Mutagenetix > Incidental Mutation

Incidental Mutation 'R6754:Cep152'

530944

Institutional Source

Beutler Lab

Gene Symbol

Cep152

Ensembl Gene

ENSMUSG00000068394

Gene Name

centrosomal protein 152

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6754 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125405008-125467033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125429588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 723 (V723A)

Ref Sequence

ENSEMBL: ENSMUSP00000087208 (fasta)

Gene Model

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

AlphaFold

A2AUM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000089776
AA Change: V723A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: V723A

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	C	17: 57,190,358 (GRCm39)	F352L	probably damaging	Het
Acta2	T	C	19: 34,222,383 (GRCm39)	D246G	probably damaging	Het
Ank2	A	G	3: 126,890,488 (GRCm39)		probably benign	Het
Bmpr2	T	A	1: 59,909,439 (GRCm39)	I971N	probably damaging	Het
C9	C	A	15: 6,519,424 (GRCm39)	C8*	probably null	Het
Casp2	T	A	6: 42,246,264 (GRCm39)	N207K	probably damaging	Het
Cd302	T	G	2: 60,102,451 (GRCm39)	D56A	probably benign	Het
Cecr2	C	T	6: 120,734,539 (GRCm39)	P605S	probably damaging	Het
Col17a1	C	T	19: 47,639,160 (GRCm39)		probably null	Het
Ctsk	T	C	3: 95,409,996 (GRCm39)	V168A	probably damaging	Het
Cyp2c54	A	T	19: 40,060,004 (GRCm39)	N176K	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
F5	A	G	1: 164,021,332 (GRCm39)	D1269G	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Hivep2	G	A	10: 14,005,382 (GRCm39)	G660D	probably benign	Het
Hspb3	A	T	13: 113,799,688 (GRCm39)	I114K	probably damaging	Het
Irag1	G	A	7: 110,528,719 (GRCm39)	P43S	probably damaging	Het
Itgb7	T	G	15: 102,124,595 (GRCm39)	*807C	probably null	Het
Kbtbd2	A	G	6: 56,756,239 (GRCm39)	V499A	probably damaging	Het
Lemd3	A	T	10: 120,769,565 (GRCm39)	I589N	probably damaging	Het
Mettl13	T	C	1: 162,375,692 (GRCm39)	Y45C	probably damaging	Het
Mllt6	C	T	11: 97,565,273 (GRCm39)	T571I	probably damaging	Het
Nabp1	A	G	1: 51,513,699 (GRCm39)	I99T	probably damaging	Het
Ndufa4	A	G	6: 11,906,052 (GRCm39)	V33A	probably benign	Het
Nr1h5	A	G	3: 102,856,913 (GRCm39)	S200P	probably damaging	Het
Ntsr1	G	A	2: 180,184,476 (GRCm39)	R393H	probably benign	Het
Obi1	C	T	14: 104,740,850 (GRCm39)	E191K	probably damaging	Het
Or14j4	T	C	17: 37,921,046 (GRCm39)	N199D	probably benign	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Pcdhb21	A	T	18: 37,647,736 (GRCm39)	K288N	probably benign	Het
Pla2g6	T	C	15: 79,190,510 (GRCm39)	N351D	probably benign	Het
Polg	T	C	7: 79,109,584 (GRCm39)	E411G	probably damaging	Het
Prdm11	A	G	2: 92,844,137 (GRCm39)	L31P	probably damaging	Het
Rab27b	G	A	18: 70,129,174 (GRCm39)	T40I	probably damaging	Het
Ruvbl2	T	C	7: 45,078,182 (GRCm39)	D97G	probably benign	Het
Saxo4	A	T	19: 10,454,453 (GRCm39)	Y328N	probably damaging	Het
Sema3a	T	C	5: 13,649,243 (GRCm39)	V664A	possibly damaging	Het
Sh2d3c	T	C	2: 32,644,542 (GRCm39)	S842P	probably damaging	Het
Spam1	A	G	6: 24,796,315 (GRCm39)	T89A	probably damaging	Het
Stab1	C	T	14: 30,863,038 (GRCm39)	G2187E	probably benign	Het
Tff2	C	A	17: 31,363,207 (GRCm39)	A6S	probably benign	Het
Trim80	T	C	11: 115,339,000 (GRCm39)	V610A	probably damaging	Het
Trp53bp1	A	G	2: 121,101,057 (GRCm39)	V47A	possibly damaging	Het
Ufl1	G	A	4: 25,267,796 (GRCm39)	Q292*	probably null	Het
Ulk1	A	T	5: 110,938,259 (GRCm39)	V571E	possibly damaging	Het
Usp24	A	T	4: 106,217,617 (GRCm39)	N447Y	probably damaging	Het
Vmn1r81	A	T	7: 11,993,774 (GRCm39)	I278K	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
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'- CTGAAGGGAGTGAACCTGTTTC -3'
(R):5'- TGACGCAGAAGTTGTATACATGTTC -3'

Sequencing Primer
(F):5'- CTGTGTGAGCTGTATTAACATGAC -3'
(R):5'- CAGAAGTTGTATACATGTTCGAGTG -3'

Posted On

2018-08-01