Mutagenetix > Incidental Mutation

Incidental Mutation 'R8680:Cep152'

661652

Institutional Source

Beutler Lab

Gene Symbol

Cep152

Ensembl Gene

ENSMUSG00000068394

Gene Name

centrosomal protein 152

Synonyms

MMRRC Submission

068535-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125405008-125467033 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 125406131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 1467 (S1467*)

Ref Sequence

ENSEMBL: ENSMUSP00000087208 (fasta)

Gene Model

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

AlphaFold

A2AUM9

Predicted Effect

probably null
Transcript: ENSMUST00000089776
AA Change: S1467*

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: S1467*

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

0.9579

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	C	16: 90,852,551 (GRCm39)	Y195C	probably damaging	Het
Abcb1a	T	A	5: 8,735,371 (GRCm39)	F159L	probably damaging	Het
Adam6b	A	G	12: 113,454,371 (GRCm39)	N396S	probably benign	Het
Adamts15	T	C	9: 30,823,055 (GRCm39)	M338V	possibly damaging	Het
Adamts7	T	A	9: 90,077,321 (GRCm39)	H1329Q	probably damaging	Het
Aim2	C	T	1: 173,289,786 (GRCm39)	P243L	probably damaging	Het
Ankdd1a	T	C	9: 65,412,418 (GRCm39)	D311G	probably damaging	Het
Apon	A	T	10: 128,090,428 (GRCm39)	E35D	probably benign	Het
Atp1a4	T	C	1: 172,078,566 (GRCm39)	D224G	probably damaging	Het
Atp6v0a1	T	A	11: 100,953,229 (GRCm39)	*839R	probably null	Het
Bco2	A	G	9: 50,461,878 (GRCm39)	L42P	probably damaging	Het
Bicral	T	A	17: 47,141,873 (GRCm39)		probably benign	Het
Ccna1	T	C	3: 54,955,878 (GRCm39)	Q306R	probably benign	Het
Cfap44	T	A	16: 44,225,085 (GRCm39)	V110E	probably damaging	Het
Clip2	G	A	5: 134,531,462 (GRCm39)	A781V	probably benign	Het
Cps1	A	T	1: 67,243,772 (GRCm39)	I1083F	probably damaging	Het
Cux1	A	G	5: 136,336,710 (GRCm39)	V934A	possibly damaging	Het
Depdc5	T	C	5: 33,101,382 (GRCm39)	F891L	possibly damaging	Het
Dnai7	T	A	6: 145,127,542 (GRCm39)	I456F	probably benign	Het
Dnajc13	A	G	9: 104,057,338 (GRCm39)	V1554A	probably benign	Het
Echs1	A	T	7: 139,690,499 (GRCm39)	M191K	probably damaging	Het
Eif6	T	A	2: 155,664,772 (GRCm39)	D238V	probably benign	Het
Fat2	G	A	11: 55,144,692 (GRCm39)	L4061F	probably benign	Het
Fat3	T	C	9: 15,908,703 (GRCm39)	D2433G	probably damaging	Het
Flt3	A	G	5: 147,320,265 (GRCm39)	V33A	probably benign	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gpr155	T	C	2: 73,174,039 (GRCm39)	E790G	probably damaging	Het
Ighv1-67	A	T	12: 115,567,861 (GRCm39)	V17E	probably damaging	Het
Klra9	T	A	6: 130,165,639 (GRCm39)	R125S	probably damaging	Het
Leo1	T	C	9: 75,353,277 (GRCm39)		probably null	Het
Map2	G	T	1: 66,460,872 (GRCm39)	R1556L	probably damaging	Het
Megf8	A	G	7: 25,059,166 (GRCm39)		probably null	Het
Meikin	T	C	11: 54,317,477 (GRCm39)	I426T	possibly damaging	Het
Muc16	A	T	9: 18,556,015 (GRCm39)	V3426E	unknown	Het
Or4a15	T	A	2: 89,193,065 (GRCm39)	Y236F	probably benign	Het
Or51af1	G	A	7: 103,142,029 (GRCm39)	L19F	probably damaging	Het
Or52n2c	A	G	7: 104,574,620 (GRCm39)	L117P	probably damaging	Het
Or7e168	T	G	9: 19,720,105 (GRCm39)	S164A	possibly damaging	Het
Or8k25	T	C	2: 86,243,935 (GRCm39)	I154V	probably benign	Het
Or9s13	T	C	1: 92,547,643 (GRCm39)	V5A	probably benign	Het
Otogl	A	G	10: 107,747,936 (GRCm39)		probably null	Het
Palm3	T	C	8: 84,756,504 (GRCm39)	L672P	probably damaging	Het
Perm1	A	G	4: 156,302,091 (GRCm39)	T212A	probably benign	Het
Poc1a	T	C	9: 106,226,960 (GRCm39)	M400T	probably benign	Het
Pou6f2	T	A	13: 18,414,196 (GRCm39)	Q193L	unknown	Het
Ppl	C	T	16: 4,905,300 (GRCm39)	R1665H	probably benign	Het
Ppp4r3b	T	C	11: 29,123,449 (GRCm39)		probably null	Het
Ptger1	T	C	8: 84,394,654 (GRCm39)	S44P	probably damaging	Het
Pzp	T	C	6: 128,473,009 (GRCm39)	T787A	probably benign	Het
Rab44	A	T	17: 29,358,642 (GRCm39)	R277*	probably null	Het
Rasgef1a	T	A	6: 118,064,088 (GRCm39)	I334K	probably damaging	Het
Rfx1	T	C	8: 84,818,084 (GRCm39)	V554A	possibly damaging	Het
Ripk1	T	A	13: 34,214,032 (GRCm39)	I518K	possibly damaging	Het
Rpl22	A	G	4: 152,416,763 (GRCm39)	Y90C	probably damaging	Het
Rps27a	C	A	11: 29,495,998 (GRCm39)	R118L	probably benign	Het
Scmh1	T	A	4: 120,319,331 (GRCm39)	S19T	probably benign	Het
Scn10a	C	T	9: 119,520,509 (GRCm39)		probably null	Het
Sema4c	A	T	1: 36,589,867 (GRCm39)	S496T	probably benign	Het
Serpina3i	T	C	12: 104,231,387 (GRCm39)	V8A	possibly damaging	Het
Sis	G	A	3: 72,867,628 (GRCm39)	T139M	probably damaging	Het
Skic3	A	T	13: 76,303,587 (GRCm39)	H1227L	probably benign	Het
Slc45a2	T	A	15: 11,000,972 (GRCm39)	S24T	probably benign	Het
Slc5a11	A	G	7: 122,866,975 (GRCm39)	I423M	probably benign	Het
Slc7a10	G	A	7: 34,885,997 (GRCm39)	G31S	probably benign	Het
Sowahc	A	G	10: 59,059,001 (GRCm39)	N379S	probably benign	Het
Stat5a	T	C	11: 100,774,714 (GRCm39)	M741T	unknown	Het
Tcf15	T	C	2: 151,986,020 (GRCm39)	S159P	probably benign	Het
Tdrd5	C	A	1: 156,098,788 (GRCm39)	R669L	possibly damaging	Het
Tln1	T	C	4: 43,553,041 (GRCm39)	E350G	possibly damaging	Het
Trim12c	T	G	7: 103,997,271 (GRCm39)	N95T		Het
Urb1	T	C	16: 90,571,513 (GRCm39)	T1099A	probably benign	Het
Vmn1r44	T	A	6: 89,870,578 (GRCm39)	V108D	probably damaging	Het
Vmn2r65	A	G	7: 84,589,388 (GRCm39)	Y843H	probably benign	Het
Vmn2r68	A	G	7: 84,871,321 (GRCm39)	I654T	possibly damaging	Het
Vps13a	T	C	19: 16,623,270 (GRCm39)	N2797S	possibly damaging	Het
Wscd2	T	C	5: 113,712,235 (GRCm39)	Y385H	probably damaging	Het
Xdh	T	C	17: 74,229,500 (GRCm39)	I318V	probably benign	Het
Xrcc3	T	A	12: 111,774,313 (GRCm39)	K172M	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
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
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'- TTTCGGCACCTCCAAGGAAG -3'
(R):5'- TCCTTTGGCTTCAGAGATGCTG -3'

Sequencing Primer
(F):5'- TCAGAGCCAGCTCCAAGTG -3'
(R):5'- CTGACGGGCACTGAAAGATC -3'

Posted On

2021-03-08