Incidental Mutation 'R8916:Cntn4'
ID 678935
Institutional Source Beutler Lab
Gene Symbol Cntn4
Ensembl Gene ENSMUSG00000064293
Gene Name contactin 4
Synonyms BIG-2A, Axcam
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.313) question?
Stock # R8916 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 105654621-106676271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106652915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 795 (Y795N)
Ref Sequence ENSEMBL: ENSMUSP00000086616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [ENSMUST00000113260] [ENSMUST00000113261] [ENSMUST00000113264]
AlphaFold Q69Z26
Predicted Effect probably benign
Transcript: ENSMUST00000079416
SMART Domains Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293

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: Y795N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: Y795N

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 benign
Transcript: ENSMUST00000113260
SMART Domains Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293

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 benign
Transcript: ENSMUST00000113261
SMART Domains Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293

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: Y795N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: Y795N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A G 13: 70,941,307 (GRCm39) L360S probably damaging Het
AW554918 T C 18: 25,423,049 (GRCm39) Y167H probably damaging Het
Cdh18 A T 15: 23,410,813 (GRCm39) I433F probably damaging Het
Cenpj A T 14: 56,790,352 (GRCm39) F566I probably damaging Het
Col4a4 C T 1: 82,501,667 (GRCm39) G362E unknown Het
Crebrf A G 17: 26,958,583 (GRCm39) T18A probably damaging Het
D130043K22Rik G A 13: 25,056,254 (GRCm39) V529I probably benign Het
Dars2 T C 1: 160,881,552 (GRCm39) T326A probably benign Het
Eif4e T C 3: 138,256,043 (GRCm39) probably benign Het
Enpp2 T C 15: 54,733,722 (GRCm39) M413V possibly damaging Het
Fbn1 T C 2: 125,245,149 (GRCm39) D246G possibly damaging Het
Foxred2 A G 15: 77,837,514 (GRCm39) S241P probably damaging Het
Fras1 T C 5: 96,900,774 (GRCm39) F2998L probably damaging Het
Garin4 A G 1: 190,895,857 (GRCm39) I262T probably benign Het
Grb10 T C 11: 11,901,599 (GRCm39) T192A probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Heatr5a AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA 12: 51,934,702 (GRCm39) probably benign Het
Hinfp A T 9: 44,209,673 (GRCm39) F234I probably damaging Het
Hmcn1 A T 1: 150,649,530 (GRCm39) I652N probably damaging Het
Kif24 T C 4: 41,394,963 (GRCm39) K771E probably benign Het
Lhcgr A G 17: 89,061,170 (GRCm39) probably null Het
Lnpk A T 2: 74,358,486 (GRCm39) S358T probably benign Het
Lpcat2 A T 8: 93,596,316 (GRCm39) M118L probably benign Het
Lypd1 T A 1: 125,801,120 (GRCm39) T127S unknown Het
Mettl23 C T 11: 116,740,111 (GRCm39) T194I probably damaging Het
Mga T C 2: 119,788,819 (GRCm39) V2227A possibly damaging Het
Mus81 A T 19: 5,534,214 (GRCm39) V368E probably damaging Het
Myo3a T A 2: 22,457,704 (GRCm39) F1046I probably damaging Het
Nfia G A 4: 97,888,667 (GRCm39) V222I probably benign Het
Niban2 T A 2: 32,811,106 (GRCm39) M372K possibly damaging Het
Nop9 A G 14: 55,991,101 (GRCm39) E586G probably benign Het
Nr2e1 G A 10: 42,443,864 (GRCm39) A286V possibly damaging Het
Nup153 G A 13: 46,863,462 (GRCm39) Q300* probably null Het
Plaat1 A G 16: 29,039,259 (GRCm39) D113G possibly damaging Het
Pnp2 T C 14: 51,201,234 (GRCm39) L202P probably damaging Het
Prss3b T A 6: 41,010,103 (GRCm39) H77L probably damaging Het
Psen2 A G 1: 180,063,495 (GRCm39) F183L probably benign Het
Rint1 G T 5: 23,992,826 (GRCm39) probably benign Het
Rsf1 GGC GGCGGCGGCCGC 7: 97,229,140 (GRCm39) probably benign Het
Ryr3 C A 2: 112,608,635 (GRCm39) R2335L probably damaging Het
Scn1a T C 2: 66,108,127 (GRCm39) D1544G probably damaging Het
Sec31b A C 19: 44,520,783 (GRCm39) S175A Het
Sgcg A G 14: 61,474,341 (GRCm39) S101P probably damaging Het
Shb A T 4: 45,489,154 (GRCm39) S241T probably damaging Het
Slc47a2 A T 11: 61,193,118 (GRCm39) L545Q probably damaging Het
Spata31g1 C A 4: 42,973,034 (GRCm39) P789H probably damaging Het
Spef2 C A 15: 9,725,266 (GRCm39) E164* probably null Het
Sphkap A T 1: 83,255,108 (GRCm39) N880K possibly damaging Het
Taf2 A G 15: 54,899,931 (GRCm39) V894A probably benign Het
Tgfa T G 6: 86,248,436 (GRCm39) L146R probably damaging Het
Tlr3 C T 8: 45,856,076 (GRCm39) V35I probably benign Het
Tlr4 G A 4: 66,847,268 (GRCm39) V132I probably benign Het
Tsen34 C T 7: 3,697,340 (GRCm39) probably benign Het
Ttc13 T G 8: 125,409,976 (GRCm39) K412T probably damaging Het
Unc45b A G 11: 82,804,038 (GRCm39) I72V probably benign Het
Vmn1r195 A G 13: 22,463,139 (GRCm39) Y203C probably damaging Het
Vmn2r65 T A 7: 84,595,665 (GRCm39) T340S probably benign Het
Vmn2r88 T A 14: 51,648,593 (GRCm39) C46S Het
Ythdf2 A T 4: 131,931,830 (GRCm39) D443E probably damaging Het
Zeb2 T C 2: 44,886,796 (GRCm39) R754G probably damaging Het
Zfp236 T A 18: 82,664,351 (GRCm39) E478V probably damaging Het
Zfp287 A T 11: 62,605,136 (GRCm39) Y590* probably null Het
Zfp9 A T 6: 118,442,223 (GRCm39) C146* probably null 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
IGL01945: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
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
Predicted Primers PCR Primer
(F):5'- ATGGCAGAGGCTTTGGTTAC -3'
(R):5'- TGGAGAGCCATGTGTTTTCAC -3'

Sequencing Primer
(F):5'- ACGTGGTTGCCTTCCGG -3'
(R):5'- AATATGTACCCCAGGCTGGTC -3'
Posted On 2021-08-02