Incidental Mutation 'IGL01945:Cntn4'
ID 279218
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cntn4
Ensembl Gene ENSMUSG00000064293
Gene Name contactin 4
Synonyms BIG-2A, Axcam
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # IGL01945
Quality Score
Status
Chromosome 6
Chromosomal Location 105654621-106676271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106414865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 132 (V132E)
Ref Sequence ENSEMBL: ENSMUSP00000078385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [ENSMUST00000113258] [ENSMUST00000113260] [ENSMUST00000113261] [ENSMUST00000113264]
AlphaFold Q69Z26
Predicted Effect probably damaging
Transcript: ENSMUST00000079416
AA Change: V132E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: V132E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 41 107 2.32e-8 SMART
IG 129 215 3.4e-6 SMART
IGc2 238 302 8.76e-18 SMART
IGc2 328 391 2.91e-14 SMART
IGc2 420 484 1.58e-10 SMART
IG 504 594 9.55e-10 SMART
FN3 597 683 1.54e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000089208
AA Change: V132E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: V132E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 41 107 2.32e-8 SMART
IG 129 215 3.4e-6 SMART
IGc2 238 302 8.76e-18 SMART
IGc2 328 391 2.91e-14 SMART
IGc2 420 484 1.58e-10 SMART
IG 504 594 9.55e-10 SMART
FN3 597 683 1.54e-11 SMART
FN3 700 786 8.39e0 SMART
FN3 801 886 1.33e-6 SMART
FN3 901 981 9.85e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113258
AA Change: V132E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108883
Gene: ENSMUSG00000064293
AA Change: V132E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 41 107 2.32e-8 SMART
IG 129 215 3.4e-6 SMART
IGc2 238 302 8.76e-18 SMART
IGc2 328 391 2.91e-14 SMART
IGc2 420 484 1.58e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113260
AA Change: V132E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: V132E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 41 107 2.32e-8 SMART
IG 129 215 3.4e-6 SMART
IGc2 238 302 8.76e-18 SMART
IGc2 328 391 2.91e-14 SMART
IGc2 420 484 1.58e-10 SMART
IG 504 594 9.55e-10 SMART
FN3 597 683 1.54e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113261
AA Change: V132E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: V132E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 41 107 2.32e-8 SMART
IG 129 215 3.4e-6 SMART
IGc2 238 302 8.76e-18 SMART
IGc2 328 391 2.91e-14 SMART
IGc2 420 484 1.58e-10 SMART
IG 504 594 9.55e-10 SMART
FN3 597 683 1.54e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113264
AA Change: V132E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: V132E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGc2 41 107 2.32e-8 SMART
IG 129 215 3.4e-6 SMART
IGc2 238 302 8.76e-18 SMART
IGc2 328 391 2.91e-14 SMART
IGc2 420 484 1.58e-10 SMART
IG 504 594 9.55e-10 SMART
FN3 597 683 1.54e-11 SMART
FN3 700 786 8.39e0 SMART
FN3 801 886 1.33e-6 SMART
FN3 901 981 9.85e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125904
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 109,974,130 (GRCm39) probably benign Het
Acta2 A G 19: 34,229,254 (GRCm39) V45A probably benign Het
Adam11 G A 11: 102,663,736 (GRCm39) V305M probably damaging Het
Adcy1 A G 11: 7,111,891 (GRCm39) K919E probably damaging Het
Afap1l1 T C 18: 61,889,934 (GRCm39) T101A probably benign Het
Apbb2 T A 5: 66,557,594 (GRCm39) D289V probably damaging Het
Appl1 A G 14: 26,650,612 (GRCm39) V520A possibly damaging Het
Atp5mc3 G A 2: 73,741,313 (GRCm39) R9C probably benign Het
Atp8a2 A G 14: 60,263,609 (GRCm39) L375P probably damaging Het
Cavin1 A T 11: 100,861,246 (GRCm39) F16Y probably benign Het
Ccdc185 C A 1: 182,576,441 (GRCm39) V83L probably benign Het
Ccdc80 T A 16: 44,938,608 (GRCm39) S772T probably damaging Het
Coa5 A T 1: 37,468,979 (GRCm39) C24S probably damaging Het
Col6a5 A T 9: 105,805,489 (GRCm39) V1139D unknown Het
Ddx46 C A 13: 55,802,885 (GRCm39) S469* probably null Het
Ep300 A G 15: 81,500,310 (GRCm39) probably benign Het
Fcna A T 2: 25,517,847 (GRCm39) M1K probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gstm3 T C 3: 107,874,973 (GRCm39) E93G probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Hepacam2 T A 6: 3,487,117 (GRCm39) Y4F probably benign Het
Hipk1 T C 3: 103,651,320 (GRCm39) I1148V possibly damaging Het
Il1r2 A G 1: 40,141,613 (GRCm39) T9A possibly damaging Het
Kl A T 5: 150,912,402 (GRCm39) D717V probably damaging Het
Krt75 G A 15: 101,478,599 (GRCm39) T345M possibly damaging Het
Myo5a T A 9: 75,047,953 (GRCm39) H260Q probably damaging Het
Nckap1l G A 15: 103,370,069 (GRCm39) G156D probably damaging Het
Nlrp1b T G 11: 71,072,233 (GRCm39) T537P probably damaging Het
Nudt17 A G 3: 96,614,355 (GRCm39) I201T probably damaging Het
Or5k3 T C 16: 58,969,827 (GRCm39) S205P probably benign Het
Or6c8 A T 10: 128,915,172 (GRCm39) I220N probably damaging Het
Or7g27 A T 9: 19,250,628 (GRCm39) S291C probably damaging Het
Padi6 T C 4: 140,469,235 (GRCm39) D35G probably benign Het
Plcb1 A T 2: 135,062,711 (GRCm39) Y107F probably benign Het
Plek2 T A 12: 78,938,922 (GRCm39) H279L probably damaging Het
Plk2 A G 13: 110,535,588 (GRCm39) D470G possibly damaging Het
Ranbp17 T C 11: 33,278,520 (GRCm39) T116A possibly damaging Het
Rbck1 G A 2: 152,160,236 (GRCm39) P481L probably damaging Het
Reps1 A G 10: 17,969,584 (GRCm39) N229S probably benign Het
Rngtt T C 4: 33,339,073 (GRCm39) W293R probably damaging Het
Robo1 A T 16: 72,759,114 (GRCm39) I376F probably damaging Het
Ryr2 T A 13: 11,805,249 (GRCm39) I872F probably damaging Het
Sgip1 T C 4: 102,823,439 (GRCm39) Y707H probably damaging Het
Slc17a5 G T 9: 78,495,214 (GRCm39) D12E probably benign Het
Slco1a5 T A 6: 142,189,715 (GRCm39) probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strap A G 6: 137,718,333 (GRCm39) I146V probably benign Het
Tcim A T 8: 24,928,892 (GRCm39) H7Q probably benign Het
Tgfbr3 A G 5: 107,269,224 (GRCm39) probably null Het
Thada G T 17: 84,530,194 (GRCm39) T1725N probably benign Het
Trhr T C 15: 44,060,540 (GRCm39) V20A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wnt5a A G 14: 28,240,519 (GRCm39) N223S probably damaging Het
Other mutations in Cntn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Cntn4 APN 6 106,483,186 (GRCm39) missense probably damaging 1.00
IGL00725:Cntn4 APN 6 106,639,616 (GRCm39) missense probably damaging 1.00
IGL01062:Cntn4 APN 6 106,595,239 (GRCm39) splice site probably benign
IGL01432:Cntn4 APN 6 106,655,295 (GRCm39) splice site probably benign
IGL01585:Cntn4 APN 6 106,595,289 (GRCm39) nonsense probably null
IGL01710:Cntn4 APN 6 106,527,392 (GRCm39) missense possibly damaging 0.87
IGL01870:Cntn4 APN 6 106,466,676 (GRCm39) missense possibly damaging 0.95
IGL01933:Cntn4 APN 6 106,671,345 (GRCm39) missense probably damaging 0.99
IGL01937:Cntn4 APN 6 106,414,865 (GRCm39) missense probably damaging 1.00
IGL02007:Cntn4 APN 6 106,632,490 (GRCm39) missense probably benign 0.03
IGL02506:Cntn4 APN 6 106,595,349 (GRCm39) missense probably benign 0.24
IGL02561:Cntn4 APN 6 106,500,470 (GRCm39) missense probably damaging 1.00
IGL03080:Cntn4 APN 6 106,632,500 (GRCm39) missense probably damaging 1.00
IGL03338:Cntn4 APN 6 106,632,550 (GRCm39) missense probably damaging 0.98
IGL03097:Cntn4 UTSW 6 106,330,673 (GRCm39) missense probably benign 0.10
LCD18:Cntn4 UTSW 6 106,530,901 (GRCm39) intron probably benign
R0083:Cntn4 UTSW 6 106,502,330 (GRCm39) missense possibly damaging 0.79
R0098:Cntn4 UTSW 6 106,595,385 (GRCm39) splice site probably benign
R0501:Cntn4 UTSW 6 106,595,296 (GRCm39) missense probably damaging 1.00
R0626:Cntn4 UTSW 6 106,639,539 (GRCm39) missense probably benign 0.07
R0633:Cntn4 UTSW 6 106,656,209 (GRCm39) splice site probably null
R0730:Cntn4 UTSW 6 106,527,447 (GRCm39) missense probably damaging 1.00
R0849:Cntn4 UTSW 6 106,644,418 (GRCm39) missense probably damaging 1.00
R0883:Cntn4 UTSW 6 106,644,501 (GRCm39) splice site probably benign
R0926:Cntn4 UTSW 6 106,632,542 (GRCm39) missense probably benign 0.21
R1199:Cntn4 UTSW 6 106,330,558 (GRCm39) splice site probably benign
R1293:Cntn4 UTSW 6 106,330,685 (GRCm39) missense probably benign 0.00
R1296:Cntn4 UTSW 6 106,486,363 (GRCm39) missense probably damaging 1.00
R1344:Cntn4 UTSW 6 106,321,831 (GRCm39) splice site probably null
R1418:Cntn4 UTSW 6 106,321,831 (GRCm39) splice site probably null
R1660:Cntn4 UTSW 6 106,656,258 (GRCm39) missense probably benign 0.35
R1751:Cntn4 UTSW 6 106,595,371 (GRCm39) critical splice donor site probably null
R1883:Cntn4 UTSW 6 106,656,353 (GRCm39) missense probably benign 0.01
R1884:Cntn4 UTSW 6 106,656,353 (GRCm39) missense probably benign 0.01
R1899:Cntn4 UTSW 6 106,652,774 (GRCm39) missense probably benign 0.21
R1906:Cntn4 UTSW 6 106,330,607 (GRCm39) missense probably benign 0.00
R2048:Cntn4 UTSW 6 106,414,825 (GRCm39) splice site probably benign
R2113:Cntn4 UTSW 6 106,466,658 (GRCm39) missense probably damaging 1.00
R3177:Cntn4 UTSW 6 106,414,925 (GRCm39) critical splice donor site probably null
R3277:Cntn4 UTSW 6 106,414,925 (GRCm39) critical splice donor site probably null
R3944:Cntn4 UTSW 6 106,595,375 (GRCm39) missense probably benign 0.10
R4401:Cntn4 UTSW 6 106,466,625 (GRCm39) missense possibly damaging 0.94
R4540:Cntn4 UTSW 6 106,652,709 (GRCm39) missense probably damaging 1.00
R4688:Cntn4 UTSW 6 106,414,910 (GRCm39) missense probably damaging 1.00
R4697:Cntn4 UTSW 6 106,502,446 (GRCm39) missense probably damaging 1.00
R4810:Cntn4 UTSW 6 106,632,572 (GRCm39) missense probably benign 0.04
R4816:Cntn4 UTSW 6 106,527,458 (GRCm39) missense probably benign
R4873:Cntn4 UTSW 6 106,414,874 (GRCm39) missense possibly damaging 0.61
R4875:Cntn4 UTSW 6 106,414,874 (GRCm39) missense possibly damaging 0.61
R4953:Cntn4 UTSW 6 106,502,379 (GRCm39) missense probably benign 0.01
R5288:Cntn4 UTSW 6 106,158,765 (GRCm39) missense possibly damaging 0.60
R5336:Cntn4 UTSW 6 106,639,595 (GRCm39) missense possibly damaging 0.72
R5386:Cntn4 UTSW 6 106,158,765 (GRCm39) missense possibly damaging 0.60
R5477:Cntn4 UTSW 6 106,650,911 (GRCm39) missense possibly damaging 0.88
R5514:Cntn4 UTSW 6 106,649,844 (GRCm39) missense probably damaging 1.00
R5668:Cntn4 UTSW 6 106,656,397 (GRCm39) splice site silent
R6334:Cntn4 UTSW 6 106,321,747 (GRCm39) missense probably benign
R6334:Cntn4 UTSW 6 106,483,153 (GRCm39) missense probably benign 0.29
R6904:Cntn4 UTSW 6 106,674,544 (GRCm39) missense probably benign 0.03
R6985:Cntn4 UTSW 6 106,656,378 (GRCm39) missense probably benign 0.03
R7246:Cntn4 UTSW 6 106,483,180 (GRCm39) missense probably damaging 1.00
R7282:Cntn4 UTSW 6 106,502,421 (GRCm39) missense probably damaging 0.99
R7585:Cntn4 UTSW 6 106,466,572 (GRCm39) missense probably damaging 1.00
R7667:Cntn4 UTSW 6 106,656,856 (GRCm39) missense possibly damaging 0.83
R7781:Cntn4 UTSW 6 106,500,575 (GRCm39) missense probably damaging 1.00
R7882:Cntn4 UTSW 6 106,330,684 (GRCm39) missense probably benign
R8081:Cntn4 UTSW 6 106,651,568 (GRCm39) missense possibly damaging 0.95
R8105:Cntn4 UTSW 6 106,330,567 (GRCm39) missense probably damaging 1.00
R8221:Cntn4 UTSW 6 106,486,471 (GRCm39) missense probably benign 0.17
R8910:Cntn4 UTSW 6 106,632,497 (GRCm39) missense probably benign 0.10
R8911:Cntn4 UTSW 6 106,330,743 (GRCm39) critical splice donor site probably null
R8916:Cntn4 UTSW 6 106,652,915 (GRCm39) missense probably damaging 0.99
R9249:Cntn4 UTSW 6 106,466,722 (GRCm39) missense possibly damaging 0.95
R9376:Cntn4 UTSW 6 106,639,591 (GRCm39) missense probably damaging 1.00
R9616:Cntn4 UTSW 6 106,674,525 (GRCm39) nonsense probably null
R9767:Cntn4 UTSW 6 106,655,395 (GRCm39) missense probably benign 0.40
Z1176:Cntn4 UTSW 6 106,500,524 (GRCm39) missense probably benign 0.00
Z1176:Cntn4 UTSW 6 106,486,425 (GRCm39) missense probably benign 0.28
Z1177:Cntn4 UTSW 6 106,639,579 (GRCm39) missense probably damaging 1.00
Z1177:Cntn4 UTSW 6 106,527,386 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16