Mutagenetix > Incidental Mutation

Incidental Mutation 'R9526:Cntnap2'

719218

Institutional Source

Beutler Lab

Gene Symbol

Cntnap2

Ensembl Gene

ENSMUSG00000039419

Gene Name

contactin associated protein-like 2

Synonyms

5430425M22Rik, Caspr2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9526 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45059357-47304213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46015231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 364 (L364Q)

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: L364Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419
AA Change: L364Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,609,098	Y372C	probably damaging	Het
4930412O13Rik	A	T	2: 9,882,823	T12S	unknown	Het
Actn1	A	G	12: 80,183,619	L287S	probably damaging	Het
Adgrf1	A	T	17: 43,305,346	Q292L	possibly damaging	Het
Arhgap32	A	G	9: 32,260,730	D1602G	probably benign	Het
Atrnl1	C	T	19: 57,629,119	P109S	probably damaging	Het
Camsap1	G	A	2: 25,953,950	H230Y	probably benign	Het
Capns1	C	T	7: 30,192,187	C144Y	probably damaging	Het
Ccdc17	G	A	4: 116,598,797	V341I	possibly damaging	Het
Cd36	T	C	5: 17,797,035	T323A	probably damaging	Het
Cdc14a	CGCTGCTGCTGCTGCTGCTG	CGCTGCTGCTGCTGCTG	3: 116,293,860		probably benign	Het
Ckap2l	G	A	2: 129,269,241	Q679*	probably null	Het
Clec4g	T	A	8: 3,718,565	N93I	probably benign	Het
Cul9	A	G	17: 46,530,100	M748T	probably benign	Het
Dnah11	A	T	12: 118,186,976	I349N	probably damaging	Het
Dnajc14	T	A	10: 128,806,391	Y61N	probably benign	Het
Dock6	A	T	9: 21,802,506	Y1909*	probably null	Het
Dock8	T	A	19: 25,188,375	D1874E	probably benign	Het
Dpm1	A	G	2: 168,230,290	S22P	probably benign	Het
Dysf	T	C	6: 84,151,903	L1385P	probably damaging	Het
Egf	T	C	3: 129,697,772	T859A	probably benign	Het
Eif2b1	A	T	5: 124,573,804	S162T	probably benign	Het
Emilin1	T	C	5: 30,918,140	L575P	probably damaging	Het
Erp27	T	A	6: 136,909,552	Q161L	probably benign	Het
Fbxw10	C	A	11: 62,875,119	D738E	possibly damaging	Het
Fcgbp	T	G	7: 28,091,512	C733G	probably damaging	Het
Fgb	T	A	3: 83,049,815		probably benign	Het
Gm8882	T	A	6: 132,361,928	N109I	unknown	Het
Got1l1	G	T	8: 27,198,475	Q283K	probably benign	Het
Grk2	G	A	19: 4,290,843	R226C	probably damaging	Het
Hoxa10	T	C	6: 52,234,354	D194G	probably benign	Het
Ipcef1	G	A	10: 6,890,620	T363I	probably damaging	Het
Itga10	C	A	3: 96,656,957	T922N	probably damaging	Het
Itgad	T	C	7: 128,178,380	I144T	probably benign	Het
Kat6b	C	A	14: 21,517,496	Q208K	possibly damaging	Het
Kidins220	T	G	12: 25,038,384	L1042R	probably damaging	Het
Kmt2c	T	C	5: 25,281,357	S4733G	probably damaging	Het
Lrig3	A	G	10: 126,014,867	I1101V	probably benign	Het
Lrp1	T	A	10: 127,595,360	N311I	probably damaging	Het
Man2a1	A	T	17: 64,651,315	K275I	probably benign	Het
Map3k10	T	A	7: 27,665,009	N318I	probably damaging	Het
Map3k8	G	A	18: 4,333,869	R408W	probably damaging	Het
Mast1	A	G	8: 84,921,176	M523T	probably damaging	Het
Mast4	T	C	13: 102,737,085	H1925R	probably benign	Het
Med12l	C	T	3: 59,076,786	S461L	probably damaging	Het
Mfap1a	T	C	2: 121,502,756	K65E	probably damaging	Het
Mical1	T	C	10: 41,482,606	S507P	probably benign	Het
Miga2	T	C	2: 30,378,388	V433A	unknown	Het
Mpdz	T	C	4: 81,356,416	T848A	probably benign	Het
Mycn	A	G	12: 12,939,777	V206A	probably benign	Het
Ndst1	G	A	18: 60,705,148	Q342*	probably null	Het
Nectin1	A	G	9: 43,791,072	M39V	probably benign	Het
Nectin4	A	T	1: 171,382,641	R234*	probably null	Het
Ngb	C	G	12: 87,098,543	V113L	possibly damaging	Het
Nphp3	T	A	9: 104,036,138	Y990N	probably damaging	Het
Nrd1	T	C	4: 109,058,636		probably null	Het
Olfr382	T	A	11: 73,516,525	I225F	probably damaging	Het
Olfr484	T	A	7: 108,124,594	Y223F	probably benign	Het
Olfr714	A	T	7: 107,074,532	K235*	probably null	Het
Osbpl6	A	G	2: 76,585,259	Y655C	probably damaging	Het
Pcdhgb4	A	G	18: 37,722,829	Q759R	probably benign	Het
Pcsk4	T	C	10: 80,325,966	D164G	probably damaging	Het
Pde4d	T	A	13: 109,935,381	I303N	probably damaging	Het
Pdf	T	A	8: 107,048,340	M87L	probably benign	Het
Pigb	A	G	9: 73,034,558	S140P	probably damaging	Het
Plch1	T	A	3: 63,851,128		probably benign	Het
Plxna1	G	T	6: 89,342,651	D557E	probably benign	Het
Polr2e	C	T	10: 80,036,958	V149M	probably benign	Het
Polr3a	A	T	14: 24,453,245	C1174S	probably benign	Het
Psmd2	T	A	16: 20,655,619	S308R	probably benign	Het
Ptger1	T	A	8: 83,669,373	V353E	probably damaging	Het
Ptprc	A	G	1: 138,068,373	M940T	probably benign	Het
Pus7l	T	C	15: 94,527,900	N540S	probably damaging	Het
Rap1gds1	T	A	3: 139,050,556	I13L	probably benign	Het
Rasl10b	A	T	11: 83,412,764	N49I	probably damaging	Het
Rftn1	A	T	17: 49,994,209	N537K	probably benign	Het
Rnase4	A	G	14: 51,105,188	Y123C	probably damaging	Het
Rnf181	A	C	6: 72,361,319	N26K	probably benign	Het
Rnf31	G	A	14: 55,598,812		probably null	Het
Rpusd3	C	G	6: 113,416,239	C304S	unknown	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Ryr3	C	A	2: 112,833,925	V1694L	probably benign	Het
Sephs2	T	C	7: 127,273,174	D249G	probably damaging	Het
Serpina10	A	G	12: 103,616,958	I409T	probably damaging	Het
Serpina5	C	T	12: 104,103,144	A205V	probably damaging	Het
Sfr1	T	A	19: 47,735,014	V319E	probably damaging	Het
Skil	T	A	3: 31,117,490	Y542N	probably benign	Het
Slc15a5	T	C	6: 138,072,956	T154A	probably benign	Het
Slc27a2	T	A	2: 126,587,926	L618Q	probably damaging	Het
Slc6a6	A	T	6: 91,749,827	Y483F	probably benign	Het
Sprr1b	T	C	3: 92,437,136	I144M	probably benign	Het
Stat5a	T	A	11: 100,880,335	V580E		Het
Tnk1	C	T	11: 69,855,185	D305N	probably damaging	Het
Tox2	A	G	2: 163,323,010	*523W	probably null	Het
Trav12-2	A	G	14: 53,616,628	N20D	probably benign	Het
Trav16	T	A	14: 53,743,589	N78K	probably damaging	Het
Trf	C	T	9: 103,226,931	A78T	probably damaging	Het
Ttn	A	G	2: 76,881,199		probably benign	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het
Vmn2r94	A	T	17: 18,256,999	F383L	probably benign	Het
Vwa2	T	C	19: 56,906,776	S461P	probably benign	Het
Zfp991	G	A	4: 147,179,870	G568E	probably damaging	Het
Zfpl1	A	G	19: 6,084,410	F15S	probably 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
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
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
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'- TCTCCATCACAGCAGGCAAG -3'
(R):5'- ACATTGCCCAAGTTATCTGCAAAG -3'

Sequencing Primer
(F):5'- GACTGGTATTGCATGCTACAC -3'
(R):5'- GCCCAAGTTATCTGCAAAGTGACTG -3'

Posted On

2022-07-18