Incidental Mutation 'LCD18:Cntn4'
ID 478183
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 # LCD18 (G1)
Quality Score 999
Status Validated
Chromosome 6
Chromosomal Location 105654621-106676271 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 106530901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079416] [ENSMUST00000089208] [ENSMUST00000113258] [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 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 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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132395
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 88% (169/191)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A G 8: 100,450,057 (GRCm39) noncoding transcript Het
Aff2 C A X: 68,791,141 (GRCm39) probably benign Het
Aldh1a1 C A 19: 20,604,010 (GRCm39) probably benign Het
Anxa7 C T 14: 20,519,479 (GRCm39) G113E probably damaging Het
Apba2 A T 7: 64,271,908 (GRCm39) probably benign Het
Apc2 G C 10: 80,135,808 (GRCm39) probably benign Het
App C G 16: 84,822,300 (GRCm39) probably benign Het
Asic2 C A 11: 80,876,570 (GRCm39) probably benign Het
Btk T C X: 133,479,574 (GRCm39) probably benign Het
Car12 C A 9: 66,668,958 (GRCm39) probably benign Het
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Het
Ccdc191 G A 16: 43,742,164 (GRCm39) probably benign Het
Ccdc34 N 2: 110,016,318 (GRCm38) probably benign Het
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Het
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Het
Cdv3 C A 9: 103,242,553 (GRCm39) probably benign Het
Cdv3 A T 9: 103,242,542 (GRCm39) probably benign Het
Celf2 N 2: 6,779,076 (GRCm38) probably benign Het
Cfap299 G A 5: 98,855,367 (GRCm39) probably benign Het
Clec18a C A 8: 111,802,768 (GRCm39) probably benign Het
Cnpy3 GGATGGAT GGATAGATAGATAGATAGATGGAT 17: 47,048,462 (GRCm39) probably benign Het
Cntnap5c G C 17: 58,469,155 (GRCm39) probably benign Het
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Cpne3 G T 4: 19,563,382 (GRCm39) probably benign Het
Cracd GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 5: 76,806,589 (GRCm39) probably benign Het
Dab1 T G 4: 103,903,769 (GRCm39) probably benign Het
Dapp1 G A 3: 137,645,161 (GRCm39) probably benign Het
Dcc G A 18: 72,430,518 (GRCm39) probably benign Het
Dcun1d1 GAAAAAAAAA GAAAAAAAAAA 3: 35,992,154 (GRCm39) probably benign Het
Dennd1b G A 1: 139,042,502 (GRCm39) probably benign Het
Dhdds TAA TA 4: 133,697,674 (GRCm39) probably benign Het
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Het
Dnm3 CATATATATATATATATATATATA CATATATATATATATATATATA 1: 162,234,130 (GRCm39) probably benign Het
Dock10 N 1: 80,716,623 (GRCm38) probably benign Het
Dusp10 G T 1: 183,769,253 (GRCm39) C73F probably damaging Het
Fgf20 A C 8: 40,745,359 (GRCm39) probably benign Het
Ftsj3 G T 11: 106,140,885 (GRCm39) probably benign Het
Gls T G 1: 52,222,526 (GRCm39) probably benign Het
Gm12130 T C 11: 38,397,750 (GRCm39) noncoding transcript Het
Gm14936 G A X: 111,908,447 (GRCm39) noncoding transcript Het
Gm16630 C T 6: 48,118,203 (GRCm39) noncoding transcript Het
Gm22194 AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 10: 11,816,707 (GRCm39) noncoding transcript Het
Gm26917 C G 17: 40,154,862 (GRCm39) noncoding transcript Het
Gm35048 GACACACACACACACACACACACACACACACACACACAC GACACACACACACACACACACACACACACACACACAC 1: 90,449,248 (GRCm39) noncoding transcript Het
Gm37311 G A 16: 77,415,169 (GRCm39) noncoding transcript Het
Gm37928 AACACACACACACACACACACACACACACACACA AACACACACACACACACACACACACACACACACACA 3: 118,328,206 (GRCm39) noncoding transcript Het
Gm4302 T C 10: 100,177,306 (GRCm39) W197R probably benign Het
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Het
H2-T23 T C 17: 36,342,108 (GRCm39) probably benign Het
Hgs CTTTTTTT CTTTTTT 11: 120,360,404 (GRCm39) probably benign Het
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Het
Il1rap C A 16: 26,450,343 (GRCm39) probably benign Het
Inhbc N 10: 127,367,140 (GRCm38) probably benign Het
Inpp4b C T 8: 82,419,639 (GRCm39) probably benign Het
Kars1 N 8: 111,993,708 (GRCm38) probably benign Het
Kcng4 G T 8: 120,360,258 (GRCm39) Y39* probably null Het
Kcnh7 A G 2: 62,880,143 (GRCm39) probably benign Het
Klhl1 G C 14: 96,555,166 (GRCm39) probably benign Het
Lrch1 C T 14: 75,142,461 (GRCm39) probably benign Het
Lrp1b G C 2: 42,127,574 (GRCm39) probably benign Het
Lsm8 G A 6: 18,844,315 (GRCm39) probably benign Het
Lsm8 G A 6: 18,854,320 (GRCm39) probably benign Het
Magi2 T C 5: 20,159,509 (GRCm39) probably benign Het
Matcap2 N 9: 22,442,083 (GRCm38) probably benign Het
Mef2c G A 13: 83,753,942 (GRCm39) probably benign Het
Mei4 A G 9: 82,069,012 (GRCm39) probably benign Het
Mid1 T A X: 168,788,560 (GRCm39) probably benign Het
Mndal G C 1: 173,707,784 (GRCm39) probably benign Het
Mpped2 C A 2: 106,551,773 (GRCm39) probably benign Het
Mtarc2 TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA 1: 184,554,985 (GRCm39) probably benign Het
Mtf1 A G 4: 124,723,109 (GRCm39) probably benign Het
Mxd1 T C 6: 86,644,388 (GRCm39) probably benign Het
Nbea G T 3: 55,608,948 (GRCm39) probably benign Het
Ncor1 N 11: 62,419,782 (GRCm38) probably benign Het
Nox4 A G 7: 86,892,275 (GRCm39) probably benign Het
Ocln C T 13: 100,657,075 (GRCm39) probably benign Het
Ofcc1 G A 13: 40,246,443 (GRCm39) probably benign Het
Or5af2 T A 11: 58,708,266 (GRCm39) V144D possibly damaging Het
Paics N 5: 76,956,744 (GRCm38) probably null Het
Paqr8 G T 1: 20,984,882 (GRCm39) probably benign Het
Pate9 T C 9: 36,444,849 (GRCm39) probably benign Het
Pdss1 C T 2: 22,790,980 (GRCm39) probably benign Het
Piezo1 G A 8: 123,222,308 (GRCm39) R503W probably damaging Het
Pkhd1 G A 1: 20,681,638 (GRCm39) probably benign Het
Ppp1r3f C A X: 7,426,575 (GRCm39) G562V probably damaging Het
Prr16 C T 18: 51,333,396 (GRCm39) probably benign Het
Prss38 T G 11: 59,266,467 (GRCm39) probably benign Het
Prxl2c G A 13: 64,435,099 (GRCm39) probably benign Het
Ptprk T C 10: 28,450,983 (GRCm39) probably benign Het
Pum1 N 4: 130,730,549 (GRCm38) probably benign Het
Rabgef1 N 5: 130,187,586 (GRCm38) probably null Het
Rgs16 G A 1: 153,619,976 (GRCm39) probably benign Het
Riok3 G T 18: 12,263,039 (GRCm39) probably benign Het
Rn18s-rs5 T C 17: 40,159,446 (GRCm39) noncoding transcript Het
Robo2 N 16: 74,055,954 (GRCm38) probably benign Het
Rps6ka3 A G X: 158,062,211 (GRCm39) probably benign Het
Rptn T A 3: 93,304,848 (GRCm39) L727Q probably benign Het
Slc25a46 C A 18: 31,730,366 (GRCm39) probably benign Het
Spata31f1e T C 4: 42,792,885 (GRCm39) T416A probably benign Het
Spsb1 C T 4: 150,036,943 (GRCm39) probably benign Het
Tbc1d19 A C 5: 53,974,051 (GRCm39) probably benign Het
Trav7-4 C T 14: 53,698,975 (GRCm39) L41F probably benign Het
Trip12 N 1: 84,754,482 (GRCm38) probably benign Het
Ttc13 G A 8: 125,402,605 (GRCm39) probably benign Het
Ttll6 C T 11: 96,046,084 (GRCm39) probably benign Het
Unc5b C G 10: 60,621,950 (GRCm39) probably benign Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Het
Vps13b G T 15: 35,847,103 (GRCm39) A2629S probably damaging Het
Wars2 N 3: 99,214,774 (GRCm38) probably null Het
Zdhhc3 AACACACACACACACACACACACACACACACAC AACACACACACACACACACACACACACACACACAC 9: 122,912,087 (GRCm39) probably benign Het
Zfp26 C A 9: 20,349,842 (GRCm39) A241S probably benign Het
Zfp442 C T 2: 150,261,768 (GRCm39) probably benign Het
Zfp808 C T 13: 62,314,465 (GRCm39) 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
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
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'- ACACTATGCTAGTATAGAGAGTACCC -3'
(R):5'- CTAGCATAGTGTACTCTCTATACTAGC -3'

Sequencing Primer
(F):5'- CCCTATGCTAGTATAGAGAGTGCAC -3'
(R):5'- CTAGCATAGTGCACTCTCTA -3'
Posted On 2017-05-26