Mutagenetix > Incidental Mutation

Incidental Mutation 'R6761:Cntnap2'

531698

Institutional Source

Beutler Lab

Gene Symbol

Cntnap2

Ensembl Gene

ENSMUSG00000039419

Gene Name

contactin associated protein-like 2

Synonyms

5430425M22Rik, Caspr2

MMRRC Submission

044877-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6761 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45059357-47304213 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47049373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 44 (H44Q)

Ref Sequence

ENSEMBL: ENSMUSP00000142656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114641] [ENSMUST00000150737]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000114641
AA Change: H985Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110288
Gene: ENSMUSG00000039419
AA Change: H985Q

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: ENSMUST00000150737
AA Change: H44Q

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000142656
Gene: ENSMUSG00000039419
AA Change: H44Q

Domain	Start	End	E-Value	Type
EGF	25	61	1e-1	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (34/35)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,948 (GRCm38)	V61A	probably benign	Het
Actr3b	C	T	5: 25,825,139 (GRCm38)	S67F	probably damaging	Het
Ap3m1	T	C	14: 21,038,028 (GRCm38)	M107V	probably benign	Het
Ccdc27	C	T	4: 154,037,698 (GRCm38)	G241D	unknown	Het
Cit	T	G	5: 115,908,675 (GRCm38)	D382E	probably damaging	Het
Clec3b	G	T	9: 123,156,939 (GRCm38)	G134V	probably damaging	Het
Dst	T	C	1: 34,214,550 (GRCm38)	S4300P	probably damaging	Het
Ebna1bp2	C	T	4: 118,623,361 (GRCm38)	R134*	probably null	Het
Efcab14	T	C	4: 115,738,827 (GRCm38)	S57P	probably damaging	Het
Exosc2	T	C	2: 31,670,863 (GRCm38)		probably null	Het
Hfm1	T	C	5: 106,895,279 (GRCm38)	T630A	probably damaging	Het
Hkdc1	A	T	10: 62,408,698 (GRCm38)	I203N	possibly damaging	Het
Hltf	T	A	3: 20,083,832 (GRCm38)		probably null	Het
Igkv3-2	G	T	6: 70,698,517 (GRCm38)		probably benign	Het
Mslnl	A	G	17: 25,746,073 (GRCm38)	D471G	probably damaging	Het
Msmo1	A	G	8: 64,719,027 (GRCm38)	Y281H	probably benign	Het
Nid1	A	G	13: 13,482,035 (GRCm38)	T584A	probably benign	Het
Olfr908	A	G	9: 38,516,265 (GRCm38)	T78A	probably damaging	Het
Or52a24	C	T	7: 103,732,484 (GRCm38)	A186V	probably damaging	Het
Otoa	G	A	7: 121,121,950 (GRCm38)	G396D	probably damaging	Het
Prss45	G	T	9: 110,840,419 (GRCm38)	A197S	probably damaging	Het
Prxl2a	T	A	14: 40,994,621 (GRCm38)	H198L	probably damaging	Het
Rpap2	T	A	5: 107,620,238 (GRCm38)	I314N	probably benign	Het
Sash1	A	G	10: 8,744,522 (GRCm38)	M458T	probably damaging	Het
Slc44a5	A	G	3: 154,240,077 (GRCm38)		probably null	Het
Sorbs2	T	C	8: 45,772,614 (GRCm38)	S254P	probably damaging	Het
Sycp2	T	C	2: 178,374,351 (GRCm38)		probably null	Het
Tedc1	A	G	12: 113,161,714 (GRCm38)	D252G	probably damaging	Het
Uty	T	C	Y: 1,186,790 (GRCm38)	H145R	probably damaging	Homo
Vmn1r9	A	G	6: 57,071,306 (GRCm38)	Y122C	probably benign	Het
Wdfy4	T	A	14: 33,095,951 (GRCm38)	N1491Y	possibly damaging	Het
Wdr37	T	C	13: 8,849,648 (GRCm38)	T140A	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
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
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'- AAGCCCTTTGAACTCTGTGC -3'
(R):5'- GGTAGGAGAGGAGTTCACTCTACC -3'

Sequencing Primer
(F):5'- CTGTCATTCCCAGGTGGTGC -3'
(R):5'- GAGAGGAGTTCACTCTACCCTTAG -3'

Posted On

2018-08-29