Incidental Mutation 'R1686:Cntn2'
ID 189304
Institutional Source Beutler Lab
Gene Symbol Cntn2
Ensembl Gene ENSMUSG00000053024
Gene Name contactin 2
Synonyms Tax, axonin, TAG1, TAG-1, D130012K04Rik
MMRRC Submission 039719-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R1686 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 132437163-132470989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132454049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 319 (V319D)
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: V319D

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: V319D

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (85/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G A 10: 100,448,722 (GRCm39) V400I probably damaging Het
Abcb1b A G 5: 8,848,782 (GRCm39) N14S probably damaging Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrg3 A G 8: 95,759,997 (GRCm39) N72S probably benign Het
Akain1 T A 17: 69,746,527 (GRCm39) F3I possibly damaging Het
Akr1c21 T C 13: 4,627,452 (GRCm39) L182P probably damaging Het
Arhgap21 A T 2: 20,886,659 (GRCm39) Y12N probably damaging Het
Aup1 A T 6: 83,032,226 (GRCm39) H131L probably damaging Het
Bag6 A G 17: 35,363,928 (GRCm39) T812A possibly damaging Het
Bmp2k A G 5: 97,211,392 (GRCm39) Y520C unknown Het
Calm4 T G 13: 3,888,302 (GRCm39) V136G probably damaging Het
Catsper2 A G 2: 121,230,523 (GRCm39) probably null Het
Cc2d2a A G 5: 43,896,713 (GRCm39) T1537A possibly damaging Het
Cux1 G A 5: 136,304,235 (GRCm39) R1314* probably null Het
Cxcl12 A G 6: 117,150,508 (GRCm39) I79V probably damaging Het
Cyp2j6 T C 4: 96,412,014 (GRCm39) D418G probably benign Het
Ddx28 G C 8: 106,737,190 (GRCm39) D289E probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a A C 1: 24,068,887 (GRCm39) S448A probably benign Het
Fbxo33 G T 12: 59,251,626 (GRCm39) N30K possibly damaging Het
Fgf12 A C 16: 28,217,093 (GRCm39) Y21D probably damaging Het
Galntl5 C T 5: 25,415,432 (GRCm39) S288L probably benign Het
Gart G T 16: 91,422,237 (GRCm39) A760D probably damaging Het
Gba2 A T 4: 43,573,869 (GRCm39) probably benign Het
Gm10518 C A 1: 179,631,357 (GRCm39) S139* probably null Het
Gm4781 A T 10: 100,232,837 (GRCm39) noncoding transcript Het
Gm9790 A G 3: 85,823,156 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,893,075 (GRCm39) G127R probably damaging Het
Golim4 A T 3: 75,802,443 (GRCm39) V283E probably benign Het
Gprc5a A T 6: 135,055,918 (GRCm39) I122F possibly damaging Het
Gzmc T C 14: 56,471,341 (GRCm39) K67E probably benign Het
Hapln3 C A 7: 78,771,638 (GRCm39) V84L probably benign Het
Hif3a T A 7: 16,778,789 (GRCm39) N377Y possibly damaging Het
Ifi211 G A 1: 173,726,969 (GRCm39) H392Y probably damaging Het
Iqgap3 T A 3: 88,015,663 (GRCm39) probably benign Het
Itga10 T A 3: 96,559,141 (GRCm39) F410Y probably damaging Het
Jup T C 11: 100,263,260 (GRCm39) Y705C probably damaging Het
Khsrp C T 17: 57,332,597 (GRCm39) A228T probably benign Het
Lmntd2 C T 7: 140,790,998 (GRCm39) G445D probably damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Magel2 T A 7: 62,027,988 (GRCm39) H297Q possibly damaging Het
Mbd6 T C 10: 127,123,286 (GRCm39) E33G probably damaging Het
Mob3b A G 4: 34,985,910 (GRCm39) probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mymk A T 2: 26,952,346 (GRCm39) W174R probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nipal3 T C 4: 135,174,599 (GRCm39) Y384C possibly damaging Het
Nt5c3b A G 11: 100,330,920 (GRCm39) probably benign Het
Obox6 T A 7: 15,567,750 (GRCm39) L232F probably damaging Het
Obscn A C 11: 58,997,113 (GRCm39) probably benign Het
Or7g12 T C 9: 18,899,839 (GRCm39) L185P probably damaging Het
Phkb A G 8: 86,748,278 (GRCm39) I706V probably benign Het
Plcb2 A G 2: 118,546,168 (GRCm39) probably benign Het
Plek2 T C 12: 78,941,184 (GRCm39) D216G probably damaging Het
Plxnb2 T C 15: 89,046,665 (GRCm39) Y855C probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Psma7 A T 2: 179,679,215 (GRCm39) D184E probably benign Het
Rai14 T A 15: 10,592,282 (GRCm39) L204F probably damaging Het
Ralgapa2 A G 2: 146,199,920 (GRCm39) V1208A probably benign Het
Rapgef6 A G 11: 54,582,458 (GRCm39) R67G possibly damaging Het
Ryr2 C T 13: 11,618,665 (GRCm39) probably benign Het
Satb1 T C 17: 52,047,027 (GRCm39) S763G probably benign Het
Sdk1 A T 5: 142,020,292 (GRCm39) H690L probably benign Het
Sfrp5 A C 19: 42,190,143 (GRCm39) V103G possibly damaging Het
Six6 A G 12: 72,988,451 (GRCm39) E208G probably benign Het
Sspo A T 6: 48,437,334 (GRCm39) H1364L probably benign Het
Stard9 A T 2: 120,529,973 (GRCm39) T2077S probably benign Het
Tacr3 T C 3: 134,535,254 (GRCm39) L74P probably damaging Het
Tep1 T C 14: 51,074,245 (GRCm39) E1880G probably benign Het
Tgfb3 A T 12: 86,116,517 (GRCm39) probably benign Het
Thap7 G A 16: 17,346,576 (GRCm39) P136S probably damaging Het
Thoc2l T A 5: 104,667,789 (GRCm39) Y770* probably null Het
Tmc2 T C 2: 130,098,036 (GRCm39) V717A possibly damaging Het
Usp43 T A 11: 67,778,593 (GRCm39) S446C probably damaging Het
Vwa3a C T 7: 120,379,371 (GRCm39) S492L probably damaging Het
Wdhd1 T A 14: 47,493,672 (GRCm39) N16I probably damaging Het
Wdr95 A T 5: 149,516,566 (GRCm39) D327V probably damaging Het
Zfp128 T G 7: 12,624,563 (GRCm39) Y310* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTGCCAGGGACTGATTTAGCAAC -3'
(R):5'- AGAAACATGCTCAGCTCAGCTCATC -3'

Sequencing Primer
(F):5'- AAATACTTGTGTGCTTTCTGTATGCC -3'
(R):5'- AGCTCATCCCCTCTGGC -3'
Posted On 2014-05-14