Incidental Mutation 'R5152:Cntn6'
ID 395441
Institutional Source Beutler Lab
Gene Symbol Cntn6
Ensembl Gene ENSMUSG00000030092
Gene Name contactin 6
Synonyms NB-3
MMRRC Submission 042734-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R5152 (G1)
Quality Score 192
Status Validated
Chromosome 6
Chromosomal Location 104469751-104840367 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 104546074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089215] [ENSMUST00000161070] [ENSMUST00000161446] [ENSMUST00000162872]
AlphaFold Q9JMB8
Predicted Effect probably benign
Transcript: ENSMUST00000089215
SMART Domains Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 41 107 5.24e-7 SMART
IG 129 217 2.28e-7 SMART
IGc2 240 304 4e-12 SMART
IGc2 330 393 4.52e-11 SMART
IGc2 422 486 5.48e-10 SMART
IGc2 512 584 1.44e-4 SMART
FN3 598 684 2.17e-11 SMART
FN3 701 787 8.62e0 SMART
FN3 803 888 9.92e-6 SMART
FN3 903 983 8.17e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161070
SMART Domains Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092

DomainStartEndE-ValueType
SCOP:d1cs6a4 4 40 5e-4 SMART
IG 57 145 2.28e-7 SMART
IGc2 168 232 4e-12 SMART
IGc2 258 321 4.52e-11 SMART
IGc2 350 414 5.48e-10 SMART
IGc2 440 512 1.44e-4 SMART
FN3 526 612 2.17e-11 SMART
FN3 629 715 8.62e0 SMART
FN3 731 816 9.92e-6 SMART
FN3 831 911 8.17e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161413
Predicted Effect probably benign
Transcript: ENSMUST00000161446
Predicted Effect probably benign
Transcript: ENSMUST00000162872
SMART Domains Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGc2 41 107 5.24e-7 SMART
IG 129 217 2.28e-7 SMART
IGc2 240 304 4e-12 SMART
IGc2 330 393 4.52e-11 SMART
IGc2 422 486 5.48e-10 SMART
IGc2 512 584 1.44e-4 SMART
FN3 598 684 2.17e-11 SMART
FN3 701 787 8.62e0 SMART
FN3 803 888 9.92e-6 SMART
FN3 903 983 8.17e0 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 99% (83/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for disruption of this gene display impaired coordination without any obvious morphological of physiological abnormalities in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,139,846 (GRCm39) S1503P probably benign Het
Actn3 C A 19: 4,913,572 (GRCm39) V620F probably damaging Het
Adamtsl3 A G 7: 82,223,752 (GRCm39) K252E probably benign Het
Adgrg1 A G 8: 95,736,373 (GRCm39) Y509C probably damaging Het
Arhgef2 G A 3: 88,536,875 (GRCm39) probably null Het
Bod1l T C 5: 41,973,886 (GRCm39) E2476G probably benign Het
Capn3 T C 2: 120,331,811 (GRCm39) probably benign Het
Catsperz T C 19: 6,900,705 (GRCm39) T147A probably benign Het
Cc2d1b C A 4: 108,483,283 (GRCm39) A289E probably benign Het
Ccdc170 A C 10: 4,511,107 (GRCm39) H722P probably damaging Het
Cdk13 C A 13: 17,893,110 (GRCm39) A1358S probably benign Het
Coch A G 12: 51,642,225 (GRCm39) N66D probably benign Het
Col12a1 A G 9: 79,564,030 (GRCm39) S1732P probably damaging Het
Copa T A 1: 171,945,628 (GRCm39) V917E probably benign Het
Csmd2 C A 4: 128,445,828 (GRCm39) N3299K probably benign Het
Cyp2c67 A T 19: 39,627,132 (GRCm39) F233I probably benign Het
D630039A03Rik T A 4: 57,910,434 (GRCm39) H126L probably damaging Het
Ddx46 T C 13: 55,806,843 (GRCm39) L492P probably damaging Het
Dpysl3 C T 18: 43,571,145 (GRCm39) G43D probably benign Het
Enpp5 C T 17: 44,392,024 (GRCm39) P151L probably damaging Het
Exoc3l4 T C 12: 111,397,327 (GRCm39) probably benign Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Flg2 C A 3: 93,122,284 (GRCm39) P1485T unknown Het
Fmo5 A G 3: 97,549,078 (GRCm39) Y242C probably benign Het
Fsip2 C A 2: 82,808,916 (GRCm39) T1745N probably benign Het
Gata4 T A 14: 63,478,570 (GRCm39) N10Y probably damaging Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Gm4787 A C 12: 81,425,451 (GRCm39) S236A probably benign Het
Golga7 A C 8: 23,735,965 (GRCm39) S94A probably benign Het
Gpbp1 A G 13: 111,589,815 (GRCm39) probably benign Het
Grm1 A G 10: 10,955,619 (GRCm39) Y222H probably benign Het
Gstcd A G 3: 132,790,717 (GRCm39) Y17H possibly damaging Het
Hephl1 C A 9: 14,991,481 (GRCm39) D586Y probably damaging Het
Hpn C A 7: 30,799,261 (GRCm39) V35L probably damaging Het
Il23r T A 6: 67,400,725 (GRCm39) N535I probably damaging Het
Inpp4a T C 1: 37,397,616 (GRCm39) I45T possibly damaging Het
Itgae G C 11: 73,021,821 (GRCm39) G901R probably damaging Het
Kif28 T C 1: 179,530,103 (GRCm39) D686G probably damaging Het
Kit A G 5: 75,781,507 (GRCm39) E312G probably benign Het
Lamb2 C A 9: 108,364,937 (GRCm39) S1230R probably benign Het
Lars1 A T 18: 42,361,842 (GRCm39) D588E possibly damaging Het
Lgr4 T A 2: 109,830,948 (GRCm39) F292I probably damaging Het
Lmf1 C T 17: 25,874,493 (GRCm39) S458L probably damaging Het
Lpin2 T A 17: 71,552,154 (GRCm39) C787S probably damaging Het
Ms4a4a A C 19: 11,365,676 (GRCm39) I138L probably benign Het
Mterf1a A T 5: 3,940,984 (GRCm39) F295I probably damaging Het
Muc4 A T 16: 32,577,432 (GRCm39) K241* probably null Het
Muc5b T C 7: 141,419,268 (GRCm39) F4017S possibly damaging Het
Nfkbil1 T C 17: 35,440,384 (GRCm39) probably benign Het
Or10d5j T C 9: 39,868,202 (GRCm39) T22A probably benign Het
Or4x6 A G 2: 89,949,465 (GRCm39) L159P probably damaging Het
Or8g21 A T 9: 38,906,473 (GRCm39) V86E possibly damaging Het
Osgep T C 14: 51,155,315 (GRCm39) D81G probably damaging Het
Otos A G 1: 92,572,116 (GRCm39) F70S probably damaging Het
Pcdhb2 T A 18: 37,429,179 (GRCm39) V384D probably damaging Het
Ppp1r10 C T 17: 36,240,144 (GRCm39) P514S probably damaging Het
Pramel14 G A 4: 143,720,830 (GRCm39) P37L probably damaging Het
Prdm16 A G 4: 154,430,559 (GRCm39) Y309H probably damaging Het
Rap1gds1 A T 3: 138,661,962 (GRCm39) D382E probably damaging Het
Reln A G 5: 22,153,627 (GRCm39) F2226L probably damaging Het
Rmi2 C T 16: 10,657,765 (GRCm39) T125M probably damaging Het
Setd1a C T 7: 127,383,197 (GRCm39) T231I probably benign Het
Sftpa1 G A 14: 40,856,309 (GRCm39) G218D probably damaging Het
Shcbp1 A T 8: 4,786,138 (GRCm39) F655I probably damaging Het
Slc5a7 T C 17: 54,585,861 (GRCm39) I319V possibly damaging Het
Sp140l2 G A 1: 85,239,581 (GRCm39) P19S probably benign Het
Spata31d1c C T 13: 65,183,409 (GRCm39) T317I probably damaging Het
Speg C T 1: 75,404,742 (GRCm39) P2845S possibly damaging Het
Synpo2 A G 3: 123,029,550 (GRCm39) probably null Het
Tdpoz9 T C 3: 93,957,451 (GRCm39) probably benign Het
Tdrd7 T A 4: 46,013,191 (GRCm39) S644T probably damaging Het
Tmem182 T A 1: 40,877,460 (GRCm39) Y112N probably damaging Het
Usp45 T A 4: 21,824,815 (GRCm39) N522K probably benign Het
Vnn3 A T 10: 23,740,237 (GRCm39) Y180F probably benign Het
Wnk1 C T 6: 119,979,241 (GRCm39) R282Q possibly damaging Het
Xrn1 A T 9: 95,846,118 (GRCm39) D57V probably benign Het
Zfp831 T C 2: 174,486,357 (GRCm39) V344A probably benign Het
Other mutations in Cntn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Cntn6 APN 6 104,627,361 (GRCm39) missense probably damaging 0.99
IGL01331:Cntn6 APN 6 104,751,484 (GRCm39) missense probably damaging 1.00
IGL01619:Cntn6 APN 6 104,705,335 (GRCm39) splice site probably benign
IGL02028:Cntn6 APN 6 104,836,387 (GRCm39) missense probably damaging 0.99
IGL02420:Cntn6 APN 6 104,823,103 (GRCm39) critical splice donor site probably null
IGL02557:Cntn6 APN 6 104,751,496 (GRCm39) missense probably damaging 1.00
IGL03000:Cntn6 APN 6 104,781,347 (GRCm39) missense probably damaging 1.00
IGL03367:Cntn6 APN 6 104,781,299 (GRCm39) missense probably damaging 1.00
IGL03383:Cntn6 APN 6 104,753,418 (GRCm39) splice site probably benign
PIT4366001:Cntn6 UTSW 6 104,809,498 (GRCm39) missense probably benign 0.05
R0490:Cntn6 UTSW 6 104,810,879 (GRCm39) missense possibly damaging 0.91
R0583:Cntn6 UTSW 6 104,753,275 (GRCm39) missense possibly damaging 0.79
R0636:Cntn6 UTSW 6 104,840,109 (GRCm39) missense probably benign 0.00
R0654:Cntn6 UTSW 6 104,753,389 (GRCm39) missense probably benign 0.00
R0960:Cntn6 UTSW 6 104,751,441 (GRCm39) missense probably benign 0.01
R1241:Cntn6 UTSW 6 104,809,470 (GRCm39) missense probably damaging 1.00
R1385:Cntn6 UTSW 6 104,838,861 (GRCm39) missense probably benign 0.07
R1401:Cntn6 UTSW 6 104,781,359 (GRCm39) missense possibly damaging 0.65
R1478:Cntn6 UTSW 6 104,753,389 (GRCm39) missense probably benign 0.00
R1542:Cntn6 UTSW 6 104,825,061 (GRCm39) missense probably damaging 1.00
R1593:Cntn6 UTSW 6 104,809,541 (GRCm39) missense possibly damaging 0.58
R1840:Cntn6 UTSW 6 104,751,441 (GRCm39) missense probably damaging 1.00
R2066:Cntn6 UTSW 6 104,838,783 (GRCm39) nonsense probably null
R2097:Cntn6 UTSW 6 104,838,910 (GRCm39) missense probably damaging 0.99
R2289:Cntn6 UTSW 6 104,545,989 (GRCm39) start gained probably benign
R2429:Cntn6 UTSW 6 104,627,526 (GRCm39) missense possibly damaging 0.96
R2967:Cntn6 UTSW 6 104,703,198 (GRCm39) missense probably benign 0.04
R4009:Cntn6 UTSW 6 104,810,783 (GRCm39) missense probably damaging 0.98
R4476:Cntn6 UTSW 6 104,749,522 (GRCm39) missense probably damaging 1.00
R4664:Cntn6 UTSW 6 104,705,245 (GRCm39) missense probably benign 0.20
R4666:Cntn6 UTSW 6 104,705,245 (GRCm39) missense probably benign 0.20
R4701:Cntn6 UTSW 6 104,781,321 (GRCm39) missense probably benign 0.01
R4780:Cntn6 UTSW 6 104,822,745 (GRCm39) missense probably damaging 1.00
R4854:Cntn6 UTSW 6 104,836,436 (GRCm39) missense possibly damaging 0.95
R4965:Cntn6 UTSW 6 104,751,435 (GRCm39) missense probably damaging 0.99
R5051:Cntn6 UTSW 6 104,749,558 (GRCm39) missense probably damaging 1.00
R5075:Cntn6 UTSW 6 104,809,991 (GRCm39) missense probably damaging 1.00
R5291:Cntn6 UTSW 6 104,703,096 (GRCm39) missense probably damaging 1.00
R5388:Cntn6 UTSW 6 104,809,523 (GRCm39) missense probably damaging 1.00
R5852:Cntn6 UTSW 6 104,812,706 (GRCm39) missense probably damaging 0.97
R5937:Cntn6 UTSW 6 104,810,064 (GRCm39) missense possibly damaging 0.68
R5980:Cntn6 UTSW 6 104,825,093 (GRCm39) missense probably damaging 0.98
R6290:Cntn6 UTSW 6 104,744,851 (GRCm39) missense probably damaging 1.00
R6338:Cntn6 UTSW 6 104,703,100 (GRCm39) missense probably damaging 1.00
R6396:Cntn6 UTSW 6 104,627,461 (GRCm39) missense probably damaging 1.00
R6447:Cntn6 UTSW 6 104,836,409 (GRCm39) missense probably damaging 1.00
R6860:Cntn6 UTSW 6 104,838,907 (GRCm39) missense possibly damaging 0.95
R6871:Cntn6 UTSW 6 104,822,719 (GRCm39) frame shift probably null
R7012:Cntn6 UTSW 6 104,751,441 (GRCm39) missense probably benign 0.01
R7012:Cntn6 UTSW 6 104,703,223 (GRCm39) missense probably damaging 0.98
R7337:Cntn6 UTSW 6 104,627,491 (GRCm39) missense probably damaging 0.99
R7658:Cntn6 UTSW 6 104,627,444 (GRCm39) missense probably benign 0.29
R8133:Cntn6 UTSW 6 104,705,298 (GRCm39) missense probably benign 0.19
R8463:Cntn6 UTSW 6 104,749,580 (GRCm39) missense possibly damaging 0.64
R8909:Cntn6 UTSW 6 104,825,093 (GRCm39) missense probably benign 0.05
R9232:Cntn6 UTSW 6 104,815,781 (GRCm39) missense probably damaging 1.00
R9287:Cntn6 UTSW 6 104,809,471 (GRCm39) missense possibly damaging 0.89
R9454:Cntn6 UTSW 6 104,781,308 (GRCm39) missense possibly damaging 0.82
R9698:Cntn6 UTSW 6 104,810,044 (GRCm39) nonsense probably null
X0020:Cntn6 UTSW 6 104,744,845 (GRCm39) missense probably benign 0.00
Z1177:Cntn6 UTSW 6 104,809,545 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGGCTGATATGTGAGAAAC -3'
(R):5'- AAACATGTCTGACCTTCCCTTTTGG -3'

Sequencing Primer
(F):5'- GAAACTGAGTAGTCATTTATGTGGC -3'
(R):5'- CCCTTTTGGTTATTGATGGAAAGAAG -3'
Posted On 2016-06-21