Incidental Mutation 'R0583:Cntn6'
ID 56503
Institutional Source Beutler Lab
Gene Symbol Cntn6
Ensembl Gene ENSMUSG00000030092
Gene Name contactin 6
Synonyms NB-3
MMRRC Submission 038773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R0583 (G1)
Quality Score 120
Status Not validated
Chromosome 6
Chromosomal Location 104469751-104840367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104753275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 337 (D337G)
Ref Sequence ENSEMBL: ENSMUSP00000124714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089215] [ENSMUST00000161070] [ENSMUST00000162872]
AlphaFold Q9JMB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000089215
AA Change: D409G

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000086623
Gene: ENSMUSG00000030092
AA Change: D409G

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 possibly damaging
Transcript: ENSMUST00000161070
AA Change: D337G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124714
Gene: ENSMUSG00000030092
AA Change: D337G

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 possibly damaging
Transcript: ENSMUST00000162872
AA Change: D409G

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124025
Gene: ENSMUSG00000030092
AA Change: D409G

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 93.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,926 (GRCm39) S483P probably benign Het
5730480H06Rik A G 5: 48,537,470 (GRCm39) H169R probably damaging Het
Actn1 T A 12: 80,245,803 (GRCm39) I127F probably damaging Het
Cadm3 T G 1: 173,168,738 (GRCm39) T277P probably benign Het
Cast T C 13: 74,861,797 (GRCm39) T629A probably damaging Het
Cblc C A 7: 19,526,486 (GRCm39) C201F probably benign Het
Ccdc154 T A 17: 25,387,398 (GRCm39) D375E possibly damaging Het
Cdk6 A G 5: 3,523,183 (GRCm39) D201G probably damaging Het
Cep95 T C 11: 106,705,449 (GRCm39) V478A probably benign Het
Ciita T C 16: 10,341,668 (GRCm39) probably null Het
Clec4e A G 6: 123,260,653 (GRCm39) F135S probably damaging Het
Crlf3 A T 11: 79,950,107 (GRCm39) H174Q probably damaging Het
Cyb5r1 T A 1: 134,335,339 (GRCm39) F93I probably damaging Het
Dop1b T C 16: 93,552,374 (GRCm39) I271T probably benign Het
Duxf1 G A 10: 58,059,210 (GRCm39) L515F probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fhad1 C T 4: 141,631,301 (GRCm39) M1297I probably benign Het
Igdcc4 T C 9: 65,029,095 (GRCm39) V244A possibly damaging Het
Ikzf5 A G 7: 130,993,514 (GRCm39) probably null Het
Ilvbl T A 10: 78,419,101 (GRCm39) V450E probably damaging Het
Kcns3 T G 12: 11,141,479 (GRCm39) N407H probably damaging Het
Klhl11 T C 11: 100,355,150 (GRCm39) K224E possibly damaging Het
Klra17 T A 6: 129,845,656 (GRCm39) D186V probably damaging Het
Lrrc37a T C 11: 103,389,263 (GRCm39) D2054G probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mrgbp A G 2: 180,226,239 (GRCm39) N104S probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Muc5ac C A 7: 141,361,345 (GRCm39) T1552N probably damaging Het
Muc5b T A 7: 141,410,435 (GRCm39) Y1269* probably null Het
Myef2 T C 2: 124,939,901 (GRCm39) probably null Het
Myg1 C T 15: 102,246,225 (GRCm39) Q367* probably null Het
Nalcn T C 14: 123,531,755 (GRCm39) N1365S possibly damaging Het
Nfu1 T C 6: 86,986,934 (GRCm39) C18R probably benign Het
Nkx2-6 A T 14: 69,412,228 (GRCm39) Q132L probably damaging Het
Or10a3b C T 7: 108,444,621 (GRCm39) A199T possibly damaging Het
Or8k38 T A 2: 86,488,704 (GRCm39) I33F probably benign Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prh1 A T 6: 132,548,796 (GRCm39) Q101L unknown Het
Ribc2 A T 15: 85,017,115 (GRCm39) probably null Het
Rnf19a C A 15: 36,253,151 (GRCm39) R396L probably damaging Het
Sdad1 A G 5: 92,452,923 (GRCm39) I105T probably damaging Het
Sec24b G T 3: 129,834,960 (GRCm39) Y79* probably null Het
Tatdn2 A G 6: 113,679,486 (GRCm39) E277G possibly damaging Het
Tex10 A C 4: 48,451,952 (GRCm39) F725V probably damaging Het
Themis3 T C 17: 66,866,748 (GRCm39) D164G probably benign Het
Ubxn7 T C 16: 32,194,732 (GRCm39) W220R probably damaging Het
Usp33 C A 3: 152,073,891 (GRCm39) R246S probably damaging Het
Vmn2r102 T A 17: 19,897,043 (GRCm39) V130E probably benign Het
Vmn2r112 C T 17: 22,837,930 (GRCm39) P797L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Yme1l1 T C 2: 23,076,262 (GRCm39) V340A probably damaging Het
Zfta A G 19: 7,397,639 (GRCm39) D62G 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
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
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'- AAGTTTTGGCACCTTGGGAGTACC -3'

Sequencing Primer
(F):5'- CTGTAGACGACACATATCATTTCC -3'
(R):5'- GGAGTACCCCACAGGAAGTTTATTAC -3'
Posted On 2013-07-11