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: 0.073) question?

Stock #

IGL02127

Quality Score

Status

Chromosome

Chromosomal Location

64736182-64903955 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 64799064 bp (GRCm38)

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: 28,897,880	M661K	probably benign	Het
Arpin	G	A	7: 79,928,193	R163W	probably benign	Het
Atm	C	A	9: 53,487,983	D1573Y	probably damaging	Het
Avil	A	G	10: 127,011,826	N540S	probably benign	Het
Btnl6	T	C	17: 34,514,043	Q282R	probably benign	Het
Cacna2d3	T	C	14: 29,063,875		probably benign	Het
Cd300ld4	T	C	11: 115,022,719	N170S	probably benign	Het
Cgnl1	T	A	9: 71,725,853	N72I	probably damaging	Het
Col27a1	A	T	4: 63,225,142	T356S	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2c69	G	T	19: 39,851,057	T374N	probably damaging	Het
Cyp2d26	T	C	15: 82,791,106	E349G	probably benign	Het
Dnah1	T	C	14: 31,304,928	E713G	probably benign	Het
Dnah7b	A	T	1: 46,139,875	T903S	probably benign	Het
Enthd1	T	C	15: 80,452,742	D497G	probably damaging	Het
Grk4	C	T	5: 34,710,186	T165I	probably benign	Het
Hmcn1	G	A	1: 150,722,607	S1648L	probably benign	Het
Ints11	A	G	4: 155,886,863	Y278C	probably damaging	Het
Kcnu1	T	C	8: 25,892,062	L480P	probably damaging	Het
Kif1bp	C	T	10: 62,578,349	R10H	probably benign	Het
Kif5c	G	A	2: 49,701,110		probably null	Het
Klhl35	T	C	7: 99,471,681		probably benign	Het
Lemd3	A	T	10: 120,926,028	D807E	possibly damaging	Het
Lrrc37a	G	A	11: 103,504,539	T20I	probably benign	Het
Mab21l1	C	T	3: 55,783,595	A201V	probably benign	Het
Mab21l2	T	C	3: 86,546,817	D292G	possibly damaging	Het
Map3k21	T	C	8: 125,942,147	L824P	probably benign	Het
Myo5a	T	C	9: 75,212,981	V1687A	probably benign	Het
Myo5c	G	T	9: 75,300,902	W1639C	probably damaging	Het
Nfya	G	T	17: 48,393,255		probably benign	Het
Olfr1249	A	G	2: 89,630,754	I48T	probably damaging	Het
Papolg	A	G	11: 23,870,870		probably benign	Het
Pcdh8	G	A	14: 79,769,246	R626C	probably damaging	Het
Pclo	T	C	5: 14,765,145		probably benign	Het
Pogz	T	C	3: 94,874,703		probably benign	Het
Polg	G	A	7: 79,458,167		probably benign	Het
Scn9a	A	T	2: 66,494,826	I1317K	probably damaging	Het
Scn9a	A	G	2: 66,547,135	V401A	probably damaging	Het
St7	T	A	6: 17,844,969		probably benign	Het
Tdo2	C	T	3: 81,958,925	V344M	probably damaging	Het
Trmt1	T	C	8: 84,697,471	V400A	probably damaging	Het
Trrap	A	G	5: 144,816,433	N1856S	probably benign	Het
Ube3a	G	A	7: 59,276,041	G210D	probably benign	Het
Ubqln5	A	G	7: 104,129,482	V45A	probably damaging	Het
Wdpcp	T	A	11: 21,711,958	M410K	possibly damaging	Het
Xpa	G	A	4: 46,185,606	T124M	probably damaging	Het
Zpbp2	A	G	11: 98,555,541	E172G	probably damaging	Het

Other mutations in Cntnap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cntnap3	APN	13	64772731	missense	probably damaging	1.00
IGL00782:Cntnap3	APN	13	64745805	splice site	probably benign
IGL00976:Cntnap3	APN	13	64794352	missense	probably damaging	1.00
IGL01319:Cntnap3	APN	13	64787837	missense	probably damaging	1.00
IGL01610:Cntnap3	APN	13	64757301	missense	probably damaging	0.98
IGL01861:Cntnap3	APN	13	64799108	missense	probably damaging	1.00
IGL02133:Cntnap3	APN	13	64751673	splice site	probably benign
IGL02251:Cntnap3	APN	13	64762036	missense	probably damaging	1.00
IGL02272:Cntnap3	APN	13	64757411	missense	probably damaging	1.00
IGL02370:Cntnap3	APN	13	64751751	missense	probably benign
IGL02456:Cntnap3	APN	13	64799058	splice site	probably benign
IGL02589:Cntnap3	APN	13	64792430	missense	probably benign	0.08
IGL02695:Cntnap3	APN	13	64772132	missense	probably benign	0.01
IGL02850:Cntnap3	APN	13	64757409	missense	probably damaging	1.00
IGL03038:Cntnap3	APN	13	64741025	missense	possibly damaging	0.50
IGL03188:Cntnap3	APN	13	64781745	missense	probably damaging	0.97
IGL03327:Cntnap3	APN	13	64887768	nonsense	probably null
PIT4480001:Cntnap3	UTSW	13	64757210	missense	probably damaging	1.00
R0309:Cntnap3	UTSW	13	64757436	splice site	probably benign
R0422:Cntnap3	UTSW	13	64757285	missense	probably damaging	0.96
R0463:Cntnap3	UTSW	13	64778876	missense	probably damaging	1.00
R0491:Cntnap3	UTSW	13	64762045	missense	probably benign	0.01
R0499:Cntnap3	UTSW	13	64858678	missense	probably benign	0.33
R0550:Cntnap3	UTSW	13	64762000	missense	possibly damaging	0.86
R0613:Cntnap3	UTSW	13	64758414	missense	probably damaging	1.00
R0666:Cntnap3	UTSW	13	64757397	missense	probably damaging	1.00
R0840:Cntnap3	UTSW	13	64787910	missense	possibly damaging	0.94
R1577:Cntnap3	UTSW	13	64758290	missense	probably damaging	1.00
R1716:Cntnap3	UTSW	13	64762002	missense	probably damaging	1.00
R1732:Cntnap3	UTSW	13	64740812	critical splice donor site	probably null
R1739:Cntnap3	UTSW	13	64740592	missense	probably benign	0.17
R1905:Cntnap3	UTSW	13	64903764	missense	probably benign	0.04
R1988:Cntnap3	UTSW	13	64758390	missense	probably damaging	1.00
R2086:Cntnap3	UTSW	13	64794262	missense	possibly damaging	0.76
R3732:Cntnap3	UTSW	13	64740999	missense	possibly damaging	0.73
R3808:Cntnap3	UTSW	13	64781804	missense	probably damaging	0.96
R3809:Cntnap3	UTSW	13	64781804	missense	probably damaging	0.96
R4384:Cntnap3	UTSW	13	64748460	missense	probably damaging	1.00
R4433:Cntnap3	UTSW	13	64778853	missense	possibly damaging	0.92
R4631:Cntnap3	UTSW	13	64778883	missense	probably benign	0.04
R4645:Cntnap3	UTSW	13	64778788	critical splice donor site	probably null
R4702:Cntnap3	UTSW	13	64778862	missense	probably benign	0.17
R4876:Cntnap3	UTSW	13	64787706	missense	probably benign	0.00
R4994:Cntnap3	UTSW	13	64761984	missense	possibly damaging	0.55
R5043:Cntnap3	UTSW	13	64794348	missense	probably damaging	1.00
R5214:Cntnap3	UTSW	13	64762010	missense	probably damaging	1.00
R5403:Cntnap3	UTSW	13	64761978	missense	possibly damaging	0.90
R5571:Cntnap3	UTSW	13	64903758	missense	probably damaging	0.98
R5587:Cntnap3	UTSW	13	64746738	missense	probably damaging	1.00
R5695:Cntnap3	UTSW	13	64787955	missense	probably damaging	0.99
R5834:Cntnap3	UTSW	13	64748577	missense	probably benign	0.07
R5892:Cntnap3	UTSW	13	64799180	missense	probably damaging	1.00
R5950:Cntnap3	UTSW	13	64787769	missense	probably damaging	1.00
R6526:Cntnap3	UTSW	13	64781888	missense	possibly damaging	0.96
R6954:Cntnap3	UTSW	13	64748559	missense	probably benign	0.00
R7138:Cntnap3	UTSW	13	64781725	critical splice donor site	probably null
R7355:Cntnap3	UTSW	13	64771962	missense	probably benign
R7425:Cntnap3	UTSW	13	64758252	missense	probably damaging	1.00
R7521:Cntnap3	UTSW	13	64772001	missense	probably benign	0.22
R7719:Cntnap3	UTSW	13	64772777	nonsense	probably null
R7810:Cntnap3	UTSW	13	64793308	missense	possibly damaging	0.73
R7871:Cntnap3	UTSW	13	64903773	missense	probably benign	0.00
R8259:Cntnap3	UTSW	13	64787867	missense	probably damaging	0.99
R8415:Cntnap3	UTSW	13	64738665	missense	probably benign	0.31
R8491:Cntnap3	UTSW	13	64785343	missense	probably damaging	1.00
R9086:Cntnap3	UTSW	13	64781759	missense	probably damaging	1.00
R9087:Cntnap3	UTSW	13	64751718	missense	probably damaging	0.96
R9398:Cntnap3	UTSW	13	64903834	missense	probably benign	0.41
R9475:Cntnap3	UTSW	13	64799135	missense	probably damaging	1.00
R9625:Cntnap3	UTSW	13	64858765	missense	probably damaging	1.00
R9679:Cntnap3	UTSW	13	64751748	missense	probably damaging	1.00
Z1176:Cntnap3	UTSW	13	64740872	frame shift	probably null
Z1176:Cntnap3	UTSW	13	64792388	missense	probably damaging	0.98
Z1177:Cntnap3	UTSW	13	64781892	missense	probably damaging	0.99

Posted On

2015-04-16