Mutagenetix > Incidental Mutation

Incidental Mutation 'R1716:Cntnap3'

191053

Institutional Source

Beutler Lab

Gene Symbol

Cntnap3

Ensembl Gene

ENSMUSG00000033063

Gene Name

contactin associated protein-like 3

Synonyms

MMRRC Submission

039749-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64736182-64903955 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64762002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 763 (V763A)

Ref Sequence

ENSEMBL: ENSMUSP00000089140 (fasta)

Gene Model

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

AlphaFold

E9PY62

Predicted Effect

probably damaging
Transcript: ENSMUST00000091554
AA Change: V763A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: V763A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222618

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 79,082,198	T2A	unknown	Het
Adgrf3	T	A	5: 30,197,551	Q493L	probably benign	Het
Ak6	T	C	13: 100,655,669	S207P	probably benign	Het
Ang	A	G	14: 51,101,480	D26G	probably benign	Het
Ang	T	C	14: 51,101,500	F33L	probably damaging	Het
Arhgef38	T	A	3: 133,140,837	Y389F	probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Bicd2	C	A	13: 49,378,310	H343N	probably benign	Het
Casp4	G	A	9: 5,308,919		probably null	Het
Cd22	A	G	7: 30,877,678	F68S	probably damaging	Het
Cd46	T	A	1: 195,077,809	Q245L	probably benign	Het
Cntnap2	A	T	6: 47,107,892	R1096*	probably null	Het
Cyp3a11	T	C	5: 145,868,966	T171A	probably benign	Het
Defa30	A	G	8: 21,135,415	Y65C	probably damaging	Het
Defb18	A	T	1: 18,236,651	M27K	probably benign	Het
Dnah17	A	G	11: 118,032,598	S4071P	probably benign	Het
Dnah7b	T	A	1: 46,191,783	D1400E	probably damaging	Het
Dpysl5	C	T	5: 30,777,994	T147I	probably benign	Het
Dsg4	C	T	18: 20,462,461	R574*	probably null	Het
Epm2a	A	G	10: 11,448,836	E223G	probably benign	Het
Etl4	T	C	2: 20,743,681	S75P	probably damaging	Het
Fam189a1	A	T	7: 64,776,885		probably null	Het
Fbxw15	T	A	9: 109,557,136	M312L	probably benign	Het
Fcgr4	C	T	1: 171,020,103	T90I	probably damaging	Het
Fras1	T	A	5: 96,552,725	D201E	probably benign	Het
Gadl1	A	T	9: 116,006,508	K335*	probably null	Het
Gcsam	T	G	16: 45,619,993	V133G	probably damaging	Het
Gml	G	T	15: 74,813,816	L107I	possibly damaging	Het
Golga2	T	A	2: 32,302,897	L409Q	probably damaging	Het
Gtf2a1l	A	T	17: 88,694,580	Q241L	probably benign	Het
Gtf3c3	A	G	1: 54,399,260	Y799H	probably damaging	Het
Guca1b	T	G	17: 47,391,201		probably benign	Het
Igdcc4	C	A	9: 65,126,897	H617Q	probably damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Itga2b	A	C	11: 102,460,777	I574S	probably benign	Het
Kcnk7	A	T	19: 5,706,831	I283F	probably damaging	Het
Kirrel3	T	A	9: 35,023,547	L450M	probably damaging	Het
Lmntd1	A	T	6: 145,419,874	S176R	probably damaging	Het
Lrrc39	C	T	3: 116,579,567	T292I	probably benign	Het
Ltbp1	A	T	17: 75,315,024	H801L	probably benign	Het
Macf1	T	A	4: 123,401,403	Q3318L	probably damaging	Het
Man1b1	T	A	2: 25,345,020	N282K	probably benign	Het
Map2k6	A	T	11: 110,497,901	E223V	probably damaging	Het
Marf1	C	A	16: 14,142,586	R531S	possibly damaging	Het
Mfge8	G	A	7: 79,142,443	R245C	probably damaging	Het
Mgea5	C	A	19: 45,752,174	K907N	probably benign	Het
Mogat1	T	G	1: 78,538,044	N318K	probably benign	Het
Myh4	T	A	11: 67,250,309	S732R	possibly damaging	Het
Myt1l	T	A	12: 29,811,538	D106E	unknown	Het
Ndc1	T	C	4: 107,384,795	F302L	probably damaging	Het
Ndrg4	C	T	8: 95,712,328	A290V	probably benign	Het
Nfia	A	T	4: 98,063,128	K397N	probably damaging	Het
Nlrp4e	A	T	7: 23,321,033	Q315L	possibly damaging	Het
Olfr51	T	A	11: 51,007,852	N293K	probably damaging	Het
Olfr9	A	C	10: 128,990,852	*313C	probably null	Het
Peg3	T	C	7: 6,707,781	I1481V	possibly damaging	Het
Phldb2	C	T	16: 45,775,050	G883D	probably benign	Het
Pik3c2b	T	A	1: 133,094,826	Y1169N	probably damaging	Het
Plcl1	A	T	1: 55,695,838	I113F	probably damaging	Het
Pomt2	T	C	12: 87,124,836	I457V	probably benign	Het
Ppil1	T	C	17: 29,261,835	N38S	possibly damaging	Het
Prf1	A	G	10: 61,300,452	N169S	probably benign	Het
Prmt8	A	C	6: 127,726,523		probably null	Het
Ptprg	T	A	14: 12,154,360	S694T	probably benign	Het
Rab12	A	T	17: 66,500,320	M138K	possibly damaging	Het
Reln	T	C	5: 21,955,095	T2159A	probably damaging	Het
Retsat	A	T	6: 72,606,080	Y36F	probably damaging	Het
Rgs14	A	T	13: 55,378,883	Q116L	probably damaging	Het
Rlbp1	A	T	7: 79,375,936	N252K	probably damaging	Het
Rtraf	A	G	14: 19,812,174	L215P	probably damaging	Het
Sec1	A	T	7: 45,679,365	M86K	probably benign	Het
Sec24b	A	T	3: 130,041,016	S42T	possibly damaging	Het
Serpinb9d	T	C	13: 33,196,517	S129P	probably damaging	Het
Slc35f5	T	G	1: 125,584,532	D356E	possibly damaging	Het
Smpd4	T	C	16: 17,642,501	S694P	probably damaging	Het
Spag6	G	T	2: 18,745,609		probably null	Het
Spata31d1c	T	C	13: 65,033,216	I43T	possibly damaging	Het
Ssh1	T	C	5: 113,952,020	D314G	possibly damaging	Het
Tnfrsf17	G	A	16: 11,319,731	D111N	probably benign	Het
Ttn	A	G	2: 76,723,291	I30994T	probably damaging	Het
Ttn	A	T	2: 76,783,976	F8737L	probably damaging	Het
Ush1c	G	T	7: 46,195,728	F890L	probably benign	Het
Usp36	C	T	11: 118,272,131		probably null	Het
Vmn2r115	T	C	17: 23,347,821	Y436H	probably benign	Het
Vmn2r94	T	A	17: 18,257,373	M259L	probably benign	Het
Wwp1	T	C	4: 19,659,698	T197A	probably benign	Het
Zbtb37	T	A	1: 161,020,244	M398L	probably benign	Het
Zfp804b	C	T	5: 6,769,673	C1130Y	probably benign	Het
Zfp9	A	G	6: 118,464,751	C317R	probably damaging	Het
Zscan20	T	C	4: 128,586,541	H719R	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
IGL02127:Cntnap3	APN	13	64799064	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCTGGCCCTAAGATTGCCTCTAC -3'
(R):5'- TACCTGGCACAGCACCTGGTCAAC -3'

Sequencing Primer
(F):5'- AAGATTGCCTCTACTTTTGTGAC -3'
(R):5'- CAGCACCTGGTCAACAGGAG -3'

Posted On

2014-05-14