Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02389:Cntn2'

291693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntn2

Ensembl Gene

ENSMUSG00000053024

Gene Name

contactin 2

Synonyms

axonin, Tax, TAG-1, D130012K04Rik

Accession Numbers

Ncbi RefSeq: NM_177129.5; MGI:104518

Is this an essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

IGL02389

Quality Score

Status

Chromosome

Chromosomal Location

132509427-132543256 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132525321 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 411 (E411G)

Ref Sequence

ENSEMBL: ENSMUSP00000083707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086521] [ENSMUST00000188943]

Predicted Effect

probably damaging
Transcript: ENSMUST00000086521
AA Change: E411G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024
AA Change: E411G

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

Strain: 2181052; 2677610; 3521785
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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	A	5: 63,896,483	S11N	probably null	Het
Aqp9	T	C	9: 71,122,906	I200V	possibly damaging	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dennd3	A	G	15: 73,567,056	D1091G	probably damaging	Het
Dock2	T	C	11: 34,698,740		probably benign	Het
Dscam	T	A	16: 96,640,897	I1577F	probably benign	Het
Egflam	A	T	15: 7,250,078	N482K	probably benign	Het
Fam216a	T	C	5: 122,367,511	T129A	probably damaging	Het
Fbxo40	T	C	16: 36,969,774	M325V	probably benign	Het
Fbxw8	C	T	5: 118,128,955	V148M	possibly damaging	Het
Fcgbp	C	T	7: 28,075,171	R57C	probably damaging	Het
Gnpnat1	A	G	14: 45,380,931		probably null	Het
Gria2	T	C	3: 80,709,422	T408A	probably benign	Het
H2-T3	A	G	17: 36,186,608	M59T	probably benign	Het
Jakmip1	C	T	5: 37,100,843	Q278*	probably null	Het
Krtap21-1	C	T	16: 89,403,424	G110D	unknown	Het
Myo7a	C	T	7: 98,106,991		probably null	Het
Nlrp9c	T	A	7: 26,394,207	Q11L	probably benign	Het
Olfr1442	A	T	19: 12,674,535	D110V	probably benign	Het
Olfr298	A	G	7: 86,489,128	L141P	probably damaging	Het
Olfr767	A	C	10: 129,079,230	I244M	probably damaging	Het
Olfr790	T	A	10: 129,501,070	M62K	probably benign	Het
Pdzd8	A	G	19: 59,301,393	I525T	probably benign	Het
Pign	A	T	1: 105,646,781	L280*	probably null	Het
Pik3r4	T	G	9: 105,650,331	I294M	possibly damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Prmt3	C	T	7: 49,848,758	Q471*	probably null	Het
Prrc2c	A	G	1: 162,692,870	F2006L	probably damaging	Het
Ptger3	C	T	3: 157,567,171	R52C	probably damaging	Het
Rfx2	T	C	17: 56,808,325		probably benign	Het
Sh3bp4	T	C	1: 89,145,148	F573L	probably damaging	Het
Slc18a2	G	T	19: 59,263,301		probably benign	Het
Slc26a8	T	A	17: 28,638,650	I840F	probably benign	Het
Slc5a4b	A	T	10: 76,072,465	Y364*	probably null	Het
Slitrk1	A	G	14: 108,912,322	I319T	probably benign	Het
Stxbp5l	C	T	16: 37,208,205	A499T	probably benign	Het
Tnks2	T	A	19: 36,884,103	S951R	probably benign	Het
Trim30c	A	G	7: 104,382,174	F478S	probably benign	Het
Tyro3	C	T	2: 119,804,864		probably benign	Het
Vmn1r34	A	T	6: 66,637,058	L232Q	probably damaging	Het
Zfp148	T	A	16: 33,495,446	C215S	probably damaging	Het
Zzef1	T	A	11: 72,899,538	V2106D	possibly damaging	Het
Zzef1	C	T	11: 72,891,217	P1995S	probably benign	Het

Other mutations in Cntn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Cntn2	APN	1	132521884	splice site	probably benign
IGL01137:Cntn2	APN	1	132521297	splice site	probably benign
IGL01339:Cntn2	APN	1	132518905	splice site	probably null
IGL01369:Cntn2	APN	1	132516105	missense	probably benign
IGL01572:Cntn2	APN	1	132528171	missense	probably damaging	1.00
IGL02473:Cntn2	APN	1	132518331	missense	probably benign
IGL02550:Cntn2	APN	1	132529063	missense	probably null	0.03
IGL02608:Cntn2	APN	1	132525916	missense	possibly damaging	0.87
IGL02755:Cntn2	APN	1	132529302	missense	probably benign	0.43
IGL02850:Cntn2	APN	1	132518376	missense	probably benign	0.00
IGL02887:Cntn2	APN	1	132516570	missense	probably damaging	0.96
IGL03060:Cntn2	APN	1	132528940	missense	probably benign	0.03
IGL03224:Cntn2	APN	1	132523042	missense	probably damaging	1.00
R0009:Cntn2	UTSW	1	132516180	nonsense	probably null
R0009:Cntn2	UTSW	1	132516180	nonsense	probably null
R0270:Cntn2	UTSW	1	132521724	missense	probably damaging	1.00
R0739:Cntn2	UTSW	1	132529012	missense	probably damaging	1.00
R0849:Cntn2	UTSW	1	132522386	missense	probably benign	0.09
R0903:Cntn2	UTSW	1	132533684	small deletion	probably benign
R1463:Cntn2	UTSW	1	132521137	critical splice donor site	probably null
R1512:Cntn2	UTSW	1	132523692	missense	probably damaging	0.99
R1535:Cntn2	UTSW	1	132525384	missense	probably benign	0.26
R1686:Cntn2	UTSW	1	132526311	missense	possibly damaging	0.78
R1696:Cntn2	UTSW	1	132521279	missense	probably damaging	0.96
R1708:Cntn2	UTSW	1	132519198	missense	probably damaging	0.96
R2251:Cntn2	UTSW	1	132525321	missense	probably damaging	0.99
R2315:Cntn2	UTSW	1	132522997	missense	probably benign	0.00
R2395:Cntn2	UTSW	1	132526372	missense	probably benign
R3617:Cntn2	UTSW	1	132528623	missense	probably benign	0.16
R3883:Cntn2	UTSW	1	132528939	missense	probably damaging	0.99
R3884:Cntn2	UTSW	1	132528939	missense	probably damaging	0.99
R4060:Cntn2	UTSW	1	132525896	missense	probably damaging	0.99
R4289:Cntn2	UTSW	1	132527743	missense	probably benign	0.01
R4710:Cntn2	UTSW	1	132528225	missense	possibly damaging	0.84
R4921:Cntn2	UTSW	1	132516032	missense	possibly damaging	0.49
R5121:Cntn2	UTSW	1	132517060	nonsense	probably null
R5288:Cntn2	UTSW	1	132523677	missense	probably benign	0.18
R5360:Cntn2	UTSW	1	132518857	missense	probably damaging	0.97
R5787:Cntn2	UTSW	1	132523059	missense	probably damaging	1.00
R5817:Cntn2	UTSW	1	132518748	missense	probably benign	0.21
R5930:Cntn2	UTSW	1	132523432	missense	probably damaging	1.00
R6053:Cntn2	UTSW	1	132518352	missense	probably benign	0.18
R7189:Cntn2	UTSW	1	132517086	missense	probably damaging	1.00
R7352:Cntn2	UTSW	1	132522399	missense	probably benign	0.02
R7562:Cntn2	UTSW	1	132526317	missense	possibly damaging	0.67
R7689:Cntn2	UTSW	1	132516144	missense	probably benign	0.00
R7764:Cntn2	UTSW	1	132522363	missense	probably benign	0.21
X0018:Cntn2	UTSW	1	132533684	small deletion	probably benign

Posted On

2015-04-16