Incidental Mutation 'R0087:Ncam2'
ID 19980
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 038374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0087 (G1)
Quality Score 200
Status Validated (trace)
Chromosome 16
Chromosomal Location 80997585-81423716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81231789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 84 (N84K)
Ref Sequence ENSEMBL: ENSMUSP00000063468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037785] [ENSMUST00000067602]
AlphaFold O35136
Predicted Effect probably benign
Transcript: ENSMUST00000037785
AA Change: N84K

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: N84K

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 benign
Transcript: ENSMUST00000067602
AA Change: N84K

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: N84K

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging 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
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
R0523:Ncam2 UTSW 16 81,258,531 (GRCm39) missense probably damaging 0.99
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'- GGACCAGACGGAGTCTTTAATGTTGC -3'
(R):5'- TGTTTGAGTCCTTCCTGATGAAACTGC -3'

Sequencing Primer
(F):5'- GTACAAGTTTCAGATCTCCAGGC -3'
(R):5'- GAAACTGCTGTGTCAATGACC -3'
Posted On 2013-04-11