Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01572:Cntn2'

91151

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 #

IGL01572

Quality Score

Status

Chromosome

Chromosomal Location

132437163-132470989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 132455909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 203 (D203A)

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: D203A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: D203A

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	A	G	5: 67,824,994 (GRCm39)	V779A	probably benign	Het
Atrn	T	C	2: 130,844,715 (GRCm39)	S1199P	probably damaging	Het
BC051076	C	A	5: 88,112,549 (GRCm39)		probably benign	Het
Cdh17	T	C	4: 11,784,621 (GRCm39)		probably benign	Het
Ceacam20	T	C	7: 19,708,199 (GRCm39)	V268A	probably damaging	Het
Cped1	A	G	6: 22,051,300 (GRCm39)	N148D	probably benign	Het
Dnah10	T	A	5: 124,861,010 (GRCm39)	V2131E	probably damaging	Het
Dsn1	A	G	2: 156,841,054 (GRCm39)		probably null	Het
Eif5b	A	T	1: 38,061,335 (GRCm39)	K409*	probably null	Het
Fam237b	T	A	5: 5,625,475 (GRCm39)	I57K	probably damaging	Het
Gaa	T	C	11: 119,175,003 (GRCm39)	V868A	probably benign	Het
Igf1r	A	G	7: 67,843,189 (GRCm39)	T767A	probably benign	Het
Ints7	T	A	1: 191,347,905 (GRCm39)	V759E	possibly damaging	Het
Jarid2	A	G	13: 45,038,311 (GRCm39)	T171A	probably damaging	Het
Krt33b	T	C	11: 99,917,378 (GRCm39)	D158G	probably damaging	Het
Krt87	T	C	15: 101,334,414 (GRCm39)	R198G	probably benign	Het
Mst1r	C	A	9: 107,788,791 (GRCm39)	R437S	probably damaging	Het
Myh15	T	A	16: 48,920,585 (GRCm39)	I458K	possibly damaging	Het
Or8k37	T	C	2: 86,469,283 (GRCm39)	I256M	possibly damaging	Het
Scn9a	A	T	2: 66,324,230 (GRCm39)	N1418K	probably benign	Het
Sppl2a	A	G	2: 126,762,232 (GRCm39)		probably null	Het
Styxl2	G	T	1: 165,927,941 (GRCm39)	A557E	probably benign	Het
Zfp595	A	T	13: 67,465,465 (GRCm39)	I266K	possibly damaging	Het

Other mutations in Cntn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2013-12-09