Mutagenetix > Incidental Mutation

Incidental Mutation 'R6816:Cep152'

537317

Institutional Source

Beutler Lab

Gene Symbol

Cep152

Ensembl Gene

ENSMUSG00000068394

Gene Name

centrosomal protein 152

Synonyms

MMRRC Submission

044928-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6816 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125563088-125625113 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125595027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 531 (E531G)

Ref Sequence

ENSEMBL: ENSMUSP00000087208 (fasta)

Gene Model

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

AlphaFold

A2AUM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000089776
AA Change: E531G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: E531G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

96% (49/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 94,941,683 (GRCm38)	T458A	probably damaging	Het
Ankrd36	T	G	11: 5,643,765 (GRCm38)	F457V	possibly damaging	Het
Dpf1	A	C	7: 29,311,662 (GRCm38)	D162A	possibly damaging	Het
E2f8	A	T	7: 48,875,583 (GRCm38)	Y214N	possibly damaging	Het
Fer1l5	A	T	1: 36,406,510 (GRCm38)	Y786F	possibly damaging	Het
Fhod1	G	T	8: 105,330,544 (GRCm38)	Q933K	probably benign	Het
Gdap2	T	C	3: 100,191,705 (GRCm38)		probably null	Het
Gm6205	A	T	5: 94,683,914 (GRCm38)	Q260L	possibly damaging	Het
Gm996	C	CTCTA	2: 25,579,721 (GRCm38)		probably null	Het
Grin2d	A	G	7: 45,833,682 (GRCm38)		probably benign	Het
Hgs	T	A	11: 120,471,571 (GRCm38)	V112D	probably damaging	Het
Hist1h2bp	C	T	13: 21,787,777 (GRCm38)	S88L	probably benign	Het
Igf2r	A	T	17: 12,714,082 (GRCm38)	V851E	probably damaging	Het
Igfn1	T	A	1: 135,959,728 (GRCm38)	T2533S	probably benign	Het
Iqch	C	T	9: 63,480,759 (GRCm38)	V750I	probably benign	Het
Itih2	A	G	2: 10,105,706 (GRCm38)	Y525H	probably damaging	Het
Kcnu1	C	T	8: 25,937,734 (GRCm38)	Q360*	probably null	Het
Klk1b26	A	G	7: 44,016,868 (GRCm38)	N245S	probably benign	Het
Kmt2c	T	C	5: 25,405,532 (GRCm38)		probably null	Het
Lhpp	T	C	7: 132,634,033 (GRCm38)	S116P	probably benign	Het
Madcam1	A	G	10: 79,665,440 (GRCm38)	D113G	probably damaging	Het
Magi3	A	T	3: 104,089,911 (GRCm38)		probably null	Het
Map3k9	A	G	12: 81,722,254 (GRCm38)	S1007P	possibly damaging	Het
Mkrn2	C	T	6: 115,611,728 (GRCm38)	P144L	probably damaging	Het
Mon1a	T	C	9: 107,900,410 (GRCm38)	S171P	probably damaging	Het
Nrarp	T	C	2: 25,181,307 (GRCm38)	L66P	probably damaging	Het
P2ry1	T	A	3: 61,003,832 (GRCm38)	F131I	probably benign	Het
Pdzk1	A	G	3: 96,854,570 (GRCm38)	Q166R	probably benign	Het
Pigt	G	T	2: 164,501,132 (GRCm38)	V249F	probably damaging	Het
Ppp1r16b	G	T	2: 158,761,675 (GRCm38)	V407L	probably benign	Het
Rab6a	G	T	7: 100,629,873 (GRCm38)	E73D	probably damaging	Het
Ralb	C	A	1: 119,477,982 (GRCm38)	G33*	probably null	Het
Sema3b	T	A	9: 107,600,350 (GRCm38)	M491L	probably benign	Het
Sema3c	A	C	5: 17,670,465 (GRCm38)	D40A	probably benign	Het
Slc22a1	T	C	17: 12,652,483 (GRCm38)	N464D	possibly damaging	Het
Spire2	T	A	8: 123,359,413 (GRCm38)	S295T	probably benign	Het
Stat3	T	G	11: 100,911,267 (GRCm38)	Q32P	probably damaging	Het
Sulf2	T	C	2: 166,082,754 (GRCm38)	T471A	probably benign	Het
Sult2b1	A	G	7: 45,733,678 (GRCm38)	W227R	probably damaging	Het
Syt2	T	A	1: 134,745,800 (GRCm38)	I294N	probably damaging	Het
Taar8b	A	T	10: 24,092,181 (GRCm38)	F38L	probably benign	Het
Tbl2	T	A	5: 135,159,215 (GRCm38)		probably null	Het
Tex48	G	A	4: 63,611,955 (GRCm38)	S9L	probably damaging	Het
Tmprss2	A	T	16: 97,568,467 (GRCm38)	M369K	possibly damaging	Het
Trip12	A	T	1: 84,793,714 (GRCm38)	S280T	probably damaging	Het
Tspoap1	T	C	11: 87,765,665 (GRCm38)	V263A	probably benign	Het
Vmn2r74	T	A	7: 85,961,413 (GRCm38)	R24*	probably null	Het
Wdr35	G	A	12: 9,027,724 (GRCm38)		probably null	Het
Zfp202	A	G	9: 40,211,813 (GRCm38)	R624G	probably damaging	Het

Other mutations in Cep152

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Cep152	APN	2	125,563,888 (GRCm38)	missense	probably benign	0.01
IGL00561:Cep152	APN	2	125,563,723 (GRCm38)	nonsense	probably null
IGL01082:Cep152	APN	2	125,569,545 (GRCm38)	splice site	probably benign
IGL01420:Cep152	APN	2	125,563,652 (GRCm38)	missense	possibly damaging	0.49
IGL01832:Cep152	APN	2	125,618,494 (GRCm38)	nonsense	probably null
IGL02106:Cep152	APN	2	125,602,936 (GRCm38)	splice site	probably null
IGL02124:Cep152	APN	2	125,563,461 (GRCm38)	missense	probably benign	0.23
IGL02349:Cep152	APN	2	125,594,956 (GRCm38)	missense	probably damaging	0.99
IGL02541:Cep152	APN	2	125,605,354 (GRCm38)	missense	probably damaging	1.00
IGL02659:Cep152	APN	2	125,579,549 (GRCm38)	missense	probably damaging	0.96
IGL02711:Cep152	APN	2	125,563,942 (GRCm38)	missense	possibly damaging	0.93
IGL02737:Cep152	APN	2	125,586,474 (GRCm38)	missense	possibly damaging	0.71
IGL03060:Cep152	APN	2	125,619,987 (GRCm38)	splice site	probably benign
IGL03095:Cep152	APN	2	125,618,451 (GRCm38)	missense	probably benign	0.00
IGL03186:Cep152	APN	2	125,563,975 (GRCm38)	missense	probably benign
IGL03306:Cep152	APN	2	125,605,408 (GRCm38)	missense	possibly damaging	0.90
R0034:Cep152	UTSW	2	125,583,893 (GRCm38)	missense	probably benign	0.00
R0034:Cep152	UTSW	2	125,583,893 (GRCm38)	missense	probably benign	0.00
R0079:Cep152	UTSW	2	125,618,453 (GRCm38)	missense	possibly damaging	0.92
R0244:Cep152	UTSW	2	125,564,214 (GRCm38)	missense	probably benign	0.00
R0390:Cep152	UTSW	2	125,576,869 (GRCm38)	splice site	probably benign
R0462:Cep152	UTSW	2	125,583,934 (GRCm38)	missense	possibly damaging	0.64
R0480:Cep152	UTSW	2	125,581,719 (GRCm38)	missense	possibly damaging	0.95
R0595:Cep152	UTSW	2	125,595,063 (GRCm38)	missense	probably damaging	0.99
R0973:Cep152	UTSW	2	125,594,899 (GRCm38)	missense	probably benign	0.00
R0973:Cep152	UTSW	2	125,594,899 (GRCm38)	missense	probably benign	0.00
R1634:Cep152	UTSW	2	125,583,889 (GRCm38)	missense	probably benign	0.00
R1664:Cep152	UTSW	2	125,566,254 (GRCm38)	missense	probably benign	0.38
R1693:Cep152	UTSW	2	125,566,254 (GRCm38)	missense	probably benign	0.38
R1887:Cep152	UTSW	2	125,620,305 (GRCm38)	missense	probably benign	0.00
R1930:Cep152	UTSW	2	125,618,371 (GRCm38)	critical splice donor site	probably null
R2178:Cep152	UTSW	2	125,580,034 (GRCm38)	splice site	probably null
R2225:Cep152	UTSW	2	125,581,784 (GRCm38)	missense	probably damaging	1.00
R2324:Cep152	UTSW	2	125,563,462 (GRCm38)	missense	probably benign	0.38
R2416:Cep152	UTSW	2	125,564,172 (GRCm38)	nonsense	probably null
R2845:Cep152	UTSW	2	125,587,974 (GRCm38)	missense	probably damaging	1.00
R3753:Cep152	UTSW	2	125,625,052 (GRCm38)	unclassified	probably benign
R4212:Cep152	UTSW	2	125,620,001 (GRCm38)	missense	probably benign	0.00
R4304:Cep152	UTSW	2	125,563,723 (GRCm38)	nonsense	probably null
R4371:Cep152	UTSW	2	125,613,047 (GRCm38)	missense	probably damaging	1.00
R4399:Cep152	UTSW	2	125,587,980 (GRCm38)	missense	possibly damaging	0.63
R4536:Cep152	UTSW	2	125,602,947 (GRCm38)	splice site	probably null
R4713:Cep152	UTSW	2	125,587,948 (GRCm38)	missense	possibly damaging	0.79
R4777:Cep152	UTSW	2	125,564,095 (GRCm38)	missense	probably benign	0.29
R4779:Cep152	UTSW	2	125,568,892 (GRCm38)	missense	possibly damaging	0.52
R4785:Cep152	UTSW	2	125,586,329 (GRCm38)	critical splice donor site	probably null
R4816:Cep152	UTSW	2	125,563,754 (GRCm38)	missense	probably damaging	1.00
R4847:Cep152	UTSW	2	125,618,474 (GRCm38)	missense	possibly damaging	0.62
R4898:Cep152	UTSW	2	125,586,381 (GRCm38)	missense	probably benign	0.03
R4934:Cep152	UTSW	2	125,611,096 (GRCm38)	missense	possibly damaging	0.52
R4997:Cep152	UTSW	2	125,586,351 (GRCm38)	missense	probably benign	0.00
R5068:Cep152	UTSW	2	125,571,816 (GRCm38)	missense	probably benign	0.25
R5183:Cep152	UTSW	2	125,566,638 (GRCm38)	missense	probably damaging	1.00
R5198:Cep152	UTSW	2	125,587,624 (GRCm38)	missense	probably benign
R5261:Cep152	UTSW	2	125,564,205 (GRCm38)	missense	probably benign	0.06
R5272:Cep152	UTSW	2	125,611,030 (GRCm38)	missense	probably benign	0.27
R5284:Cep152	UTSW	2	125,580,021 (GRCm38)	missense	probably damaging	1.00
R6029:Cep152	UTSW	2	125,563,632 (GRCm38)	missense	probably benign	0.44
R6155:Cep152	UTSW	2	125,581,700 (GRCm38)	missense	probably benign
R6239:Cep152	UTSW	2	125,579,412 (GRCm38)	missense	probably benign	0.40
R6590:Cep152	UTSW	2	125,564,370 (GRCm38)	missense	probably damaging	1.00
R6690:Cep152	UTSW	2	125,564,370 (GRCm38)	missense	probably damaging	1.00
R6754:Cep152	UTSW	2	125,587,668 (GRCm38)	missense	probably damaging	0.99
R6798:Cep152	UTSW	2	125,566,527 (GRCm38)	splice site	probably null
R6977:Cep152	UTSW	2	125,568,822 (GRCm38)	critical splice donor site	probably null
R7125:Cep152	UTSW	2	125,566,673 (GRCm38)	nonsense	probably null
R7146:Cep152	UTSW	2	125,614,405 (GRCm38)	missense	probably benign	0.06
R7588:Cep152	UTSW	2	125,569,626 (GRCm38)	missense	probably damaging	1.00
R7852:Cep152	UTSW	2	125,590,113 (GRCm38)	missense	possibly damaging	0.82
R7883:Cep152	UTSW	2	125,613,058 (GRCm38)	missense	possibly damaging	0.50
R8047:Cep152	UTSW	2	125,564,327 (GRCm38)	missense	probably benign	0.10
R8082:Cep152	UTSW	2	125,586,393 (GRCm38)	missense	probably benign
R8680:Cep152	UTSW	2	125,564,211 (GRCm38)	nonsense	probably null
R8739:Cep152	UTSW	2	125,620,055 (GRCm38)	missense	probably benign	0.06
R8744:Cep152	UTSW	2	125,594,871 (GRCm38)	critical splice donor site	probably null
R8896:Cep152	UTSW	2	125,566,235 (GRCm38)	missense	possibly damaging	0.55
R8924:Cep152	UTSW	2	125,602,858 (GRCm38)	missense	possibly damaging	0.91
R8971:Cep152	UTSW	2	125,579,850 (GRCm38)	nonsense	probably null
R9004:Cep152	UTSW	2	125,611,100 (GRCm38)	missense	probably benign	0.29
R9149:Cep152	UTSW	2	125,621,207 (GRCm38)	missense	probably damaging	1.00
R9149:Cep152	UTSW	2	125,619,883 (GRCm38)	missense	probably damaging	0.99
R9161:Cep152	UTSW	2	125,566,654 (GRCm38)	nonsense	probably null
R9239:Cep152	UTSW	2	125,583,910 (GRCm38)	missense	probably benign	0.02
R9249:Cep152	UTSW	2	125,563,984 (GRCm38)	missense	probably benign	0.38
R9258:Cep152	UTSW	2	125,579,436 (GRCm38)	nonsense	probably null
R9619:Cep152	UTSW	2	125,594,907 (GRCm38)	missense	probably benign	0.00
R9643:Cep152	UTSW	2	125,564,230 (GRCm38)	nonsense	probably null
R9775:Cep152	UTSW	2	125,581,740 (GRCm38)	nonsense	probably null
X0009:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0010:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0011:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0014:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0017:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0021:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0022:Cep152	UTSW	2	125,620,063 (GRCm38)	missense	probably benign	0.07
X0023:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0028:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0033:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0064:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
X0067:Cep152	UTSW	2	125,614,386 (GRCm38)	missense	probably damaging	1.00
Z1176:Cep152	UTSW	2	125,583,971 (GRCm38)	missense	probably benign	0.23
Z1177:Cep152	UTSW	2	125,619,704 (GRCm38)	missense	probably damaging	1.00
Z1177:Cep152	UTSW	2	125,614,324 (GRCm38)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TTACGTGTACAGGTTGCAGG -3'
(R):5'- TTCCAAACCCTTTAGCAGCG -3'

Sequencing Primer
(F):5'- TACAGGTTGCAGGGTCTCAC -3'
(R):5'- CAAACCCTTTAGCAGCGTTTAG -3'

Posted On

2018-10-18