Mutagenetix > Incidental Mutation

Incidental Mutation 'R9000:Cntnap2'

711102

Institutional Source

Beutler Lab

Gene Symbol

Cntnap2

Ensembl Gene

ENSMUSG00000039419

Gene Name

contactin associated protein-like 2

Synonyms

Caspr2, 5430425M22Rik

MMRRC Submission

068831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9000 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45036995-47278330 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 46461139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110288 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

90% (55/61)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,353,195 (GRCm39)	N749S	probably damaging	Het
Acsl5	T	C	19: 55,283,943 (GRCm39)	*684Q	probably null	Het
Actr5	A	T	2: 158,478,610 (GRCm39)	T487S	probably benign	Het
Adam18	T	A	8: 25,127,162 (GRCm39)	H478L	probably benign	Het
Adam5	A	T	8: 25,294,372 (GRCm39)		probably null	Het
Adamts3	T	C	5: 89,854,570 (GRCm39)	N475S	probably benign	Het
Akap9	G	A	5: 4,105,650 (GRCm39)	R2907H	probably benign	Het
Anapc1	A	G	2: 128,476,628 (GRCm39)	V1330A	probably damaging	Het
Arhgef37	A	T	18: 61,637,333 (GRCm39)	M443K	possibly damaging	Het
Atp13a1	T	A	8: 70,254,725 (GRCm39)	H753Q	probably damaging	Het
C2cd3	A	G	7: 100,065,281 (GRCm39)	H311R		Het
Cdh23	A	G	10: 60,140,277 (GRCm39)	Y3222H	possibly damaging	Het
Ces2f	A	G	8: 105,677,661 (GRCm39)	D222G	probably benign	Het
Cnot9	C	T	1: 74,561,544 (GRCm39)	R130C	probably benign	Het
Daam2	A	G	17: 49,769,197 (GRCm39)	L932P	probably damaging	Het
Dgki	T	C	6: 37,074,643 (GRCm39)		probably benign	Het
Dync1h1	A	C	12: 110,606,397 (GRCm39)	Q2489P	probably benign	Het
Elovl2	A	G	13: 41,338,810 (GRCm39)	L280S	probably benign	Het
Fat1	C	A	8: 45,497,587 (GRCm39)	Y4357*	probably null	Het
Fat3	T	A	9: 15,871,816 (GRCm39)	Q3525L	possibly damaging	Het
Fat3	T	C	9: 15,918,095 (GRCm39)	I1443V	probably benign	Het
Fzd1	A	G	5: 4,806,211 (GRCm39)	I457T	probably damaging	Het
Kcnq5	G	T	1: 21,557,483 (GRCm39)	F332L	probably damaging	Het
Meiob	A	G	17: 25,047,916 (GRCm39)		probably benign	Het
Mrgprb4	A	G	7: 47,848,769 (GRCm39)	L53P	probably damaging	Het
Myt1l	G	A	12: 29,901,740 (GRCm39)	V832I	unknown	Het
Nckap5l	G	A	15: 99,321,310 (GRCm39)	P1186S	probably damaging	Het
Ndufa4l2	A	T	10: 127,350,898 (GRCm39)	R16S	probably benign	Het
Nrg2	T	C	18: 36,151,682 (GRCm39)	Y620C	probably damaging	Het
Or4p4b-ps1	T	A	2: 88,454,525 (GRCm39)	*293R	probably null	Het
Or52a24	T	C	7: 103,381,672 (GRCm39)	S180P	probably damaging	Het
Pip4k2a	T	G	2: 18,877,240 (GRCm39)	Y165S	possibly damaging	Het
Plcd4	T	A	1: 74,601,024 (GRCm39)	C500*	probably null	Het
Plcl1	C	T	1: 55,736,990 (GRCm39)	P777L	probably damaging	Het
Pnliprp2	T	C	19: 58,762,555 (GRCm39)	Y387H	probably benign	Het
Prdm15	A	T	16: 97,595,470 (GRCm39)	D1119E	probably benign	Het
Prss51	T	C	14: 64,332,420 (GRCm39)	S36P	possibly damaging	Het
Prune1	A	G	3: 95,162,635 (GRCm39)	V346A	probably benign	Het
Saxo5	T	C	8: 3,526,083 (GRCm39)	S79P	possibly damaging	Het
Scn5a	T	C	9: 119,321,171 (GRCm39)	T1464A	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGG	GGGGCCCAGCTCAGCCACAGGG	7: 126,066,743 (GRCm39)		probably benign	Het
Sim1	T	G	10: 50,860,316 (GRCm39)	I726S	probably benign	Het
Sim1	T	G	10: 50,860,317 (GRCm39)	I726M	possibly damaging	Het
Slc38a4	G	A	15: 96,897,475 (GRCm39)	P447S	possibly damaging	Het
Slc5a12	A	G	2: 110,454,525 (GRCm39)	E362G	probably damaging	Het
Slc5a8	C	A	10: 88,762,089 (GRCm39)	N576K	probably benign	Het
Slc5a8	T	A	10: 88,762,090 (GRCm39)	Y577N	probably benign	Het
Snn	A	G	16: 10,890,322 (GRCm39)	E47G	probably damaging	Het
Snx19	T	C	9: 30,375,619 (GRCm39)	V207A	unknown	Het
Srcap	G	A	7: 127,130,943 (GRCm39)	V720I	possibly damaging	Het
Syn3	T	A	10: 85,893,489 (GRCm39)	R451S	unknown	Het
Tdrp	A	G	8: 14,003,989 (GRCm39)	V116A	probably benign	Het
Tef	G	A	15: 81,695,773 (GRCm39)	M1I	probably null	Het
Vmn1r232	T	C	17: 21,134,111 (GRCm39)	K163R	probably damaging	Het
Wrnip1	A	G	13: 32,986,711 (GRCm39)	E164G	probably damaging	Het
Zcchc14	T	G	8: 122,336,880 (GRCm39)	H178P	unknown	Het
Zfp37	T	G	4: 62,126,651 (GRCm39)	K69T	unknown	Het
Zfp947	A	G	17: 22,365,161 (GRCm39)	L171P	probably benign	Het

Other mutations in Cntnap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Cntnap2	APN	6	45,992,197 (GRCm39)	missense	possibly damaging	0.92
IGL00657:Cntnap2	APN	6	46,965,721 (GRCm39)	missense	probably damaging	0.98
IGL00846:Cntnap2	APN	6	47,169,972 (GRCm39)	missense	probably benign	0.12
IGL00851:Cntnap2	APN	6	46,461,006 (GRCm39)	missense	probably benign
IGL00857:Cntnap2	APN	6	47,026,358 (GRCm39)	missense	probably benign	0.00
IGL01290:Cntnap2	APN	6	45,992,399 (GRCm39)	missense	probably benign	0.06
IGL01445:Cntnap2	APN	6	47,169,947 (GRCm39)	missense	probably benign	0.14
IGL01468:Cntnap2	APN	6	47,248,305 (GRCm39)	nonsense	probably null
IGL01859:Cntnap2	APN	6	46,965,655 (GRCm39)	missense	probably damaging	1.00
IGL02092:Cntnap2	APN	6	46,211,137 (GRCm39)	missense	probably damaging	1.00
IGL02239:Cntnap2	APN	6	46,998,588 (GRCm39)	missense	probably damaging	0.99
IGL02508:Cntnap2	APN	6	46,211,254 (GRCm39)	missense	probably damaging	1.00
IGL02530:Cntnap2	APN	6	46,998,670 (GRCm39)	missense	possibly damaging	0.48
IGL03013:Cntnap2	APN	6	47,072,483 (GRCm39)	missense	possibly damaging	0.66
BB004:Cntnap2	UTSW	6	47,072,621 (GRCm39)	missense	possibly damaging	0.93
BB014:Cntnap2	UTSW	6	47,072,621 (GRCm39)	missense	possibly damaging	0.93
IGL02802:Cntnap2	UTSW	6	46,147,179 (GRCm39)	missense	probably damaging	1.00
R0001:Cntnap2	UTSW	6	46,507,105 (GRCm39)	missense	probably benign	0.04
R0007:Cntnap2	UTSW	6	45,969,007 (GRCm39)	missense	possibly damaging	0.95
R0007:Cntnap2	UTSW	6	45,969,007 (GRCm39)	missense	possibly damaging	0.95
R0043:Cntnap2	UTSW	6	46,460,917 (GRCm39)	missense	probably benign	0.01
R0118:Cntnap2	UTSW	6	45,037,326 (GRCm39)	splice site	probably null
R0352:Cntnap2	UTSW	6	45,969,018 (GRCm39)	splice site	probably null
R0389:Cntnap2	UTSW	6	45,986,571 (GRCm39)	missense	probably benign	0.06
R0482:Cntnap2	UTSW	6	45,692,750 (GRCm39)	missense	probably benign	0.00
R0530:Cntnap2	UTSW	6	46,506,839 (GRCm39)	nonsense	probably null
R0611:Cntnap2	UTSW	6	47,072,483 (GRCm39)	missense	possibly damaging	0.66
R0630:Cntnap2	UTSW	6	46,965,694 (GRCm39)	missense	probably damaging	0.99
R0636:Cntnap2	UTSW	6	47,273,642 (GRCm39)	splice site	probably benign
R0976:Cntnap2	UTSW	6	47,248,164 (GRCm39)	missense	probably damaging	1.00
R1195:Cntnap2	UTSW	6	46,460,902 (GRCm39)	missense	probably benign
R1195:Cntnap2	UTSW	6	46,460,902 (GRCm39)	missense	probably benign
R1195:Cntnap2	UTSW	6	46,460,902 (GRCm39)	missense	probably benign
R1387:Cntnap2	UTSW	6	47,084,848 (GRCm39)	missense	probably benign	0.19
R1524:Cntnap2	UTSW	6	46,507,613 (GRCm39)	missense	probably damaging	1.00
R1609:Cntnap2	UTSW	6	45,992,264 (GRCm39)	missense	probably benign	0.13
R1716:Cntnap2	UTSW	6	47,084,826 (GRCm39)	nonsense	probably null
R1757:Cntnap2	UTSW	6	46,736,763 (GRCm39)	missense	probably damaging	1.00
R1809:Cntnap2	UTSW	6	46,965,609 (GRCm39)	missense	probably damaging	0.99
R1813:Cntnap2	UTSW	6	46,507,567 (GRCm39)	missense	probably damaging	1.00
R2103:Cntnap2	UTSW	6	47,275,522 (GRCm39)	missense	probably damaging	1.00
R2133:Cntnap2	UTSW	6	47,275,379 (GRCm39)	missense	probably damaging	1.00
R3037:Cntnap2	UTSW	6	45,992,200 (GRCm39)	missense	possibly damaging	0.57
R3899:Cntnap2	UTSW	6	45,968,837 (GRCm39)	missense	probably benign	0.00
R4027:Cntnap2	UTSW	6	46,833,062 (GRCm39)	missense	probably benign
R4030:Cntnap2	UTSW	6	46,833,062 (GRCm39)	missense	probably benign
R4237:Cntnap2	UTSW	6	46,507,324 (GRCm39)	intron	probably benign
R4445:Cntnap2	UTSW	6	46,736,785 (GRCm39)	missense	probably benign	0.01
R4737:Cntnap2	UTSW	6	45,037,251 (GRCm39)	missense	possibly damaging	0.65
R4740:Cntnap2	UTSW	6	45,037,251 (GRCm39)	missense	possibly damaging	0.65
R4915:Cntnap2	UTSW	6	46,506,969 (GRCm39)	intron	probably benign
R4918:Cntnap2	UTSW	6	46,506,969 (GRCm39)	intron	probably benign
R4999:Cntnap2	UTSW	6	45,897,768 (GRCm39)	missense	probably damaging	0.96
R5373:Cntnap2	UTSW	6	47,084,903 (GRCm39)	missense	probably benign	0.00
R5374:Cntnap2	UTSW	6	47,084,903 (GRCm39)	missense	probably benign	0.00
R5742:Cntnap2	UTSW	6	45,897,860 (GRCm39)	nonsense	probably null
R5748:Cntnap2	UTSW	6	45,692,818 (GRCm39)	missense	probably damaging	1.00
R5765:Cntnap2	UTSW	6	46,506,749 (GRCm39)	intron	probably benign
R6118:Cntnap2	UTSW	6	47,170,011 (GRCm39)	missense	possibly damaging	0.81
R6181:Cntnap2	UTSW	6	46,736,742 (GRCm39)	missense	probably damaging	1.00
R6189:Cntnap2	UTSW	6	47,248,232 (GRCm39)	missense	probably damaging	1.00
R6262:Cntnap2	UTSW	6	45,037,046 (GRCm39)	splice site	probably null
R6385:Cntnap2	UTSW	6	46,833,114 (GRCm39)	missense	probably benign	0.00
R6555:Cntnap2	UTSW	6	46,736,694 (GRCm39)	missense	probably damaging	1.00
R6577:Cntnap2	UTSW	6	46,147,206 (GRCm39)	missense	probably benign	0.25
R6610:Cntnap2	UTSW	6	45,992,191 (GRCm39)	missense	probably benign	0.08
R6761:Cntnap2	UTSW	6	47,026,307 (GRCm39)	missense	probably benign	0.03
R7125:Cntnap2	UTSW	6	46,965,580 (GRCm39)	missense	probably benign	0.12
R7329:Cntnap2	UTSW	6	47,248,205 (GRCm39)	missense	possibly damaging	0.94
R7502:Cntnap2	UTSW	6	46,460,963 (GRCm39)	missense	possibly damaging	0.83
R7927:Cntnap2	UTSW	6	47,072,621 (GRCm39)	missense	possibly damaging	0.93
R8057:Cntnap2	UTSW	6	46,324,079 (GRCm39)	missense	probably damaging	0.98
R8261:Cntnap2	UTSW	6	47,072,627 (GRCm39)	missense	probably damaging	0.98
R8356:Cntnap2	UTSW	6	47,026,307 (GRCm39)	missense	probably benign	0.03
R8479:Cntnap2	UTSW	6	46,736,707 (GRCm39)	missense	probably benign	0.14
R8503:Cntnap2	UTSW	6	45,968,975 (GRCm39)	missense	probably damaging	1.00
R8698:Cntnap2	UTSW	6	47,026,156 (GRCm39)	missense	probably damaging	1.00
R8719:Cntnap2	UTSW	6	45,978,161 (GRCm39)	missense	probably damaging	1.00
R8816:Cntnap2	UTSW	6	46,833,076 (GRCm39)	missense	possibly damaging	0.72
R8987:Cntnap2	UTSW	6	46,460,983 (GRCm39)	missense	probably benign	0.01
R9209:Cntnap2	UTSW	6	47,026,183 (GRCm39)	missense	probably damaging	1.00
R9253:Cntnap2	UTSW	6	45,978,112 (GRCm39)	missense	probably benign	0.00
R9310:Cntnap2	UTSW	6	45,978,281 (GRCm39)	missense	probably damaging	1.00
R9395:Cntnap2	UTSW	6	45,978,244 (GRCm39)	missense	probably damaging	0.98
R9462:Cntnap2	UTSW	6	46,211,217 (GRCm39)	missense	probably damaging	0.99
R9526:Cntnap2	UTSW	6	45,992,165 (GRCm39)	missense	probably damaging	1.00
R9600:Cntnap2	UTSW	6	45,969,009 (GRCm39)	missense	probably damaging	0.98
R9621:Cntnap2	UTSW	6	46,965,726 (GRCm39)	missense	probably damaging	0.98
R9738:Cntnap2	UTSW	6	45,992,373 (GRCm39)	frame shift	probably null
R9745:Cntnap2	UTSW	6	46,211,100 (GRCm39)	missense	probably benign	0.01
R9775:Cntnap2	UTSW	6	47,026,261 (GRCm39)	missense	probably damaging	1.00
RF022:Cntnap2	UTSW	6	46,998,599 (GRCm39)	missense	probably damaging	1.00
X0018:Cntnap2	UTSW	6	45,986,452 (GRCm39)	missense	possibly damaging	0.53
X0063:Cntnap2	UTSW	6	46,998,688 (GRCm39)	missense	possibly damaging	0.92
X0066:Cntnap2	UTSW	6	46,211,179 (GRCm39)	missense	probably benign	0.03
Z1176:Cntnap2	UTSW	6	47,248,082 (GRCm39)	missense	probably benign	0.00
Z1177:Cntnap2	UTSW	6	45,992,233 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GTGCCTCCATGGACCAGATTAG -3'
(R):5'- GGCAACTGCTTGATAAACGAG -3'

Sequencing Primer
(F):5'- GATTAGTGCCATCACCAGTAGCG -3'
(R):5'- TGATAAACGAGCATTAACAGCATAC -3'

Posted On

2022-04-27