Incidental Mutation 'R8910:Cntn4'
ID 678551
Institutional Source Beutler Lab
Gene Symbol Cntn4
Ensembl Gene ENSMUSG00000064293
Gene Name contactin 4
Synonyms BIG-2A, Axcam
MMRRC Submission 068701-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.318) question?
Stock # R8910 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 105654621-106676271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106632497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 507 (M507T)
Ref Sequence ENSEMBL: ENSMUSP00000108886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [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
AA Change: M507T

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000078385
Gene: ENSMUSG00000064293
AA Change: M507T

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: M507T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293
AA Change: M507T

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
AA Change: M507T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293
AA Change: M507T

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: M507T

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293
AA Change: M507T

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: M507T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293
AA Change: M507T

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
Meta Mutation Damage Score 0.0976 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,768 (GRCm39) I1058V probably benign Het
Abca5 T C 11: 110,189,030 (GRCm39) E809G probably damaging Het
Akap12 A T 10: 4,263,822 (GRCm39) Q77L probably benign Het
Aldh5a1 A G 13: 25,102,599 (GRCm39) V288A probably damaging Het
Alox5 C A 6: 116,389,510 (GRCm39) E586* probably null Het
Anxa2r1 T A 13: 120,508,356 (GRCm39) probably benign Het
Arid5b A G 10: 67,934,108 (GRCm39) F598S Het
Btc A C 5: 91,508,671 (GRCm39) M157R probably benign Het
Cadps2 T C 6: 23,344,223 (GRCm39) N908S probably benign Het
Cd244a C A 1: 171,386,941 (GRCm39) H17N probably damaging Het
Cdh15 T C 8: 123,575,240 (GRCm39) L5P probably benign Het
Cep15 A G 14: 12,285,444 (GRCm38) H10R probably benign Het
Cept1 A C 3: 106,446,565 (GRCm39) S94A probably benign Het
Cpne4 A G 9: 104,799,706 (GRCm39) probably benign Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dlgap1 C T 17: 71,093,815 (GRCm39) T712I probably damaging Het
Dnhd1 A C 7: 105,332,904 (GRCm39) H155P possibly damaging Het
Dpyd A G 3: 118,404,167 (GRCm39) K38R probably benign Het
Evx1 C T 6: 52,293,746 (GRCm39) R305C probably damaging Het
Ezr A G 17: 7,023,299 (GRCm39) L47P probably damaging Het
Fabp6 C T 11: 43,492,335 (GRCm39) A2T possibly damaging Het
Fam78a G A 2: 31,959,681 (GRCm39) T143M probably damaging Het
Fam83h C T 15: 75,874,844 (GRCm39) G831D probably benign Het
Fermt2 G A 14: 45,702,389 (GRCm39) A465V probably damaging Het
Fras1 T C 5: 96,715,855 (GRCm39) S358P probably benign Het
Frem1 C A 4: 82,868,694 (GRCm39) G1429V probably benign Het
Fst T A 13: 114,590,245 (GRCm39) probably benign Het
Gfpt1 T C 6: 87,030,787 (GRCm39) I57T probably benign Het
Gimap6 A G 6: 48,679,388 (GRCm39) I216T probably damaging Het
Gm10267 T A 18: 44,289,511 (GRCm39) N73I possibly damaging Het
H2-M2 G A 17: 37,792,413 (GRCm39) T286I probably damaging Het
Hgs T C 11: 120,369,202 (GRCm39) probably null Het
Klra6 T C 6: 129,993,647 (GRCm39) E208G probably benign Het
L3mbtl1 A T 2: 162,812,213 (GRCm39) T753S probably benign Het
Larp6 A G 9: 60,620,526 (GRCm39) E13G probably benign Het
Mroh2b A G 15: 4,960,855 (GRCm39) I806V probably benign Het
Myo1g T C 11: 6,468,009 (GRCm39) N142S possibly damaging Het
Myo3a A G 2: 22,464,280 (GRCm39) T1112A probably benign Het
Or4b1b C A 2: 90,126,848 (GRCm39) R119L possibly damaging Het
Pelp1 A T 11: 70,287,461 (GRCm39) M449K probably damaging Het
Ppp4r1 T C 17: 66,144,768 (GRCm39) V795A probably damaging Het
Ppp4r3b G T 11: 29,146,290 (GRCm39) M372I probably null Het
Ptprk T C 10: 28,368,993 (GRCm39) V655A possibly damaging Het
Rad51d T C 11: 82,773,793 (GRCm39) R166G probably damaging Het
Rbm19 T A 5: 120,271,844 (GRCm39) Y650N probably damaging Het
Rreb1 A G 13: 38,132,741 (GRCm39) K204E Het
Ryr1 A G 7: 28,771,340 (GRCm39) L2567P probably damaging Het
Scn3a T A 2: 65,338,883 (GRCm39) S599C probably damaging Het
Slc7a15 T A 12: 8,589,117 (GRCm39) probably benign Het
Taf6 T C 5: 138,182,716 (GRCm39) T12A probably benign Het
Tbc1d10b T C 7: 126,806,938 (GRCm39) T200A probably benign Het
Tex21 C T 12: 76,263,533 (GRCm39) probably benign Het
Thap4 T C 1: 93,642,666 (GRCm39) H515R probably damaging Het
Tmem94 A G 11: 115,688,252 (GRCm39) Q1237R probably damaging Het
Tppp3 A G 8: 106,194,924 (GRCm39) V69A probably benign Het
Unc5a A G 13: 55,151,401 (GRCm39) E695G possibly damaging Het
Wtip G A 7: 33,832,063 (GRCm39) P141L possibly damaging Het
Wwp1 A T 4: 19,627,741 (GRCm39) M718K possibly damaging Het
Zbtb25 A C 12: 76,395,908 (GRCm39) V438G probably damaging Het
Zfp444 T C 7: 6,187,026 (GRCm39) L46P probably damaging Het
Zfp521 T C 18: 13,977,233 (GRCm39) H1060R probably benign Het
Zkscan14 A G 5: 145,132,190 (GRCm39) F447S 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 6 106,321,747 (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
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'- GGTTCTACACTGCCACATAAAG -3'
(R):5'- GGGTCACTTTACAGAACCTTTG -3'

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