Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02349:Cep152'

289410

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cep152

Ensembl Gene

ENSMUSG00000068394

Gene Name

centrosomal protein 152

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02349

Quality Score

Status

Chromosome

Chromosomal Location

125405008-125467033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125436876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 555 (S555P)

Ref Sequence

ENSEMBL: ENSMUSP00000087208 (fasta)

Gene Model

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

AlphaFold

A2AUM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000089776
AA Change: S555P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: S555P

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

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,611,462 (GRCm39)	I484V	probably benign	Het
Acly	C	T	11: 100,410,505 (GRCm39)	E158K	probably benign	Het
Akap3	T	A	6: 126,837,226 (GRCm39)	D3E	probably benign	Het
Alg8	A	G	7: 97,029,101 (GRCm39)	N152S	possibly damaging	Het
Ano7	A	G	1: 93,319,212 (GRCm39)	T323A	probably benign	Het
Bmp1	T	C	14: 70,744,989 (GRCm39)	Y252C	possibly damaging	Het
Cacnb3	A	T	15: 98,538,842 (GRCm39)	K159*	probably null	Het
Capns2	T	A	8: 93,628,690 (GRCm39)	V193D	probably benign	Het
Cct2	A	G	10: 116,889,044 (GRCm39)	I48T	probably benign	Het
Col5a3	T	C	9: 20,683,657 (GRCm39)	E1533G	unknown	Het
Cyp17a1	A	G	19: 46,655,936 (GRCm39)	L451P	probably damaging	Het
Dgcr8	T	C	16: 18,098,170 (GRCm39)	E407G	possibly damaging	Het
Dhx57	T	A	17: 80,563,000 (GRCm39)	N876Y	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Fgfr2	A	G	7: 129,844,336 (GRCm39)	Y50H	probably damaging	Het
Gars1	T	A	6: 55,025,049 (GRCm39)		probably benign	Het
Gfpt2	A	T	11: 49,698,530 (GRCm39)	I42F	probably benign	Het
Glcci1	A	G	6: 8,558,581 (GRCm39)	K35E	probably damaging	Het
Gpatch1	T	A	7: 35,006,680 (GRCm39)	M163L	probably damaging	Het
Gpr132	T	C	12: 112,816,475 (GRCm39)	Y117C	probably damaging	Het
Ints1	G	A	5: 139,754,223 (GRCm39)	P650S	probably damaging	Het
Itga2b	T	C	11: 102,352,189 (GRCm39)	D464G	probably damaging	Het
Kansl2	C	A	15: 98,427,327 (GRCm39)	G185C	probably damaging	Het
Kat6b	T	A	14: 21,687,661 (GRCm39)	M570K	probably damaging	Het
Macir	A	G	1: 97,573,777 (GRCm39)	L96P	probably damaging	Het
Map3k19	T	A	1: 127,751,506 (GRCm39)	D615V	possibly damaging	Het
Map3k7cl	A	G	16: 87,352,901 (GRCm39)		probably benign	Het
Msto1	A	C	3: 88,818,205 (GRCm39)	S360R	possibly damaging	Het
Myo15b	C	A	11: 115,753,931 (GRCm39)		probably benign	Het
Nhlrc2	T	C	19: 56,580,151 (GRCm39)	V428A	possibly damaging	Het
Or13a28	T	C	7: 140,218,384 (GRCm39)	F257L	probably benign	Het
Or1j19	A	C	2: 36,677,058 (GRCm39)	T174P	possibly damaging	Het
Or51a39	G	A	7: 102,363,333 (GRCm39)	R96C	probably damaging	Het
Or51f2	A	T	7: 102,527,116 (GRCm39)	Y263F	probably benign	Het
Or5p51	A	G	7: 107,444,812 (GRCm39)	S43P	probably benign	Het
Or8b12	T	A	9: 37,657,502 (GRCm39)	M24K	probably benign	Het
Pcm1	G	T	8: 41,741,192 (GRCm39)		probably null	Het
Plekhg3	A	T	12: 76,609,074 (GRCm39)	N149I	probably damaging	Het
Rbp3	C	A	14: 33,677,676 (GRCm39)	H541Q	probably damaging	Het
Rgp1	T	C	4: 43,581,236 (GRCm39)		probably null	Het
Scyl2	A	T	10: 89,493,800 (GRCm39)		probably benign	Het
Tas2r144	A	C	6: 42,193,010 (GRCm39)	H250P	probably benign	Het
Tmppe	T	C	9: 114,234,268 (GRCm39)	V189A	probably benign	Het
Trp53bp1	G	A	2: 121,029,555 (GRCm39)	S1875L	probably damaging	Het
Txnl4a	T	A	18: 80,261,944 (GRCm39)	L60H	probably damaging	Het
Upp2	A	G	2: 58,667,898 (GRCm39)	D217G	probably benign	Het
Vmn2r74	A	G	7: 85,601,724 (GRCm39)	L638P	probably damaging	Het
Vnn1	A	G	10: 23,774,401 (GRCm39)	N148S	possibly damaging	Het
Xrcc1	C	T	7: 24,266,467 (GRCm39)	Q241*	probably null	Het
Zfp990	A	G	4: 145,257,447 (GRCm39)		probably benign	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
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
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

Posted On

2015-04-16