Mutagenetix > Incidental Mutation

Incidental Mutation 'R0390:Cep152'

31573

Institutional Source

Beutler Lab

Gene Symbol

Cep152

Ensembl Gene

ENSMUSG00000068394

Gene Name

centrosomal protein 152

Synonyms

MMRRC Submission

038596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0390 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125563088-125625113 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 125576869 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000087208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089776]

AlphaFold

A2AUM9

Predicted Effect

probably benign
Transcript: ENSMUST00000089776

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	106	124	N/A	INTRINSIC
coiled coil region	228	481	N/A	INTRINSIC
low complexity region	582	593	N/A	INTRINSIC
coiled coil region	602	651	N/A	INTRINSIC
coiled coil region	692	770	N/A	INTRINSIC
low complexity region	780	793	N/A	INTRINSIC
coiled coil region	835	868	N/A	INTRINSIC
coiled coil region	954	1038	N/A	INTRINSIC
coiled coil region	1205	1277	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
PHENOTYPE: Embryos homozygous for a null allele exhibit reduced numbers of centrosomes and cilia, increased apoptosis, and midgestation lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	T	A	18: 59,075,688	V136E	probably damaging	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ap2m1	T	C	16: 20,541,099	M183T	probably damaging	Het
Apob	A	T	12: 7,988,678	I364F	probably damaging	Het
Arl6	A	T	16: 59,622,421		probably benign	Het
Cand2	A	G	6: 115,774,653	M15V	possibly damaging	Het
Cbl	A	G	9: 44,201,005	F131S	probably damaging	Het
Ccdc151	T	A	9: 21,991,708	H442L	probably benign	Het
Ccdc74a	A	G	16: 17,650,476	S321G	probably benign	Het
Cdc14b	T	C	13: 64,210,192		probably benign	Het
Cep290	A	G	10: 100,508,758	E479G	probably benign	Het
Chrm2	T	G	6: 36,524,111	I301R	probably benign	Het
Clec2e	A	G	6: 129,093,468	W197R	probably damaging	Het
Cnot10	G	T	9: 114,629,150	S96*	probably null	Het
Col19a1	A	G	1: 24,289,655		probably benign	Het
Csmd2	T	C	4: 128,133,673		probably benign	Het
Cthrc1	A	T	15: 39,086,764	*172L	probably null	Het
Cul9	A	T	17: 46,528,589	I821N	probably benign	Het
Daam1	G	C	12: 71,975,304		probably benign	Het
Dhx58	A	T	11: 100,699,264	I398N	probably damaging	Het
Dip2b	T	A	15: 100,193,913	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,621,029	D50G	probably damaging	Het
Dmxl1	C	A	18: 49,879,362	Q1529K	probably benign	Het
Dtna	C	T	18: 23,597,501	P315L	probably damaging	Het
Ep300	T	C	15: 81,640,116	S1382P	unknown	Het
Fat2	A	T	11: 55,310,777	N490K	probably damaging	Het
Flg2	T	A	3: 93,200,355		probably benign	Het
Gm13084	T	A	4: 143,811,699	D234V	probably benign	Het
Gpatch1	T	C	7: 35,281,381		probably benign	Het
Grin2a	C	A	16: 9,579,585	K879N	possibly damaging	Het
Hacd3	A	C	9: 65,001,022	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,298,948	C197G	probably damaging	Het
Hsd17b12	T	C	2: 94,114,990		probably benign	Het
Hsd3b1	A	T	3: 98,853,039	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,214,094		probably null	Het
Igf2bp2	A	G	16: 22,081,801	F129L	possibly damaging	Het
Kirrel3	T	A	9: 35,020,163	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,412	I204T	probably damaging	Het
Kpna6	A	T	4: 129,657,804	S65R	possibly damaging	Het
Lama3	A	T	18: 12,407,563	D308V	probably benign	Het
Larp4b	T	A	13: 9,158,107		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175	T11S	probably benign	Het
Man1c1	A	G	4: 134,578,315	L366P	probably damaging	Het
Mef2a	A	G	7: 67,251,724	M100T	probably damaging	Het
Mettl13	G	A	1: 162,538,889	H474Y	possibly damaging	Het
Mmp3	A	G	9: 7,451,320	D352G	probably benign	Het
Mns1	T	C	9: 72,452,804	I412T	probably damaging	Het
Mon2	T	C	10: 123,007,021	D1501G	probably null	Het
Mylk	G	T	16: 34,875,620	G242W	probably damaging	Het
Nav1	T	C	1: 135,449,966	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,453,883	S2P	probably damaging	Het
Nek3	A	T	8: 22,128,729		probably benign	Het
Nfrkb	A	G	9: 31,388,897		probably benign	Het
Nlrp4d	T	C	7: 10,388,778	D53G	probably benign	Het
Nol8	T	C	13: 49,662,152	S561P	probably damaging	Het
Nuf2	A	C	1: 169,525,297		probably benign	Het
Ofcc1	T	A	13: 40,015,313	D866V	possibly damaging	Het
Olfr195	A	G	16: 59,149,299	I150V	probably benign	Het
Optn	A	G	2: 5,046,195	L125P	probably benign	Het
Otoa	T	A	7: 121,131,341	F588Y	probably benign	Het
Pappa	T	A	4: 65,351,613		probably null	Het
Pde5a	T	G	3: 122,835,583	C635W	probably damaging	Het
Pdgfb	A	T	15: 80,003,419		probably null	Het
Pih1d2	T	A	9: 50,621,046	C135S	probably damaging	Het
Plcg1	G	T	2: 160,752,366	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,601,360		probably benign	Het
Prdm10	G	A	9: 31,349,268		probably null	Het
Prex2	T	A	1: 11,089,706		probably null	Het
Prss56	T	G	1: 87,184,730		probably null	Het
Prtg	A	G	9: 72,844,958	K209E	probably benign	Het
Ptprc	G	A	1: 138,122,575	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 29,145,860	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,248,634	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,885,998	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,178,547	V500A	probably damaging	Het
Rgs6	A	G	12: 83,133,677	K434R	probably damaging	Het
Rims1	C	T	1: 22,596,526	A125T	possibly damaging	Het
Robo3	A	G	9: 37,422,177	V746A	probably benign	Het
Rtl1	C	T	12: 109,591,386	E1340K	unknown	Het
Sacs	G	A	14: 61,205,640	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,403,977	P19S	probably benign	Het
Samhd1	T	C	2: 157,114,231	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,658,490	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243	A4T	probably benign	Het
Skint9	C	A	4: 112,389,179	L245F	probably benign	Het
Slc35f5	T	C	1: 125,585,095	L372P	probably damaging	Het
Smc1b	A	T	15: 85,066,277	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,957,573		probably benign	Het
Sptlc1	T	C	13: 53,337,612	D417G	probably benign	Het
Sv2c	T	C	13: 96,088,708	N31S	probably benign	Het
Tjp1	T	C	7: 65,314,990	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442	T1221A	probably benign	Het
Tph2	T	C	10: 115,174,109	D182G	probably damaging	Het
Traf6	C	T	2: 101,688,588	Q141*	probably null	Het
Ttn	T	C	2: 76,756,931	D21574G	probably damaging	Het
Uba2	T	A	7: 34,151,021	N367I	probably benign	Het
Ube2b	T	C	11: 51,988,602		probably benign	Het
Ubr5	G	T	15: 38,030,672	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,464,148	H301L	probably benign	Het
Upf2	T	A	2: 6,018,894		probably benign	Het
Utrn	T	C	10: 12,710,060	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,823,181	D734G	probably damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vwf	T	A	6: 125,626,361	Y891*	probably null	Het
Wwox	C	T	8: 114,706,278	T228I	probably benign	Het
Zer1	C	T	2: 30,108,213		probably benign	Het
Zfp180	C	T	7: 24,104,707	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,607,225	Y279N	probably benign	Het

Other mutations in Cep152

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Cep152	APN	2	125563888	missense	probably benign	0.01
IGL00561:Cep152	APN	2	125563723	nonsense	probably null
IGL01082:Cep152	APN	2	125569545	splice site	probably benign
IGL01420:Cep152	APN	2	125563652	missense	possibly damaging	0.49
IGL01832:Cep152	APN	2	125618494	nonsense	probably null
IGL02106:Cep152	APN	2	125602936	splice site	probably null
IGL02124:Cep152	APN	2	125563461	missense	probably benign	0.23
IGL02349:Cep152	APN	2	125594956	missense	probably damaging	0.99
IGL02541:Cep152	APN	2	125605354	missense	probably damaging	1.00
IGL02659:Cep152	APN	2	125579549	missense	probably damaging	0.96
IGL02711:Cep152	APN	2	125563942	missense	possibly damaging	0.93
IGL02737:Cep152	APN	2	125586474	missense	possibly damaging	0.71
IGL03060:Cep152	APN	2	125619987	splice site	probably benign
IGL03095:Cep152	APN	2	125618451	missense	probably benign	0.00
IGL03186:Cep152	APN	2	125563975	missense	probably benign
IGL03306:Cep152	APN	2	125605408	missense	possibly damaging	0.90
R0034:Cep152	UTSW	2	125583893	missense	probably benign	0.00
R0034:Cep152	UTSW	2	125583893	missense	probably benign	0.00
R0079:Cep152	UTSW	2	125618453	missense	possibly damaging	0.92
R0244:Cep152	UTSW	2	125564214	missense	probably benign	0.00
R0462:Cep152	UTSW	2	125583934	missense	possibly damaging	0.64
R0480:Cep152	UTSW	2	125581719	missense	possibly damaging	0.95
R0595:Cep152	UTSW	2	125595063	missense	probably damaging	0.99
R0973:Cep152	UTSW	2	125594899	missense	probably benign	0.00
R0973:Cep152	UTSW	2	125594899	missense	probably benign	0.00
R1634:Cep152	UTSW	2	125583889	missense	probably benign	0.00
R1664:Cep152	UTSW	2	125566254	missense	probably benign	0.38
R1693:Cep152	UTSW	2	125566254	missense	probably benign	0.38
R1887:Cep152	UTSW	2	125620305	missense	probably benign	0.00
R1930:Cep152	UTSW	2	125618371	critical splice donor site	probably null
R2178:Cep152	UTSW	2	125580034	splice site	probably null
R2225:Cep152	UTSW	2	125581784	missense	probably damaging	1.00
R2324:Cep152	UTSW	2	125563462	missense	probably benign	0.38
R2416:Cep152	UTSW	2	125564172	nonsense	probably null
R2845:Cep152	UTSW	2	125587974	missense	probably damaging	1.00
R3753:Cep152	UTSW	2	125625052	unclassified	probably benign
R4212:Cep152	UTSW	2	125620001	missense	probably benign	0.00
R4304:Cep152	UTSW	2	125563723	nonsense	probably null
R4371:Cep152	UTSW	2	125613047	missense	probably damaging	1.00
R4399:Cep152	UTSW	2	125587980	missense	possibly damaging	0.63
R4536:Cep152	UTSW	2	125602947	splice site	probably null
R4713:Cep152	UTSW	2	125587948	missense	possibly damaging	0.79
R4777:Cep152	UTSW	2	125564095	missense	probably benign	0.29
R4779:Cep152	UTSW	2	125568892	missense	possibly damaging	0.52
R4785:Cep152	UTSW	2	125586329	critical splice donor site	probably null
R4816:Cep152	UTSW	2	125563754	missense	probably damaging	1.00
R4847:Cep152	UTSW	2	125618474	missense	possibly damaging	0.62
R4898:Cep152	UTSW	2	125586381	missense	probably benign	0.03
R4934:Cep152	UTSW	2	125611096	missense	possibly damaging	0.52
R4997:Cep152	UTSW	2	125586351	missense	probably benign	0.00
R5068:Cep152	UTSW	2	125571816	missense	probably benign	0.25
R5183:Cep152	UTSW	2	125566638	missense	probably damaging	1.00
R5198:Cep152	UTSW	2	125587624	missense	probably benign
R5261:Cep152	UTSW	2	125564205	missense	probably benign	0.06
R5272:Cep152	UTSW	2	125611030	missense	probably benign	0.27
R5284:Cep152	UTSW	2	125580021	missense	probably damaging	1.00
R6029:Cep152	UTSW	2	125563632	missense	probably benign	0.44
R6155:Cep152	UTSW	2	125581700	missense	probably benign
R6239:Cep152	UTSW	2	125579412	missense	probably benign	0.40
R6590:Cep152	UTSW	2	125564370	missense	probably damaging	1.00
R6690:Cep152	UTSW	2	125564370	missense	probably damaging	1.00
R6754:Cep152	UTSW	2	125587668	missense	probably damaging	0.99
R6798:Cep152	UTSW	2	125566527	splice site	probably null
R6816:Cep152	UTSW	2	125595027	missense	probably damaging	1.00
R6977:Cep152	UTSW	2	125568822	critical splice donor site	probably null
R7125:Cep152	UTSW	2	125566673	nonsense	probably null
R7146:Cep152	UTSW	2	125614405	missense	probably benign	0.06
R7588:Cep152	UTSW	2	125569626	missense	probably damaging	1.00
R7852:Cep152	UTSW	2	125590113	missense	possibly damaging	0.82
R7883:Cep152	UTSW	2	125613058	missense	possibly damaging	0.50
R8047:Cep152	UTSW	2	125564327	missense	probably benign	0.10
R8082:Cep152	UTSW	2	125586393	missense	probably benign
R8680:Cep152	UTSW	2	125564211	nonsense	probably null
R8739:Cep152	UTSW	2	125620055	missense	probably benign	0.06
R8744:Cep152	UTSW	2	125594871	critical splice donor site	probably null
R8896:Cep152	UTSW	2	125566235	missense	possibly damaging	0.55
R8924:Cep152	UTSW	2	125602858	missense	possibly damaging	0.91
R8971:Cep152	UTSW	2	125579850	nonsense	probably null
R9004:Cep152	UTSW	2	125611100	missense	probably benign	0.29
R9149:Cep152	UTSW	2	125619883	missense	probably damaging	0.99
R9149:Cep152	UTSW	2	125621207	missense	probably damaging	1.00
R9161:Cep152	UTSW	2	125566654	nonsense	probably null
R9239:Cep152	UTSW	2	125583910	missense	probably benign	0.02
R9249:Cep152	UTSW	2	125563984	missense	probably benign	0.38
R9258:Cep152	UTSW	2	125579436	nonsense	probably null
R9619:Cep152	UTSW	2	125594907	missense	probably benign	0.00
R9643:Cep152	UTSW	2	125564230	nonsense	probably null
R9775:Cep152	UTSW	2	125581740	nonsense	probably null
X0009:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0010:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0011:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0014:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0017:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0021:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0022:Cep152	UTSW	2	125620063	missense	probably benign	0.07
X0023:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0028:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0033:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0064:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
X0067:Cep152	UTSW	2	125614386	missense	probably damaging	1.00
Z1176:Cep152	UTSW	2	125583971	missense	probably benign	0.23
Z1177:Cep152	UTSW	2	125614324	missense	probably benign	0.33
Z1177:Cep152	UTSW	2	125619704	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCCCTGCCCCTGAATAAAACTG -3'
(R):5'- AATCTGGCATCCAAGTGGTCTTTCC -3'

Sequencing Primer
(F):5'- CTGCCCCTGAATAAAACTGTAATC -3'
(R):5'- CCCGAGCATTGGCACATAG -3'

Posted On

2013-04-24