Incidental Mutation 'IGL02608:Cntn2'
ID 300375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cntn2
Ensembl Gene ENSMUSG00000053024
Gene Name contactin 2
Synonyms Tax, axonin, TAG1, TAG-1, D130012K04Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # IGL02608
Quality Score
Status
Chromosome 1
Chromosomal Location 132437163-132470989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132453654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 340 (A340T)
Ref Sequence ENSEMBL: ENSMUSP00000083707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086521] [ENSMUST00000188943]
AlphaFold Q61330
Predicted Effect possibly damaging
Transcript: ENSMUST00000086521
AA Change: A340T

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: A340T

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IGc2 54 120 8.78e-9 SMART
IG 142 232 3.89e-1 SMART
IGc2 254 315 2.14e-21 SMART
IGc2 341 404 4.59e-12 SMART
IGc2 433 497 7.52e-8 SMART
IGc2 523 596 2.72e-5 SMART
FN3 610 696 2.72e-12 SMART
FN3 713 799 1.02e-2 SMART
FN3 815 899 5.27e-10 SMART
FN3 915 995 8.91e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186487
Predicted Effect probably benign
Transcript: ENSMUST00000188065
Predicted Effect probably benign
Transcript: ENSMUST00000188943
SMART Domains Protein: ENSMUSP00000139795
Gene: ENSMUSG00000053024

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
PDB:2OM5|A 36 103 9e-37 PDB
SCOP:d1cs6a1 36 103 2e-11 SMART
Blast:IGc2 54 103 1e-30 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190601
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. Mice lacking a functional copy of this gene exhibit epileptic seizures and elevated expression of A1 adenosine receptors. [provided by RefSeq, Sep 2016]
PHENOTYPE: Targeted mutation of this locus results in molecular abnormalities in the central nervous system. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted(5)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Nol4l A G 2: 153,278,213 (GRCm39) S8P possibly damaging Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging Het
Other mutations in Cntn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01106:Cntn2 APN 1 132,449,622 (GRCm39) splice site probably benign
IGL01137:Cntn2 APN 1 132,449,035 (GRCm39) splice site probably benign
IGL01339:Cntn2 APN 1 132,446,643 (GRCm39) splice site probably null
IGL01369:Cntn2 APN 1 132,443,843 (GRCm39) missense probably benign
IGL01572:Cntn2 APN 1 132,455,909 (GRCm39) missense probably damaging 1.00
IGL02389:Cntn2 APN 1 132,453,059 (GRCm39) missense probably damaging 0.99
IGL02473:Cntn2 APN 1 132,446,069 (GRCm39) missense probably benign
IGL02550:Cntn2 APN 1 132,456,801 (GRCm39) missense probably null 0.03
IGL02755:Cntn2 APN 1 132,457,040 (GRCm39) missense probably benign 0.43
IGL02850:Cntn2 APN 1 132,446,114 (GRCm39) missense probably benign 0.00
IGL02887:Cntn2 APN 1 132,444,308 (GRCm39) missense probably damaging 0.96
IGL03060:Cntn2 APN 1 132,456,678 (GRCm39) missense probably benign 0.03
IGL03224:Cntn2 APN 1 132,450,780 (GRCm39) missense probably damaging 1.00
R0009:Cntn2 UTSW 1 132,443,918 (GRCm39) nonsense probably null
R0009:Cntn2 UTSW 1 132,443,918 (GRCm39) nonsense probably null
R0270:Cntn2 UTSW 1 132,449,462 (GRCm39) missense probably damaging 1.00
R0739:Cntn2 UTSW 1 132,456,750 (GRCm39) missense probably damaging 1.00
R0849:Cntn2 UTSW 1 132,450,124 (GRCm39) missense probably benign 0.09
R0903:Cntn2 UTSW 1 132,461,422 (GRCm39) small deletion probably benign
R1463:Cntn2 UTSW 1 132,448,875 (GRCm39) critical splice donor site probably null
R1512:Cntn2 UTSW 1 132,451,430 (GRCm39) missense probably damaging 0.99
R1535:Cntn2 UTSW 1 132,453,122 (GRCm39) missense probably benign 0.26
R1686:Cntn2 UTSW 1 132,454,049 (GRCm39) missense possibly damaging 0.78
R1696:Cntn2 UTSW 1 132,449,017 (GRCm39) missense probably damaging 0.96
R1708:Cntn2 UTSW 1 132,446,936 (GRCm39) missense probably damaging 0.96
R2251:Cntn2 UTSW 1 132,453,059 (GRCm39) missense probably damaging 0.99
R2315:Cntn2 UTSW 1 132,450,735 (GRCm39) missense probably benign 0.00
R2395:Cntn2 UTSW 1 132,454,110 (GRCm39) missense probably benign
R3617:Cntn2 UTSW 1 132,456,361 (GRCm39) missense probably benign 0.16
R3883:Cntn2 UTSW 1 132,456,677 (GRCm39) missense probably damaging 0.99
R3884:Cntn2 UTSW 1 132,456,677 (GRCm39) missense probably damaging 0.99
R4060:Cntn2 UTSW 1 132,453,634 (GRCm39) missense probably damaging 0.99
R4289:Cntn2 UTSW 1 132,455,481 (GRCm39) missense probably benign 0.01
R4710:Cntn2 UTSW 1 132,455,963 (GRCm39) missense possibly damaging 0.84
R4921:Cntn2 UTSW 1 132,443,770 (GRCm39) missense possibly damaging 0.49
R5121:Cntn2 UTSW 1 132,444,798 (GRCm39) nonsense probably null
R5288:Cntn2 UTSW 1 132,451,415 (GRCm39) missense probably benign 0.18
R5360:Cntn2 UTSW 1 132,446,595 (GRCm39) missense probably damaging 0.97
R5787:Cntn2 UTSW 1 132,450,797 (GRCm39) missense probably damaging 1.00
R5817:Cntn2 UTSW 1 132,446,486 (GRCm39) missense probably benign 0.21
R5930:Cntn2 UTSW 1 132,451,170 (GRCm39) missense probably damaging 1.00
R6053:Cntn2 UTSW 1 132,446,090 (GRCm39) missense probably benign 0.18
R7189:Cntn2 UTSW 1 132,444,824 (GRCm39) missense probably damaging 1.00
R7352:Cntn2 UTSW 1 132,450,137 (GRCm39) missense probably benign 0.02
R7562:Cntn2 UTSW 1 132,454,055 (GRCm39) missense possibly damaging 0.67
R7689:Cntn2 UTSW 1 132,443,882 (GRCm39) missense probably benign 0.00
R7764:Cntn2 UTSW 1 132,450,101 (GRCm39) missense probably benign 0.21
R8080:Cntn2 UTSW 1 132,449,536 (GRCm39) missense probably damaging 1.00
R8344:Cntn2 UTSW 1 132,449,512 (GRCm39) missense probably damaging 1.00
R8683:Cntn2 UTSW 1 132,450,731 (GRCm39) missense probably damaging 1.00
R9087:Cntn2 UTSW 1 132,453,108 (GRCm39) missense probably damaging 1.00
R9188:Cntn2 UTSW 1 132,443,276 (GRCm39) missense probably damaging 1.00
R9267:Cntn2 UTSW 1 132,449,021 (GRCm39) missense probably benign 0.02
R9329:Cntn2 UTSW 1 132,456,678 (GRCm39) missense probably benign 0.03
R9385:Cntn2 UTSW 1 132,455,912 (GRCm39) missense probably damaging 1.00
X0018:Cntn2 UTSW 1 132,461,422 (GRCm39) small deletion probably benign
Z1176:Cntn2 UTSW 1 132,455,526 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16