Incidental Mutation 'R0739:Cntn2'
ID 70602
Institutional Source Beutler Lab
Gene Symbol Cntn2
Ensembl Gene ENSMUSG00000053024
Gene Name contactin 2
Synonyms Tax, axonin, TAG1, TAG-1, D130012K04Rik
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.291) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 132437163-132470989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132456750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 99 (I99F)
Ref Sequence ENSEMBL: ENSMUSP00000139795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086521] [ENSMUST00000186530] [ENSMUST00000188943]
AlphaFold Q61330
Predicted Effect probably damaging
Transcript: ENSMUST00000086521
AA Change: I99F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: I99F

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: ENSMUST00000186530
Predicted Effect probably damaging
Transcript: ENSMUST00000188943
AA Change: I99F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139795
Gene: ENSMUSG00000053024
AA Change: I99F

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 0.4626 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGGCTCAGGCAACTGTCTTCAAG -3'
(R):5'- AGCAACCTGTTGGCCTGCTATTCC -3'

Sequencing Primer
(F):5'- ATGCAGCGCCCCAGTTC -3'
(R):5'- CTGCTATTCCCAGAGGAGTC -3'
Posted On 2013-09-30