Incidental Mutation 'R7337:Cntn6'
ID 569574
Institutional Source Beutler Lab
Gene Symbol Cntn6
Ensembl Gene ENSMUSG00000030092
Gene Name contactin 6
Synonyms NB-3
MMRRC Submission 045427-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R7337 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 104492790-104863406 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104650530 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 108 (T108I)
Ref Sequence ENSEMBL: ENSMUSP00000086623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089215] [ENSMUST00000161070] [ENSMUST00000162872]
AlphaFold Q9JMB8
Predicted Effect probably damaging
Transcript: ENSMUST00000089215
AA Change: T108I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: T108I

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 damaging
Transcript: ENSMUST00000161070
AA Change: T36I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: T36I

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 probably damaging
Transcript: ENSMUST00000162872
AA Change: T108I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: T108I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (88/88)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik A G 14: 49,234,491 (GRCm38) M163T possibly damaging Het
Abcb11 A T 2: 69,245,769 (GRCm38) H1198Q probably damaging Het
Adamts14 A G 10: 61,207,460 (GRCm38) V743A probably damaging Het
Adgrg6 A G 10: 14,467,351 (GRCm38) V284A possibly damaging Het
AI314180 T C 4: 58,827,047 (GRCm38) T1029A possibly damaging Het
Alb A G 5: 90,474,593 (GRCm38) K560R probably damaging Het
Aqp9 A T 9: 71,162,482 (GRCm38) F8L probably benign Het
Arhgef7 T C 8: 11,785,789 (GRCm38) L182P probably damaging Het
Atr A G 9: 95,871,448 (GRCm38) D701G probably damaging Het
Calr3 C T 8: 72,431,495 (GRCm38) D187N probably damaging Het
Ccdc65 A G 15: 98,721,096 (GRCm38) T319A probably benign Het
Ccdc66 A T 14: 27,500,333 (GRCm38) L151H probably damaging Het
Ces2e T A 8: 104,931,056 (GRCm38) probably null Het
Cfap46 A G 7: 139,630,576 (GRCm38) probably null Het
Cfap74 A G 4: 155,460,015 (GRCm38) T1034A unknown Het
Cldnd1 T G 16: 58,728,959 (GRCm38) probably null Het
Clec4f C A 6: 83,653,208 (GRCm38) V123L probably benign Het
Crygn T G 5: 24,756,149 (GRCm38) D53A possibly damaging Het
Cyp27a1 T A 1: 74,735,435 (GRCm38) V204E probably damaging Het
Cyp2c67 A T 19: 39,609,264 (GRCm38) probably null Het
Ddb1 T C 19: 10,627,831 (GRCm38) V1061A possibly damaging Het
Dnah12 G T 14: 26,766,577 (GRCm38) probably null Het
Draxin T C 4: 148,112,759 (GRCm38) T194A probably benign Het
Drosha T A 15: 12,846,199 (GRCm38) D473E possibly damaging Het
G6pd2 T A 5: 61,810,219 (GRCm38) C446S probably benign Het
Gm29106 C T 1: 118,176,912 (GRCm38) S3L unknown Het
Grin3a T C 4: 49,702,762 (GRCm38) Y908C probably damaging Het
Ints2 G A 11: 86,217,842 (GRCm38) A893V probably benign Het
Ippk C T 13: 49,449,291 (GRCm38) T371I probably benign Het
Irf2 T A 8: 46,807,281 (GRCm38) C83S probably damaging Het
Jph3 C T 8: 121,753,702 (GRCm38) A373V probably benign Het
Kcnj6 C T 16: 94,833,214 (GRCm38) V13I probably benign Het
Lama3 T C 18: 12,507,040 (GRCm38) probably null Het
Lmo7 A T 14: 101,884,204 (GRCm38) Q235L probably damaging Het
March7 A G 2: 60,240,845 (GRCm38) probably null Het
Mfsd6l A T 11: 68,557,283 (GRCm38) Y320F possibly damaging Het
Mroh1 T A 15: 76,451,476 (GRCm38) W1440R probably benign Het
Mrps17 G A 5: 129,716,799 (GRCm38) G19D probably damaging Het
Myt1 A G 2: 181,802,963 (GRCm38) H566R possibly damaging Het
Nav2 T C 7: 49,551,773 (GRCm38) L176P possibly damaging Het
Nop58 T A 1: 59,698,440 (GRCm38) C139S probably benign Het
Nsd1 A G 13: 55,246,209 (GRCm38) D644G probably damaging Het
Nsd2 T A 5: 33,885,472 (GRCm38) C1027S probably damaging Het
Nsmce2 A G 15: 59,601,416 (GRCm38) I235V probably damaging Het
Nyap2 T C 1: 81,336,515 (GRCm38) V642A possibly damaging Het
Olfr300-ps1 A T 7: 86,443,120 (GRCm38) L46F unknown Het
Olfr919 A G 9: 38,697,865 (GRCm38) V167A probably benign Het
Paqr7 A G 4: 134,507,120 (GRCm38) D96G probably benign Het
Parp4 A G 14: 56,602,395 (GRCm38) Y520C probably damaging Het
Pde5a A G 3: 122,748,458 (GRCm38) N199S probably damaging Het
Piezo1 A T 8: 122,485,724 (GRCm38) Y1955N Het
Pnmal1 A G 7: 16,961,390 (GRCm38) K390R probably benign Het
Prdm10 G T 9: 31,316,241 (GRCm38) Q47H probably damaging Het
Psg22 T A 7: 18,719,574 (GRCm38) F104I probably benign Het
Ptprf T C 4: 118,211,125 (GRCm38) E1738G probably damaging Het
Rad21l A T 2: 151,658,445 (GRCm38) L218Q probably damaging Het
Rad54l2 A G 9: 106,705,825 (GRCm38) I798T probably damaging Het
Rgs5 G T 1: 169,655,580 (GRCm38) M1I probably null Het
Rhbdl2 T C 4: 123,817,866 (GRCm38) V132A possibly damaging Het
Rmi1 T A 13: 58,409,579 (GRCm38) Y547* probably null Het
Rptn A T 3: 93,396,905 (GRCm38) D515V probably benign Het
Rsph10b A G 5: 143,961,215 (GRCm38) N505D probably benign Het
Samhd1 T C 2: 157,106,244 (GRCm38) D539G probably damaging Het
Scube3 A T 17: 28,168,182 (GRCm38) I885F probably damaging Het
Sfmbt1 A G 14: 30,784,739 (GRCm38) I247V possibly damaging Het
Slc25a21 T C 12: 56,858,043 (GRCm38) I62V probably benign Het
Slc4a11 T A 2: 130,685,532 (GRCm38) N648Y probably damaging Het
Slc7a11 A G 3: 50,442,999 (GRCm38) V88A possibly damaging Het
Slc7a8 A C 14: 54,726,806 (GRCm38) F397V possibly damaging Het
Sox12 A C 2: 152,397,457 (GRCm38) L81R probably damaging Het
Spg11 T C 2: 122,084,993 (GRCm38) I1057V probably benign Het
St8sia3 G A 18: 64,269,916 (GRCm38) V265I probably benign Het
Stxbp5 A G 10: 9,809,130 (GRCm38) S509P possibly damaging Het
Svep1 T C 4: 58,108,323 (GRCm38) Y1129C probably damaging Het
Tenm4 G T 7: 96,874,126 (GRCm38) R1625L probably benign Het
Tlr4 T C 4: 66,839,954 (GRCm38) F328S possibly damaging Het
Tmprss15 T C 16: 79,071,276 (GRCm38) T215A probably benign Het
Tmprss9 A T 10: 80,882,670 (GRCm38) I62L probably benign Het
Trpm5 C T 7: 143,089,019 (GRCm38) A64T probably benign Het
Txk A C 5: 72,731,766 (GRCm38) Y148* probably null Het
Uba5 C T 9: 104,055,255 (GRCm38) G170R possibly damaging Het
Uggt2 A T 14: 119,086,175 (GRCm38) D231E probably benign Het
Ulk4 A T 9: 121,248,927 (GRCm38) D525E probably benign Het
Vmn1r158 T A 7: 22,790,224 (GRCm38) T187S probably benign Het
Vmn1r52 T A 6: 90,179,623 (GRCm38) M303K probably benign Het
Vmn2r54 A G 7: 12,622,117 (GRCm38) F454S probably benign Het
Zbp1 A T 2: 173,218,753 (GRCm38) L8* probably null Het
Zmym2 A T 14: 56,944,100 (GRCm38) D924V probably benign Het
Other mutations in Cntn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Cntn6 APN 6 104,650,400 (GRCm38) missense probably damaging 0.99
IGL01331:Cntn6 APN 6 104,774,523 (GRCm38) missense probably damaging 1.00
IGL01619:Cntn6 APN 6 104,728,374 (GRCm38) splice site probably benign
IGL02028:Cntn6 APN 6 104,859,426 (GRCm38) missense probably damaging 0.99
IGL02420:Cntn6 APN 6 104,846,142 (GRCm38) critical splice donor site probably null
IGL02557:Cntn6 APN 6 104,774,535 (GRCm38) missense probably damaging 1.00
IGL03000:Cntn6 APN 6 104,804,386 (GRCm38) missense probably damaging 1.00
IGL03367:Cntn6 APN 6 104,804,338 (GRCm38) missense probably damaging 1.00
IGL03383:Cntn6 APN 6 104,776,457 (GRCm38) splice site probably benign
PIT4366001:Cntn6 UTSW 6 104,832,537 (GRCm38) missense probably benign 0.05
R0490:Cntn6 UTSW 6 104,833,918 (GRCm38) missense possibly damaging 0.91
R0583:Cntn6 UTSW 6 104,776,314 (GRCm38) missense possibly damaging 0.79
R0636:Cntn6 UTSW 6 104,863,148 (GRCm38) missense probably benign 0.00
R0654:Cntn6 UTSW 6 104,776,428 (GRCm38) missense probably benign 0.00
R0960:Cntn6 UTSW 6 104,774,480 (GRCm38) missense probably benign 0.01
R1241:Cntn6 UTSW 6 104,832,509 (GRCm38) missense probably damaging 1.00
R1385:Cntn6 UTSW 6 104,861,900 (GRCm38) missense probably benign 0.07
R1401:Cntn6 UTSW 6 104,804,398 (GRCm38) missense possibly damaging 0.65
R1478:Cntn6 UTSW 6 104,776,428 (GRCm38) missense probably benign 0.00
R1542:Cntn6 UTSW 6 104,848,100 (GRCm38) missense probably damaging 1.00
R1593:Cntn6 UTSW 6 104,832,580 (GRCm38) missense possibly damaging 0.58
R1840:Cntn6 UTSW 6 104,774,480 (GRCm38) missense probably damaging 1.00
R2066:Cntn6 UTSW 6 104,861,822 (GRCm38) nonsense probably null
R2097:Cntn6 UTSW 6 104,861,949 (GRCm38) missense probably damaging 0.99
R2289:Cntn6 UTSW 6 104,569,028 (GRCm38) start gained probably benign
R2429:Cntn6 UTSW 6 104,650,565 (GRCm38) missense possibly damaging 0.96
R2967:Cntn6 UTSW 6 104,726,237 (GRCm38) missense probably benign 0.04
R4009:Cntn6 UTSW 6 104,833,822 (GRCm38) missense probably damaging 0.98
R4476:Cntn6 UTSW 6 104,772,561 (GRCm38) missense probably damaging 1.00
R4664:Cntn6 UTSW 6 104,728,284 (GRCm38) missense probably benign 0.20
R4666:Cntn6 UTSW 6 104,728,284 (GRCm38) missense probably benign 0.20
R4701:Cntn6 UTSW 6 104,804,360 (GRCm38) missense probably benign 0.01
R4780:Cntn6 UTSW 6 104,845,784 (GRCm38) missense probably damaging 1.00
R4854:Cntn6 UTSW 6 104,859,475 (GRCm38) missense possibly damaging 0.95
R4965:Cntn6 UTSW 6 104,774,474 (GRCm38) missense probably damaging 0.99
R5051:Cntn6 UTSW 6 104,772,597 (GRCm38) missense probably damaging 1.00
R5075:Cntn6 UTSW 6 104,833,030 (GRCm38) missense probably damaging 1.00
R5152:Cntn6 UTSW 6 104,569,113 (GRCm38) intron probably benign
R5291:Cntn6 UTSW 6 104,726,135 (GRCm38) missense probably damaging 1.00
R5388:Cntn6 UTSW 6 104,832,562 (GRCm38) missense probably damaging 1.00
R5852:Cntn6 UTSW 6 104,835,745 (GRCm38) missense probably damaging 0.97
R5937:Cntn6 UTSW 6 104,833,103 (GRCm38) missense possibly damaging 0.68
R5980:Cntn6 UTSW 6 104,848,132 (GRCm38) missense probably damaging 0.98
R6290:Cntn6 UTSW 6 104,767,890 (GRCm38) missense probably damaging 1.00
R6338:Cntn6 UTSW 6 104,726,139 (GRCm38) missense probably damaging 1.00
R6396:Cntn6 UTSW 6 104,650,500 (GRCm38) missense probably damaging 1.00
R6447:Cntn6 UTSW 6 104,859,448 (GRCm38) missense probably damaging 1.00
R6860:Cntn6 UTSW 6 104,861,946 (GRCm38) missense possibly damaging 0.95
R6871:Cntn6 UTSW 6 104,845,758 (GRCm38) frame shift probably null
R7012:Cntn6 UTSW 6 104,774,480 (GRCm38) missense probably benign 0.01
R7012:Cntn6 UTSW 6 104,726,262 (GRCm38) missense probably damaging 0.98
R7658:Cntn6 UTSW 6 104,650,483 (GRCm38) missense probably benign 0.29
R8133:Cntn6 UTSW 6 104,728,337 (GRCm38) missense probably benign 0.19
R8463:Cntn6 UTSW 6 104,772,619 (GRCm38) missense possibly damaging 0.64
R8909:Cntn6 UTSW 6 104,848,132 (GRCm38) missense probably benign 0.05
R9232:Cntn6 UTSW 6 104,838,820 (GRCm38) missense probably damaging 1.00
R9287:Cntn6 UTSW 6 104,832,510 (GRCm38) missense possibly damaging 0.89
R9454:Cntn6 UTSW 6 104,804,347 (GRCm38) missense possibly damaging 0.82
R9698:Cntn6 UTSW 6 104,833,083 (GRCm38) nonsense probably null
X0020:Cntn6 UTSW 6 104,767,884 (GRCm38) missense probably benign 0.00
Z1177:Cntn6 UTSW 6 104,832,584 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATCATCCCACAGGTAATCATG -3'
(R):5'- GAGATTGTTCCAAGATTCCTTCAC -3'

Sequencing Primer
(F):5'- GACTTCGGCATGACTTATC -3'
(R):5'- GATTTCTATTATCCTCAGGAACACAG -3'
Posted On 2019-09-13