Mutagenetix > Incidental Mutation

Incidental Mutation 'R6239:Cep152'

505100

Institutional Source

Beutler Lab

Gene Symbol

Cep152

Ensembl Gene

ENSMUSG00000068394

Gene Name

centrosomal protein 152

Synonyms

MMRRC Submission

044363-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125405008-125467033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125421332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1133 (S1133T)

Ref Sequence

ENSEMBL: ENSMUSP00000087208 (fasta)

Gene Model

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

AlphaFold

A2AUM9

Predicted Effect

probably benign
Transcript: ENSMUST00000089776
AA Change: S1133T

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: S1133T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	A	1: 78,674,182 (GRCm39)	S373T	probably benign	Het
Aox1	G	A	1: 58,344,550 (GRCm39)		probably null	Het
Apol7c	T	C	15: 77,410,631 (GRCm39)	E105G	probably benign	Het
B4galnt2	C	T	11: 95,767,065 (GRCm39)	A184T	probably damaging	Het
Castor1	A	G	11: 4,168,967 (GRCm39)	T45A	possibly damaging	Het
Casz1	A	G	4: 149,022,734 (GRCm39)	Q600R	probably damaging	Het
Cep295	T	C	9: 15,233,927 (GRCm39)	I2290V	possibly damaging	Het
Clmn	A	T	12: 104,747,104 (GRCm39)	H814Q	probably benign	Het
Creb3l1	A	G	2: 91,825,748 (GRCm39)	C124R	probably damaging	Het
Cspg4	A	G	9: 56,795,466 (GRCm39)	D1067G	probably benign	Het
Cyp1a1	T	A	9: 57,609,361 (GRCm39)	V354E	probably benign	Het
Cyp2t4	A	T	7: 26,856,900 (GRCm39)	Q280L	possibly damaging	Het
Dcaf6	A	T	1: 165,178,839 (GRCm39)	D563E	possibly damaging	Het
Dennd2a	A	G	6: 39,465,750 (GRCm39)	F607L	probably damaging	Het
Dennd2d	T	A	3: 106,402,193 (GRCm39)	F288I	probably damaging	Het
Dnah8	C	T	17: 31,029,333 (GRCm39)	R4101C	probably damaging	Het
Dnai4	A	C	4: 102,923,640 (GRCm39)	N396K	probably benign	Het
Dnase2a	G	T	8: 85,635,508 (GRCm39)		probably null	Het
Dnmbp	C	T	19: 43,836,624 (GRCm39)	V1235I	probably benign	Het
Eml6	T	C	11: 29,699,275 (GRCm39)	D1826G	probably damaging	Het
Fam186b	T	C	15: 99,178,315 (GRCm39)	Y337C	probably benign	Het
Flg2	A	T	3: 93,108,579 (GRCm39)	E202D	probably benign	Het
Fus	C	T	7: 127,580,606 (GRCm39)	R228C	possibly damaging	Het
Gbf1	A	G	19: 46,248,135 (GRCm39)	E304G	probably benign	Het
Ggt1	A	G	10: 75,421,515 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,245,918 (GRCm39)	D354V	probably damaging	Het
Hdac4	T	C	1: 91,982,694 (GRCm39)	D8G	probably benign	Het
Hhat	A	T	1: 192,277,395 (GRCm39)	Y355N	probably damaging	Het
Ift140	T	C	17: 25,247,946 (GRCm39)	V268A	probably benign	Het
Il4i1	A	G	7: 44,489,836 (GRCm39)	R542G	probably benign	Het
Itga2b	C	T	11: 102,356,144 (GRCm39)	V328I	possibly damaging	Het
Kmt2a	T	C	9: 44,731,093 (GRCm39)		probably benign	Het
Lrit3	A	T	3: 129,593,995 (GRCm39)	I194N	probably damaging	Het
Mast4	A	G	13: 102,872,717 (GRCm39)	L2025P	probably benign	Het
Neb	T	C	2: 52,164,000 (GRCm39)	N1986S	probably benign	Het
Osbpl7	G	A	11: 96,943,650 (GRCm39)		probably null	Het
Pabpc2	T	A	18: 39,906,891 (GRCm39)	L52Q	probably damaging	Het
Pald1	T	C	10: 61,156,910 (GRCm39)	S847G	possibly damaging	Het
Pcdh12	T	C	18: 38,415,454 (GRCm39)	D557G	probably damaging	Het
Prmt2	A	T	10: 76,058,425 (GRCm39)	L128*	probably null	Het
Ptpn3	C	A	4: 57,249,981 (GRCm39)	A172S	probably benign	Het
Ptpro	A	T	6: 137,357,606 (GRCm39)	T366S	probably benign	Het
Reg4	A	G	3: 98,138,600 (GRCm39)	K100R	probably null	Het
Rims2	A	T	15: 39,061,758 (GRCm39)	M1L	unknown	Het
Sele	A	G	1: 163,878,377 (GRCm39)	S239G	probably damaging	Het
Slc11a1	G	A	1: 74,423,274 (GRCm39)	R375Q	possibly damaging	Het
Slc13a3	T	C	2: 165,248,617 (GRCm39)	T554A	unknown	Het
Snw1	A	T	12: 87,511,398 (GRCm39)	N84K	probably damaging	Het
Stpg4	T	C	17: 87,718,667 (GRCm39)	Y171C	probably benign	Het
Styxl2	A	T	1: 165,926,388 (GRCm39)	S1075T	probably damaging	Het
Tmem222	T	A	4: 132,995,606 (GRCm39)	H147L	probably damaging	Het
Tmprss11f	G	T	5: 86,681,636 (GRCm39)	R206S	probably damaging	Het
Trappc11	G	A	8: 47,982,529 (GRCm39)	T70M	possibly damaging	Het
Trpv4	G	A	5: 114,782,887 (GRCm39)	T25I	probably benign	Het
Ttr	T	C	18: 20,806,692 (GRCm39)	V114A	possibly damaging	Het
Umod	C	T	7: 119,076,520 (GRCm39)	C82Y	probably damaging	Het
Upk3a	T	A	15: 84,905,515 (GRCm39)	M208K	probably damaging	Het
Vmn1r59	G	A	7: 5,457,539 (GRCm39)	P74S	probably damaging	Het
Vwa3a	A	T	7: 120,393,457 (GRCm39)	R851S	probably benign	Het
Zfp236	G	T	18: 82,675,229 (GRCm39)	T421K	possibly damaging	Het
Zswim9	C	A	7: 12,995,257 (GRCm39)	G300*	probably null	Het

Other mutations in Cep152

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Cep152	APN	2	125,405,808 (GRCm39)	missense	probably benign	0.01
IGL00561:Cep152	APN	2	125,405,643 (GRCm39)	nonsense	probably null
IGL01082:Cep152	APN	2	125,411,465 (GRCm39)	splice site	probably benign
IGL01420:Cep152	APN	2	125,405,572 (GRCm39)	missense	possibly damaging	0.49
IGL01832:Cep152	APN	2	125,460,414 (GRCm39)	nonsense	probably null
IGL02106:Cep152	APN	2	125,444,856 (GRCm39)	splice site	probably null
IGL02124:Cep152	APN	2	125,405,381 (GRCm39)	missense	probably benign	0.23
IGL02349:Cep152	APN	2	125,436,876 (GRCm39)	missense	probably damaging	0.99
IGL02541:Cep152	APN	2	125,447,274 (GRCm39)	missense	probably damaging	1.00
IGL02659:Cep152	APN	2	125,421,469 (GRCm39)	missense	probably damaging	0.96
IGL02711:Cep152	APN	2	125,405,862 (GRCm39)	missense	possibly damaging	0.93
IGL02737:Cep152	APN	2	125,428,394 (GRCm39)	missense	possibly damaging	0.71
IGL03060:Cep152	APN	2	125,461,907 (GRCm39)	splice site	probably benign
IGL03095:Cep152	APN	2	125,460,371 (GRCm39)	missense	probably benign	0.00
IGL03186:Cep152	APN	2	125,405,895 (GRCm39)	missense	probably benign
IGL03306:Cep152	APN	2	125,447,328 (GRCm39)	missense	possibly damaging	0.90
R0034:Cep152	UTSW	2	125,425,813 (GRCm39)	missense	probably benign	0.00
R0034:Cep152	UTSW	2	125,425,813 (GRCm39)	missense	probably benign	0.00
R0079:Cep152	UTSW	2	125,460,373 (GRCm39)	missense	possibly damaging	0.92
R0244:Cep152	UTSW	2	125,406,134 (GRCm39)	missense	probably benign	0.00
R0390:Cep152	UTSW	2	125,418,789 (GRCm39)	splice site	probably benign
R0462:Cep152	UTSW	2	125,425,854 (GRCm39)	missense	possibly damaging	0.64
R0480:Cep152	UTSW	2	125,423,639 (GRCm39)	missense	possibly damaging	0.95
R0595:Cep152	UTSW	2	125,436,983 (GRCm39)	missense	probably damaging	0.99
R0973:Cep152	UTSW	2	125,436,819 (GRCm39)	missense	probably benign	0.00
R0973:Cep152	UTSW	2	125,436,819 (GRCm39)	missense	probably benign	0.00
R1634:Cep152	UTSW	2	125,425,809 (GRCm39)	missense	probably benign	0.00
R1664:Cep152	UTSW	2	125,408,174 (GRCm39)	missense	probably benign	0.38
R1693:Cep152	UTSW	2	125,408,174 (GRCm39)	missense	probably benign	0.38
R1887:Cep152	UTSW	2	125,462,225 (GRCm39)	missense	probably benign	0.00
R1930:Cep152	UTSW	2	125,460,291 (GRCm39)	critical splice donor site	probably null
R2178:Cep152	UTSW	2	125,421,954 (GRCm39)	splice site	probably null
R2225:Cep152	UTSW	2	125,423,704 (GRCm39)	missense	probably damaging	1.00
R2324:Cep152	UTSW	2	125,405,382 (GRCm39)	missense	probably benign	0.38
R2416:Cep152	UTSW	2	125,406,092 (GRCm39)	nonsense	probably null
R2845:Cep152	UTSW	2	125,429,894 (GRCm39)	missense	probably damaging	1.00
R3753:Cep152	UTSW	2	125,466,972 (GRCm39)	unclassified	probably benign
R4212:Cep152	UTSW	2	125,461,921 (GRCm39)	missense	probably benign	0.00
R4304:Cep152	UTSW	2	125,405,643 (GRCm39)	nonsense	probably null
R4371:Cep152	UTSW	2	125,454,967 (GRCm39)	missense	probably damaging	1.00
R4399:Cep152	UTSW	2	125,429,900 (GRCm39)	missense	possibly damaging	0.63
R4536:Cep152	UTSW	2	125,444,867 (GRCm39)	splice site	probably null
R4713:Cep152	UTSW	2	125,429,868 (GRCm39)	missense	possibly damaging	0.79
R4777:Cep152	UTSW	2	125,406,015 (GRCm39)	missense	probably benign	0.29
R4779:Cep152	UTSW	2	125,410,812 (GRCm39)	missense	possibly damaging	0.52
R4785:Cep152	UTSW	2	125,428,249 (GRCm39)	critical splice donor site	probably null
R4816:Cep152	UTSW	2	125,405,674 (GRCm39)	missense	probably damaging	1.00
R4847:Cep152	UTSW	2	125,460,394 (GRCm39)	missense	possibly damaging	0.62
R4898:Cep152	UTSW	2	125,428,301 (GRCm39)	missense	probably benign	0.03
R4934:Cep152	UTSW	2	125,453,016 (GRCm39)	missense	possibly damaging	0.52
R4997:Cep152	UTSW	2	125,428,271 (GRCm39)	missense	probably benign	0.00
R5068:Cep152	UTSW	2	125,413,736 (GRCm39)	missense	probably benign	0.25
R5183:Cep152	UTSW	2	125,408,558 (GRCm39)	missense	probably damaging	1.00
R5198:Cep152	UTSW	2	125,429,544 (GRCm39)	missense	probably benign
R5261:Cep152	UTSW	2	125,406,125 (GRCm39)	missense	probably benign	0.06
R5272:Cep152	UTSW	2	125,452,950 (GRCm39)	missense	probably benign	0.27
R5284:Cep152	UTSW	2	125,421,941 (GRCm39)	missense	probably damaging	1.00
R6029:Cep152	UTSW	2	125,405,552 (GRCm39)	missense	probably benign	0.44
R6155:Cep152	UTSW	2	125,423,620 (GRCm39)	missense	probably benign
R6590:Cep152	UTSW	2	125,406,290 (GRCm39)	missense	probably damaging	1.00
R6690:Cep152	UTSW	2	125,406,290 (GRCm39)	missense	probably damaging	1.00
R6754:Cep152	UTSW	2	125,429,588 (GRCm39)	missense	probably damaging	0.99
R6798:Cep152	UTSW	2	125,408,447 (GRCm39)	splice site	probably null
R6816:Cep152	UTSW	2	125,436,947 (GRCm39)	missense	probably damaging	1.00
R6977:Cep152	UTSW	2	125,410,742 (GRCm39)	critical splice donor site	probably null
R7125:Cep152	UTSW	2	125,408,593 (GRCm39)	nonsense	probably null
R7146:Cep152	UTSW	2	125,456,325 (GRCm39)	missense	probably benign	0.06
R7588:Cep152	UTSW	2	125,411,546 (GRCm39)	missense	probably damaging	1.00
R7852:Cep152	UTSW	2	125,432,033 (GRCm39)	missense	possibly damaging	0.82
R7883:Cep152	UTSW	2	125,454,978 (GRCm39)	missense	possibly damaging	0.50
R8047:Cep152	UTSW	2	125,406,247 (GRCm39)	missense	probably benign	0.10
R8082:Cep152	UTSW	2	125,428,313 (GRCm39)	missense	probably benign
R8680:Cep152	UTSW	2	125,406,131 (GRCm39)	nonsense	probably null
R8739:Cep152	UTSW	2	125,461,975 (GRCm39)	missense	probably benign	0.06
R8744:Cep152	UTSW	2	125,436,791 (GRCm39)	critical splice donor site	probably null
R8896:Cep152	UTSW	2	125,408,155 (GRCm39)	missense	possibly damaging	0.55
R8924:Cep152	UTSW	2	125,444,778 (GRCm39)	missense	possibly damaging	0.91
R8971:Cep152	UTSW	2	125,421,770 (GRCm39)	nonsense	probably null
R9004:Cep152	UTSW	2	125,453,020 (GRCm39)	missense	probably benign	0.29
R9149:Cep152	UTSW	2	125,463,127 (GRCm39)	missense	probably damaging	1.00
R9149:Cep152	UTSW	2	125,461,803 (GRCm39)	missense	probably damaging	0.99
R9161:Cep152	UTSW	2	125,408,574 (GRCm39)	nonsense	probably null
R9239:Cep152	UTSW	2	125,425,830 (GRCm39)	missense	probably benign	0.02
R9249:Cep152	UTSW	2	125,405,904 (GRCm39)	missense	probably benign	0.38
R9258:Cep152	UTSW	2	125,421,356 (GRCm39)	nonsense	probably null
R9619:Cep152	UTSW	2	125,436,827 (GRCm39)	missense	probably benign	0.00
R9643:Cep152	UTSW	2	125,406,150 (GRCm39)	nonsense	probably null
R9775:Cep152	UTSW	2	125,423,660 (GRCm39)	nonsense	probably null
X0009:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0010:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0011:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0014:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0017:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0021:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0022:Cep152	UTSW	2	125,461,983 (GRCm39)	missense	probably benign	0.07
X0023:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0028:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0033:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0064:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
X0067:Cep152	UTSW	2	125,456,306 (GRCm39)	missense	probably damaging	1.00
Z1176:Cep152	UTSW	2	125,425,891 (GRCm39)	missense	probably benign	0.23
Z1177:Cep152	UTSW	2	125,461,624 (GRCm39)	missense	probably damaging	1.00
Z1177:Cep152	UTSW	2	125,456,244 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGCCCTCATAGTGATGGAGC -3'
(R):5'- GAAGACACCCTCACTGTACTTG -3'

Sequencing Primer
(F):5'- GTAGTCAATCCAGTAGACCTGCTG -3'
(R):5'- TGCCTATCTTCTAAAGGACACG -3'

Posted On

2018-02-28