Mutagenetix > Incidental Mutation

Incidental Mutation 'R4915:Cntnap2'

379928

Institutional Source

Beutler Lab

Gene Symbol

Cntnap2

Ensembl Gene

ENSMUSG00000039419

Gene Name

contactin associated protein-like 2

Synonyms

5430425M22Rik, Caspr2

MMRRC Submission

042517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45059357-47304213 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 46530035 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110288 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000114641

SMART Domains

Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182751

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

98% (162/166)

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: 135 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	C	9: 103,251,855	Y235*	probably null	Het
1700011H14Rik	A	T	14: 49,232,894	N189K	probably benign	Het
2700049A03Rik	C	T	12: 71,189,646	A1257V	possibly damaging	Het
Aldh8a1	T	C	10: 21,395,763	S463P	probably damaging	Het
Angptl1	T	G	1: 156,844,818	D71E	probably benign	Het
Ank2	T	A	3: 126,942,671		probably benign	Het
Ano1	A	G	7: 144,611,375	S649P	possibly damaging	Het
Arhgef40	A	G	14: 51,990,099	E434G	probably damaging	Het
Asb15	A	T	6: 24,566,293	D415V	probably damaging	Het
Baz2b	T	A	2: 59,914,043	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,378,886	D324G	probably damaging	Het
Bfsp1	C	T	2: 143,827,471	R396Q	probably benign	Het
Bmi1	G	A	2: 18,682,332		probably benign	Het
Bpifb9b	T	A	2: 154,314,106		probably null	Het
Brd9	A	G	13: 73,938,455	E25G	probably damaging	Het
Btbd7	A	T	12: 102,837,787	C331*	probably null	Het
Cdh26	T	C	2: 178,449,821	S58P	probably benign	Het
Cenpj	T	C	14: 56,553,718	D328G	probably damaging	Het
Cherp	T	C	8: 72,468,397	D255G	probably damaging	Het
Clec5a	T	A	6: 40,585,231		probably benign	Het
Col7a1	G	A	9: 108,966,464	G1529E	unknown	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp2a22	C	A	7: 26,937,770	E196D	probably benign	Het
Cyp4f18	T	A	8: 72,009,054	H63L	probably damaging	Het
Dclk2	A	T	3: 86,824,742		probably null	Het
Ddx6	T	A	9: 44,612,873	D82E	probably damaging	Het
Defb42	A	G	14: 63,048,341	I57V	probably benign	Het
Dennd5a	A	G	7: 109,901,089	F943S	probably damaging	Het
Dip2c	T	A	13: 9,621,869		probably null	Het
Disp2	A	T	2: 118,790,454	S556C	probably damaging	Het
Dnah12	A	T	14: 26,734,570	D816V	probably damaging	Het
Dpy19l3	T	C	7: 35,752,742		probably benign	Het
Efcab11	T	C	12: 99,719,062	D151G	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Evl	G	T	12: 108,686,106	R359L	probably damaging	Het
Fasn	T	G	11: 120,816,646	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966	N388K	probably damaging	Het
Fbxw14	A	T	9: 109,274,524	F40Y	possibly damaging	Het
Fbxw22	A	G	9: 109,383,941	F313L	probably damaging	Het
Fer1l4	T	C	2: 156,031,300	K1287E	probably benign	Het
Fn1	A	T	1: 71,595,809		probably null	Het
Fry	A	T	5: 150,478,863	T790S	probably benign	Het
Fut8	G	T	12: 77,475,044	A486S	probably damaging	Het
Gfra1	A	T	19: 58,267,090	S308R	probably damaging	Het
Gm13030	T	A	4: 138,873,928		probably benign	Het
Gm37150	C	T	9: 72,385,490		noncoding transcript	Het
Gm4450	C	T	3: 98,450,529	V56M	probably damaging	Het
Gm6788	C	T	19: 28,763,264		noncoding transcript	Het
Gm8122	T	C	14: 43,234,116	N65S	unknown	Het
Gnb4	C	T	3: 32,585,087		probably benign	Het
Gprin1	G	T	13: 54,738,073	P796Q	probably damaging	Het
Grin1	A	G	2: 25,298,553		probably benign	Het
Helz2	T	C	2: 181,232,438	R2088G	possibly damaging	Het
Ighv6-6	C	A	12: 114,434,975	R57L	probably damaging	Het
Inpp5f	A	T	7: 128,685,116	D573V	probably damaging	Het
Iqgap3	T	A	3: 88,101,527	I643K	possibly damaging	Het
Itga11	C	A	9: 62,752,248	Y427*	probably null	Het
Kbtbd8	T	G	6: 95,126,534	M388R	possibly damaging	Het
Kif1a	T	A	1: 93,074,978	E233V	probably benign	Het
Krt10	T	C	11: 99,387,508	N275S	probably damaging	Het
Lrrc3	T	C	10: 77,901,419	D61G	probably benign	Het
Mapk8ip3	A	G	17: 24,909,153	S377P	possibly damaging	Het
Mccc1	A	G	3: 35,997,554	L32S	probably benign	Het
Meis1	T	C	11: 19,009,222		probably benign	Het
Mmp11	C	T	10: 75,925,585	A31T	probably damaging	Het
Mthfsl	A	C	9: 88,715,497	L67V	probably damaging	Het
Myo1c	T	G	11: 75,656,309	M1R	probably null	Het
N4bp2	T	A	5: 65,803,504	M506K	probably damaging	Het
Nfix	T	C	8: 84,771,829	I172V	probably benign	Het
Nid1	A	G	13: 13,499,586	E850G	possibly damaging	Het
Nlrp9c	T	C	7: 26,384,460	T565A	probably benign	Het
Nomo1	T	C	7: 46,044,232	F163L	probably benign	Het
Nsd1	A	G	13: 55,276,528	T1463A	probably benign	Het
Nsd1	T	C	13: 55,247,868	V1197A	possibly damaging	Het
Nsf	G	A	11: 103,910,359		probably benign	Het
Olfr1010	T	C	2: 85,754,121		probably benign	Het
Olfr1080	A	G	2: 86,554,055	L23P	probably damaging	Het
Olfr1301	A	T	2: 111,754,380	I44F	probably benign	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Olfr262	A	G	19: 12,241,373	V96A	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pcdha6	T	A	18: 36,968,457	D234E	probably damaging	Het
Pcnx	C	A	12: 81,974,495	F1425L	probably benign	Het
Pdzd9	T	G	7: 120,670,168	N10T	possibly damaging	Het
Pex6	A	T	17: 46,714,056	H345L	probably damaging	Het
Pfkfb3	G	A	2: 11,490,298	Q100*	probably null	Het
Pgm1	G	A	5: 64,100,948	G92E	probably damaging	Het
Pip4k2c	T	C	10: 127,199,327	T391A	possibly damaging	Het
Plcxd2	C	T	16: 45,980,578	W94*	probably null	Het
Ppm1k	T	A	6: 57,510,777	N354Y	probably damaging	Het
Prkcg	T	G	7: 3,330,265	Y624*	probably null	Het
Rabep2	T	C	7: 126,444,922	S517P	probably damaging	Het
Rabgap1l	A	G	1: 160,441,842	I717T	probably benign	Het
Rasef	A	G	4: 73,731,459	C484R	probably damaging	Het
Rdh19	A	G	10: 127,850,244	D75G	probably benign	Het
Rpl21-ps10	T	C	3: 38,107,468		noncoding transcript	Het
Rsl1d1	A	T	16: 11,199,729		probably null	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Rwdd1	T	C	10: 34,009,078	D62G	possibly damaging	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455	N1649S	probably damaging	Het
Slc20a2	C	T	8: 22,561,004	S351L	probably damaging	Het
Slc24a1	A	T	9: 64,947,931	F565I	unknown	Het
Slc4a1	A	G	11: 102,352,453	V784A	probably damaging	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Sox6	T	C	7: 115,476,964	D814G	probably damaging	Het
Spata4	T	C	8: 54,602,436		probably null	Het
Spats2l	A	T	1: 57,902,188	K202M	probably damaging	Het
Speer4b	C	T	5: 27,500,136	E80K	probably benign	Het
Sqle	T	G	15: 59,321,369	Y198*	probably null	Het
Srek1	T	C	13: 103,752,563		probably benign	Het
Srek1	T	C	13: 103,752,686		probably benign	Het
St14	G	A	9: 31,108,664	R50*	probably null	Het
Tcaf1	A	G	6: 42,675,196	V784A	probably damaging	Het
Tfr2	C	T	5: 137,583,411	R587W	probably damaging	Het
Tmpo	A	G	10: 91,149,549	V357A	probably damaging	Het
Trrap	A	T	5: 144,805,735	I1101F	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttpal	G	A	2: 163,607,477	R84H	probably damaging	Het
Tyk2	T	C	9: 21,111,137	T799A	probably benign	Het
Ugt1a10	A	T	1: 88,055,924	D148V	probably damaging	Het
Usp29	C	T	7: 6,961,505	P116S	probably benign	Het
Usp8	A	T	2: 126,720,140	K85*	probably null	Het
Usp9y	C	T	Y: 1,316,735	R1938H	probably damaging	Het
Vmn1r90	T	G	7: 14,562,025	R49S	possibly damaging	Het
Vmn2r71	C	A	7: 85,621,268	N547K	probably damaging	Het
Vps45	T	C	3: 96,019,631	T535A	probably damaging	Het
Yars	A	T	4: 129,210,591		probably benign	Het
Zfp114	T	C	7: 24,177,865	L44P	probably damaging	Het
Zfp36l2	A	G	17: 84,186,262		probably benign	Het
Zfp512	T	C	5: 31,476,865	S407P	probably damaging	Het
Zfp574	C	T	7: 25,080,726	P391L	probably damaging	Het
Zfp607a	T	G	7: 27,878,560	C352G	probably benign	Het
Zfp791	T	A	8: 85,110,951	I95L	probably benign	Het
Zfr	A	C	15: 12,162,112		probably null	Het

Other mutations in Cntnap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Cntnap2	APN	6	46,015,263 (GRCm38)	missense	possibly damaging	0.92
IGL00657:Cntnap2	APN	6	46,988,787 (GRCm38)	missense	probably damaging	0.98
IGL00846:Cntnap2	APN	6	47,193,038 (GRCm38)	missense	probably benign	0.12
IGL00851:Cntnap2	APN	6	46,484,072 (GRCm38)	missense	probably benign
IGL00857:Cntnap2	APN	6	47,049,424 (GRCm38)	missense	probably benign	0.00
IGL01290:Cntnap2	APN	6	46,015,465 (GRCm38)	missense	probably benign	0.06
IGL01445:Cntnap2	APN	6	47,193,013 (GRCm38)	missense	probably benign	0.14
IGL01468:Cntnap2	APN	6	47,271,371 (GRCm38)	nonsense	probably null
IGL01859:Cntnap2	APN	6	46,988,721 (GRCm38)	missense	probably damaging	1.00
IGL02092:Cntnap2	APN	6	46,234,203 (GRCm38)	missense	probably damaging	1.00
IGL02239:Cntnap2	APN	6	47,021,654 (GRCm38)	missense	probably damaging	0.99
IGL02508:Cntnap2	APN	6	46,234,320 (GRCm38)	missense	probably damaging	1.00
IGL02530:Cntnap2	APN	6	47,021,736 (GRCm38)	missense	possibly damaging	0.48
IGL03013:Cntnap2	APN	6	47,095,549 (GRCm38)	missense	possibly damaging	0.66
BB004:Cntnap2	UTSW	6	47,095,687 (GRCm38)	missense	possibly damaging	0.93
BB014:Cntnap2	UTSW	6	47,095,687 (GRCm38)	missense	possibly damaging	0.93
IGL02802:Cntnap2	UTSW	6	46,170,245 (GRCm38)	missense	probably damaging	1.00
R0001:Cntnap2	UTSW	6	46,530,171 (GRCm38)	missense	probably benign	0.04
R0007:Cntnap2	UTSW	6	45,992,073 (GRCm38)	missense	possibly damaging	0.95
R0007:Cntnap2	UTSW	6	45,992,073 (GRCm38)	missense	possibly damaging	0.95
R0043:Cntnap2	UTSW	6	46,483,983 (GRCm38)	missense	probably benign	0.01
R0118:Cntnap2	UTSW	6	45,060,392 (GRCm38)	splice site	probably null
R0352:Cntnap2	UTSW	6	45,992,084 (GRCm38)	splice site	probably null
R0389:Cntnap2	UTSW	6	46,009,637 (GRCm38)	missense	probably benign	0.06
R0482:Cntnap2	UTSW	6	45,715,816 (GRCm38)	missense	probably benign	0.00
R0530:Cntnap2	UTSW	6	46,529,905 (GRCm38)	nonsense	probably null
R0611:Cntnap2	UTSW	6	47,095,549 (GRCm38)	missense	possibly damaging	0.66
R0630:Cntnap2	UTSW	6	46,988,760 (GRCm38)	missense	probably damaging	0.99
R0636:Cntnap2	UTSW	6	47,296,708 (GRCm38)	splice site	probably benign
R0976:Cntnap2	UTSW	6	47,271,230 (GRCm38)	missense	probably damaging	1.00
R1195:Cntnap2	UTSW	6	46,483,968 (GRCm38)	missense	probably benign
R1195:Cntnap2	UTSW	6	46,483,968 (GRCm38)	missense	probably benign
R1195:Cntnap2	UTSW	6	46,483,968 (GRCm38)	missense	probably benign
R1387:Cntnap2	UTSW	6	47,107,914 (GRCm38)	missense	probably benign	0.19
R1524:Cntnap2	UTSW	6	46,530,679 (GRCm38)	missense	probably damaging	1.00
R1609:Cntnap2	UTSW	6	46,015,330 (GRCm38)	missense	probably benign	0.13
R1716:Cntnap2	UTSW	6	47,107,892 (GRCm38)	nonsense	probably null
R1757:Cntnap2	UTSW	6	46,759,829 (GRCm38)	missense	probably damaging	1.00
R1809:Cntnap2	UTSW	6	46,988,675 (GRCm38)	missense	probably damaging	0.99
R1813:Cntnap2	UTSW	6	46,530,633 (GRCm38)	missense	probably damaging	1.00
R2103:Cntnap2	UTSW	6	47,298,588 (GRCm38)	missense	probably damaging	1.00
R2133:Cntnap2	UTSW	6	47,298,445 (GRCm38)	missense	probably damaging	1.00
R3037:Cntnap2	UTSW	6	46,015,266 (GRCm38)	missense	possibly damaging	0.57
R3899:Cntnap2	UTSW	6	45,991,903 (GRCm38)	missense	probably benign	0.00
R4027:Cntnap2	UTSW	6	46,856,128 (GRCm38)	missense	probably benign
R4030:Cntnap2	UTSW	6	46,856,128 (GRCm38)	missense	probably benign
R4237:Cntnap2	UTSW	6	46,530,390 (GRCm38)	intron	probably benign
R4445:Cntnap2	UTSW	6	46,759,851 (GRCm38)	missense	probably benign	0.01
R4737:Cntnap2	UTSW	6	45,060,317 (GRCm38)	missense	possibly damaging	0.65
R4740:Cntnap2	UTSW	6	45,060,317 (GRCm38)	missense	possibly damaging	0.65
R4918:Cntnap2	UTSW	6	46,530,035 (GRCm38)	intron	probably benign
R4999:Cntnap2	UTSW	6	45,920,834 (GRCm38)	missense	probably damaging	0.96
R5373:Cntnap2	UTSW	6	47,107,969 (GRCm38)	missense	probably benign	0.00
R5374:Cntnap2	UTSW	6	47,107,969 (GRCm38)	missense	probably benign	0.00
R5742:Cntnap2	UTSW	6	45,920,926 (GRCm38)	nonsense	probably null
R5748:Cntnap2	UTSW	6	45,715,884 (GRCm38)	missense	probably damaging	1.00
R5765:Cntnap2	UTSW	6	46,529,815 (GRCm38)	intron	probably benign
R6118:Cntnap2	UTSW	6	47,193,077 (GRCm38)	missense	possibly damaging	0.81
R6181:Cntnap2	UTSW	6	46,759,808 (GRCm38)	missense	probably damaging	1.00
R6189:Cntnap2	UTSW	6	47,271,298 (GRCm38)	missense	probably damaging	1.00
R6262:Cntnap2	UTSW	6	45,060,112 (GRCm38)	splice site	probably null
R6385:Cntnap2	UTSW	6	46,856,180 (GRCm38)	missense	probably benign	0.00
R6555:Cntnap2	UTSW	6	46,759,760 (GRCm38)	missense	probably damaging	1.00
R6577:Cntnap2	UTSW	6	46,170,272 (GRCm38)	missense	probably benign	0.25
R6610:Cntnap2	UTSW	6	46,015,257 (GRCm38)	missense	probably benign	0.08
R6761:Cntnap2	UTSW	6	47,049,373 (GRCm38)	missense	probably benign	0.03
R7125:Cntnap2	UTSW	6	46,988,646 (GRCm38)	missense	probably benign	0.12
R7329:Cntnap2	UTSW	6	47,271,271 (GRCm38)	missense	possibly damaging	0.94
R7502:Cntnap2	UTSW	6	46,484,029 (GRCm38)	missense	possibly damaging	0.83
R7927:Cntnap2	UTSW	6	47,095,687 (GRCm38)	missense	possibly damaging	0.93
R8057:Cntnap2	UTSW	6	46,347,145 (GRCm38)	missense	probably damaging	0.98
R8261:Cntnap2	UTSW	6	47,095,693 (GRCm38)	missense	probably damaging	0.98
R8356:Cntnap2	UTSW	6	47,049,373 (GRCm38)	missense	probably benign	0.03
R8479:Cntnap2	UTSW	6	46,759,773 (GRCm38)	missense	probably benign	0.14
R8503:Cntnap2	UTSW	6	45,992,041 (GRCm38)	missense	probably damaging	1.00
R8698:Cntnap2	UTSW	6	47,049,222 (GRCm38)	missense	probably damaging	1.00
R8719:Cntnap2	UTSW	6	46,001,227 (GRCm38)	missense	probably damaging	1.00
R8816:Cntnap2	UTSW	6	46,856,142 (GRCm38)	missense	possibly damaging	0.72
R8987:Cntnap2	UTSW	6	46,484,049 (GRCm38)	missense	probably benign	0.01
R9000:Cntnap2	UTSW	6	46,484,205 (GRCm38)	intron	probably benign
R9209:Cntnap2	UTSW	6	47,049,249 (GRCm38)	missense	probably damaging	1.00
R9253:Cntnap2	UTSW	6	46,001,178 (GRCm38)	missense	probably benign	0.00
R9310:Cntnap2	UTSW	6	46,001,347 (GRCm38)	missense	probably damaging	1.00
R9395:Cntnap2	UTSW	6	46,001,310 (GRCm38)	missense	probably damaging	0.98
R9462:Cntnap2	UTSW	6	46,234,283 (GRCm38)	missense	probably damaging	0.99
R9526:Cntnap2	UTSW	6	46,015,231 (GRCm38)	missense	probably damaging	1.00
R9600:Cntnap2	UTSW	6	45,992,075 (GRCm38)	missense	probably damaging	0.98
R9621:Cntnap2	UTSW	6	46,988,792 (GRCm38)	missense	probably damaging	0.98
R9738:Cntnap2	UTSW	6	46,015,439 (GRCm38)	frame shift	probably null
R9745:Cntnap2	UTSW	6	46,234,166 (GRCm38)	missense	probably benign	0.01
R9775:Cntnap2	UTSW	6	47,049,327 (GRCm38)	missense	probably damaging	1.00
RF022:Cntnap2	UTSW	6	47,021,665 (GRCm38)	missense	probably damaging	1.00
X0018:Cntnap2	UTSW	6	46,009,518 (GRCm38)	missense	possibly damaging	0.53
X0063:Cntnap2	UTSW	6	47,021,754 (GRCm38)	missense	possibly damaging	0.92
X0066:Cntnap2	UTSW	6	46,234,245 (GRCm38)	missense	probably benign	0.03
Z1176:Cntnap2	UTSW	6	47,271,148 (GRCm38)	missense	probably benign	0.00
Z1177:Cntnap2	UTSW	6	46,015,299 (GRCm38)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCCTCATAGAACGTGTATTCTGC -3'
(R):5'- TTTCCACGCCAGTTCACAAC -3'

Sequencing Primer
(F):5'- CTGTGCTAATGATTGTCCAGGAAGC -3'
(R):5'- CAGTGGGGAGCATTTTACATCCATC -3'

Posted On

2016-04-15