Incidental Mutation 'R4953:Cntn4'
ID 381378
Institutional Source Beutler Lab
Gene Symbol Cntn4
Ensembl Gene ENSMUSG00000064293
Gene Name contactin 4
Synonyms BIG-2A, Axcam
MMRRC Submission 042550-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R4953 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 105654621-106676271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 106502379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 379 (A379T)
Ref Sequence ENSEMBL: ENSMUSP00000078385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [ENSMUST00000113258] [ENSMUST00000113260] [ENSMUST00000113261] [ENSMUST00000113264]
AlphaFold Q69Z26
Predicted Effect probably benign
Transcript: ENSMUST00000079416
AA Change: A379T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: A379T

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: ENSMUST00000089208
AA Change: A379T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: A379T

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: ENSMUST00000113258
AA Change: A379T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108883
Gene: ENSMUSG00000064293
AA Change: A379T

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 benign
Transcript: ENSMUST00000113260
AA Change: A379T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: A379T

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
AA Change: A379T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: A379T

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: ENSMUST00000113264
AA Change: A379T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: A379T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132395
Meta Mutation Damage Score 0.1575 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (113/116)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T C 3: 36,128,525 (GRCm39) Y129H probably damaging Het
Adcy4 C T 14: 56,016,486 (GRCm39) D322N probably damaging Het
Adgre1 G A 17: 57,748,321 (GRCm39) G507E probably damaging Het
Agpat5 G A 8: 18,918,971 (GRCm39) V118I probably benign Het
Aif1 T C 17: 35,390,074 (GRCm39) probably null Het
Akr1c6 A T 13: 4,488,608 (GRCm39) probably null Het
Akt2 T A 7: 27,337,597 (GRCm39) probably null Het
Ankrd35 T A 3: 96,590,989 (GRCm39) L425Q possibly damaging Het
Arhgap40 A G 2: 158,385,326 (GRCm39) T520A possibly damaging Het
Arhgef28 T A 13: 98,066,062 (GRCm39) D1597V possibly damaging Het
Aspm A G 1: 139,399,472 (GRCm39) D1079G probably benign Het
Atp1a2 A T 1: 172,119,009 (GRCm39) probably benign Het
Cage1 C A 13: 38,207,406 (GRCm39) E252D possibly damaging Het
Ccdc185 A G 1: 182,576,582 (GRCm39) S36P possibly damaging Het
Cd300a T C 11: 114,784,247 (GRCm39) V85A probably damaging Het
Cd38 A C 5: 44,064,887 (GRCm39) D235A possibly damaging Het
Cdcp1 T C 9: 123,009,088 (GRCm39) K530R probably benign Het
Ceacam20 T A 7: 19,705,651 (GRCm39) L214Q probably damaging Het
Col4a2 A T 8: 11,479,505 (GRCm39) E796V probably benign Het
Copa A G 1: 171,910,453 (GRCm39) probably benign Het
Cpa5 A G 6: 30,631,363 (GRCm39) T426A possibly damaging Het
Csmd1 A G 8: 16,249,931 (GRCm39) F1016L probably damaging Het
Cyb5r3 A T 15: 83,042,822 (GRCm39) L290* probably null Het
Ddx42 A G 11: 106,133,766 (GRCm39) T581A probably damaging Het
Deaf1 C T 7: 140,902,381 (GRCm39) G221S probably damaging Het
Dnah6 A G 6: 73,165,366 (GRCm39) S580P probably benign Het
Dock1 A G 7: 134,754,017 (GRCm39) E1598G probably benign Het
Drg2 T C 11: 60,350,262 (GRCm39) probably benign Het
Eif3f C A 7: 108,533,847 (GRCm39) probably benign Het
Fam184a G T 10: 53,574,901 (GRCm39) T236K probably benign Het
Gas7 C T 11: 67,550,876 (GRCm39) T126M possibly damaging Het
Gckr T G 5: 31,465,608 (GRCm39) F408C probably damaging Het
Gm17472 A G 6: 42,958,004 (GRCm39) D91G probably damaging Het
Gm5117 G A 8: 32,228,608 (GRCm39) noncoding transcript Het
Gsto1 T A 19: 47,843,759 (GRCm39) I47N probably damaging Het
Hck C T 2: 152,976,597 (GRCm39) P244S probably damaging Het
Hif3a T C 7: 16,784,490 (GRCm39) T250A probably damaging Het
Hmcn1 A T 1: 150,752,111 (GRCm39) probably benign Het
Impa1 G A 3: 10,380,340 (GRCm39) S247F probably damaging Het
Ints14 G C 9: 64,889,340 (GRCm39) R397P probably damaging Het
Iqgap1 T C 7: 80,373,524 (GRCm39) probably null Het
Krt1c T C 15: 101,722,377 (GRCm39) K436R probably damaging Het
Lama3 G A 18: 12,581,362 (GRCm39) C607Y probably damaging Het
Loxl4 G T 19: 42,599,133 (GRCm39) probably benign Het
Lrrc8d C T 5: 105,961,234 (GRCm39) T548M probably damaging Het
Man1b1 T A 2: 25,228,196 (GRCm39) D155E probably damaging Het
Mapk8ip2 C T 15: 89,341,431 (GRCm39) P214L probably benign Het
Mast1 G A 8: 85,645,357 (GRCm39) T696I probably damaging Het
Muc15 C T 2: 110,561,617 (GRCm39) P18S probably damaging Het
Mybl2 T C 2: 162,922,716 (GRCm39) S205P probably damaging Het
Mylk T C 16: 34,809,331 (GRCm39) S1763P probably damaging Het
Nek10 T A 14: 14,860,986 (GRCm38) L513M possibly damaging Het
Nfib A G 4: 82,271,808 (GRCm39) M252T probably benign Het
Nid2 C A 14: 19,828,146 (GRCm39) Y261* probably null Het
Nmd3 C T 3: 69,638,970 (GRCm39) R187C possibly damaging Het
Nomo1 G T 7: 45,700,155 (GRCm39) probably benign Het
Npy4r A G 14: 33,868,437 (GRCm39) F284L probably damaging Het
Nt5dc2 T C 14: 30,860,878 (GRCm39) V351A possibly damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or5b121 T A 19: 13,507,178 (GRCm39) L91Q probably null Het
Or5g27 T A 2: 85,410,069 (GRCm39) L162* probably null Het
Pcdhb12 T A 18: 37,569,209 (GRCm39) D118E probably damaging Het
Pdcd11 C T 19: 47,116,404 (GRCm39) T1518I probably benign Het
Pde6a T A 18: 61,364,434 (GRCm39) C163* probably null Het
Pign A T 1: 105,572,227 (GRCm39) W314R probably benign Het
Pip5k1b T A 19: 24,367,799 (GRCm39) H76L probably damaging Het
Plcz1 T C 6: 139,974,277 (GRCm39) N55S possibly damaging Het
Pou5f1 A T 17: 35,821,438 (GRCm39) H350L possibly damaging Het
Rchy1 A T 5: 92,110,487 (GRCm39) probably null Het
Ric8b A G 10: 84,793,946 (GRCm39) T270A possibly damaging Het
Rprml A G 11: 103,540,644 (GRCm39) E13G probably benign Het
Secisbp2 T A 13: 51,836,063 (GRCm39) I719N probably damaging Het
Sergef C T 7: 46,283,259 (GRCm39) R148H probably benign Het
Serpina6 T A 12: 103,618,221 (GRCm39) probably null Het
Sirpb1b C A 3: 15,613,887 (GRCm39) W65L probably damaging Het
Slc32a1 A T 2: 158,455,977 (GRCm39) I211F possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Smarce1 A G 11: 99,105,977 (GRCm39) V226A probably benign Het
Spata31d1b A T 13: 59,864,097 (GRCm39) E415V probably damaging Het
Speg G A 1: 75,400,508 (GRCm39) R2556H possibly damaging Het
Suclg2 A C 6: 95,543,417 (GRCm39) V338G probably damaging Het
Tarbp1 T C 8: 127,174,184 (GRCm39) E874G possibly damaging Het
Tex14 G T 11: 87,427,727 (GRCm39) probably null Het
Trim36 T A 18: 46,329,245 (GRCm39) D53V possibly damaging Het
Tsga10ip T A 19: 5,444,368 (GRCm39) Y21F possibly damaging Het
Ttn C T 2: 76,620,289 (GRCm39) V15849M probably damaging Het
Ube3b T C 5: 114,539,471 (GRCm39) S421P probably benign Het
Unc5a A T 13: 55,147,683 (GRCm39) M498L probably benign Het
Vipr2 A G 12: 116,107,876 (GRCm39) I420M probably benign Het
Vmn1r179 T A 7: 23,628,515 (GRCm39) H235Q probably damaging Het
Vps35 T A 8: 86,008,475 (GRCm39) I267F probably damaging Het
Wdr26 G A 1: 181,025,216 (GRCm39) R279W probably damaging Het
Xpo6 C A 7: 125,768,443 (GRCm39) R88L probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp105 T A 9: 122,758,880 (GRCm39) S184T probably benign Het
Zfp574 G A 7: 24,780,388 (GRCm39) R470H probably damaging Het
Zswim9 T A 7: 13,003,484 (GRCm39) H122L 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
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
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
Predicted Primers PCR Primer
(F):5'- CCATTTGCCATCTGACCTGG -3'
(R):5'- CCATTGCTTGCAGGCTATATG -3'

Sequencing Primer
(F):5'- ACTTGACAAATAAGCAGATCGTG -3'
(R):5'- CCATTGCTTGCAGGCTATATGACTTG -3'
Posted On 2016-04-27