Incidental Mutation 'R2290:Ncam1'
ID 244279
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 040289-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R2290 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 49413436-49710225 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 49434951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000114476] [ENSMUST00000166811] [ENSMUST00000193547]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068730
Predicted Effect probably benign
Transcript: ENSMUST00000114476
SMART Domains Protein: ENSMUSP00000110120
Gene: ENSMUSG00000039542

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 probably benign
Transcript: ENSMUST00000166811
SMART Domains Protein: ENSMUSP00000130668
Gene: ENSMUSG00000039542

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
SMART Domains Protein: ENSMUSP00000142275
Gene: ENSMUSG00000039542

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 probably benign
Transcript: ENSMUST00000194252
Predicted Effect probably benign
Transcript: ENSMUST00000194844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215070
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215465
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216483
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (73/73)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 T C 10: 83,363,177 (GRCm39) D62G probably damaging Het
Ambp T C 4: 63,061,924 (GRCm39) Y335C probably damaging Het
Arid4a G T 12: 71,108,315 (GRCm39) G40V probably damaging Het
Asb13 G A 13: 3,699,418 (GRCm39) G206D probably damaging Het
Ccdc7b A G 8: 129,857,587 (GRCm39) probably benign Het
Cdh15 A T 8: 123,586,056 (GRCm39) N145I probably damaging Het
Celsr3 T C 9: 108,720,423 (GRCm39) I2565T probably damaging Het
Cfap43 A T 19: 47,761,574 (GRCm39) M840K probably damaging Het
Clip4 T C 17: 72,117,948 (GRCm39) V331A possibly damaging Het
Cnnm1 A G 19: 43,479,941 (GRCm39) T829A probably benign Het
Col24a1 G A 3: 145,218,950 (GRCm39) G1457E probably damaging Het
D6Ertd527e A G 6: 87,088,527 (GRCm39) N230S unknown Het
Dll1 T C 17: 15,595,010 (GRCm39) D89G probably benign Het
Dst T A 1: 34,268,281 (GRCm39) V2901E probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Efl1 A T 7: 82,426,878 (GRCm39) K1125N probably damaging Het
Efr3a T A 15: 65,721,688 (GRCm39) F437L probably benign Het
Eqtn GTTCTTCTTC GTTCTTC 4: 94,815,179 (GRCm39) probably benign Het
Ermp1 T C 19: 29,601,178 (GRCm39) D523G probably damaging Het
Gm38999 A G 7: 43,077,123 (GRCm39) E5G probably benign Het
Gm5828 C T 1: 16,838,568 (GRCm39) noncoding transcript Het
Gnas T C 2: 174,141,803 (GRCm39) F717L probably benign Het
H6pd T A 4: 150,066,338 (GRCm39) S683C probably damaging Het
Il23r G A 6: 67,400,845 (GRCm39) T495I probably benign Het
Itpr2 T C 6: 146,324,326 (GRCm39) N135D probably damaging Het
Kcns2 T A 15: 34,838,655 (GRCm39) L6Q possibly damaging Het
Khdrbs3 C T 15: 68,901,610 (GRCm39) R132C probably damaging Het
Kif2b A G 11: 91,466,522 (GRCm39) V587A probably benign Het
Kng1 A T 16: 22,897,875 (GRCm39) H425L possibly damaging Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lrrc8e T C 8: 4,281,770 (GRCm39) M35T probably damaging Het
Med12l A G 3: 59,152,359 (GRCm39) N1048S probably damaging Het
Mex3c A C 18: 73,723,764 (GRCm39) N619T probably damaging Het
Mfsd4b1 G A 10: 39,879,327 (GRCm39) T190I probably damaging Het
Nlrp6 G A 7: 140,502,076 (GRCm39) G133S probably damaging Het
Oplah A G 15: 76,186,925 (GRCm39) V630A probably benign Het
Or1e26 G T 11: 73,479,745 (GRCm39) A273D probably benign Het
Or2y1 A G 11: 49,385,857 (GRCm39) M166V probably benign Het
Or5ak24 C T 2: 85,260,544 (GRCm39) V210M possibly damaging Het
Or8g36 A G 9: 39,422,974 (GRCm39) L14P possibly damaging Het
Pcnx2 A T 8: 126,604,334 (GRCm39) probably benign Het
Pkhd1l1 A T 15: 44,391,646 (GRCm39) T1571S probably benign Het
Pramel13 T A 4: 144,121,269 (GRCm39) T252S probably benign Het
Pramel13 G T 4: 144,121,692 (GRCm39) H111N probably benign Het
Prr22 T G 17: 57,078,884 (GRCm39) F346V probably benign Het
Prr30 T C 14: 101,436,211 (GRCm39) N117S possibly damaging Het
Ptgfrn A G 3: 100,984,677 (GRCm39) S172P possibly damaging Het
Ptprc C T 1: 138,038,926 (GRCm39) V364I probably benign Het
Ptprz1 T C 6: 23,000,990 (GRCm39) S1027P probably damaging Het
Rinl T C 7: 28,491,696 (GRCm39) V83A probably benign Het
Ros1 A T 10: 51,994,477 (GRCm39) S1268T probably damaging Het
Scly T C 1: 91,226,172 (GRCm39) probably null Het
Slc25a1 C T 16: 17,743,712 (GRCm39) V186M possibly damaging Het
Stk36 T G 1: 74,665,303 (GRCm39) probably benign Het
Syn2 A G 6: 115,251,190 (GRCm39) T449A possibly damaging Het
Tecpr1 T C 5: 144,150,881 (GRCm39) D309G probably damaging Het
Tent4b T C 8: 88,978,603 (GRCm39) S435P probably damaging Het
Tns2 T A 15: 102,020,458 (GRCm39) Y775N probably damaging Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Ttl G A 2: 128,923,190 (GRCm39) G177D possibly damaging Het
Twf1 A G 15: 94,484,400 (GRCm39) S41P probably damaging Het
Unc79 C T 12: 103,112,625 (GRCm39) T2174M probably damaging Het
Vangl2 T A 1: 171,836,113 (GRCm39) K340* probably null Het
Vmn2r72 T A 7: 85,387,549 (GRCm39) T672S probably damaging Het
Vwa7 A G 17: 35,236,187 (GRCm39) D47G probably damaging Het
Zc3h12d A G 10: 7,743,223 (GRCm39) H331R probably benign Het
Zfa-ps T C 10: 52,421,112 (GRCm39) noncoding transcript Het
Zfp141 A T 7: 42,124,649 (GRCm39) C608S probably damaging Het
Zfp422 A G 6: 116,603,603 (GRCm39) I132T possibly damaging Het
Zfp652 A G 11: 95,640,849 (GRCm39) Y258C 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
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
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'- TCAGGGTCCCAGGTTCTGTG -3'
(R):5'- CCAGCTAAGGCCGAGTGAG -3'

Sequencing Primer
(F):5'- CCCAGGTTCTGTGTGTGTG -3'
(R):5'- CCGAGTGAGGCAGCCAAG -3'
Posted On 2014-10-30