Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Cep152'

212426

Institutional Source

Beutler Lab

Gene Symbol

Cep152

Ensembl Gene

ENSMUSG00000068394

Gene Name

centrosomal protein 152

Synonyms

MMRRC Submission

038328-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0034 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

125405008-125467033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125425813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 851 (A851T)

Ref Sequence

ENSEMBL: ENSMUSP00000087208 (fasta)

Gene Model

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

AlphaFold

A2AUM9

Predicted Effect

probably benign
Transcript: ENSMUST00000089776
AA Change: A851T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: A851T

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: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	C	T	7: 136,989,321 (GRCm39)	R60Q	probably benign	Het
Angpt4	C	T	2: 151,771,311 (GRCm39)	T209I	probably benign	Het
Ap3b1	T	C	13: 94,616,393 (GRCm39)		probably benign	Het
Aplp1	A	C	7: 30,143,867 (GRCm39)	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299 (GRCm39)	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846 (GRCm38)	H844L	probably damaging	Het
Cd14	A	G	18: 36,859,288 (GRCm39)	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,819,225 (GRCm39)	V135I	probably damaging	Het
Cfap74	C	T	4: 155,545,344 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,175,708 (GRCm39)	I47L	probably benign	Het
Dnaaf9	T	C	2: 130,578,492 (GRCm39)	H664R	probably damaging	Het
Eef1d	T	C	15: 75,774,808 (GRCm39)	T200A	probably benign	Het
Exoc1l	A	G	5: 76,664,377 (GRCm39)	I155M	probably damaging	Het
Faap100	A	T	11: 120,262,973 (GRCm39)	M795K	probably benign	Het
Gabpb1	C	T	2: 126,500,454 (GRCm39)	R15Q	possibly damaging	Het
Gata4	C	A	14: 63,438,933 (GRCm39)	M381I	probably benign	Het
Gm5114	A	G	7: 39,058,282 (GRCm39)	S446P	possibly damaging	Het
Gnb1	T	A	4: 155,636,146 (GRCm39)	N155K	probably benign	Het
Haspin	G	A	11: 73,029,044 (GRCm39)	T15M	probably damaging	Het
Heatr5a	A	G	12: 51,971,955 (GRCm39)	L745P	probably damaging	Het
Kcng3	T	A	17: 83,895,812 (GRCm39)		probably benign	Het
Kif15	A	T	9: 122,828,350 (GRCm39)	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,135,397 (GRCm39)		probably benign	Het
Kif9	G	A	9: 110,348,679 (GRCm39)	C738Y	probably benign	Het
Kifc2	G	T	15: 76,551,300 (GRCm39)	C613F	probably benign	Het
Klf12	A	G	14: 100,224,865 (GRCm39)		probably null	Het
Lrp1	A	T	10: 127,381,520 (GRCm39)	I3826N	probably benign	Het
Map2k4	A	G	11: 65,610,437 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,093,913 (GRCm39)	S2006P	probably damaging	Het
Or51m1	T	C	7: 103,578,708 (GRCm39)	V226A	probably benign	Het
Pax4	T	C	6: 28,442,448 (GRCm39)	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,455,137 (GRCm39)	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,367,405 (GRCm39)	G768S	probably benign	Het
Plb1	G	T	5: 32,430,457 (GRCm39)	G138V	probably benign	Het
Poln	A	C	5: 34,272,762 (GRCm39)	V398G	possibly damaging	Het
Poteg	A	G	8: 27,952,105 (GRCm39)		probably benign	Het
Rapgef1	C	A	2: 29,614,780 (GRCm39)		probably benign	Het
Rbm43	A	T	2: 51,815,722 (GRCm39)	D166E	probably benign	Het
Rhobtb2	T	C	14: 70,026,137 (GRCm39)	T602A	probably benign	Het
Samd3	G	A	10: 26,147,398 (GRCm39)		probably benign	Het
Sbno2	A	C	10: 79,894,174 (GRCm39)		probably benign	Het
Sec1	A	G	7: 45,328,759 (GRCm39)	V96A	probably benign	Het
Senp7	A	C	16: 55,973,933 (GRCm39)	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,955,902 (GRCm39)	V301A	probably damaging	Het
Sgpl1	A	T	10: 60,938,392 (GRCm39)	M467K	probably damaging	Het
Slc22a26	A	G	19: 7,779,618 (GRCm39)	I66T	probably benign	Het
Stra6	G	A	9: 58,058,752 (GRCm39)		probably null	Het
Tfrc	T	A	16: 32,434,214 (GRCm39)		probably null	Het
Tmem30b	T	C	12: 73,592,779 (GRCm39)	Y112C	probably damaging	Het
Trap1	A	T	16: 3,886,894 (GRCm39)		probably benign	Het
Trpc1	A	G	9: 95,631,814 (GRCm39)	S43P	probably damaging	Het
Tsku	T	C	7: 98,001,870 (GRCm39)	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,322,292 (GRCm39)	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,314,738 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,435 (GRCm39)	W364R	probably damaging	Het
Wnk2	G	T	13: 49,221,556 (GRCm39)	T377K	possibly damaging	Het
Zfta	C	A	19: 7,397,724 (GRCm39)	H90Q	probably damaging	Het
Zscan20	T	C	4: 128,479,455 (GRCm39)	N1012S	probably damaging	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
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
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

2014-07-02