Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01106:Cntn2'

50278

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: 0.251) question?

Stock #

IGL01106

Quality Score

Status

Chromosome

Chromosomal Location

132437163-132470989 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 132449622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086521]

AlphaFold

Q61330

Predicted Effect

probably benign
Transcript: ENSMUST00000086521

SMART Domains

Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024

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

noncoding transcript
Transcript: ENSMUST00000188143

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg13	T	C	2: 91,526,297 (GRCm39)	D12G	probably damaging	Het
Cmya5	A	G	13: 93,221,120 (GRCm39)	L3163P	probably damaging	Het
Ddx23	C	T	15: 98,548,821 (GRCm39)	R327Q	probably benign	Het
Dlec1	G	A	9: 118,931,853 (GRCm39)	E91K	probably benign	Het
Fam13c	T	C	10: 70,284,646 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,193,626 (GRCm39)	T1398A	possibly damaging	Het
Frem1	T	C	4: 82,840,494 (GRCm39)	T1793A	probably benign	Het
Gprc5b	T	C	7: 118,583,084 (GRCm39)	K262E	probably benign	Het
Hadh	A	T	3: 131,034,619 (GRCm39)	Y226N	possibly damaging	Het
Herc1	T	A	9: 66,383,720 (GRCm39)		probably benign	Het
Ikbke	A	G	1: 131,187,792 (GRCm39)		probably benign	Het
Iqcg	T	A	16: 32,855,970 (GRCm39)	I202L	possibly damaging	Het
Kank3	G	A	17: 34,036,375 (GRCm39)	G81E	probably damaging	Het
Kcna3	A	G	3: 106,945,180 (GRCm39)	E481G	possibly damaging	Het
Kdm1a	A	G	4: 136,299,639 (GRCm39)		probably benign	Het
Klhdc8a	A	T	1: 132,232,438 (GRCm39)	S321C	probably benign	Het
Kntc1	A	G	5: 123,900,666 (GRCm39)	K255E	probably benign	Het
Lhfpl4	T	A	6: 113,170,824 (GRCm39)	T121S	probably benign	Het
Lsm11	G	A	11: 45,824,490 (GRCm39)	Q346*	probably null	Het
Mcoln3	A	G	3: 145,843,019 (GRCm39)	T368A	probably benign	Het
Nlrp4g	A	T	9: 124,350,452 (GRCm38)		noncoding transcript	Het
Nol8	A	G	13: 49,807,957 (GRCm39)	I58V	possibly damaging	Het
Or5al6	C	T	2: 85,976,560 (GRCm39)	V173M	probably benign	Het
Phactr4	A	G	4: 132,098,116 (GRCm39)	F384S	probably benign	Het
Prkg1	T	A	19: 30,562,678 (GRCm39)	I509L	probably benign	Het
Rims1	T	A	1: 22,449,671 (GRCm39)	D1019V	probably damaging	Het
Sclt1	T	C	3: 41,629,754 (GRCm39)		probably benign	Het
Sntg2	T	A	12: 30,307,987 (GRCm39)	K233*	probably null	Het
Syt5	T	C	7: 4,544,156 (GRCm39)	T295A	probably damaging	Het

Other mutations in Cntn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21