Incidental Mutation 'R8911:Cntn4'
ID 678617
Institutional Source Beutler Lab
Gene Symbol Cntn4
Ensembl Gene ENSMUSG00000064293
Gene Name contactin 4
Synonyms BIG-2A, Axcam
MMRRC Submission 068764-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R8911 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 105654621-106676271 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 106330743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [ENSMUST00000113258] [ENSMUST00000113260] [ENSMUST00000113261] [ENSMUST00000113264]
AlphaFold Q69Z26
PDB Structure Immunoglobulin domains 1-4 of mouse CNTN4 [X-RAY DIFFRACTION]
PTPRG CNTN4 complex [X-RAY DIFFRACTION]
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 benign
Transcript: ENSMUST00000089208
SMART Domains Protein: ENSMUSP00000086616
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
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
SMART Domains Protein: ENSMUSP00000108883
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
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 null
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 benign
Transcript: ENSMUST00000113264
SMART Domains Protein: ENSMUSP00000108889
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
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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (76/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,429,234 (GRCm39) I774F probably benign Het
3425401B19Rik A T 14: 32,383,626 (GRCm39) C780S possibly damaging Het
Abca12 T C 1: 71,380,690 (GRCm39) D306G probably benign Het
Adgrl2 T C 3: 148,558,163 (GRCm39) probably benign Het
Agt T C 8: 125,291,184 (GRCm39) Y41C probably benign Het
Alx3 G T 3: 107,511,603 (GRCm39) R204L probably damaging Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Bcl11a C T 11: 24,114,763 (GRCm39) P702L probably damaging Het
Bpifa2 A G 2: 153,851,090 (GRCm39) N17S probably benign Het
Cabcoco1 T C 10: 68,377,584 (GRCm39) D35G probably benign Het
Cd69 T C 6: 129,252,187 (GRCm39) K21R probably benign Het
Cdhr18 T C 14: 13,823,796 (GRCm38) probably null Het
Cntnap5c A C 17: 58,506,043 (GRCm39) N689T probably damaging Het
Cog5 A G 12: 31,883,238 (GRCm39) Y389C probably damaging Het
Col5a1 T C 2: 27,887,630 (GRCm39) probably null Het
Coro1b G A 19: 4,200,803 (GRCm39) R245Q probably damaging Het
Csmd1 T C 8: 16,748,019 (GRCm39) D244G probably damaging Het
Ctcfl C T 2: 172,937,121 (GRCm39) probably null Het
Dpy19l4 G A 4: 11,317,078 (GRCm39) P40L possibly damaging Het
Dsg4 C A 18: 20,584,929 (GRCm39) Y214* probably null Het
Eapp A T 12: 54,739,440 (GRCm39) probably benign Het
Fmo6 T C 1: 162,748,114 (GRCm39) T317A possibly damaging Het
Gm11595 A G 11: 99,663,564 (GRCm39) C39R unknown Het
Golim4 T C 3: 75,813,703 (GRCm39) probably benign Het
Greb1 G A 12: 16,740,903 (GRCm39) S1393L possibly damaging Het
Guca1b A G 17: 47,700,044 (GRCm39) I73V probably benign Het
Hdac7 C T 15: 97,694,789 (GRCm39) V796I possibly damaging Het
Hectd1 A G 12: 51,795,616 (GRCm39) I2271T probably damaging Het
Heg1 T G 16: 33,558,627 (GRCm39) Y1066* probably null Het
Helz2 C A 2: 180,880,173 (GRCm39) K514N Het
Ice1 C T 13: 70,740,787 (GRCm39) R70Q Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itgae A G 11: 73,004,447 (GRCm39) T245A probably damaging Het
Jhy G A 9: 40,822,453 (GRCm39) Q562* probably null Het
Khnyn A G 14: 56,124,735 (GRCm39) R330G probably benign Het
Lamc2 A T 1: 153,027,873 (GRCm39) C184S probably damaging Het
Lhx5 T A 5: 120,574,509 (GRCm39) L271* probably null Het
Magel2 G A 7: 62,029,537 (GRCm39) V814M unknown Het
Manf A G 9: 106,767,461 (GRCm39) I85T possibly damaging Het
Mgmt A G 7: 136,729,794 (GRCm39) T203A probably benign Het
Mmp9 C T 2: 164,794,568 (GRCm39) S520F possibly damaging Het
Myrip A G 9: 120,270,484 (GRCm39) E578G possibly damaging Het
Naaladl2 A G 3: 23,900,757 (GRCm39) M691T probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4c112 T C 2: 88,854,294 (GRCm39) N18D probably benign Het
Or4c117 T C 2: 88,955,608 (GRCm39) I156V probably benign Het
Pcdhga12 A T 18: 37,900,118 (GRCm39) M317L possibly damaging Het
Pcnt T G 10: 76,223,359 (GRCm39) K1941T probably damaging Het
Pde4dip A T 3: 97,650,917 (GRCm39) M896K probably benign Het
Pfkfb3 A T 2: 11,487,254 (GRCm39) probably null Het
Pik3cb A G 9: 98,946,201 (GRCm39) S542P probably benign Het
Pik3cg A G 12: 32,247,257 (GRCm39) V822A probably benign Het
Plcl2 G T 17: 50,915,141 (GRCm39) G717C probably damaging Het
Ptprs C T 17: 56,730,320 (GRCm39) A1185T probably benign Het
Ptpru T A 4: 131,503,560 (GRCm39) I1157F probably damaging Het
Rbbp6 A G 7: 122,591,268 (GRCm39) T457A possibly damaging Het
Rdh16f2 A G 10: 127,712,812 (GRCm39) E270G probably damaging Het
Rrp15 C T 1: 186,453,641 (GRCm39) E269K unknown Het
Sec23b T C 2: 144,401,316 (GRCm39) V59A probably benign Het
Slc22a21 A T 11: 53,846,809 (GRCm39) probably null Het
Sp5 C A 2: 70,306,962 (GRCm39) P216T probably benign Het
Synj1 A T 16: 90,775,622 (GRCm39) D385E probably damaging Het
Trim37 C T 11: 87,097,629 (GRCm39) S808F possibly damaging Het
Tsks A T 7: 44,592,694 (GRCm39) probably benign Het
Upf1 A T 8: 70,791,087 (GRCm39) S563T possibly damaging Het
Upf2 A G 2: 5,987,893 (GRCm39) D580G unknown Het
Usp14 A G 18: 9,996,194 (GRCm39) I462T probably damaging Het
Usp48 G A 4: 137,340,996 (GRCm39) G332E probably benign Het
Vmn1r184 C G 7: 25,966,310 (GRCm39) Q19E possibly damaging Het
Vps50 C A 6: 3,516,710 (GRCm39) A64E probably benign Het
Zc3h11a T A 1: 133,566,339 (GRCm39) N211I probably damaging Het
Zfp518a A C 19: 40,901,870 (GRCm39) K600Q possibly damaging Het
Zfp729a A T 13: 67,768,061 (GRCm39) S723T probably benign Het
Zmynd12 A T 4: 119,294,286 (GRCm39) I88F 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
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 6 106,483,153 (GRCm39) missense probably benign 0.29
R6334:Cntn4 UTSW 6 106,321,747 (GRCm39) missense probably benign
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
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'- CTACTGGCATTTTATACTACAGGTGG -3'
(R):5'- ATCTCAGGCTCTATGAAACATACC -3'

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