Incidental Mutation 'IGL01138:Ncam2'
ID 52967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncam2
Ensembl Gene ENSMUSG00000022762
Gene Name neural cell adhesion molecule 2
Synonyms Ncam-2, RNCAM, R4B12 antigen, Ocam
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01138
Quality Score
Status
Chromosome 16
Chromosomal Location 80997585-81423716 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81314467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 481 (I481K)
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: I481K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049390
Gene: ENSMUSG00000022762
AA Change: I481K

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: I481K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063468
Gene: ENSMUSG00000022762
AA Change: I481K

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: ENSMUST00000232550
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 61,002,673 (GRCm39) V27A probably benign Het
Abcg5 T A 17: 84,972,275 (GRCm39) R499S possibly damaging Het
Adamts13 T C 2: 26,873,054 (GRCm39) S341P probably damaging Het
Adgrg1 T A 8: 95,730,085 (GRCm39) C96S probably damaging Het
Arhgap44 A G 11: 64,932,275 (GRCm39) F215S probably damaging Het
Arhgef25 A G 10: 127,020,039 (GRCm39) F400L probably damaging Het
Baz1a T C 12: 54,977,110 (GRCm39) E384G probably damaging Het
Col12a1 T C 9: 79,585,335 (GRCm39) D1314G probably damaging Het
Col6a3 T A 1: 90,735,232 (GRCm39) I806F probably damaging Het
Coro1c G A 5: 113,990,222 (GRCm39) probably benign Het
Dnmt3b A T 2: 153,503,361 (GRCm39) D4V probably benign Het
Ermn G T 2: 57,942,707 (GRCm39) L8M possibly damaging Het
F13b T A 1: 139,444,950 (GRCm39) N533K probably damaging Het
Fam171a1 T C 2: 3,203,657 (GRCm39) V93A possibly damaging Het
Gpr107 T A 2: 31,062,028 (GRCm39) L152Q probably benign Het
Guca1a C A 17: 47,711,309 (GRCm39) E12D probably damaging Het
Igtp A G 11: 58,096,970 (GRCm39) N47S possibly damaging Het
Lratd2 T A 15: 60,694,967 (GRCm39) I260F probably damaging Het
Lrrc8e A G 8: 4,284,084 (GRCm39) N103S probably damaging Het
Lsmem1 A G 12: 40,230,698 (GRCm39) L68P probably damaging Het
Maml3 A G 3: 51,597,979 (GRCm39) S902P possibly damaging Het
Mkln1 A T 6: 31,409,925 (GRCm39) N188Y probably damaging Het
Mlxip C T 5: 123,588,219 (GRCm39) R771W probably damaging Het
Myf6 T C 10: 107,330,259 (GRCm39) R103G probably damaging Het
Nrap T A 19: 56,343,970 (GRCm39) S645C probably damaging Het
Nup205 G T 6: 35,185,019 (GRCm39) E813* probably null Het
Or13c7c A G 4: 43,835,617 (GRCm39) L291P probably damaging Het
Plekhg5 C T 4: 152,191,435 (GRCm39) R410W probably damaging Het
Pnma8b C A 7: 16,679,088 (GRCm39) T24K unknown Het
Polq A T 16: 36,866,231 (GRCm39) Y476F possibly damaging Het
Prkd2 T C 7: 16,582,736 (GRCm39) S200P probably damaging Het
Rif1 C A 2: 52,001,534 (GRCm39) L1663I probably damaging Het
Serpina5 A G 12: 104,070,003 (GRCm39) Y300C possibly damaging Het
Shroom4 T C X: 6,497,257 (GRCm39) S806P probably damaging Het
Sirpa T C 2: 129,472,085 (GRCm39) V290A probably damaging Het
Slc25a47 C T 12: 108,821,948 (GRCm39) R246C probably damaging Het
Slc9a6 A G X: 55,668,791 (GRCm39) D199G probably damaging Het
Smarca5 T A 8: 81,427,705 (GRCm39) K1048M possibly damaging Het
Sos2 C T 12: 69,663,623 (GRCm39) probably benign Het
Trpm5 T A 7: 142,628,306 (GRCm39) M990L probably benign Het
Vmn2r99 A T 17: 19,602,885 (GRCm39) T547S probably damaging Het
Vps13b T C 15: 35,446,916 (GRCm39) probably benign Het
Zfp994 G A 17: 22,421,649 (GRCm39) probably benign Het
Other mutations in Ncam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21