Mutagenetix > Incidental Mutation

Incidental Mutation 'R1757:Cntnap2'

194957

Institutional Source

Beutler Lab

Gene Symbol

Cntnap2

Ensembl Gene

ENSMUSG00000039419

Gene Name

contactin associated protein-like 2

Synonyms

5430425M22Rik, Caspr2

MMRRC Submission

039789-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1757 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45059357-47304213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46759829 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 730 (C730S)

Ref Sequence

ENSEMBL: ENSMUSP00000110288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114641]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000114641
AA Change: C730S

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

SMART Domains

Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419
AA Change: C730S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
FA58C	34	181	3.99e-22	SMART
LamG	208	345	5.5e-34	SMART
LamG	393	529	3.31e-28	SMART
EGF	557	591	5.04e-2	SMART
Blast:FBG	594	777	7e-68	BLAST
LamG	819	945	5.58e-35	SMART
EGF	966	1002	2.11e1	SMART
LamG	1048	1188	3.55e-28	SMART
low complexity region	1263	1273	N/A	INTRINSIC
4.1m	1283	1301	4.21e-7	SMART

Meta Mutation Damage Score

0.8716

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

100% (111/111)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]
PHENOTYPE: Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,049,867	I219F	probably damaging	Het
Acvr1b	A	G	15: 101,198,822	I207V	possibly damaging	Het
Adamtsl4	T	C	3: 95,677,942	T839A	probably benign	Het
Akap1	C	T	11: 88,845,752	R61H	probably damaging	Het
Akap9	A	G	5: 4,001,667	D1478G	probably benign	Het
Aloxe3	T	A	11: 69,135,949	V547E	possibly damaging	Het
Ano6	G	A	15: 95,962,267	A757T	probably damaging	Het
Armc10	A	G	5: 21,653,457	T167A	probably damaging	Het
BB019430	A	C	10: 58,704,047		noncoding transcript	Het
Brms1	C	T	19: 5,046,407	R82W	probably damaging	Het
Btnl6	G	A	17: 34,514,088	T267I	probably benign	Het
Catsper4	A	T	4: 134,217,901	F215L	probably benign	Het
Ccdc105	T	C	10: 78,747,224	N442S	probably benign	Het
Ccdc188	T	C	16: 18,218,688	F197S	probably damaging	Het
Cers5	A	C	15: 99,736,331	C379G	probably benign	Het
Chchd6	A	G	6: 89,384,644	L259P	probably damaging	Het
Coch	T	G	12: 51,602,848	V314G	probably damaging	Het
Cog1	T	A	11: 113,652,304	S213T	possibly damaging	Het
Crot	A	T	5: 8,987,828	F163I	probably damaging	Het
Cyp4f13	A	T	17: 32,929,958	I162N	probably damaging	Het
Dab2	A	T	15: 6,330,452		probably benign	Het
Depdc1b	C	T	13: 108,323,948	R31W	probably damaging	Het
Dlk1	T	C	12: 109,459,687	F161S	probably damaging	Het
Dnah6	T	C	6: 73,160,982	E913G	probably damaging	Het
Dnajc6	A	G	4: 101,597,831	Y5C	probably damaging	Het
Dock10	T	C	1: 80,533,869	T1508A	probably damaging	Het
Dstyk	A	G	1: 132,434,094		probably benign	Het
Efcc1	T	C	6: 87,749,283		probably benign	Het
Entpd1	T	C	19: 40,739,006	Y533H	probably benign	Het
Epha8	A	T	4: 136,931,478		probably null	Het
Erich3	C	T	3: 154,695,765	T17M	probably damaging	Het
Ethe1	T	C	7: 24,608,474		probably benign	Het
Fbxw15	A	T	9: 109,557,279	M211K	probably damaging	Het
Fhod3	G	A	18: 25,066,278	V669M	possibly damaging	Het
Fktn	C	T	4: 53,747,003		probably benign	Het
Foxred1	G	A	9: 35,210,834	R20C	probably benign	Het
Gbp9	A	G	5: 105,094,453	L140P	probably damaging	Het
Gga1	T	C	15: 78,889,030	L286P	probably damaging	Het
Gm11397	T	C	13: 33,399,353	S150P	probably benign	Het
Gml	T	C	15: 74,813,613		probably benign	Het
Gsap	A	T	5: 21,281,037	K628N	probably damaging	Het
Gtf3c4	G	A	2: 28,830,636		probably benign	Het
H2-M10.6	A	C	17: 36,813,151	Y169S	probably benign	Het
Hal	G	A	10: 93,494,628	V245I	probably benign	Het
Hebp2	T	C	10: 18,545,101	Y72C	probably damaging	Het
Helz2	T	C	2: 181,236,263	E914G	probably damaging	Het
Herc3	T	C	6: 58,916,470	Y906H	probably damaging	Het
Hfm1	A	T	5: 106,880,360		probably null	Het
Hgs	C	T	11: 120,480,063	P582S	probably damaging	Het
Hoxa10	G	A	6: 52,234,489	P149L	probably damaging	Het
Inpp5j	T	A	11: 3,504,738	Q4L	possibly damaging	Het
Ints8	A	C	4: 11,254,109	M1R	probably null	Het
Isg15	T	C	4: 156,199,990	E27G	possibly damaging	Het
Klf13	A	T	7: 63,891,765	C205S	probably damaging	Het
Lama1	G	A	17: 67,697,383	V17M	unknown	Het
Lama1	A	T	17: 67,763,836	Y830F	probably benign	Het
Lama3	A	G	18: 12,465,499	N988D	probably benign	Het
Lcat	CAT	C	8: 105,941,814		probably null	Het
Lct	G	T	1: 128,301,257	P833H	probably damaging	Het
Lmf1	A	T	17: 25,655,210	R403W	probably damaging	Het
Me3	T	G	7: 89,633,022	S38A	probably benign	Het
Myg1	A	T	15: 102,331,829	D30V	probably benign	Het
Nbea	A	G	3: 55,630,189	I2841T	possibly damaging	Het
Nek1	T	A	8: 61,089,813		probably null	Het
Obsl1	C	T	1: 75,493,883	R1043H	probably benign	Het
Olfr1158	T	G	2: 87,990,582	I157R	probably damaging	Het
Olfr1198	G	T	2: 88,746,017	D290E	probably benign	Het
Olfr1475	A	C	19: 13,479,607	V197G	possibly damaging	Het
Olfr430	A	T	1: 174,069,658	Y120F	probably damaging	Het
Osbpl9	A	G	4: 109,064,583	Y613H	probably damaging	Het
Per3	C	T	4: 151,042,792		probably null	Het
Pex6	G	T	17: 46,723,498	V758L	probably damaging	Het
Pikfyve	A	G	1: 65,252,548	I1309V	probably damaging	Het
Pimreg	A	G	11: 72,043,159	E37G	possibly damaging	Het
Pjvk	G	A	2: 76,655,888	V211I	probably benign	Het
Plekhg4	T	A	8: 105,381,661	V1112E	probably damaging	Het
Ptprz1	T	A	6: 23,044,320	M2106K	probably damaging	Het
Rdh16f2	G	T	10: 127,876,896	L254F	probably benign	Het
Rictor	G	A	15: 6,773,862	R485Q	possibly damaging	Het
Rnf146	G	A	10: 29,347,479	T137M	probably damaging	Het
Rrp9	T	A	9: 106,483,004	C204S	probably damaging	Het
Shkbp1	T	C	7: 27,342,351	T693A	probably benign	Het
Skint9	A	G	4: 112,413,962	Y84H	probably benign	Het
Slc22a12	A	T	19: 6,536,731		probably null	Het
Slfn4	T	C	11: 83,185,385	C26R	possibly damaging	Het
Snrnp200	T	C	2: 127,232,443	L1401P	probably damaging	Het
Specc1	T	A	11: 62,119,284		probably null	Het
Spef2	A	T	15: 9,717,482	M316K	probably damaging	Het
Tbc1d22b	A	G	17: 29,571,673	R204G	probably damaging	Het
Tgfbr3l	C	A	8: 4,249,548	D110E	probably benign	Het
Ticrr	T	G	7: 79,675,323	S532R	probably damaging	Het
Ticrr	C	A	7: 79,679,046	Y644*	probably null	Het
Tmem5	T	C	10: 122,089,015	T261A	probably benign	Het
Traf3ip1	A	T	1: 91,522,857	T509S	probably damaging	Het
Trmt10b	T	C	4: 45,307,946	Y209H	probably damaging	Het
Trmt6	T	C	2: 132,810,237	M172V	probably damaging	Het
Tsc1	A	G	2: 28,686,113	D978G	probably benign	Het
Tshz2	C	A	2: 169,883,923	F146L	probably benign	Het
Tspyl4	G	T	10: 34,297,580	E23*	probably null	Het
Ulk2	A	T	11: 61,841,339		probably benign	Het
Umodl1	A	T	17: 31,008,700	I1336F	probably damaging	Het
Vezt	T	C	10: 93,970,563	D662G	probably benign	Het
Vnn1	A	T	10: 23,900,828	Q359L	possibly damaging	Het
Vnn1	G	T	10: 23,900,829	Q359H	probably benign	Het
Zdhhc16	A	G	19: 41,941,955	N14S	probably damaging	Het
Zfp455	T	C	13: 67,207,537	S225P	probably damaging	Het
Zfp74	T	A	7: 29,935,061	E407D	probably benign	Het
Zic2	T	A	14: 122,478,619	H384Q	possibly damaging	Het

Other mutations in Cntnap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Cntnap2	APN	6	46015263	missense	possibly damaging	0.92
IGL00657:Cntnap2	APN	6	46988787	missense	probably damaging	0.98
IGL00846:Cntnap2	APN	6	47193038	missense	probably benign	0.12
IGL00851:Cntnap2	APN	6	46484072	missense	probably benign
IGL00857:Cntnap2	APN	6	47049424	missense	probably benign	0.00
IGL01290:Cntnap2	APN	6	46015465	missense	probably benign	0.06
IGL01445:Cntnap2	APN	6	47193013	missense	probably benign	0.14
IGL01468:Cntnap2	APN	6	47271371	nonsense	probably null
IGL01859:Cntnap2	APN	6	46988721	missense	probably damaging	1.00
IGL02092:Cntnap2	APN	6	46234203	missense	probably damaging	1.00
IGL02239:Cntnap2	APN	6	47021654	missense	probably damaging	0.99
IGL02508:Cntnap2	APN	6	46234320	missense	probably damaging	1.00
IGL02530:Cntnap2	APN	6	47021736	missense	possibly damaging	0.48
IGL03013:Cntnap2	APN	6	47095549	missense	possibly damaging	0.66
BB004:Cntnap2	UTSW	6	47095687	missense	possibly damaging	0.93
BB014:Cntnap2	UTSW	6	47095687	missense	possibly damaging	0.93
IGL02802:Cntnap2	UTSW	6	46170245	missense	probably damaging	1.00
R0001:Cntnap2	UTSW	6	46530171	missense	probably benign	0.04
R0007:Cntnap2	UTSW	6	45992073	missense	possibly damaging	0.95
R0007:Cntnap2	UTSW	6	45992073	missense	possibly damaging	0.95
R0043:Cntnap2	UTSW	6	46483983	missense	probably benign	0.01
R0118:Cntnap2	UTSW	6	45060392	splice site	probably null
R0352:Cntnap2	UTSW	6	45992084	splice site	probably null
R0389:Cntnap2	UTSW	6	46009637	missense	probably benign	0.06
R0482:Cntnap2	UTSW	6	45715816	missense	probably benign	0.00
R0530:Cntnap2	UTSW	6	46529905	nonsense	probably null
R0611:Cntnap2	UTSW	6	47095549	missense	possibly damaging	0.66
R0630:Cntnap2	UTSW	6	46988760	missense	probably damaging	0.99
R0636:Cntnap2	UTSW	6	47296708	splice site	probably benign
R0976:Cntnap2	UTSW	6	47271230	missense	probably damaging	1.00
R1195:Cntnap2	UTSW	6	46483968	missense	probably benign
R1195:Cntnap2	UTSW	6	46483968	missense	probably benign
R1195:Cntnap2	UTSW	6	46483968	missense	probably benign
R1387:Cntnap2	UTSW	6	47107914	missense	probably benign	0.19
R1524:Cntnap2	UTSW	6	46530679	missense	probably damaging	1.00
R1609:Cntnap2	UTSW	6	46015330	missense	probably benign	0.13
R1716:Cntnap2	UTSW	6	47107892	nonsense	probably null
R1809:Cntnap2	UTSW	6	46988675	missense	probably damaging	0.99
R1813:Cntnap2	UTSW	6	46530633	missense	probably damaging	1.00
R2103:Cntnap2	UTSW	6	47298588	missense	probably damaging	1.00
R2133:Cntnap2	UTSW	6	47298445	missense	probably damaging	1.00
R3037:Cntnap2	UTSW	6	46015266	missense	possibly damaging	0.57
R3899:Cntnap2	UTSW	6	45991903	missense	probably benign	0.00
R4027:Cntnap2	UTSW	6	46856128	missense	probably benign
R4030:Cntnap2	UTSW	6	46856128	missense	probably benign
R4237:Cntnap2	UTSW	6	46530390	intron	probably benign
R4445:Cntnap2	UTSW	6	46759851	missense	probably benign	0.01
R4737:Cntnap2	UTSW	6	45060317	missense	possibly damaging	0.65
R4740:Cntnap2	UTSW	6	45060317	missense	possibly damaging	0.65
R4915:Cntnap2	UTSW	6	46530035	intron	probably benign
R4918:Cntnap2	UTSW	6	46530035	intron	probably benign
R4999:Cntnap2	UTSW	6	45920834	missense	probably damaging	0.96
R5373:Cntnap2	UTSW	6	47107969	missense	probably benign	0.00
R5374:Cntnap2	UTSW	6	47107969	missense	probably benign	0.00
R5742:Cntnap2	UTSW	6	45920926	nonsense	probably null
R5748:Cntnap2	UTSW	6	45715884	missense	probably damaging	1.00
R5765:Cntnap2	UTSW	6	46529815	intron	probably benign
R6118:Cntnap2	UTSW	6	47193077	missense	possibly damaging	0.81
R6181:Cntnap2	UTSW	6	46759808	missense	probably damaging	1.00
R6189:Cntnap2	UTSW	6	47271298	missense	probably damaging	1.00
R6262:Cntnap2	UTSW	6	45060112	splice site	probably null
R6385:Cntnap2	UTSW	6	46856180	missense	probably benign	0.00
R6555:Cntnap2	UTSW	6	46759760	missense	probably damaging	1.00
R6577:Cntnap2	UTSW	6	46170272	missense	probably benign	0.25
R6610:Cntnap2	UTSW	6	46015257	missense	probably benign	0.08
R6761:Cntnap2	UTSW	6	47049373	missense	probably benign	0.03
R7125:Cntnap2	UTSW	6	46988646	missense	probably benign	0.12
R7329:Cntnap2	UTSW	6	47271271	missense	possibly damaging	0.94
R7502:Cntnap2	UTSW	6	46484029	missense	possibly damaging	0.83
R7927:Cntnap2	UTSW	6	47095687	missense	possibly damaging	0.93
R8057:Cntnap2	UTSW	6	46347145	missense	probably damaging	0.98
R8261:Cntnap2	UTSW	6	47095693	missense	probably damaging	0.98
R8356:Cntnap2	UTSW	6	47049373	missense	probably benign	0.03
R8479:Cntnap2	UTSW	6	46759773	missense	probably benign	0.14
R8503:Cntnap2	UTSW	6	45992041	missense	probably damaging	1.00
R8698:Cntnap2	UTSW	6	47049222	missense	probably damaging	1.00
R8719:Cntnap2	UTSW	6	46001227	missense	probably damaging	1.00
R8816:Cntnap2	UTSW	6	46856142	missense	possibly damaging	0.72
R8987:Cntnap2	UTSW	6	46484049	missense	probably benign	0.01
R9000:Cntnap2	UTSW	6	46484205	intron	probably benign
R9209:Cntnap2	UTSW	6	47049249	missense	probably damaging	1.00
R9253:Cntnap2	UTSW	6	46001178	missense	probably benign	0.00
R9310:Cntnap2	UTSW	6	46001347	missense	probably damaging	1.00
R9395:Cntnap2	UTSW	6	46001310	missense	probably damaging	0.98
R9462:Cntnap2	UTSW	6	46234283	missense	probably damaging	0.99
R9526:Cntnap2	UTSW	6	46015231	missense	probably damaging	1.00
R9600:Cntnap2	UTSW	6	45992075	missense	probably damaging	0.98
R9621:Cntnap2	UTSW	6	46988792	missense	probably damaging	0.98
R9738:Cntnap2	UTSW	6	46015439	frame shift	probably null
R9745:Cntnap2	UTSW	6	46234166	missense	probably benign	0.01
R9775:Cntnap2	UTSW	6	47049327	missense	probably damaging	1.00
RF022:Cntnap2	UTSW	6	47021665	missense	probably damaging	1.00
X0018:Cntnap2	UTSW	6	46009518	missense	possibly damaging	0.53
X0063:Cntnap2	UTSW	6	47021754	missense	possibly damaging	0.92
X0066:Cntnap2	UTSW	6	46234245	missense	probably benign	0.03
Z1176:Cntnap2	UTSW	6	47271148	missense	probably benign	0.00
Z1177:Cntnap2	UTSW	6	46015299	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- tctgactgCATAGCAGATAGTGAGTGTT -3'
(R):5'- TCACATTGACCTCATTCTGCGTTTGTAT -3'

Sequencing Primer
(F):5'- GGATTCCAGCTCACTGAATTATACC -3'
(R):5'- AGGTGCTCCTGATATTTGTCTAC -3'

Posted On

2014-05-23