Incidental Mutation 'R1478:Cntn6'
ID 165620
Institutional Source Beutler Lab
Gene Symbol Cntn6
Ensembl Gene ENSMUSG00000030092
Gene Name contactin 6
Synonyms NB-3
MMRRC Submission 039531-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R1478 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 104469751-104840367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 104753389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 447 (T447I)
Ref Sequence ENSEMBL: ENSMUSP00000124025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089215] [ENSMUST00000161070] [ENSMUST00000162872]
AlphaFold Q9JMB8
Predicted Effect probably benign
Transcript: ENSMUST00000089215
AA Change: T447I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: T447I

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
AA Change: T375I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: T375I

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 benign
Transcript: ENSMUST00000162872
AA Change: T447I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: T447I

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: 99.1%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.6%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,580,287 (GRCm39) I204N possibly damaging Het
Acaca A G 11: 84,263,453 (GRCm39) T2025A probably damaging Het
B4galt3 C T 1: 171,103,938 (GRCm39) R170C probably benign Het
BC028528 T C 3: 95,799,271 (GRCm39) probably null Het
Ccdc73 A T 2: 104,737,955 (GRCm39) Q17L possibly damaging Het
Ccdc73 A G 2: 104,745,012 (GRCm39) T50A possibly damaging Het
Ccdc83 T C 7: 89,908,677 (GRCm39) D19G probably damaging Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cct8l1 T C 5: 25,722,767 (GRCm39) V494A probably benign Het
Chd1 T C 17: 15,959,769 (GRCm39) F663L probably damaging Het
Chn2 A T 6: 54,270,065 (GRCm39) E319V probably damaging Het
Cnnm1 T C 19: 43,460,295 (GRCm39) V679A probably damaging Het
Cyp3a11 G T 5: 145,795,581 (GRCm39) L457I probably benign Het
Dera T A 6: 137,807,193 (GRCm39) S214T possibly damaging Het
Dmtf1 A G 5: 9,171,404 (GRCm39) V501A possibly damaging Het
Dnpep A G 1: 75,292,671 (GRCm39) V114A probably damaging Het
Dscam C T 16: 96,592,110 (GRCm39) V722M probably benign Het
Dsp A G 13: 38,365,114 (GRCm39) N499S probably damaging Het
Ecd A T 14: 20,396,725 (GRCm39) Y53* probably null Het
Esyt3 T C 9: 99,200,119 (GRCm39) T692A probably benign Het
Fat1 T A 8: 45,478,659 (GRCm39) N2545K probably damaging Het
Fndc3a A G 14: 72,795,072 (GRCm39) probably null Het
Fscn3 A G 6: 28,430,567 (GRCm39) M246V probably benign Het
Gde1 G T 7: 118,291,007 (GRCm39) T106K probably benign Het
Gjc2 A G 11: 59,068,434 (GRCm39) I16T possibly damaging Het
Hacd4 A T 4: 88,341,260 (GRCm39) M168K probably damaging Het
Hmx3 A G 7: 131,145,826 (GRCm39) E178G probably damaging Het
Htt A G 5: 34,961,171 (GRCm39) Y266C probably damaging Het
Jkampl A T 6: 73,446,039 (GRCm39) L170Q probably damaging Het
Kif27 G T 13: 58,451,359 (GRCm39) R990S probably damaging Het
Krtap22-2 A T 16: 88,807,534 (GRCm39) Y21* probably null Het
Lrrc41 T A 4: 115,952,405 (GRCm39) L661* probably null Het
Lrrc63 T C 14: 75,363,424 (GRCm39) T236A probably benign Het
Mmp13 T C 9: 7,272,892 (GRCm39) L84P probably damaging Het
Myh8 T C 11: 67,183,551 (GRCm39) I754T probably benign Het
Neb A C 2: 52,065,619 (GRCm39) D5961E probably benign Het
Nlrx1 T C 9: 44,175,374 (GRCm39) H134R probably benign Het
Npepps A T 11: 97,117,673 (GRCm39) M542K probably benign Het
Nup160 C T 2: 90,509,743 (GRCm39) probably benign Het
Or3a1c T A 11: 74,045,963 (GRCm39) probably null Het
Or8g33 T A 9: 39,337,888 (GRCm39) T160S possibly damaging Het
Pikfyve T C 1: 65,302,136 (GRCm39) probably null Het
Ppp6r1 A T 7: 4,643,377 (GRCm39) probably null Het
Prss33 A G 17: 24,054,072 (GRCm39) W45R probably damaging Het
Ptprf A T 4: 118,069,302 (GRCm39) Y980* probably null Het
Qrich1 T C 9: 108,436,531 (GRCm39) V743A probably benign Het
Rev3l G A 10: 39,659,329 (GRCm39) probably null Het
Samd9l A T 6: 3,376,369 (GRCm39) N297K probably benign Het
Sap130 A G 18: 31,813,527 (GRCm39) H528R possibly damaging Het
Slc9b2 T C 3: 135,031,863 (GRCm39) V241A probably benign Het
Snx14 A T 9: 88,276,581 (GRCm39) V577E probably benign Het
Srrm2 T C 17: 24,034,876 (GRCm39) S507P probably benign Het
Stat2 A G 10: 128,117,969 (GRCm39) probably null Het
Susd5 T C 9: 113,925,752 (GRCm39) F545S probably benign Het
Tafa2 T A 10: 123,429,401 (GRCm39) M5K possibly damaging Het
Tnnt2 A G 1: 135,775,764 (GRCm39) T107A probably benign Het
Trappc6b T A 12: 59,094,953 (GRCm39) I41F possibly damaging Het
Ttn T A 2: 76,682,417 (GRCm39) probably benign Het
Vmn1r88 A C 7: 12,911,878 (GRCm39) D78A probably damaging Het
Xpc C T 6: 91,485,510 (GRCm39) D122N possibly damaging Het
Xpo1 C T 11: 23,241,623 (GRCm39) A890V probably damaging Het
Zfp493 A G 13: 67,934,680 (GRCm39) H211R probably damaging Het
Zfp958 A T 8: 4,679,190 (GRCm39) H405L probably damaging 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
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
R5152:Cntn6 UTSW 6 104,546,074 (GRCm39) intron probably benign
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'- AGGAACATAACCACGTCTGACAAATGG -3'
(R):5'- GAAAAGTTTTGGCACCTTGGGAGTACC -3'

Sequencing Primer
(F):5'- tgtgtgtgtgtATTTAAACTGGC -3'
(R):5'- GGAGTACCCCACAGGAAGTTTATTAC -3'
Posted On 2014-03-28