Mutagenetix > Incidental Mutation

Incidental Mutation 'R4918:Cntnap2'

378397

Institutional Source

Beutler Lab

Gene Symbol

Cntnap2

Ensembl Gene

ENSMUSG00000039419

Gene Name

contactin associated protein-like 2

Synonyms

5430425M22Rik, Caspr2

MMRRC Submission

042520-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4918 (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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (116/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	G	17: 28,908,363	Q224P	probably benign	Het
Abca6	T	A	11: 110,180,551	I1492F	probably damaging	Het
Ago4	A	C	4: 126,506,842	C693G	probably damaging	Het
Apobec2	T	C	17: 48,423,125	E171G	probably benign	Het
Arfgef3	T	A	10: 18,616,890	I1258F	probably damaging	Het
Arhgef40	A	G	14: 51,990,099	E434G	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
Bdp1	A	T	13: 100,055,205	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,827,471	R396Q	probably benign	Het
Bnip1	C	T	17: 26,783,551		probably benign	Het
Bpifb9b	T	A	2: 154,314,106		probably null	Het
Casp8	T	C	1: 58,827,218	F126S	probably damaging	Het
Cdh26	T	C	2: 178,449,821	S58P	probably benign	Het
Col9a1	T	C	1: 24,237,258	I749T	possibly damaging	Het
Ddx50	A	T	10: 62,627,671	C414*	probably null	Het
Defb42	A	G	14: 63,048,341	I57V	probably benign	Het
Dennd5a	A	G	7: 109,901,089	F943S	probably damaging	Het
Dhx40	G	T	11: 86,804,391	H98N	possibly damaging	Het
Disp2	A	T	2: 118,790,454	S556C	probably damaging	Het
Dpysl5	T	G	5: 30,792,268	F461V	probably damaging	Het
Efcab11	T	C	12: 99,719,062	D151G	probably damaging	Het
Egfem1	T	C	3: 29,151,893	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Esyt2	T	C	12: 116,324,140	V226A	probably benign	Het
Fan1	A	T	7: 64,373,538		probably benign	Het
Fasn	T	G	11: 120,816,646	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966	N388K	probably damaging	Het
Fer1l4	T	C	2: 156,031,300	K1287E	probably benign	Het
Fn1	A	T	1: 71,595,809		probably null	Het
Fsip2	G	A	2: 82,993,770	V6616I	possibly damaging	Het
Fut8	G	T	12: 77,475,044	A486S	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm10764	A	G	10: 87,290,717		noncoding transcript	Het
Gm6788	C	T	19: 28,763,264		noncoding transcript	Het
Gm8122	T	C	14: 43,234,116	N65S	unknown	Het
Golga4	C	A	9: 118,558,145	S1445Y	probably damaging	Het
Gsdmd	A	G	15: 75,864,392	I123M	probably benign	Het
Hsf4	A	G	8: 105,272,735	E235G	probably benign	Het
Ifi206	T	A	1: 173,482,044	T129S	possibly damaging	Het
Jakmip1	G	A	5: 37,091,275	R93Q	probably damaging	Het
Kcnj1	T	A	9: 32,396,760	L160Q	probably damaging	Het
Kif1a	T	A	1: 93,074,978	E233V	probably benign	Het
Krt5	A	T	15: 101,710,307	Y340N	probably damaging	Het
Krt90	T	A	15: 101,562,479	H116L	possibly damaging	Het
Large2	A	G	2: 92,366,107		probably benign	Het
March4	T	G	1: 72,428,779	S365R	probably benign	Het
Mei4	A	G	9: 81,890,163	T10A	probably benign	Het
Meis1	T	C	11: 19,009,222		probably benign	Het
Mllt1	T	C	17: 56,899,813	T344A	probably benign	Het
Mrps28	A	G	3: 8,882,554		probably benign	Het
Ncdn	G	A	4: 126,749,938	L364F	possibly damaging	Het
Nckap1l	A	G	15: 103,483,613	N825S	probably benign	Het
Nfat5	T	A	8: 107,324,652	D47E	probably damaging	Het
Nfix	T	C	8: 84,771,829	I172V	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nsf	G	A	11: 103,910,359		probably benign	Het
Olfr1010	T	C	2: 85,754,121		probably benign	Het
Olfr1350	C	T	7: 6,570,644	L218F	possibly damaging	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Olfr353	A	G	2: 36,890,332	I172T	probably damaging	Het
Olfr362	A	T	2: 37,105,158	I164N	possibly damaging	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Olfr577	A	T	7: 102,973,407	I195N	possibly damaging	Het
Olfr988	C	T	2: 85,353,288	V213I	probably benign	Het
Pcdh20	A	C	14: 88,467,668	L732R	probably damaging	Het
Pgbd5	C	A	8: 124,370,566	K408N	probably benign	Het
Pip4k2c	T	C	10: 127,199,327	T391A	possibly damaging	Het
Ppm1k	T	A	6: 57,510,777	N354Y	probably damaging	Het
Prpf18	T	C	2: 4,637,170	D186G	probably benign	Het
Rab3gap1	T	A	1: 127,889,177	W58R	possibly damaging	Het
Rbp3	T	C	14: 33,955,411	Y439H	probably damaging	Het
Rere	T	A	4: 150,619,144	W1528R	probably damaging	Het
Rsf1	T	C	7: 97,662,405	S781P	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryr2	A	G	13: 11,594,986	V753A	probably damaging	Het
Schip1	A	T	3: 68,408,485		probably benign	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455	N1649S	probably damaging	Het
Sh3rf3	A	T	10: 59,007,103	D297V	probably damaging	Het
Slc20a2	C	T	8: 22,561,004	S351L	probably damaging	Het
Slc35e2	C	A	4: 155,616,236	P272Q	probably damaging	Het
Slc4a1	A	G	11: 102,352,453	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,669,370	V334I	probably benign	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Spag6	A	T	2: 18,745,549	I469F	probably benign	Het
Spsb2	A	C	6: 124,809,748	E148A	probably benign	Het
Sulf1	A	G	1: 12,818,496	D335G	probably damaging	Het
Tchhl1	A	G	3: 93,470,316	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154	I83V	probably damaging	Het
Thsd7a	A	C	6: 12,327,559	I1438S	probably damaging	Het
Tm4sf1	C	T	3: 57,293,027	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,966,521	I541N	probably benign	Het
Trav6d-4	T	C	14: 52,753,783	F95S	probably damaging	Het
Ttn	T	C	2: 76,759,254	T21219A	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Unc80	T	C	1: 66,646,550	Y2278H	possibly damaging	Het
Usp8	A	T	2: 126,720,140	K85*	probably null	Het
Vmn2r69	T	A	7: 85,406,759	M724L	probably benign	Het
Zeb2	A	G	2: 44,996,882	I706T	probably damaging	Het
Zfp512	T	C	5: 31,476,865	S407P	probably damaging	Het
Zfp791	T	A	8: 85,110,951	I95L	probably benign	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
R1757:Cntnap2	UTSW	6	46759829	missense	probably damaging	1.00
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
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'- TTGTCCAGGAAGCTCCATCG -3'
(R):5'- GACAGTTAGTACCAGGTACCTG -3'

Sequencing Primer
(F):5'- GTCCAGGAAGCTCCATCGTTTATC -3'
(R):5'- TAGTACCAGGTACCTGCATGTAG -3'

Posted On

2016-04-15