Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02456:Cntnap3'

294194

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 #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

64883996-65051769 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 64946872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000089140 (fasta)

Gene Model

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

AlphaFold

E9PY62

Predicted Effect

probably benign
Transcript: ENSMUST00000091554

SMART Domains

Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,302,584 (GRCm39)	Y174*	probably null	Het
Apc	C	A	18: 34,446,935 (GRCm39)	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578 (GRCm39)	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,159,458 (GRCm39)	F79I	probably damaging	Het
Brip1	G	T	11: 85,955,925 (GRCm39)	L863I	possibly damaging	Het
Cbx4	T	A	11: 118,972,938 (GRCm39)	K146*	probably null	Het
Ces1a	C	T	8: 93,766,126 (GRCm39)	V163I	possibly damaging	Het
Ces5a	C	T	8: 94,255,272 (GRCm39)		probably benign	Het
Cfhr1	A	C	1: 139,484,131 (GRCm39)	N128K	possibly damaging	Het
Clcn3	T	C	8: 61,394,391 (GRCm39)	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,068,955 (GRCm39)	I166S	probably benign	Het
Cntnap5c	T	A	17: 58,714,739 (GRCm39)		probably benign	Het
Ddx23	A	T	15: 98,545,430 (GRCm39)	V626E	probably damaging	Het
Dele1	T	A	18: 38,394,177 (GRCm39)	L458Q	probably damaging	Het
Gcm2	T	C	13: 41,256,477 (GRCm39)	Y424C	probably benign	Het
Gm9964	A	G	11: 79,187,196 (GRCm39)	F84L	probably damaging	Het
Grn	T	A	11: 102,326,930 (GRCm39)	D509E	probably benign	Het
Iho1	G	T	9: 108,283,820 (GRCm39)	T208K	probably benign	Het
Kdm5c	G	A	X: 151,029,314 (GRCm39)	D343N	probably damaging	Het
Ly75	C	T	2: 60,124,125 (GRCm39)	M1717I	probably benign	Het
Map1a	C	A	2: 121,129,134 (GRCm39)	P133T	probably damaging	Het
Mpp2	C	A	11: 101,950,199 (GRCm39)	A552S	possibly damaging	Het
Mtr	T	C	13: 12,213,980 (GRCm39)	I897M	probably damaging	Het
Npas3	A	T	12: 54,095,550 (GRCm39)	I337F	probably damaging	Het
Nup85	T	C	11: 115,472,691 (GRCm39)		probably benign	Het
Or10a49	A	G	7: 108,468,257 (GRCm39)	Y35H	probably benign	Het
Or10al2	T	A	17: 37,983,340 (GRCm39)	M142K	possibly damaging	Het
Or2t46	T	A	11: 58,472,024 (GRCm39)	L118H	possibly damaging	Het
Or51l4	T	A	7: 103,404,700 (GRCm39)	I31F	possibly damaging	Het
Or56a5	T	C	7: 104,792,966 (GRCm39)	N178S	probably damaging	Het
Pdia4	A	T	6: 47,780,429 (GRCm39)	D301E	probably benign	Het
Phf2	C	A	13: 48,982,322 (GRCm39)	G134C	unknown	Het
Polr2h	T	A	16: 20,539,352 (GRCm39)	L76H	probably damaging	Het
Rbm47	G	A	5: 66,184,364 (GRCm39)	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,507,837 (GRCm39)	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,447,179 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,227,991 (GRCm39)	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,101,372 (GRCm39)	H46P	probably damaging	Het
Tbck	A	G	3: 132,440,475 (GRCm39)		probably benign	Het
Tmtc4	A	T	14: 123,163,374 (GRCm39)		probably null	Het
Ttc13	T	C	8: 125,417,100 (GRCm39)		probably null	Het
Ttc17	T	C	2: 94,193,130 (GRCm39)		probably benign	Het
Vmn1r121	T	A	7: 20,832,438 (GRCm39)	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,860,258 (GRCm39)	S2825P	probably damaging	Het
Zan	A	C	5: 137,445,106 (GRCm39)	S1718A	unknown	Het
Zfp39	G	T	11: 58,793,626 (GRCm39)	Y37*	probably null	Het
Zfp407	T	C	18: 84,576,766 (GRCm39)	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,687,035 (GRCm39)	D801E	possibly damaging	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
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
IGL03188:Cntnap3	APN	13	64,929,559 (GRCm39)	missense	probably damaging	0.97
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

2015-04-16