Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03188:Cntnap3'

412530

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cntnap3

Ensembl Gene

ENSMUSG00000033063

Gene Name

contactin associated protein-like 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL03188

Quality Score

Status

Chromosome

Chromosomal Location

64883996-65051769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64929559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 547 (S547P)

Ref Sequence

ENSEMBL: ENSMUSP00000089140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091554]

AlphaFold

E9PY62

Predicted Effect

probably damaging
Transcript: ENSMUST00000091554
AA Change: S547P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: S547P

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
FA58C	33	180	4.88e-17	SMART
LamG	207	345	1.47e-11	SMART
LamG	394	525	1.43e-23	SMART
EGF	553	587	1.33e-1	SMART
FBG	590	775	6.76e-1	SMART
LamG	815	942	1.89e-32	SMART
EGF_like	963	999	6.28e1	SMART
LamG	1040	1178	9.46e-15	SMART
transmembrane domain	1245	1267	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the NCP family of cell-recognition molecules. This family represents a distinct subgroup of the neurexins. NCP proteins mediate neuron-glial interactions in vertebrates and glial-glial contact in invertebrates. The protein encoded by this gene may play a role in cell recognition within the nervous system. Alternatively spliced transcript variants encoding different isoforms have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 114,425,656 (GRCm39)	C1202F	probably damaging	Het
Ago2	C	T	15: 72,995,182 (GRCm39)	V466I	probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aptx	A	T	4: 40,695,143 (GRCm39)		probably null	Het
Aurka	A	T	2: 172,205,688 (GRCm39)	D123E	possibly damaging	Het
Btaf1	T	C	19: 36,926,508 (GRCm39)	I60T	possibly damaging	Het
Ccdc154	A	T	17: 25,383,067 (GRCm39)		probably null	Het
Cct5	T	C	15: 31,598,148 (GRCm39)	N55S	probably benign	Het
Efl1	T	A	7: 82,320,909 (GRCm39)	I114N	probably damaging	Het
Gprin1	T	C	13: 54,886,465 (GRCm39)	D603G	probably benign	Het
Il16	A	G	7: 83,337,371 (GRCm39)	S115P	probably benign	Het
Kalrn	C	A	16: 34,134,562 (GRCm39)	V401L	probably benign	Het
Kcnq4	T	A	4: 120,561,623 (GRCm39)	K482I	possibly damaging	Het
L3mbtl3	C	T	10: 26,218,515 (GRCm39)	A114T	unknown	Het
Lig1	G	A	7: 13,045,032 (GRCm39)		probably benign	Het
Lnx1	G	A	5: 74,780,924 (GRCm39)	T199M	probably damaging	Het
Mapk13	A	G	17: 28,995,557 (GRCm39)		probably benign	Het
Mfsd2b	A	T	12: 4,916,538 (GRCm39)		probably null	Het
Mrpl3	A	G	9: 104,934,264 (GRCm39)	D137G	probably benign	Het
Muc15	A	G	2: 110,562,044 (GRCm39)	D160G	probably benign	Het
Myh4	T	C	11: 67,137,369 (GRCm39)		probably null	Het
Nipa2	T	G	7: 55,582,680 (GRCm39)	N355T	probably benign	Het
Or11h4	A	T	14: 50,974,315 (GRCm39)	Y101*	probably null	Het
Or2v2	T	C	11: 49,004,536 (GRCm39)	N6D	probably damaging	Het
Or51a43	A	G	7: 103,717,945 (GRCm39)	S98P	possibly damaging	Het
Or5p60	T	C	7: 107,723,841 (GRCm39)	T210A	probably benign	Het
Pfkm	G	T	15: 98,021,124 (GRCm39)		probably null	Het
Ppip5k1	A	G	2: 121,157,327 (GRCm39)		probably benign	Het
Ppp1r18	A	G	17: 36,178,857 (GRCm39)	D244G	possibly damaging	Het
Rimoc1	A	G	15: 4,018,187 (GRCm39)	Y163H	probably damaging	Het
Scn2a	T	C	2: 65,501,997 (GRCm39)	S107P	probably damaging	Het
Scn5a	A	T	9: 119,351,632 (GRCm39)	I783N	probably damaging	Het
Snx1	A	G	9: 66,001,734 (GRCm39)	W307R	probably damaging	Het
Spata31g1	A	G	4: 42,971,225 (GRCm39)	Y186C	possibly damaging	Het
Stk11ip	G	A	1: 75,511,079 (GRCm39)	V928M	probably benign	Het
Tgm4	A	G	9: 122,874,101 (GRCm39)	M114V	probably null	Het
Trpm2	G	A	10: 77,754,743 (GRCm39)	R1248C	probably benign	Het
Txnrd1	T	C	10: 82,720,880 (GRCm39)	I347T	possibly damaging	Het
Unc5a	A	G	13: 55,147,316 (GRCm39)	S106G	probably damaging	Het
Vmn2r85	T	C	10: 130,254,612 (GRCm39)	M691V	probably benign	Het
Zfp58	T	A	13: 67,639,528 (GRCm39)	Q321L	probably benign	Het

Other mutations in Cntnap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cntnap3	APN	13	64,920,545 (GRCm39)	missense	probably damaging	1.00
IGL00782:Cntnap3	APN	13	64,893,619 (GRCm39)	splice site	probably benign
IGL00976:Cntnap3	APN	13	64,942,166 (GRCm39)	missense	probably damaging	1.00
IGL01319:Cntnap3	APN	13	64,935,651 (GRCm39)	missense	probably damaging	1.00
IGL01610:Cntnap3	APN	13	64,905,115 (GRCm39)	missense	probably damaging	0.98
IGL01861:Cntnap3	APN	13	64,946,922 (GRCm39)	missense	probably damaging	1.00
IGL02127:Cntnap3	APN	13	64,946,878 (GRCm39)	splice site	probably benign
IGL02133:Cntnap3	APN	13	64,899,487 (GRCm39)	splice site	probably benign
IGL02251:Cntnap3	APN	13	64,909,850 (GRCm39)	missense	probably damaging	1.00
IGL02272:Cntnap3	APN	13	64,905,225 (GRCm39)	missense	probably damaging	1.00
IGL02370:Cntnap3	APN	13	64,899,565 (GRCm39)	missense	probably benign
IGL02456:Cntnap3	APN	13	64,946,872 (GRCm39)	splice site	probably benign
IGL02589:Cntnap3	APN	13	64,940,244 (GRCm39)	missense	probably benign	0.08
IGL02695:Cntnap3	APN	13	64,919,946 (GRCm39)	missense	probably benign	0.01
IGL02850:Cntnap3	APN	13	64,905,223 (GRCm39)	missense	probably damaging	1.00
IGL03038:Cntnap3	APN	13	64,888,839 (GRCm39)	missense	possibly damaging	0.50
IGL03327:Cntnap3	APN	13	65,035,582 (GRCm39)	nonsense	probably null
PIT4480001:Cntnap3	UTSW	13	64,905,024 (GRCm39)	missense	probably damaging	1.00
R0309:Cntnap3	UTSW	13	64,905,250 (GRCm39)	splice site	probably benign
R0422:Cntnap3	UTSW	13	64,905,099 (GRCm39)	missense	probably damaging	0.96
R0463:Cntnap3	UTSW	13	64,926,690 (GRCm39)	missense	probably damaging	1.00
R0491:Cntnap3	UTSW	13	64,909,859 (GRCm39)	missense	probably benign	0.01
R0499:Cntnap3	UTSW	13	65,006,492 (GRCm39)	missense	probably benign	0.33
R0550:Cntnap3	UTSW	13	64,909,814 (GRCm39)	missense	possibly damaging	0.86
R0613:Cntnap3	UTSW	13	64,906,228 (GRCm39)	missense	probably damaging	1.00
R0666:Cntnap3	UTSW	13	64,905,211 (GRCm39)	missense	probably damaging	1.00
R0840:Cntnap3	UTSW	13	64,935,724 (GRCm39)	missense	possibly damaging	0.94
R1577:Cntnap3	UTSW	13	64,906,104 (GRCm39)	missense	probably damaging	1.00
R1716:Cntnap3	UTSW	13	64,909,816 (GRCm39)	missense	probably damaging	1.00
R1732:Cntnap3	UTSW	13	64,888,626 (GRCm39)	critical splice donor site	probably null
R1739:Cntnap3	UTSW	13	64,888,406 (GRCm39)	missense	probably benign	0.17
R1905:Cntnap3	UTSW	13	65,051,578 (GRCm39)	missense	probably benign	0.04
R1988:Cntnap3	UTSW	13	64,906,204 (GRCm39)	missense	probably damaging	1.00
R2086:Cntnap3	UTSW	13	64,942,076 (GRCm39)	missense	possibly damaging	0.76
R3732:Cntnap3	UTSW	13	64,888,813 (GRCm39)	missense	possibly damaging	0.73
R3808:Cntnap3	UTSW	13	64,929,618 (GRCm39)	missense	probably damaging	0.96
R3809:Cntnap3	UTSW	13	64,929,618 (GRCm39)	missense	probably damaging	0.96
R4384:Cntnap3	UTSW	13	64,896,274 (GRCm39)	missense	probably damaging	1.00
R4433:Cntnap3	UTSW	13	64,926,667 (GRCm39)	missense	possibly damaging	0.92
R4631:Cntnap3	UTSW	13	64,926,697 (GRCm39)	missense	probably benign	0.04
R4645:Cntnap3	UTSW	13	64,926,602 (GRCm39)	critical splice donor site	probably null
R4702:Cntnap3	UTSW	13	64,926,676 (GRCm39)	missense	probably benign	0.17
R4876:Cntnap3	UTSW	13	64,935,520 (GRCm39)	missense	probably benign	0.00
R4994:Cntnap3	UTSW	13	64,909,798 (GRCm39)	missense	possibly damaging	0.55
R5043:Cntnap3	UTSW	13	64,942,162 (GRCm39)	missense	probably damaging	1.00
R5214:Cntnap3	UTSW	13	64,909,824 (GRCm39)	missense	probably damaging	1.00
R5403:Cntnap3	UTSW	13	64,909,792 (GRCm39)	missense	possibly damaging	0.90
R5571:Cntnap3	UTSW	13	65,051,572 (GRCm39)	missense	probably damaging	0.98
R5587:Cntnap3	UTSW	13	64,894,552 (GRCm39)	missense	probably damaging	1.00
R5695:Cntnap3	UTSW	13	64,935,769 (GRCm39)	missense	probably damaging	0.99
R5834:Cntnap3	UTSW	13	64,896,391 (GRCm39)	missense	probably benign	0.07
R5892:Cntnap3	UTSW	13	64,946,994 (GRCm39)	missense	probably damaging	1.00
R5950:Cntnap3	UTSW	13	64,935,583 (GRCm39)	missense	probably damaging	1.00
R6526:Cntnap3	UTSW	13	64,929,702 (GRCm39)	missense	possibly damaging	0.96
R6954:Cntnap3	UTSW	13	64,896,373 (GRCm39)	missense	probably benign	0.00
R7138:Cntnap3	UTSW	13	64,929,539 (GRCm39)	critical splice donor site	probably null
R7355:Cntnap3	UTSW	13	64,919,776 (GRCm39)	missense	probably benign
R7425:Cntnap3	UTSW	13	64,906,066 (GRCm39)	missense	probably damaging	1.00
R7521:Cntnap3	UTSW	13	64,919,815 (GRCm39)	missense	probably benign	0.22
R7719:Cntnap3	UTSW	13	64,920,591 (GRCm39)	nonsense	probably null
R7810:Cntnap3	UTSW	13	64,941,122 (GRCm39)	missense	possibly damaging	0.73
R7871:Cntnap3	UTSW	13	65,051,587 (GRCm39)	missense	probably benign	0.00
R8259:Cntnap3	UTSW	13	64,935,681 (GRCm39)	missense	probably damaging	0.99
R8415:Cntnap3	UTSW	13	64,886,479 (GRCm39)	missense	probably benign	0.31
R8491:Cntnap3	UTSW	13	64,933,157 (GRCm39)	missense	probably damaging	1.00
R9086:Cntnap3	UTSW	13	64,929,573 (GRCm39)	missense	probably damaging	1.00
R9087:Cntnap3	UTSW	13	64,899,532 (GRCm39)	missense	probably damaging	0.96
R9398:Cntnap3	UTSW	13	65,051,648 (GRCm39)	missense	probably benign	0.41
R9475:Cntnap3	UTSW	13	64,946,949 (GRCm39)	missense	probably damaging	1.00
R9625:Cntnap3	UTSW	13	65,006,579 (GRCm39)	missense	probably damaging	1.00
R9679:Cntnap3	UTSW	13	64,899,562 (GRCm39)	missense	probably damaging	1.00
Z1176:Cntnap3	UTSW	13	64,940,202 (GRCm39)	missense	probably damaging	0.98
Z1176:Cntnap3	UTSW	13	64,888,686 (GRCm39)	frame shift	probably null
Z1177:Cntnap3	UTSW	13	64,929,706 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02