Mutagenetix > Incidental Mutation

Incidental Mutation 'R0633:Cntn4'

58064

Institutional Source

Beutler Lab

Gene Symbol

Cntn4

Ensembl Gene

ENSMUSG00000064293

Gene Name

contactin 4

Synonyms

BIG-2A, Axcam

MMRRC Submission

038822-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R0633 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

105677660-106699310 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 106679248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089208] [ENSMUST00000113260] [ENSMUST00000113261] [ENSMUST00000113264]

AlphaFold

Q69Z26

Predicted Effect

probably null
Transcript: ENSMUST00000089208

SMART Domains

Protein: ENSMUSP00000086616
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART
FN3	700	786	8.39e0	SMART
FN3	801	886	1.33e-6	SMART
FN3	901	981	9.85e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113260

SMART Domains

Protein: ENSMUSP00000108885
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113261

SMART Domains

Protein: ENSMUSP00000108886
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113264

SMART Domains

Protein: ENSMUSP00000108889
Gene: ENSMUSG00000064293

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	41	107	2.32e-8	SMART
IG	129	215	3.4e-6	SMART
IGc2	238	302	8.76e-18	SMART
IGc2	328	391	2.91e-14	SMART
IGc2	420	484	1.58e-10	SMART
IG	504	594	9.55e-10	SMART
FN3	597	683	1.54e-11	SMART
FN3	700	786	8.39e0	SMART
FN3	801	886	1.33e-6	SMART
FN3	901	981	9.85e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204621

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit aberrant projection of olfactory axons to multiple glomeruli in the olfactory bulb. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,325,701	I82L	probably benign	Het
4921530L21Rik	T	G	14: 95,881,943	N45K	probably damaging	Het
4933408B17Rik	A	G	18: 34,586,266	V167A	possibly damaging	Het
Adamts8	A	T	9: 30,943,511	R18S	probably damaging	Het
Adgb	G	A	10: 10,391,729	A923V	probably benign	Het
Aldh1a3	A	G	7: 66,400,222	V416A	probably damaging	Het
Alox5	C	T	6: 116,420,384	G280R	probably damaging	Het
Anapc5	A	T	5: 122,800,632	Y360N	probably damaging	Het
Apbb1	C	T	7: 105,558,963	V685I	probably damaging	Het
Apc2	C	A	10: 80,307,455	A463E	probably damaging	Het
Arhgap21	C	T	2: 20,855,387	W1170*	probably null	Het
Atat1	G	A	17: 35,901,423	R305C	probably damaging	Het
Cars2	T	C	8: 11,550,511	D56G	probably benign	Het
Cdc42bpb	T	C	12: 111,345,555	I108V	probably damaging	Het
Cftr	T	A	6: 18,305,980	I1255K	probably damaging	Het
Ckap5	T	C	2: 91,550,743	L148P	probably damaging	Het
Cpe	G	A	8: 64,609,203	P273L	probably damaging	Het
Cpsf7	A	G	19: 10,531,782	D19G	probably benign	Het
Ddx25	C	A	9: 35,545,972	R349L	probably damaging	Het
Depdc7	T	C	2: 104,722,881	D446G	probably benign	Het
Det1	T	A	7: 78,843,935	N107I	probably benign	Het
Dock6	A	T	9: 21,844,417	D170E	probably benign	Het
Dvl1	C	T	4: 155,858,295	L673F	probably damaging	Het
Gucy1b1	A	T	3: 82,045,460	I222K	probably benign	Het
Hfm1	T	C	5: 106,917,601	T71A	possibly damaging	Het
Ikzf1	A	G	11: 11,769,223	E310G	probably damaging	Het
Impg1	T	C	9: 80,394,155	E163G	possibly damaging	Het
Itpr2	G	T	6: 146,374,456	H426Q	probably damaging	Het
Itpripl2	C	T	7: 118,490,256	G360D	probably benign	Het
Kif14	C	T	1: 136,527,305	R1572C	probably damaging	Het
L3mbtl3	A	T	10: 26,302,685	H568Q	unknown	Het
Lgi2	A	G	5: 52,554,460	Y173H	probably damaging	Het
Lpar5	A	C	6: 125,081,991	Y225S	probably benign	Het
Lpin3	A	G	2: 160,903,974	H675R	probably damaging	Het
Lrp2	C	A	2: 69,448,120	G3963V	probably damaging	Het
Man1a2	G	T	3: 100,684,575	D13E	possibly damaging	Het
Map1a	T	C	2: 121,308,014	V2753A	probably damaging	Het
Mitf	C	A	6: 98,003,904	N97K	probably damaging	Het
Msh2	A	G	17: 87,672,810		probably null	Het
Msr1	T	C	8: 39,620,000	E170G	probably damaging	Het
Myrip	C	A	9: 120,388,236	R79S	probably damaging	Het
Nek10	G	A	14: 14,857,782		probably null	Het
Neto1	C	T	18: 86,404,729	R104*	probably null	Het
Nom1	A	C	5: 29,451,100	K821T	probably damaging	Het
Nrxn1	A	G	17: 90,704,181	V340A	probably damaging	Het
Nxpe4	A	T	9: 48,396,597	I334F	probably benign	Het
Olfr1043	T	A	2: 86,162,091	N286I	probably damaging	Het
Olfr1065	C	T	2: 86,445,129	M284I	probably benign	Het
Olfr1247	T	C	2: 89,609,374	M243V	probably benign	Het
Olfr1489	T	C	19: 13,633,336	V75A	probably damaging	Het
Olfr382	A	G	11: 73,516,927	S91P	probably benign	Het
Olfr705	T	C	7: 106,713,977	K235E	probably benign	Het
Padi4	A	G	4: 140,757,585	S322P	probably damaging	Het
Peli3	A	G	19: 4,941,782	Y44H	probably damaging	Het
Prdm4	A	G	10: 85,907,903	S163P	probably damaging	Het
Prom2	T	C	2: 127,539,525	D227G	probably benign	Het
Ptgfr	C	T	3: 151,801,763	R321H	probably benign	Het
Rgs3	G	A	4: 62,625,906	R136H	probably damaging	Het
Rgsl1	T	G	1: 153,844,107	N3T	possibly damaging	Het
Rif1	T	C	2: 52,112,563	S2010P	probably benign	Het
Rngtt	T	C	4: 33,368,690	F408L	probably damaging	Het
Rtn3	T	G	19: 7,457,593	T326P	probably benign	Het
Slc18b1	A	C	10: 23,806,038	M167L	probably benign	Het
Slc22a26	A	G	19: 7,788,210		probably null	Het
Slitrk6	T	C	14: 110,751,885	D130G	probably damaging	Het
Snap47	A	G	11: 59,428,613	V233A	probably benign	Het
Sumf1	A	C	6: 108,144,671	Y158D	probably damaging	Het
Tbc1d15	A	T	10: 115,220,310	H252Q	probably benign	Het
Thsd7b	T	C	1: 130,188,526	S1339P	possibly damaging	Het
Tmem45a2	T	C	16: 57,049,414	I56V	probably benign	Het
Ttc21b	A	G	2: 66,236,233	S359P	probably benign	Het
Ttc27	T	C	17: 74,729,977	I215T	probably benign	Het
Ttn	C	T	2: 76,724,195	V30759I	possibly damaging	Het
Vdac3	T	C	8: 22,580,388	N168S	probably damaging	Het
Wdr7	T	C	18: 63,865,300	V1106A	probably benign	Het
Wrap73	T	A	4: 154,142,491	F16Y	probably damaging	Het
Zfat	C	A	15: 68,180,803	D381Y	probably damaging	Het

Other mutations in Cntn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cntn4	APN	6	106506225	missense	probably damaging	1.00
IGL00725:Cntn4	APN	6	106662655	missense	probably damaging	1.00
IGL01062:Cntn4	APN	6	106618278	splice site	probably benign
IGL01432:Cntn4	APN	6	106678334	splice site	probably benign
IGL01585:Cntn4	APN	6	106618328	nonsense	probably null
IGL01710:Cntn4	APN	6	106550431	missense	possibly damaging	0.87
IGL01870:Cntn4	APN	6	106489715	missense	possibly damaging	0.95
IGL01933:Cntn4	APN	6	106694384	missense	probably damaging	0.99
IGL01937:Cntn4	APN	6	106437904	missense	probably damaging	1.00
IGL01945:Cntn4	APN	6	106437904	missense	probably damaging	1.00
IGL02007:Cntn4	APN	6	106655529	missense	probably benign	0.03
IGL02506:Cntn4	APN	6	106618388	missense	probably benign	0.24
IGL02561:Cntn4	APN	6	106523509	missense	probably damaging	1.00
IGL03080:Cntn4	APN	6	106655539	missense	probably damaging	1.00
IGL03338:Cntn4	APN	6	106655589	missense	probably damaging	0.98
IGL03097:Cntn4	UTSW	6	106353712	missense	probably benign	0.10
LCD18:Cntn4	UTSW	6	106553940	intron	probably benign
R0083:Cntn4	UTSW	6	106525369	missense	possibly damaging	0.79
R0098:Cntn4	UTSW	6	106618424	splice site	probably benign
R0501:Cntn4	UTSW	6	106618335	missense	probably damaging	1.00
R0626:Cntn4	UTSW	6	106662578	missense	probably benign	0.07
R0730:Cntn4	UTSW	6	106550486	missense	probably damaging	1.00
R0849:Cntn4	UTSW	6	106667457	missense	probably damaging	1.00
R0883:Cntn4	UTSW	6	106667540	splice site	probably benign
R0926:Cntn4	UTSW	6	106655581	missense	probably benign	0.21
R1199:Cntn4	UTSW	6	106353597	splice site	probably benign
R1293:Cntn4	UTSW	6	106353724	missense	probably benign	0.00
R1296:Cntn4	UTSW	6	106509402	missense	probably damaging	1.00
R1344:Cntn4	UTSW	6	106344870	splice site	probably null
R1418:Cntn4	UTSW	6	106344870	splice site	probably null
R1660:Cntn4	UTSW	6	106679297	missense	probably benign	0.35
R1751:Cntn4	UTSW	6	106618410	critical splice donor site	probably null
R1883:Cntn4	UTSW	6	106679392	missense	probably benign	0.01
R1884:Cntn4	UTSW	6	106679392	missense	probably benign	0.01
R1899:Cntn4	UTSW	6	106675813	missense	probably benign	0.21
R1906:Cntn4	UTSW	6	106353646	missense	probably benign	0.00
R2048:Cntn4	UTSW	6	106437864	splice site	probably benign
R2113:Cntn4	UTSW	6	106489697	missense	probably damaging	1.00
R3177:Cntn4	UTSW	6	106437964	critical splice donor site	probably null
R3277:Cntn4	UTSW	6	106437964	critical splice donor site	probably null
R3944:Cntn4	UTSW	6	106618414	missense	probably benign	0.10
R4401:Cntn4	UTSW	6	106489664	missense	possibly damaging	0.94
R4540:Cntn4	UTSW	6	106675748	missense	probably damaging	1.00
R4688:Cntn4	UTSW	6	106437949	missense	probably damaging	1.00
R4697:Cntn4	UTSW	6	106525485	missense	probably damaging	1.00
R4810:Cntn4	UTSW	6	106655611	missense	probably benign	0.04
R4816:Cntn4	UTSW	6	106550497	missense	probably benign
R4873:Cntn4	UTSW	6	106437913	missense	possibly damaging	0.61
R4875:Cntn4	UTSW	6	106437913	missense	possibly damaging	0.61
R4953:Cntn4	UTSW	6	106525418	missense	probably benign	0.01
R5288:Cntn4	UTSW	6	106181804	missense	possibly damaging	0.60
R5336:Cntn4	UTSW	6	106662634	missense	possibly damaging	0.72
R5386:Cntn4	UTSW	6	106181804	missense	possibly damaging	0.60
R5477:Cntn4	UTSW	6	106673950	missense	possibly damaging	0.88
R5514:Cntn4	UTSW	6	106672883	missense	probably damaging	1.00
R5668:Cntn4	UTSW	6	106679436	splice site	silent
R6334:Cntn4	UTSW	6	106344786	missense	probably benign
R6334:Cntn4	UTSW	6	106506192	missense	probably benign	0.29
R6904:Cntn4	UTSW	6	106697583	missense	probably benign	0.03
R6985:Cntn4	UTSW	6	106679417	missense	probably benign	0.03
R7246:Cntn4	UTSW	6	106506219	missense	probably damaging	1.00
R7282:Cntn4	UTSW	6	106525460	missense	probably damaging	0.99
R7585:Cntn4	UTSW	6	106489611	missense	probably damaging	1.00
R7667:Cntn4	UTSW	6	106679895	missense	possibly damaging	0.83
R7781:Cntn4	UTSW	6	106523614	missense	probably damaging	1.00
R7882:Cntn4	UTSW	6	106353723	missense	probably benign
R8081:Cntn4	UTSW	6	106674607	missense	possibly damaging	0.95
R8105:Cntn4	UTSW	6	106353606	missense	probably damaging	1.00
R8221:Cntn4	UTSW	6	106509510	missense	probably benign	0.17
R8910:Cntn4	UTSW	6	106655536	missense	probably benign	0.10
R8911:Cntn4	UTSW	6	106353782	critical splice donor site	probably null
R8916:Cntn4	UTSW	6	106675954	missense	probably damaging	0.99
R9249:Cntn4	UTSW	6	106489761	missense	possibly damaging	0.95
R9376:Cntn4	UTSW	6	106662630	missense	probably damaging	1.00
R9616:Cntn4	UTSW	6	106697564	nonsense	probably null
R9767:Cntn4	UTSW	6	106678434	missense	probably benign	0.40
Z1176:Cntn4	UTSW	6	106509464	missense	probably benign	0.28
Z1176:Cntn4	UTSW	6	106523563	missense	probably benign	0.00
Z1177:Cntn4	UTSW	6	106550425	missense	probably damaging	1.00
Z1177:Cntn4	UTSW	6	106662618	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGATCATGTGGATCTCCTTGTTC -3'
(R):5'- TTCAGTTGGTCGCCTACCATTTATAGC -3'

Sequencing Primer
(F):5'- GTGGATCTCCTTGTTCTAAAAGC -3'
(R):5'- TTAGTATGCAAATGATCCCTGGGAG -3'

Posted On

2013-07-11