44 T C 5: 35,715,336 (GRCm39) E659G possibly damaging Het
Ttc21b G A 2: 66,047,548 (GRCm39) A849V possibly damaging Het
Unc45a G T 7: 79,981,334 (GRCm39) S489R possibly damaging Het
Xrn1 T C 9: 95,881,511 (GRCm39) V795A probably benign Het
Zbtb22 A T 17: 34,136,952 (GRCm39) T366S probably benign Het
Zcchc10 T A 11: 53,215,545 (GRCm39) H6Q probably benign Het
Zfp60 A G 7: 27,447,955 (GRCm39) K208E probably damaging Het
Zfp780b A T 7: 27,664,037 (GRCm39) C173S possibly damaging Het
Zfp786 C A 6: 47,796,667 (GRCm39) R757L probably benign Het
Zfp936 G A 7: 42,839,339 (GRCm39) A269T probably damaging Het
Zfp976 T C 7: 42,265,701 (GRCm39) Y29C probably 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
R6750:Ncam1 UTSW 9 49,478,639 (GRCm39) missense probably damaging 1.00
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
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'- TTAGGTGTCAGAGCAGGCAG -3'
(R):5'- CTTCGCACAGTGGGAAATGATC -3'

Sequencing Primer
(F):5'- TCATGGATGCATGCCATGAC -3'
(R):5'- GGAAATGATCAGAAATGAACCTCTTC -3'
Posted On 2019-10-17