Mutagenetix > Incidental Mutation

Incidental Mutation 'R1634:Cep152'

172961

Institutional Source

Beutler Lab

Gene Symbol

Cep152

Ensembl Gene

ENSMUSG00000068394

Gene Name

centrosomal protein 152

Synonyms

MMRRC Submission

039671-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1634 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

125405008-125467033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125425809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 852 (R852H)

Ref Sequence

ENSEMBL: ENSMUSP00000087208 (fasta)

Gene Model

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

AlphaFold

A2AUM9

Predicted Effect

probably benign
Transcript: ENSMUST00000089776
AA Change: R852H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: R852H

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: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.4%

Validation Efficiency

97% (67/69)

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
Adam2	A	T	14: 66,295,180 (GRCm39)	F222I	probably damaging	Het
Adam34	A	T	8: 44,105,127 (GRCm39)	C173S	possibly damaging	Het
Ahi1	T	C	10: 20,841,592 (GRCm39)	V293A	probably damaging	Het
AI182371	A	T	2: 34,976,497 (GRCm39)	Y223N	probably damaging	Het
Asmt	C	A	X: 169,109,564 (GRCm39)	F181L	probably damaging	Het
Axin1	T	A	17: 26,406,965 (GRCm39)	H519Q	probably damaging	Het
Cdc5l	A	T	17: 45,715,632 (GRCm39)	V660E	probably damaging	Het
Cpne4	T	C	9: 104,866,778 (GRCm39)	V230A	possibly damaging	Het
Cttnbp2	A	T	6: 18,408,656 (GRCm39)	N988K	probably benign	Het
D430041D05Rik	A	G	2: 104,051,556 (GRCm39)	I767T	probably damaging	Het
Dgki	A	G	6: 36,892,425 (GRCm39)	M851T	probably benign	Het
Dnah8	T	C	17: 30,932,072 (GRCm39)		probably null	Het
Dscaml1	A	G	9: 45,584,047 (GRCm39)	E504G	probably damaging	Het
Dzank1	G	A	2: 144,323,589 (GRCm39)	A618V	probably benign	Het
Entrep3	A	C	3: 89,095,401 (GRCm39)	Y511S	probably damaging	Het
Fat2	T	A	11: 55,158,510 (GRCm39)	S3403C	probably damaging	Het
Fat2	C	T	11: 55,175,545 (GRCm39)	V1723I	probably benign	Het
Flt1	A	T	5: 147,613,240 (GRCm39)	F334I	probably damaging	Het
Galnt12	G	T	4: 47,108,585 (GRCm39)		probably null	Het
Gzmc	T	C	14: 56,469,737 (GRCm39)	I188V	possibly damaging	Het
Herc1	T	C	9: 66,380,820 (GRCm39)	S3566P	possibly damaging	Het
Hoxb4	C	A	11: 96,211,099 (GRCm39)		probably benign	Het
Idh3b	C	T	2: 130,123,665 (GRCm39)	V141I	probably benign	Het
Kif24	A	G	4: 41,393,529 (GRCm39)	S1249P	probably benign	Het
Leo1	T	C	9: 75,373,542 (GRCm39)	Y656H	possibly damaging	Het
Map3k20	G	A	2: 72,240,521 (GRCm39)	W339*	probably null	Het
Map3k5	T	C	10: 20,012,657 (GRCm39)	V1259A	possibly damaging	Het
Masp2	A	G	4: 148,698,812 (GRCm39)	D631G	probably damaging	Het
Mink1	T	C	11: 70,499,706 (GRCm39)	S713P	probably benign	Het
Mpp7	A	T	18: 7,350,984 (GRCm39)	V571E	possibly damaging	Het
Nell1	A	G	7: 50,498,306 (GRCm39)	D574G	possibly damaging	Het
Obscn	T	C	11: 58,967,722 (GRCm39)	Y392C	probably damaging	Het
Odad2	A	G	18: 7,286,688 (GRCm39)	L181P	probably damaging	Het
Olfml2a	A	T	2: 38,850,231 (GRCm39)	Y649F	probably benign	Het
Or1f19	A	G	16: 3,411,073 (GRCm39)	D271G	probably benign	Het
Or4k45	T	C	2: 111,395,691 (GRCm39)	M33V	probably benign	Het
Prkcg	A	G	7: 3,371,986 (GRCm39)	D484G	probably damaging	Het
Rab27a	T	C	9: 72,982,851 (GRCm39)		probably null	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rgl1	C	T	1: 152,400,523 (GRCm39)	R624H	probably damaging	Het
Ric8b	G	A	10: 84,806,612 (GRCm39)	G159D	probably damaging	Het
Sbno2	C	A	10: 79,896,468 (GRCm39)	A880S	possibly damaging	Het
Scn9a	A	G	2: 66,318,361 (GRCm39)	S1477P	probably damaging	Het
Sec22a	T	C	16: 35,139,243 (GRCm39)		probably benign	Het
Snx14	T	C	9: 88,267,792 (GRCm39)	I714M	probably benign	Het
Snx14	T	C	9: 88,289,543 (GRCm39)		probably benign	Het
Sphk2	T	A	7: 45,360,964 (GRCm39)	T347S	probably benign	Het
Spns1	C	T	7: 125,970,343 (GRCm39)		probably benign	Het
Susd2	A	G	10: 75,473,389 (GRCm39)	V675A	probably benign	Het
Sytl2	A	T	7: 90,044,390 (GRCm39)	D566V	probably damaging	Het
Tcf25	T	A	8: 124,123,830 (GRCm39)	I464N	possibly damaging	Het
Tex261	A	T	6: 83,752,004 (GRCm39)	I49N	possibly damaging	Het
Tjp1	A	G	7: 64,952,700 (GRCm39)	F1545L	possibly damaging	Het
Tmem176b	A	G	6: 48,811,500 (GRCm39)	S216P	probably damaging	Het
Topaz1	C	T	9: 122,609,740 (GRCm39)		probably benign	Het
Tra2a	C	T	6: 49,227,891 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,553,126 (GRCm39)	F22794S	possibly damaging	Het
Uox	G	A	3: 146,318,138 (GRCm39)	W93*	probably null	Het
Zan	A	T	5: 137,411,052 (GRCm39)		probably benign	Het
Zfp106	G	A	2: 120,364,158 (GRCm39)	R750*	probably null	Het
Zfp638	A	T	6: 83,956,894 (GRCm39)		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
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
R6239:Cep152	UTSW	2	125,421,332 (GRCm39)	missense	probably benign	0.40
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'- CCAGTTCAAAGGCAGTGTTTCCCAG -3'
(R):5'- GCCCAGTGTGCAAAGCTCTAAACTC -3'

Sequencing Primer
(F):5'- AAGGCAGTGTTTCCCAGATTTTC -3'
(R):5'- CAGTGACAACTTTTGTACCACAGTG -3'

Posted On

2014-04-24