Incidental Mutation 'IGL02389:Cntn2'
ID 291693
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 # IGL02389
Quality Score
Status
Chromosome 1
Chromosomal Location 132437163-132470989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 132453059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 411 (E411G)
Ref Sequence ENSEMBL: ENSMUSP00000083707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086521] [ENSMUST00000188943]
AlphaFold Q61330
Predicted Effect probably damaging
Transcript: ENSMUST00000086521
AA Change: E411G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: E411G

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fbxw8 C T 5: 118,267,020 (GRCm39) V148M possibly damaging Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or14a257 A G 7: 86,138,336 (GRCm39) L141P probably damaging Het
Or5b94 A T 19: 12,651,899 (GRCm39) D110V probably benign Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pdzd8 A G 19: 59,289,825 (GRCm39) I525T probably benign Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Ptger3 C T 3: 157,272,808 (GRCm39) R52C probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc18a2 G T 19: 59,251,733 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Tnks2 T A 19: 36,861,503 (GRCm39) S951R probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Tyro3 C T 2: 119,635,345 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly 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
IGL02473:Cntn2 APN 1 132,446,069 (GRCm39) missense probably benign
IGL02550:Cntn2 APN 1 132,456,801 (GRCm39) missense probably null 0.03
IGL02608:Cntn2 APN 1 132,453,654 (GRCm39) missense possibly damaging 0.87
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