Incidental Mutation 'R1883:Cntn4'
ID 209254
Institutional Source Beutler Lab
Gene Symbol Cntn4
Ensembl Gene ENSMUSG00000064293
Gene Name contactin 4
Synonyms BIG-2A, Axcam
MMRRC Submission 039904-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R1883 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 105654621-106676271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106656353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 885 (T885A)
Ref Sequence ENSEMBL: ENSMUSP00000108889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089208] [ENSMUST00000113264]
AlphaFold Q69Z26
Predicted Effect probably benign
Transcript: ENSMUST00000089208
AA Change: T885A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: T885A

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: ENSMUST00000113264
AA Change: T885A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: T885A

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: ENSMUST00000123596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204621
Meta Mutation Damage Score 0.0617 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 T C 7: 140,682,244 (GRCm39) E677G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bhmt1b T C 18: 87,774,669 (GRCm39) L64P probably damaging Het
Brs3 T C X: 56,092,449 (GRCm39) I311T probably benign Het
Capn9 A G 8: 125,338,297 (GRCm39) K552R probably benign Het
Catsperg1 C T 7: 28,881,661 (GRCm39) probably null Het
Cdc16 A G 8: 13,825,738 (GRCm39) N449D probably damaging Het
Cdyl2 A T 8: 117,321,902 (GRCm39) N208K probably damaging Het
Cnot4 C T 6: 35,055,092 (GRCm39) V66I probably damaging Het
Col20a1 C T 2: 180,634,703 (GRCm39) T131I possibly damaging Het
Crybg2 C A 4: 133,801,594 (GRCm39) S918* probably null Het
Dact2 A T 17: 14,418,085 (GRCm39) S207T possibly damaging Het
Dbnl G A 11: 5,749,247 (GRCm39) G356E probably benign Het
Ddx18 C A 1: 121,495,645 (GRCm39) probably benign Het
Dis3 A T 14: 99,328,905 (GRCm39) H282Q probably benign Het
Dnah3 T C 7: 119,677,142 (GRCm39) D453G probably benign Het
Dst T C 1: 34,228,389 (GRCm39) V1994A possibly damaging Het
Dusp8 C T 7: 141,638,085 (GRCm39) probably null Het
Eipr1 A T 12: 28,816,850 (GRCm39) H69L possibly damaging Het
Eml1 A G 12: 108,429,911 (GRCm39) R65G probably damaging Het
Epha7 C T 4: 28,950,362 (GRCm39) H722Y possibly damaging Het
Epyc A T 10: 97,511,695 (GRCm39) K229N possibly damaging Het
Extl1 A G 4: 134,091,917 (GRCm39) I312T probably benign Het
F13a1 G C 13: 37,172,981 (GRCm39) A133G probably benign Het
Fam185a G T 5: 21,630,242 (GRCm39) C26F possibly damaging Het
Fam186b T C 15: 99,176,679 (GRCm39) N737S probably damaging Het
Fam78b A G 1: 166,829,171 (GRCm39) I13V probably benign Het
Fat1 A T 8: 45,504,184 (GRCm39) Q4559L probably benign Het
Fnip1 T C 11: 54,406,373 (GRCm39) S1157P probably damaging Het
Foxj3 A C 4: 119,467,226 (GRCm39) M190L probably benign Het
Heatr3 T C 8: 88,871,221 (GRCm39) Y192H possibly damaging Het
Hexd T A 11: 121,098,524 (GRCm39) S3T probably benign Het
Klf3 C T 5: 64,980,224 (GRCm39) P5S probably damaging Het
Klf9 C T 19: 23,142,101 (GRCm39) S187L probably damaging Het
Krt9 T C 11: 100,079,523 (GRCm39) H623R unknown Het
Krtap2-4 G C 11: 99,505,505 (GRCm39) probably benign Het
Lmtk3 T C 7: 45,436,273 (GRCm39) Y84H probably damaging Het
Mroh3 G T 1: 136,134,731 (GRCm39) A166D probably damaging Het
Musk C A 4: 58,373,189 (GRCm39) P697T probably benign Het
Nek9 A G 12: 85,379,330 (GRCm39) L192P probably damaging Het
Nipbl A C 15: 8,356,616 (GRCm39) F1590C probably damaging Het
Nrk G T X: 137,907,922 (GRCm39) V1455F probably damaging Het
Nsun3 T C 16: 62,555,656 (GRCm39) D290G probably damaging Het
Obscn T C 11: 58,969,029 (GRCm39) T222A probably damaging Het
Or2a12 T C 6: 42,904,764 (GRCm39) S200P probably damaging Het
Or51f1d T C 7: 102,701,189 (GRCm39) I228T probably benign Het
Or6b9 T C 7: 106,555,981 (GRCm39) H54R probably benign Het
Osbpl11 T G 16: 33,034,723 (GRCm39) H237Q probably benign Het
Pde10a A T 17: 9,197,776 (GRCm39) T671S possibly damaging Het
Pkd2 A T 5: 104,631,094 (GRCm39) N506I probably damaging Het
Ppp3cb A G 14: 20,573,913 (GRCm39) V274A possibly damaging Het
Prex1 T C 2: 166,425,192 (GRCm39) D938G probably benign Het
Ptch1 G A 13: 63,659,841 (GRCm39) Q1134* probably null Het
Rasgrf2 A G 13: 92,117,149 (GRCm39) V820A probably benign Het
Rimbp2 C T 5: 128,880,998 (GRCm39) V137M possibly damaging Het
Rpa1 A G 11: 75,209,309 (GRCm39) V137A probably benign Het
Rps6ka1 A C 4: 133,591,354 (GRCm39) I299S probably damaging Het
Scn3b A C 9: 40,190,669 (GRCm39) probably null Het
Sdha A T 13: 74,481,255 (GRCm39) I317N probably damaging Het
Serpina1d T A 12: 103,732,037 (GRCm39) D274V possibly damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Snx14 T A 9: 88,284,314 (GRCm39) E451D probably benign Het
Spmip4 T C 6: 50,551,433 (GRCm39) T339A probably benign Het
Swt1 T A 1: 151,299,284 (GRCm39) K8* probably null Het
Tas1r3 G T 4: 155,946,610 (GRCm39) P332T probably damaging Het
Tas2r126 A T 6: 42,411,961 (GRCm39) T165S probably benign Het
Tecpr1 A G 5: 144,143,347 (GRCm39) V676A probably benign Het
Tg A G 15: 66,543,158 (GRCm39) E24G probably damaging Het
Tlr7 C T X: 166,089,468 (GRCm39) G673S probably benign Het
Tnxb T A 17: 34,908,539 (GRCm39) D1520E probably benign Het
Trabd A G 15: 88,966,184 (GRCm39) E47G probably damaging Het
Trim29 T A 9: 43,222,702 (GRCm39) I177N probably damaging Het
Ubxn2a A T 12: 4,944,563 (GRCm39) L53* probably null Het
Ulk2 A G 11: 61,721,438 (GRCm39) L208P probably damaging Het
Unc80 G A 1: 66,564,929 (GRCm39) C872Y possibly damaging Het
Vac14 A G 8: 111,438,319 (GRCm39) H644R probably damaging Het
Vmn1r20 C A 6: 57,409,306 (GRCm39) H211N probably benign Het
Vmn1r31 C T 6: 58,449,029 (GRCm39) V279I probably damaging Het
Vmn2r18 G T 5: 151,499,190 (GRCm39) Q425K probably benign Het
Vmn2r60 T C 7: 41,786,094 (GRCm39) V299A probably damaging Het
Vps54 A T 11: 21,262,967 (GRCm39) T685S possibly damaging Het
Vwa5b1 A G 4: 138,302,700 (GRCm39) W932R probably damaging Het
Wdr53 A T 16: 32,075,316 (GRCm39) I174F possibly damaging Het
Zfp157 A G 5: 138,443,102 (GRCm39) D31G probably damaging Het
Zfp60 T C 7: 27,449,435 (GRCm39) L701P probably benign Het
Zfp609 A T 9: 65,702,040 (GRCm39) M204K probably benign Het
Zfp831 A G 2: 174,545,870 (GRCm39) H1325R possibly damaging Het
Zfp995 A T 17: 22,099,622 (GRCm39) I204N probably benign Het
Zp2 C T 7: 119,732,624 (GRCm39) D641N probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGTCTCCCCAGTGGATATAATTTCC -3'
(R):5'- TGGCATGCTATTCTGAAAGGTTC -3'

Sequencing Primer
(F):5'- CCCCAGTGGATATAATTTCCAAGGTC -3'
(R):5'- GGTTCAGTTAAAATGCTAAGGTGC -3'
Posted On 2014-06-30