Mutagenetix > Incidental Mutation

Incidental Mutation 'R4876:Cntnap3'

376910

Institutional Source

Beutler Lab

Gene Symbol

Cntnap3

Ensembl Gene

ENSMUSG00000033063

Gene Name

contactin associated protein-like 3

Synonyms

MMRRC Submission

042485-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64736182-64903955 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64787706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 448 (T448A)

Ref Sequence

ENSEMBL: ENSMUSP00000089140 (fasta)

Gene Model

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

AlphaFold

E9PY62

Predicted Effect

probably benign
Transcript: ENSMUST00000091554
AA Change: T448A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000089140
Gene: ENSMUSG00000033063
AA Change: T448A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

99% (97/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	C	T	9: 94,537,577	R100H	probably damaging	Het
4930562C15Rik	T	C	16: 4,849,672	F309S	unknown	Het
9530053A07Rik	A	T	7: 28,142,800		probably benign	Het
A630001G21Rik	C	T	1: 85,719,040	V167M	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ano4	A	G	10: 89,112,835	F138L	probably damaging	Het
Aoc1	T	C	6: 48,906,747	V519A	possibly damaging	Het
Arhgef37	A	T	18: 61,498,239	Y558*	probably null	Het
Atxn3	T	A	12: 101,948,379	S29C	probably damaging	Het
Bbs2	T	C	8: 94,070,160		probably benign	Het
BC052040	A	C	2: 115,670,058	H159P	probably damaging	Het
Bicral	A	T	17: 46,825,576	I236N	probably damaging	Het
Cabcoco1	A	G	10: 68,541,769	V30A	probably benign	Het
Cap2	A	G	13: 46,531,021	M1V	probably null	Het
Ccdc153	T	C	9: 44,241,008	M1T	probably null	Het
Ccnf	A	T	17: 24,230,337	V489D	probably damaging	Het
Cpa4	G	A	6: 30,590,815	D371N	probably benign	Het
Csl	T	A	10: 99,758,540	Y221F	possibly damaging	Het
Dalrd3	T	C	9: 108,571,436		probably benign	Het
Dennd4a	T	A	9: 64,896,590	N1070K	probably benign	Het
Dmwd	A	T	7: 19,080,547	D374V	probably damaging	Het
Eea1	G	T	10: 95,995,613	A189S	probably benign	Het
Fasn	A	G	11: 120,812,312	V1629A	probably damaging	Het
Fndc1	T	C	17: 7,771,639	D1075G	unknown	Het
Fsip2	A	G	2: 82,974,858	N507S	possibly damaging	Het
Gabra5	T	G	7: 57,413,665	E337A	probably damaging	Het
Gsg1l	A	G	7: 125,891,669	Y288H	probably benign	Het
H2-M11	A	T	17: 36,547,509	D65V	probably benign	Het
Hmgxb3	A	T	18: 61,146,534	C736S	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,644	I121N	probably damaging	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Il16	A	C	7: 83,673,094	S338A	probably benign	Het
Itpr1	G	A	6: 108,482,906	A2054T	probably damaging	Het
Lamp3	T	A	16: 19,655,470	I385F	probably damaging	Het
Limch1	G	A	5: 66,881,927	V66I	possibly damaging	Het
Lmod2	A	G	6: 24,604,279	R418G	probably benign	Het
Ly6g6c	A	T	17: 35,069,440	D96V	probably damaging	Het
Map2k2	G	A	10: 81,115,113	V131M	probably damaging	Het
Mapk9	T	C	11: 49,854,325	V22A	probably damaging	Het
Mettl2	T	C	11: 105,129,068	I177T	probably damaging	Het
Mob4	C	T	1: 55,152,836		probably benign	Het
Mybpc1	T	C	10: 88,522,991	I1113V	probably benign	Het
Mybpc1	A	T	10: 88,536,424	N781K	probably benign	Het
Myom1	A	G	17: 71,077,410	T707A	probably damaging	Het
Ncam2	G	A	16: 81,490,346	A383T	probably benign	Het
Nomo1	T	C	7: 46,066,491	S761P	probably damaging	Het
Nsd3	T	A	8: 25,691,134	S921T	possibly damaging	Het
Olfr268-ps1	C	G	2: 111,844,695		noncoding transcript	Het
Olfr934	A	T	9: 38,982,626	C139*	probably null	Het
Olfr985	C	T	9: 40,127,218	V248I	probably damaging	Het
Omp	A	T	7: 98,145,026	D131E	probably benign	Het
Pard3	T	C	8: 127,561,469		probably benign	Het
Parg	A	G	14: 32,271,668	T286A	probably damaging	Het
Parp1	T	A	1: 180,569,035	M1K	probably null	Het
Pclo	T	A	5: 14,811,680	S4882R	unknown	Het
Pcnx2	C	T	8: 125,772,108	E1551K	probably damaging	Het
Pcyox1l	A	G	18: 61,699,494	Y161H	probably damaging	Het
Pdzd8	A	T	19: 59,300,804	C721*	probably null	Het
Piwil4	T	C	9: 14,740,465	D90G	probably benign	Het
Plxdc2	T	A	2: 16,703,318	C306S	probably damaging	Het
Plxna2	T	A	1: 194,643,775	F6I	probably benign	Het
Prkaa1	T	C	15: 5,174,405	M265T	probably benign	Het
Prrc2b	T	C	2: 32,214,200	V1230A	probably benign	Het
Rfx2	T	C	17: 56,784,706	E329G	probably benign	Het
Scg2	T	C	1: 79,435,919	I322M	probably damaging	Het
Scly	T	A	1: 91,320,128	N399K	probably damaging	Het
Sec23b	T	A	2: 144,586,361		probably null	Het
Sephs2	A	T	7: 127,273,047	Y291*	probably null	Het
Slc45a3	T	C	1: 131,981,547	I494T	possibly damaging	Het
Slc6a21	C	A	7: 45,280,111	Y76*	probably null	Het
Slfn14	T	A	11: 83,276,272	I806L	possibly damaging	Het
Slfn4	T	A	11: 83,187,018	S211T	probably benign	Het
Sptbn4	A	G	7: 27,372,152	V1624A	probably damaging	Het
Sugp1	T	A	8: 70,071,184	M567K	probably damaging	Het
Tmem121	A	T	12: 113,188,728	M189L	probably benign	Het
Tmem201	A	G	4: 149,722,270	S444P	probably damaging	Het
Tmem63a	T	C	1: 180,973,186	V744A	probably benign	Het
Tnrc18	G	A	5: 142,731,625	S2358F	unknown	Het
Ubash3b	A	G	9: 41,018,109	V404A	probably benign	Het
Unc13c	A	T	9: 73,749,539	C1127S	probably damaging	Het
Unc5a	T	C	13: 54,997,229	V253A	probably benign	Het
Vmn1r-ps123	C	T	13: 22,996,365		noncoding transcript	Het
Wdr74	A	G	19: 8,739,485	E253G	possibly damaging	Het
Wwox	T	C	8: 114,448,248	Y107H	probably damaging	Het
Zdhhc22	A	T	12: 86,988,238	Y147N	probably damaging	Het
Zfp131	T	C	13: 119,788,955	H44R	possibly damaging	Het
Zfp235	A	G	7: 24,140,959	T268A	probably benign	Het
Zfp280d	T	C	9: 72,298,858		probably benign	Het
Zfp358	T	C	8: 3,496,170	S251P	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
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
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'- AGTCATTATTGGCTGCATATCACAC -3'
(R):5'- CACAGACAATTCCAGTGACTTTC -3'

Sequencing Primer
(F):5'- CACGTATAAATAGTCCTGAGTAGCC -3'
(R):5'- CAGACAATTCCAGTGACTTTCCTGAG -3'

Posted On

2016-03-17