Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02127:Cntnap3'

280935

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 #

IGL02127

Quality Score

Status

Chromosome

Chromosomal Location

64883996-65051769 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 64946878 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,305 (GRCm39)	M661K	probably benign	Het
Arpin	G	A	7: 79,577,941 (GRCm39)	R163W	probably benign	Het
Atm	C	A	9: 53,399,283 (GRCm39)	D1573Y	probably damaging	Het
Avil	A	G	10: 126,847,695 (GRCm39)	N540S	probably benign	Het
Btnl6	T	C	17: 34,733,017 (GRCm39)	Q282R	probably benign	Het
Cacna2d3	T	C	14: 28,785,832 (GRCm39)		probably benign	Het
Cd300ld4	T	C	11: 114,913,545 (GRCm39)	N170S	probably benign	Het
Cgnl1	T	A	9: 71,633,135 (GRCm39)	N72I	probably damaging	Het
Col27a1	A	T	4: 63,143,379 (GRCm39)	T356S	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c69	G	T	19: 39,839,501 (GRCm39)	T374N	probably damaging	Het
Cyp2d26	T	C	15: 82,675,307 (GRCm39)	E349G	probably benign	Het
Dnah1	T	C	14: 31,026,885 (GRCm39)	E713G	probably benign	Het
Dnah7b	A	T	1: 46,179,035 (GRCm39)	T903S	probably benign	Het
Enthd1	T	C	15: 80,336,943 (GRCm39)	D497G	probably damaging	Het
Grk4	C	T	5: 34,867,530 (GRCm39)	T165I	probably benign	Het
Hmcn1	G	A	1: 150,598,358 (GRCm39)	S1648L	probably benign	Het
Ints11	A	G	4: 155,971,320 (GRCm39)	Y278C	probably damaging	Het
Kcnu1	T	C	8: 26,382,090 (GRCm39)	L480P	probably damaging	Het
Kif5c	G	A	2: 49,591,122 (GRCm39)		probably null	Het
Kifbp	C	T	10: 62,414,128 (GRCm39)	R10H	probably benign	Het
Klhl35	T	C	7: 99,120,888 (GRCm39)		probably benign	Het
Lemd3	A	T	10: 120,761,933 (GRCm39)	D807E	possibly damaging	Het
Lrrc37a	G	A	11: 103,395,365 (GRCm39)	T20I	probably benign	Het
Mab21l1	C	T	3: 55,691,016 (GRCm39)	A201V	probably benign	Het
Mab21l2	T	C	3: 86,454,124 (GRCm39)	D292G	possibly damaging	Het
Map3k21	T	C	8: 126,668,886 (GRCm39)	L824P	probably benign	Het
Myo5a	T	C	9: 75,120,263 (GRCm39)	V1687A	probably benign	Het
Myo5c	G	T	9: 75,208,184 (GRCm39)	W1639C	probably damaging	Het
Nfya	G	T	17: 48,700,283 (GRCm39)		probably benign	Het
Or4a76	A	G	2: 89,461,098 (GRCm39)	I48T	probably damaging	Het
Papolg	A	G	11: 23,820,870 (GRCm39)		probably benign	Het
Pcdh8	G	A	14: 80,006,686 (GRCm39)	R626C	probably damaging	Het
Pclo	T	C	5: 14,815,159 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,782,014 (GRCm39)		probably benign	Het
Polg	G	A	7: 79,107,915 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,377,479 (GRCm39)	V401A	probably damaging	Het
Scn9a	A	T	2: 66,325,170 (GRCm39)	I1317K	probably damaging	Het
St7	T	A	6: 17,844,968 (GRCm39)		probably benign	Het
Tdo2	C	T	3: 81,866,232 (GRCm39)	V344M	probably damaging	Het
Trmt1	T	C	8: 85,424,100 (GRCm39)	V400A	probably damaging	Het
Trrap	A	G	5: 144,753,243 (GRCm39)	N1856S	probably benign	Het
Ube3a	G	A	7: 58,925,789 (GRCm39)	G210D	probably benign	Het
Ubqln5	A	G	7: 103,778,689 (GRCm39)	V45A	probably damaging	Het
Wdpcp	T	A	11: 21,661,958 (GRCm39)	M410K	possibly damaging	Het
Xpa	G	A	4: 46,185,606 (GRCm39)	T124M	probably damaging	Het
Zpbp2	A	G	11: 98,446,367 (GRCm39)	E172G	probably 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
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
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