Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02887:Cntn2'

363821

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 #

IGL02887

Quality Score

Status

Chromosome

Chromosomal Location

132437163-132470989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132444308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 935 (D935V)

Ref Sequence

ENSEMBL: ENSMUSP00000083707 (fasta)

Gene Model

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

AlphaFold

Q61330

Predicted Effect

probably damaging
Transcript: ENSMUST00000086521
AA Change: D935V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: D935V

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

unknown
Transcript: ENSMUST00000188065
AA Change: D438V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188143

Predicted Effect

probably benign
Transcript: ENSMUST00000189528

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,166,168 (GRCm39)	Y69H	probably damaging	Het
Afap1l2	A	T	19: 56,908,995 (GRCm39)	S310R	probably damaging	Het
Aldh7a1	A	G	18: 56,675,288 (GRCm39)		probably benign	Het
Anxa8	T	A	14: 33,818,481 (GRCm39)		probably null	Het
Ap1ar	T	C	3: 127,602,192 (GRCm39)	E282G	probably damaging	Het
Arl6ip6	T	G	2: 53,092,939 (GRCm39)	S155A	probably benign	Het
Armc9	T	C	1: 86,092,557 (GRCm39)	F107S	probably damaging	Het
Ash1l	C	A	3: 88,891,488 (GRCm39)	D1122E	probably benign	Het
Atp2b4	T	A	1: 133,656,512 (GRCm39)	I713F	probably damaging	Het
BC005624	A	C	2: 30,863,317 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,169,586 (GRCm39)	D365G	probably benign	Het
Ccdc110	A	G	8: 46,396,221 (GRCm39)	N704S	probably benign	Het
Ccr10	G	T	11: 101,065,492 (GRCm39)	L13I	probably benign	Het
Cfap52	A	G	11: 67,844,341 (GRCm39)	Y125H	probably damaging	Het
Cnr2	C	A	4: 135,644,936 (GRCm39)	T338K	possibly damaging	Het
Cog7	T	C	7: 121,543,067 (GRCm39)	K448R	possibly damaging	Het
Csnk1g2	G	A	10: 80,474,369 (GRCm39)	D197N	probably damaging	Het
Cyp2e1	T	A	7: 140,343,824 (GRCm39)	S21T	probably damaging	Het
Dcaf11	T	C	14: 55,801,592 (GRCm39)	F187L	probably damaging	Het
Dmd	T	A	X: 82,922,110 (GRCm39)	F1460Y	probably benign	Het
Dnah11	G	A	12: 117,874,775 (GRCm39)	A4030V	probably damaging	Het
Dnah7a	A	G	1: 53,561,519 (GRCm39)	V2046A	possibly damaging	Het
Dnajc6	T	C	4: 101,496,497 (GRCm39)	I820T	probably damaging	Het
Dsel	T	C	1: 111,788,462 (GRCm39)	D691G	possibly damaging	Het
Fbp1	T	A	13: 63,016,894 (GRCm39)	M203L	probably benign	Het
Fndc1	T	C	17: 7,992,470 (GRCm39)	T409A	unknown	Het
Golgb1	T	G	16: 36,746,211 (GRCm39)	L2930R	probably damaging	Het
Htr2a	A	G	14: 74,882,583 (GRCm39)	T190A	probably benign	Het
Klra4	C	T	6: 130,021,033 (GRCm39)	C254Y	probably damaging	Het
Large1	A	T	8: 73,858,667 (GRCm39)	V67E	probably benign	Het
Lins1	T	C	7: 66,363,931 (GRCm39)	S609P	probably damaging	Het
Magi3	T	C	3: 104,002,473 (GRCm39)	E156G	probably damaging	Het
Mdh1b	A	G	1: 63,754,523 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,037 (GRCm39)	D276G	probably benign	Het
Myh9	T	A	15: 77,680,220 (GRCm39)	K185*	probably null	Het
Myof	T	C	19: 37,909,227 (GRCm39)		probably null	Het
Naip2	T	G	13: 100,298,020 (GRCm39)	Y672S	possibly damaging	Het
Nbeal1	A	G	1: 60,326,603 (GRCm39)		probably benign	Het
Nbeal2	T	A	9: 110,457,344 (GRCm39)	H2273L	probably damaging	Het
Neb	T	C	2: 52,090,733 (GRCm39)	K1346E	possibly damaging	Het
Nfatc2	T	C	2: 168,346,370 (GRCm39)	D908G	probably damaging	Het
Nlgn2	T	C	11: 69,718,080 (GRCm39)	N375S	probably benign	Het
Nova1	G	T	12: 46,767,505 (GRCm39)	Q139K	unknown	Het
Opa3	A	T	7: 18,962,507 (GRCm39)	Q47L	probably damaging	Het
Or10g7	T	A	9: 39,905,109 (GRCm39)	M1K	probably null	Het
Or2t47	A	G	11: 58,442,987 (GRCm39)	L26P	probably damaging	Het
Or6c205	T	A	10: 129,086,794 (GRCm39)	Y130*	probably null	Het
Pacs1	A	T	19: 5,185,138 (GRCm39)		probably benign	Het
Pappa2	T	A	1: 158,609,829 (GRCm39)	H1544L	probably damaging	Het
Pax8	A	G	2: 24,334,627 (GRCm39)	S48P	probably damaging	Het
Pdilt	T	C	7: 119,097,272 (GRCm39)	N70S	possibly damaging	Het
Poldip3	T	C	15: 83,013,469 (GRCm39)		probably benign	Het
Ppp6r1	T	A	7: 4,645,211 (GRCm39)	I80F	probably damaging	Het
Pycr2	T	A	1: 180,732,304 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 78,976,187 (GRCm39)		probably benign	Het
Rbm44	T	A	1: 91,080,902 (GRCm39)	D363E	probably damaging	Het
Rnf213	A	T	11: 119,318,336 (GRCm39)	I1046F	probably damaging	Het
Ryr2	A	G	13: 11,606,155 (GRCm39)	S4476P	probably damaging	Het
Scara5	G	A	14: 66,000,278 (GRCm39)	D483N	unknown	Het
Scmh1	T	A	4: 120,325,586 (GRCm39)	F101Y	probably damaging	Het
Sgo2a	T	A	1: 58,055,511 (GRCm39)	V565E	probably damaging	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Skint6	T	A	4: 113,095,381 (GRCm39)	R93*	probably null	Het
Skint7	T	C	4: 111,839,375 (GRCm39)	V223A	possibly damaging	Het
Slc25a2	T	C	18: 37,770,939 (GRCm39)	I197V	probably benign	Het
Slit2	A	G	5: 48,374,816 (GRCm39)	T361A	probably benign	Het
Sugp1	G	A	8: 70,522,776 (GRCm39)	G492D	probably damaging	Het
Svep1	C	T	4: 58,145,301 (GRCm39)	G388D	probably damaging	Het
Tbpl2	G	T	2: 23,983,888 (GRCm39)	A183E	probably damaging	Het
Tcerg1l	G	T	7: 137,831,619 (GRCm39)	P453T	probably damaging	Het
Tdpoz2	T	C	3: 93,559,046 (GRCm39)	T309A	probably benign	Het
Thbs4	T	A	13: 92,927,306 (GRCm39)	Y61F	probably benign	Het
Tmem117	C	A	15: 94,992,656 (GRCm39)	P439T	probably damaging	Het
Tmem151a	A	G	19: 5,132,993 (GRCm39)	V71A	probably benign	Het
Tmem268	G	T	4: 63,486,691 (GRCm39)		probably benign	Het
Tmem43	T	A	6: 91,454,356 (GRCm39)	Y48N	possibly damaging	Het
Tmigd1	T	C	11: 76,804,812 (GRCm39)	V217A	probably benign	Het
Tmprss11g	A	T	5: 86,645,188 (GRCm39)		probably benign	Het
Tsn	T	C	1: 118,237,551 (GRCm39)	I38V	probably benign	Het
Ttc41	A	T	10: 86,569,518 (GRCm39)	Y632F	probably damaging	Het
Vmn2r117	C	T	17: 23,694,552 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,238,351 (GRCm39)	I463N	probably benign	Het
Wdsub1	T	A	2: 59,683,176 (GRCm39)	N466I	probably damaging	Het
Zdhhc21	A	T	4: 82,762,427 (GRCm39)	I56N	probably benign	Het
Zfand4	A	G	6: 116,250,617 (GRCm39)	T16A	possibly damaging	Het
Zmym4	T	C	4: 126,842,268 (GRCm39)	E15G	probably 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
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
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

2015-12-18