Mutagenetix > Incidental Mutation

Incidental Mutation 'R6262:Cntnap2'

527946

Institutional Source

Beutler Lab

Gene Symbol

Cntnap2

Ensembl Gene

ENSMUSG00000039419

Gene Name

contactin associated protein-like 2

Synonyms

5430425M22Rik, Caspr2

MMRRC Submission

045016-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6262 (G1)

Quality Score

51.0072

Status

Validated

Chromosome

Chromosomal Location

45059357-47304213 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 45060112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114641] [ENSMUST00000207647]

AlphaFold

no structure available at present

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000207647

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (58/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,092,917 (GRCm38)	T289I	probably benign	Het
Abca2	T	C	2: 25,444,910 (GRCm38)	Y1965H	possibly damaging	Het
Adam26a	T	C	8: 43,569,088 (GRCm38)	N455S	possibly damaging	Het
Art5	C	T	7: 102,098,131 (GRCm38)	G147D	probably benign	Het
Atp5a1	G	A	18: 77,781,212 (GRCm38)	V429M	probably damaging	Het
Calr4	A	T	4: 109,251,367 (GRCm38)	N213I	probably damaging	Het
Cchcr1	T	C	17: 35,530,516 (GRCm38)	S810P	probably benign	Het
Cdh4	A	T	2: 179,797,626 (GRCm38)	R189W	probably damaging	Het
Cdk5rap1	T	C	2: 154,370,686 (GRCm38)	D84G	probably benign	Het
Clasp2	T	A	9: 113,876,352 (GRCm38)		probably null	Het
Cntnap4	T	C	8: 112,803,211 (GRCm38)	Y684H	probably damaging	Het
Cyp2a4	T	A	7: 26,312,230 (GRCm38)	V292E	probably damaging	Het
Dap	A	G	15: 31,235,814 (GRCm38)	T10A	probably benign	Het
Dnah11	G	A	12: 117,931,178 (GRCm38)	R3645C	probably damaging	Het
Dnah9	A	T	11: 65,881,805 (GRCm38)		probably null	Het
Efr3a	T	C	15: 65,857,474 (GRCm38)	S675P	possibly damaging	Het
Gm11639	T	A	11: 104,893,753 (GRCm38)	M2787K	probably benign	Het
Gria1	A	G	11: 57,242,854 (GRCm38)	K451E	probably damaging	Het
Grin3b	A	T	10: 79,974,369 (GRCm38)	M570L	probably benign	Het
Hs2st1	A	G	3: 144,434,613 (GRCm38)	F316L	probably damaging	Het
Hs6st3	A	G	14: 119,138,991 (GRCm38)	T193A	possibly damaging	Het
Hspg2	A	T	4: 137,519,686 (GRCm38)	D1108V	probably damaging	Het
Igf1r	T	A	7: 68,003,972 (GRCm38)	L86Q	probably damaging	Het
Inpp5j	A	G	11: 3,502,615 (GRCm38)	S212P	probably benign	Het
Junb	A	G	8: 84,977,730 (GRCm38)	S234P	possibly damaging	Het
Lhx3	GTGTTGT	GTGT	2: 26,202,423 (GRCm38)		probably benign	Het
Macf1	A	G	4: 123,473,190 (GRCm38)	S1028P	possibly damaging	Het
Met	C	A	6: 17,553,404 (GRCm38)	A1063E	probably benign	Het
Mink1	T	C	11: 70,603,325 (GRCm38)		probably null	Het
Mtor	A	G	4: 148,526,095 (GRCm38)	E1621G	possibly damaging	Het
Mug2	T	C	6: 122,075,255 (GRCm38)	Y991H	probably damaging	Het
Neb	T	C	2: 52,308,687 (GRCm38)	D414G	probably damaging	Het
Nkx6-3	T	C	8: 23,153,847 (GRCm38)	V88A	probably benign	Het
Nr3c2	A	G	8: 76,908,633 (GRCm38)	Q121R	possibly damaging	Het
Nup155	T	C	15: 8,156,741 (GRCm38)	V1329A	probably benign	Het
Olfr1161	T	C	2: 88,025,394 (GRCm38)	V224A	probably benign	Het
Olfr716	T	C	7: 107,147,711 (GRCm38)	Y132H	probably damaging	Het
Pcdhb17	T	A	18: 37,486,698 (GRCm38)	F514I	probably damaging	Het
Pfkl	A	G	10: 77,988,673 (GRCm38)		probably null	Het
Prl8a1	A	T	13: 27,574,143 (GRCm38)	H194Q	possibly damaging	Het
Sh3tc1	C	G	5: 35,699,773 (GRCm38)	E1241Q	probably damaging	Het
Slc6a6	A	T	6: 91,755,032 (GRCm38)	H614L	possibly damaging	Het
Sort1	A	G	3: 108,310,211 (GRCm38)	Y143C	probably damaging	Het
Stat4	T	A	1: 52,102,201 (GRCm38)	W569R	probably null	Het
Taco1	A	T	11: 106,071,867 (GRCm38)	K127*	probably null	Het
Tas2r110	T	C	6: 132,868,675 (GRCm38)	I223T	probably damaging	Het
Tex21	A	G	12: 76,212,532 (GRCm38)	I329T	probably damaging	Het
Tmprss11b	T	C	5: 86,662,260 (GRCm38)	H287R	probably benign	Het
Trim30a	A	G	7: 104,411,534 (GRCm38)	L345P	probably benign	Het
Vmn1r62	G	A	7: 5,675,557 (GRCm38)	C79Y	probably damaging	Het
Vmn2r116	A	G	17: 23,387,377 (GRCm38)	K421R	probably benign	Het
Vwde	C	T	6: 13,205,021 (GRCm38)	S287N	probably damaging	Het
Xrcc4	A	T	13: 89,778,787 (GRCm38)	M300K	probably benign	Het
Zan	A	T	5: 137,429,485 (GRCm38)		probably null	Het
Zbtb7c	A	G	18: 76,137,342 (GRCm38)	D167G	probably benign	Het
Zfc3h1	A	G	10: 115,413,976 (GRCm38)	Y1165C	probably damaging	Het
Zfp326	T	A	5: 105,888,487 (GRCm38)	L88Q	probably damaging	Het
Zfp667	A	G	7: 6,304,974 (GRCm38)	T214A	probably benign	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
R4915:Cntnap2	UTSW	6	46,530,035 (GRCm38)	intron	probably benign
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
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'- GGTCTGAGTGCTCTCCAGATTC -3'
(R):5'- GACATCACCATCCTTAGCCG -3'

Sequencing Primer
(F):5'- CACACACACGCGTCCTTTGG -3'
(R):5'- CATCCTTAGCCGCCGGG -3'

Posted On

2018-07-23