Incidental Mutation 'R4710:Ncam2'
ID 353236
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 042019-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4710 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 80997585-81423716 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 81262594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000063468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037785] [ENSMUST00000037785] [ENSMUST00000037785] [ENSMUST00000037785] [ENSMUST00000067602] [ENSMUST00000067602] [ENSMUST00000067602] [ENSMUST00000067602]
AlphaFold O35136
Predicted Effect probably null
Transcript: ENSMUST00000037785
SMART Domains Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762

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 null
Transcript: ENSMUST00000037785
SMART Domains Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762

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 null
Transcript: ENSMUST00000037785
SMART Domains Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762

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 null
Transcript: ENSMUST00000037785
SMART Domains Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762

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 null
Transcript: ENSMUST00000067602
SMART Domains Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762

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 probably null
Transcript: ENSMUST00000067602
SMART Domains Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762

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 probably null
Transcript: ENSMUST00000067602
SMART Domains Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762

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 probably null
Transcript: ENSMUST00000067602
SMART Domains Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762

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
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (75/76)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,618,262 (GRCm39) Q185L probably benign Het
Acaca T A 11: 84,283,163 (GRCm39) I2243N possibly damaging Het
Adamts18 A G 8: 114,433,558 (GRCm39) S1059P probably damaging Het
Aox4 A T 1: 58,294,797 (GRCm39) K1002M probably damaging Het
Ap1b1 A G 11: 4,981,664 (GRCm39) Y524C probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bpifb6 T A 2: 153,750,436 (GRCm39) I309N possibly damaging Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cntn2 T A 1: 132,455,963 (GRCm39) H185L possibly damaging Het
Col4a2 C A 8: 11,459,462 (GRCm39) P299Q probably benign Het
Commd3 A G 2: 18,679,093 (GRCm39) N106S probably benign Het
Coro7 T G 16: 4,452,797 (GRCm39) probably benign Het
Ctf1 C A 7: 127,316,252 (GRCm39) P66Q probably damaging Het
Dclre1c T C 2: 3,441,898 (GRCm39) probably null Het
Dnaaf3 A T 7: 4,529,493 (GRCm39) L317Q probably damaging Het
Dnah2 A G 11: 69,368,903 (GRCm39) L1667P probably damaging Het
Dpp4 A G 2: 62,190,659 (GRCm39) I399T probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Erg T C 16: 95,190,893 (GRCm39) D90G possibly damaging Het
F11 T C 8: 45,703,183 (GRCm39) Y169C probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Gimd1 T C 3: 132,340,609 (GRCm39) S42P possibly damaging Het
Gm5526 T A 1: 45,896,579 (GRCm39) noncoding transcript Het
Gnl2 T A 4: 124,947,252 (GRCm39) S625T probably benign Het
H2-Q2 A G 17: 35,562,278 (GRCm39) E175G probably damaging Het
Hmgxb3 G A 18: 61,270,547 (GRCm39) P926S probably damaging Het
Ifi213 G A 1: 173,394,738 (GRCm39) probably benign Het
Inhba T C 13: 16,201,068 (GRCm39) V210A probably benign Het
Kansl1l G A 1: 66,840,655 (GRCm39) A215V possibly damaging Het
Kcnk1 T A 8: 126,756,267 (GRCm39) V263D probably damaging Het
Kcnk9 A G 15: 72,384,824 (GRCm39) I118T probably damaging Het
Lamb1 A G 12: 31,332,582 (GRCm39) I283V probably benign Het
Larp7-ps T C 4: 92,079,212 (GRCm39) E203G possibly damaging Het
Lias A G 5: 65,555,070 (GRCm39) D88G probably benign Het
Lrrk2 G A 15: 91,584,130 (GRCm39) V297M possibly damaging Het
Maea C T 5: 33,526,034 (GRCm39) R237C probably benign Het
Mdfi T A 17: 48,135,511 (GRCm39) N73I probably damaging Het
Mphosph6 T A 8: 118,528,641 (GRCm39) M1L probably damaging Het
Mta2 T A 19: 8,926,517 (GRCm39) I486N probably damaging Het
Nbr1 C T 11: 101,466,101 (GRCm39) P769L probably damaging Het
Ndel1 A G 11: 68,736,163 (GRCm39) Y26H probably damaging Het
Neb T C 2: 52,150,610 (GRCm39) R2473G probably benign Het
Or10ag53 T A 2: 87,082,384 (GRCm39) D34E possibly damaging Het
Or2t46 A T 11: 58,472,548 (GRCm39) I293F probably damaging Het
Or4c3d T C 2: 89,882,494 (GRCm39) Y58C probably damaging Het
Or5h19 T A 16: 58,856,638 (GRCm39) H154L possibly damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or9a2 G T 6: 41,748,442 (GRCm39) Q264K probably benign Het
Prkn A C 17: 12,073,720 (GRCm39) Q346P possibly damaging Het
Prrc2b T A 2: 32,083,869 (GRCm39) S236R possibly damaging Het
Rae1 G T 2: 172,857,185 (GRCm39) probably benign Het
Rnf112 T C 11: 61,340,657 (GRCm39) D491G probably damaging Het
Rnf220 C T 4: 117,146,411 (GRCm39) probably benign Het
Ryr3 G A 2: 112,596,646 (GRCm39) L2483F probably damaging Het
Sema6a T C 18: 47,403,750 (GRCm39) N624S probably benign Het
Sgms1 C T 19: 32,137,537 (GRCm39) V10M probably damaging Het
Slc23a2 T C 2: 131,898,629 (GRCm39) N636S probably benign Het
Slc25a48 C T 13: 56,611,379 (GRCm39) T162I probably damaging Het
Smtn G A 11: 3,474,663 (GRCm39) S716F probably damaging Het
Snrnp200 T C 2: 127,068,053 (GRCm39) L850P probably damaging Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sox18 A G 2: 181,312,688 (GRCm39) Y148H probably damaging Het
Stk-ps1 A G 17: 36,708,562 (GRCm39) noncoding transcript Het
Tas2r104 T A 6: 131,662,407 (GRCm39) T101S probably damaging Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn A G 2: 76,582,428 (GRCm39) Y22822H probably damaging Het
Vmn2r4 A G 3: 64,317,201 (GRCm39) probably null Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfat A T 15: 68,052,131 (GRCm39) D554E probably benign Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y 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
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
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
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'- CTGGCATCAAAAGTCTGTTATGG -3'
(R):5'- GATCATCCACAGAAACTGCTTTCC -3'

Sequencing Primer
(F):5'- CTGTGAATTGTAACCATTTTGTTCC -3'
(R):5'- TTTCTGAGTGGTAGTTTTAATAC -3'
Posted On 2015-10-21