Mutagenetix > Incidental Mutation

Incidental Mutation 'R0007:Cntnap2'

8120

Institutional Source

Beutler Lab

Gene Symbol

Cntnap2

Ensembl Gene

ENSMUSG00000039419

Gene Name

contactin associated protein-like 2

Synonyms

5430425M22Rik, Caspr2

MMRRC Submission

038302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45059357-47304213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45992073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 250 (N250H)

Ref Sequence

ENSEMBL: ENSMUSP00000110288 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114641
AA Change: N250H

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419
AA Change: N250H

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

Meta Mutation Damage Score

0.7778

Coding Region Coverage

1x: 75.9%
3x: 62.7%
10x: 33.8%
20x: 16.7%

Validation Efficiency

95% (54/57)

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,498,042 (GRCm38)		probably benign	Het
Cdh8	A	T	8: 99,230,456 (GRCm38)	L205*	probably null	Het
Col7a1	T	C	9: 108,961,403 (GRCm38)	V973A	unknown	Het
Denr	T	A	5: 123,924,814 (GRCm38)	Y127N	probably damaging	Het
Diaph3	C	A	14: 86,866,620 (GRCm38)	R776L	possibly damaging	Het
F2	T	C	2: 91,630,607 (GRCm38)	E260G	probably benign	Het
Il1rl1	C	T	1: 40,446,171 (GRCm38)	T261I	possibly damaging	Het
Lama3	T	A	18: 12,497,881 (GRCm38)		probably benign	Het
Map2k5	A	T	9: 63,293,724 (GRCm38)	I209N	probably damaging	Het
Myo1b	T	A	1: 51,776,254 (GRCm38)	R650S	probably damaging	Het
Nek10	T	A	14: 14,840,574 (GRCm38)	H153Q	probably benign	Het
Nlrp9a	T	C	7: 26,551,090 (GRCm38)		probably benign	Het
Pcnx4	T	A	12: 72,555,579 (GRCm38)	F281I	possibly damaging	Het
Pcsk5	C	A	19: 17,654,861 (GRCm38)	G314C	probably damaging	Het
Pkhd1l1	T	C	15: 44,574,398 (GRCm38)		probably benign	Het
Polr2b	T	C	5: 77,340,437 (GRCm38)	V828A	probably benign	Het
Slc44a4	G	A	17: 34,921,254 (GRCm38)	A60T	probably damaging	Het
Sparcl1	T	A	5: 104,087,080 (GRCm38)	Q523L	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213 (GRCm38)	H239Y	probably benign	Het
Trhr	T	C	15: 44,229,151 (GRCm38)		probably benign	Het
Trim16	A	G	11: 62,829,118 (GRCm38)	M84V	probably benign	Het
Trpm3	G	A	19: 22,987,529 (GRCm38)	A1453T	probably benign	Het
Zfp990	C	A	4: 145,537,438 (GRCm38)	H335Q	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
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
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

Posted On

2012-11-20