Incidental Mutation 'R0523:Ncam2'
ID 48749
Institutional Source Beutler Lab
Gene Symbol Ncam2
Ensembl Gene ENSMUSG00000022762
Gene Name neural cell adhesion molecule 2
Synonyms Ncam-2, RNCAM, R4B12 antigen, Ocam
MMRRC Submission 038716-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0523 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 80997585-81423716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81258531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 271 (I271T)
Ref Sequence ENSEMBL: ENSMUSP00000063468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037785] [ENSMUST00000067602]
AlphaFold O35136
Predicted Effect probably damaging
Transcript: ENSMUST00000037785
AA Change: I271T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: I271T

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IGc2 33 100 3.18e-6 SMART
IGc2 127 193 1.13e-11 SMART
IGc2 223 288 2.03e-13 SMART
IGc2 313 387 1.12e-15 SMART
IGc2 413 482 9.93e-8 SMART
FN3 496 578 5.91e-13 SMART
FN3 594 675 2.87e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000067602
AA Change: I271T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: I271T

DomainStartEndE-ValueType
low complexity region 3 13 N/A INTRINSIC
IGc2 33 100 3.18e-6 SMART
IGc2 127 193 1.13e-11 SMART
IGc2 223 288 2.03e-13 SMART
IGc2 313 387 1.12e-15 SMART
IGc2 413 482 9.93e-8 SMART
FN3 496 578 5.91e-13 SMART
FN3 594 675 2.87e-2 SMART
transmembrane domain 696 718 N/A INTRINSIC
low complexity region 741 757 N/A INTRINSIC
low complexity region 789 812 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232550
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [provided by RefSeq, Jul 2008]
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a knock-out allele exhibit exhibit increased proliferation rate and clonogenic frequency in spinal cord-derived neurospheres. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,289 (GRCm39) D807G possibly damaging Het
Actl9 T A 17: 33,652,323 (GRCm39) W128R probably damaging Het
Aggf1 T C 13: 95,492,924 (GRCm39) I562V probably damaging Het
Ano3 T A 2: 110,715,200 (GRCm39) E79D probably benign Het
Apobec1 T A 6: 122,558,504 (GRCm39) I84F probably damaging Het
Atp6v1b2 T C 8: 69,562,637 (GRCm39) F458L possibly damaging Het
Bco2 A T 9: 50,445,926 (GRCm39) V490E probably damaging Het
Catsperg1 G A 7: 28,884,615 (GRCm39) probably benign Het
Cdc37 T C 9: 21,054,292 (GRCm39) K111R probably damaging Het
Cfap54 T C 10: 92,744,745 (GRCm39) probably benign Het
Cfap91 G A 16: 38,148,736 (GRCm39) P231S probably damaging Het
Cplane1 T A 15: 8,223,870 (GRCm39) Y878N probably damaging Het
Cpox T A 16: 58,495,608 (GRCm39) C308* probably null Het
Cracdl A T 1: 37,683,710 (GRCm39) M1K probably null Het
Ctnna3 T G 10: 64,511,688 (GRCm39) M626R probably damaging Het
Cyp2c68 T C 19: 39,727,873 (GRCm39) E93G probably benign Het
Cyp2s1 G A 7: 25,505,475 (GRCm39) R330W probably damaging Het
Diaph1 C T 18: 37,989,553 (GRCm39) V860I possibly damaging Het
Dicer1 A G 12: 104,668,750 (GRCm39) S1311P probably damaging Het
Dpyd G A 3: 118,692,852 (GRCm39) R332K probably benign Het
E130308A19Rik G A 4: 59,719,716 (GRCm39) R416H probably damaging Het
Eef1d T C 15: 75,775,005 (GRCm39) D218G probably benign Het
Eif2ak1 T C 5: 143,818,984 (GRCm39) V215A probably damaging Het
Eif2ak4 T C 2: 118,272,577 (GRCm39) probably null Het
Fcrl5 T C 3: 87,365,099 (GRCm39) S583P possibly damaging Het
Garin5b A G 7: 4,762,392 (GRCm39) S246P possibly damaging Het
Grid2ip C A 5: 143,358,798 (GRCm39) Q29K possibly damaging Het
Htr1f A T 16: 64,746,262 (GRCm39) N343K probably damaging Het
Hvcn1 T C 5: 122,354,428 (GRCm39) probably null Het
Igf2r T C 17: 12,910,951 (GRCm39) I1956V probably benign Het
Impdh2 A T 9: 108,439,018 (GRCm39) probably null Het
Impdh2 C T 9: 108,439,019 (GRCm39) T96I possibly damaging Het
Lactb C G 9: 66,877,974 (GRCm39) G285A probably benign Het
Lrrc43 T C 5: 123,639,305 (GRCm39) S445P probably damaging Het
Mapk12 T G 15: 89,019,848 (GRCm39) M120L probably benign Het
Mroh8 C G 2: 157,065,956 (GRCm39) A669P probably damaging Het
Mrpl38 A C 11: 116,022,844 (GRCm39) H373Q probably benign Het
Myocd A G 11: 65,071,728 (GRCm39) V740A probably damaging Het
Naprt A G 15: 75,764,314 (GRCm39) F300S probably damaging Het
Nek4 A G 14: 30,701,995 (GRCm39) T582A probably benign Het
Notch2 C T 3: 97,978,286 (GRCm39) T89I probably benign Het
Notch2 G A 3: 98,018,914 (GRCm39) R692H probably benign Het
Nt5c3 A T 6: 56,860,666 (GRCm39) N296K probably damaging Het
Nt5c3b T A 11: 100,327,036 (GRCm39) I87F probably damaging Het
Oas3 T C 5: 120,904,209 (GRCm39) Q555R unknown Het
Or2ag17 A G 7: 106,389,533 (GRCm39) V225A probably damaging Het
Or5p69 A T 7: 107,967,438 (GRCm39) H247L probably damaging Het
Or9g19 T A 2: 85,600,273 (GRCm39) S43T probably benign Het
P3h1 C A 4: 119,098,727 (GRCm39) Q410K probably benign Het
Pax3 A G 1: 78,172,078 (GRCm39) V44A possibly damaging Het
Pde1c T A 6: 56,151,926 (GRCm39) L252F probably damaging Het
Pdzd7 T A 19: 45,024,529 (GRCm39) T497S probably benign Het
Piezo2 T C 18: 63,155,552 (GRCm39) T253A probably damaging Het
Pipox T C 11: 77,782,965 (GRCm39) E79G probably damaging Het
Pole G T 5: 110,451,459 (GRCm39) M829I probably damaging Het
Ppp1r12c A T 7: 4,492,771 (GRCm39) L156Q probably damaging Het
Psme2b T G 11: 48,836,609 (GRCm39) T113P probably damaging Het
Ptprq A G 10: 107,416,081 (GRCm39) I1739T possibly damaging Het
Qser1 T C 2: 104,620,021 (GRCm39) T174A probably damaging Het
Rcor3 T G 1: 191,814,736 (GRCm39) D81A probably damaging Het
Rev3l T C 10: 39,724,045 (GRCm39) V785A probably benign Het
Rnf11 T C 4: 109,314,119 (GRCm39) D90G probably benign Het
Sh3tc1 GCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCC 5: 35,881,410 (GRCm39) probably benign Het
Smad2 T A 18: 76,395,623 (GRCm39) S21T probably benign Het
Smc4 A G 3: 68,933,221 (GRCm39) D639G probably damaging Het
Smtn A T 11: 3,474,664 (GRCm39) S716T possibly damaging Het
Smug1 G T 15: 103,064,136 (GRCm39) Q262K probably benign Het
Sspo G T 6: 48,428,794 (GRCm39) G403V probably benign Het
Tas2r131 A G 6: 132,934,414 (GRCm39) F132L possibly damaging Het
Tgm3 T C 2: 129,886,582 (GRCm39) probably null Het
Tigd2 C T 6: 59,187,358 (GRCm39) T75M probably benign Het
Tnfrsf13b T C 11: 61,038,413 (GRCm39) V232A probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trim47 A G 11: 115,998,716 (GRCm39) L301S probably damaging Het
Trim75 G A 8: 65,436,442 (GRCm39) H3Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Tsbp1 G T 17: 34,664,473 (GRCm39) probably null Het
Ttc29 G C 8: 79,003,466 (GRCm39) L227F probably benign Het
Ttc39d G A 17: 80,523,886 (GRCm39) D182N possibly damaging Het
Ttll10 T A 4: 156,129,818 (GRCm39) R164* probably null Het
Ufsp2 T A 8: 46,449,780 (GRCm39) D447E probably benign Het
Ugt2b37 T A 5: 87,399,691 (GRCm39) L272F possibly damaging Het
Vps13b T C 15: 35,472,196 (GRCm39) V833A probably benign Het
Zbbx T C 3: 74,989,165 (GRCm39) T308A probably benign Het
Zfp933 G A 4: 147,910,919 (GRCm39) Q226* probably null Het
Other mutations in Ncam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Ncam2 APN 16 81,314,467 (GRCm39) missense probably damaging 1.00
IGL01369:Ncam2 APN 16 81,258,459 (GRCm39) missense probably benign 0.09
IGL01554:Ncam2 APN 16 81,309,823 (GRCm39) missense possibly damaging 0.88
IGL01892:Ncam2 APN 16 81,386,587 (GRCm39) missense possibly damaging 0.71
IGL02320:Ncam2 APN 16 81,231,725 (GRCm39) missense probably damaging 0.99
IGL02669:Ncam2 APN 16 81,314,429 (GRCm39) missense probably benign 0.18
IGL03073:Ncam2 APN 16 81,418,235 (GRCm39) missense possibly damaging 0.70
IGL03353:Ncam2 APN 16 81,231,788 (GRCm39) missense probably benign 0.04
BB009:Ncam2 UTSW 16 81,412,708 (GRCm39) missense probably damaging 0.99
BB019:Ncam2 UTSW 16 81,412,708 (GRCm39) missense probably damaging 0.99
R0087:Ncam2 UTSW 16 81,231,789 (GRCm39) missense probably benign 0.11
R0097:Ncam2 UTSW 16 81,314,425 (GRCm39) missense probably damaging 1.00
R0276:Ncam2 UTSW 16 81,314,517 (GRCm39) splice site probably benign
R0279:Ncam2 UTSW 16 81,420,225 (GRCm39) splice site probably benign
R0471:Ncam2 UTSW 16 80,997,772 (GRCm39) start gained probably benign
R1353:Ncam2 UTSW 16 80,997,803 (GRCm39) start codon destroyed probably null
R1646:Ncam2 UTSW 16 81,262,594 (GRCm39) critical splice donor site probably benign
R1884:Ncam2 UTSW 16 81,234,571 (GRCm39) missense probably damaging 1.00
R2002:Ncam2 UTSW 16 81,386,586 (GRCm39) missense possibly damaging 0.70
R2157:Ncam2 UTSW 16 81,287,277 (GRCm39) missense probably damaging 1.00
R2330:Ncam2 UTSW 16 81,309,809 (GRCm39) missense probably benign 0.17
R2404:Ncam2 UTSW 16 81,287,128 (GRCm39) splice site probably benign
R2434:Ncam2 UTSW 16 81,392,113 (GRCm39) missense probably benign 0.01
R3104:Ncam2 UTSW 16 81,262,598 (GRCm39) splice site probably benign
R3842:Ncam2 UTSW 16 81,231,698 (GRCm39) missense probably damaging 1.00
R3954:Ncam2 UTSW 16 81,386,612 (GRCm39) missense probably damaging 1.00
R4039:Ncam2 UTSW 16 81,287,211 (GRCm39) missense probably benign 0.02
R4210:Ncam2 UTSW 16 81,323,991 (GRCm39) missense probably benign 0.02
R4514:Ncam2 UTSW 16 81,309,884 (GRCm39) missense probably benign 0.13
R4583:Ncam2 UTSW 16 81,314,445 (GRCm39) missense probably damaging 1.00
R4586:Ncam2 UTSW 16 81,262,457 (GRCm39) missense probably benign 0.06
R4710:Ncam2 UTSW 16 81,262,594 (GRCm39) critical splice donor site probably null
R4732:Ncam2 UTSW 16 81,231,772 (GRCm39) missense possibly damaging 0.63
R4733:Ncam2 UTSW 16 81,231,772 (GRCm39) missense possibly damaging 0.63
R4876:Ncam2 UTSW 16 81,287,234 (GRCm39) missense probably benign 0.27
R4923:Ncam2 UTSW 16 81,386,679 (GRCm39) missense possibly damaging 0.48
R5131:Ncam2 UTSW 16 81,234,550 (GRCm39) missense probably benign 0.44
R5329:Ncam2 UTSW 16 81,231,707 (GRCm39) missense probably damaging 1.00
R5478:Ncam2 UTSW 16 81,231,766 (GRCm39) nonsense probably null
R5479:Ncam2 UTSW 16 81,231,766 (GRCm39) nonsense probably null
R5481:Ncam2 UTSW 16 81,231,766 (GRCm39) nonsense probably null
R5519:Ncam2 UTSW 16 81,231,766 (GRCm39) nonsense probably null
R5522:Ncam2 UTSW 16 81,231,766 (GRCm39) nonsense probably null
R5523:Ncam2 UTSW 16 81,231,766 (GRCm39) nonsense probably null
R5524:Ncam2 UTSW 16 81,231,766 (GRCm39) nonsense probably null
R5526:Ncam2 UTSW 16 81,231,766 (GRCm39) nonsense probably null
R5718:Ncam2 UTSW 16 81,386,702 (GRCm39) splice site probably null
R5793:Ncam2 UTSW 16 81,372,991 (GRCm39) missense possibly damaging 0.95
R6050:Ncam2 UTSW 16 81,240,054 (GRCm39) nonsense probably null
R6212:Ncam2 UTSW 16 81,229,650 (GRCm39) missense probably damaging 1.00
R6847:Ncam2 UTSW 16 81,229,606 (GRCm39) missense probably damaging 1.00
R6935:Ncam2 UTSW 16 81,323,879 (GRCm39) missense probably benign 0.24
R7159:Ncam2 UTSW 16 81,287,262 (GRCm39) missense probably damaging 1.00
R7193:Ncam2 UTSW 16 81,386,683 (GRCm39) missense probably damaging 1.00
R7232:Ncam2 UTSW 16 81,309,759 (GRCm39) missense probably damaging 1.00
R7346:Ncam2 UTSW 16 81,420,256 (GRCm39) missense probably damaging 1.00
R7568:Ncam2 UTSW 16 81,386,689 (GRCm39) missense probably benign 0.19
R7686:Ncam2 UTSW 16 81,418,342 (GRCm39) missense probably damaging 0.99
R7759:Ncam2 UTSW 16 81,412,672 (GRCm39) missense probably damaging 1.00
R7848:Ncam2 UTSW 16 81,287,267 (GRCm39) missense probably benign
R7932:Ncam2 UTSW 16 81,412,708 (GRCm39) missense probably damaging 0.99
R8078:Ncam2 UTSW 16 81,240,136 (GRCm39) missense possibly damaging 0.60
R8287:Ncam2 UTSW 16 81,323,883 (GRCm39) missense probably benign 0.07
R8354:Ncam2 UTSW 16 81,309,847 (GRCm39) missense probably benign 0.00
R8429:Ncam2 UTSW 16 81,386,523 (GRCm39) missense probably damaging 1.00
R8507:Ncam2 UTSW 16 81,309,867 (GRCm39) missense possibly damaging 0.63
R8546:Ncam2 UTSW 16 81,314,419 (GRCm39) missense probably benign 0.21
R8775:Ncam2 UTSW 16 81,314,429 (GRCm39) missense probably benign 0.18
R8775-TAIL:Ncam2 UTSW 16 81,314,429 (GRCm39) missense probably benign 0.18
R9082:Ncam2 UTSW 16 81,412,660 (GRCm39) missense probably damaging 1.00
R9346:Ncam2 UTSW 16 81,252,204 (GRCm39) missense probably benign 0.07
R9386:Ncam2 UTSW 16 81,252,252 (GRCm39) missense probably damaging 1.00
R9498:Ncam2 UTSW 16 81,309,887 (GRCm39) missense probably benign 0.03
R9510:Ncam2 UTSW 16 81,420,341 (GRCm39) makesense probably null
R9587:Ncam2 UTSW 16 81,262,501 (GRCm39) missense probably benign 0.00
R9616:Ncam2 UTSW 16 81,240,142 (GRCm39) missense probably damaging 1.00
R9642:Ncam2 UTSW 16 81,418,251 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTCACTGGGGAAAGAACTTGGAAATGA -3'
(R):5'- GTAGGTTGGCTCTGACATCCTTACAC -3'

Sequencing Primer
(F):5'- TTCAACCTCAGACAAATGTCATTC -3'
(R):5'- TGACATCCTTACACTTGGATGG -3'
Posted On 2013-06-12