Mutagenetix > Incidental Mutation

Incidental Mutation 'R8503:Cntnap2'

655411

Institutional Source

Beutler Lab

Gene Symbol

Cntnap2

Ensembl Gene

ENSMUSG00000039419

Gene Name

contactin associated protein-like 2

Synonyms

5430425M22Rik, Caspr2

MMRRC Submission

067943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8503 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45059357-47304213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45992041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 239 (E239G)

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: E239G

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

SMART Domains

Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419
AA Change: E239G

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd2	C	A	3: 108,080,116 (GRCm38)	V134L	probably benign	Het
Arsk	A	T	13: 76,091,711 (GRCm38)	Y124*	probably null	Het
Atm	A	G	9: 53,488,052 (GRCm38)	Y1550H	probably damaging	Het
Atp10b	A	G	11: 43,222,239 (GRCm38)	T871A	possibly damaging	Het
Birc6	T	A	17: 74,692,244 (GRCm38)	Y4656N	probably damaging	Het
Bpifa3	C	A	2: 154,130,630 (GRCm38)	A32D	probably damaging	Het
Casp12	T	C	9: 5,346,739 (GRCm38)		probably benign	Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Cped1	C	T	6: 22,145,565 (GRCm38)	L641F	probably benign	Het
Cr2	G	A	1: 195,163,542 (GRCm38)	P35L	probably benign	Het
Cyp4f15	T	A	17: 32,695,364 (GRCm38)	C211S	probably damaging	Het
Defa29	T	A	8: 21,325,887 (GRCm38)		probably benign	Het
Eif2b5	T	C	16: 20,498,980 (GRCm38)	S23P	probably benign	Het
Fam151a	T	C	4: 106,746,180 (GRCm38)	F313L	possibly damaging	Het
Fggy	T	A	4: 95,902,058 (GRCm38)		probably benign	Het
Gldc	C	T	19: 30,099,854 (GRCm38)	V973I	probably benign	Het
Glipr1l2	A	C	10: 112,107,170 (GRCm38)	E310A	probably benign	Het
Gpr85	G	A	6: 13,836,830 (GRCm38)	T25I	probably benign	Het
Grin2a	T	A	16: 9,663,549 (GRCm38)	I463F	probably damaging	Het
Hoxd10	T	C	2: 74,692,380 (GRCm38)	L134P	probably benign	Het
Kif3b	T	G	2: 153,320,904 (GRCm38)		probably null	Het
Klra17	T	C	6: 129,868,814 (GRCm38)	I146V	probably benign	Het
Lhpp	A	G	7: 132,705,677 (GRCm38)	T268A	probably benign	Het
Mab21l1	G	T	3: 55,783,183 (GRCm38)	E64*	probably null	Het
Nipal3	C	T	4: 135,479,581 (GRCm38)	A101T	probably damaging	Het
Nlgn1	A	T	3: 26,133,373 (GRCm38)	I121N	probably damaging	Het
Nuggc	G	A	14: 65,641,348 (GRCm38)		probably null	Het
Obscn	T	C	11: 59,000,617 (GRCm38)	M7030V	unknown	Het
Or10g1b	A	G	14: 52,389,897 (GRCm38)	I292T	probably damaging	Het
Or12e1	T	A	2: 87,192,309 (GRCm38)	Y207*	probably null	Het
Or6c211	T	C	10: 129,669,643 (GRCm38)	N292S	probably damaging	Het
Otogl	A	G	10: 107,892,126 (GRCm38)	C245R	probably damaging	Het
Papolg	C	T	11: 23,870,292 (GRCm38)	V433I	probably benign	Het
Pcdh12	A	G	18: 38,282,521 (GRCm38)	V517A	possibly damaging	Het
Pds5b	A	G	5: 150,716,507 (GRCm38)	E29G	possibly damaging	Het
Phlpp1	T	C	1: 106,392,289 (GRCm38)	I1338T	probably benign	Het
Pom121	T	A	5: 135,381,544 (GRCm38)	S920C	unknown	Het
Prdm16	A	G	4: 154,341,552 (GRCm38)	V592A	probably benign	Het
R3hdm2	T	A	10: 127,492,612 (GRCm38)	N734K	possibly damaging	Het
Rpa2	G	C	4: 132,773,869 (GRCm38)	V126L	probably benign	Het
Sash1	A	T	10: 8,780,513 (GRCm38)		probably benign	Het
Shmt2	C	T	10: 127,518,920 (GRCm38)	V299I	probably benign	Het
Sp3	T	A	2: 72,938,301 (GRCm38)	Q706L	probably benign	Het
Sycp2l	A	C	13: 41,153,476 (GRCm38)	D125A		Het
Tmem169	A	G	1: 72,301,007 (GRCm38)	T199A	probably damaging	Het
Tnip1	A	G	11: 54,936,465 (GRCm38)	M157T	probably benign	Het
Tsbp1	T	C	17: 34,448,126 (GRCm38)		probably benign	Het
Tubb3	A	G	8: 123,421,029 (GRCm38)	S234G	probably damaging	Het
Ubtd2	A	G	11: 32,499,267 (GRCm38)	K38R	possibly damaging	Het
Unc13a	A	C	8: 71,645,761 (GRCm38)	F1127V	possibly damaging	Het
Wdpcp	G	A	11: 21,721,205 (GRCm38)	W482*	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
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
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
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'- TCTCAGGGGCTGACGTTATC -3'
(R):5'- CGATAGCAGCTTTTCTCTGTTAAGAAG -3'

Sequencing Primer
(F):5'- ATCAACTTTGATGGCCACGG -3'
(R):5'- ACATGTCTGCTGGTCATAAAGGTCAG -3'

Posted On

2020-10-20