Mutagenetix > Incidental Mutation

Incidental Mutation 'R4212:Cep152'

319226

Institutional Source

Beutler Lab

Gene Symbol

Cep152

Ensembl Gene

ENSMUSG00000068394

Gene Name

centrosomal protein 152

Synonyms

MMRRC Submission

041641-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125405008-125467033 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125461921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 87 (M87T)

Ref Sequence

ENSEMBL: ENSMUSP00000087208 (fasta)

Gene Model

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

AlphaFold

A2AUM9

Predicted Effect

probably benign
Transcript: ENSMUST00000089776
AA Change: M87T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: M87T

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	T	15: 60,791,585 (GRCm39)	L284M	possibly damaging	Het
Adamts15	A	G	9: 30,817,470 (GRCm39)	V536A	probably damaging	Het
Arsi	A	T	18: 61,049,773 (GRCm39)	I219F	probably damaging	Het
Atg7	G	A	6: 114,680,386 (GRCm39)	G447E	probably benign	Het
Bdp1	T	A	13: 100,196,093 (GRCm39)	H1223L	probably benign	Het
Chrm3	T	C	13: 9,927,791 (GRCm39)	D415G	probably benign	Het
Chrnb2	A	T	3: 89,668,851 (GRCm39)	C155S	probably damaging	Het
Col6a4	T	A	9: 105,952,569 (GRCm39)	Q443L	probably benign	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
D5Ertd579e	A	T	5: 36,771,823 (GRCm39)	D857E	probably damaging	Het
Efcab6	T	C	15: 83,777,064 (GRCm39)	D1124G	probably damaging	Het
F830045P16Rik	C	T	2: 129,302,273 (GRCm39)	A440T	probably benign	Het
Gc	T	C	5: 89,583,434 (GRCm39)	K370E	probably benign	Het
Gm11559	A	G	11: 99,755,726 (GRCm39)	Q125R	unknown	Het
Gm3985	A	T	8: 33,432,484 (GRCm39)		noncoding transcript	Het
Gucy2e	A	G	11: 69,118,949 (GRCm39)	F681S	probably damaging	Het
Hip1r	A	G	5: 124,137,953 (GRCm39)	I760V	probably benign	Het
Islr2	C	T	9: 58,106,603 (GRCm39)	G219D	probably damaging	Het
Itgae	A	G	11: 73,010,178 (GRCm39)	H556R	probably benign	Het
Jag1	T	C	2: 136,926,990 (GRCm39)	D923G	probably benign	Het
Kmt2c	A	G	5: 25,552,357 (GRCm39)		probably null	Het
Kmt2d	A	G	15: 98,742,884 (GRCm39)		probably benign	Het
Krtap17-1	A	G	11: 99,884,740 (GRCm39)	L9P	unknown	Het
Lats2	C	T	14: 57,933,712 (GRCm39)	D802N	possibly damaging	Het
Lrfn5	A	T	12: 61,890,606 (GRCm39)	T632S	probably benign	Het
Myo9a	C	T	9: 59,813,349 (GRCm39)	R2183*	probably null	Het
Myorg	T	C	4: 41,498,307 (GRCm39)	E441G	probably benign	Het
Naip1	T	C	13: 100,563,383 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,360,624 (GRCm39)	V1434E	probably damaging	Het
Nlrc4	T	C	17: 74,754,110 (GRCm39)	Y91C	possibly damaging	Het
Or4l1	A	T	14: 50,166,346 (GRCm39)	Y218*	probably null	Het
Or5b102	T	G	19: 13,041,123 (GRCm39)	M116R	probably damaging	Het
Or5k1	T	A	16: 58,617,732 (GRCm39)	H159L	possibly damaging	Het
Pard3	T	A	8: 128,336,939 (GRCm39)	I1143K	probably benign	Het
Pcdha7	A	G	18: 37,108,027 (GRCm39)	T351A	probably benign	Het
Phf2	C	A	13: 48,974,089 (GRCm39)	G318V	unknown	Het
Plch1	T	A	3: 63,778,180 (GRCm39)		probably benign	Het
Polr1c	A	G	17: 46,557,046 (GRCm39)	I79T	probably damaging	Het
Ppp2r5e	A	G	12: 75,516,325 (GRCm39)	I244T	probably damaging	Het
Psmd12	T	C	11: 107,376,585 (GRCm39)	C74R	probably damaging	Het
Qng1	C	T	13: 58,529,805 (GRCm39)	G269E	probably damaging	Het
Ralgapa1	A	G	12: 55,786,115 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,333,194 (GRCm39)	G781D	probably damaging	Het
Scn8a	T	C	15: 100,854,954 (GRCm39)	V147A	possibly damaging	Het
Sema3b	C	T	9: 107,480,597 (GRCm39)	V117M	probably damaging	Het
Sfxn5	A	T	6: 85,309,288 (GRCm39)	L139*	probably null	Het
Slc2a12	A	T	10: 22,577,993 (GRCm39)	K596N	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Spata31e4	C	T	13: 50,854,388 (GRCm39)	T82I	possibly damaging	Het
Tlr4	T	A	4: 66,758,563 (GRCm39)	I452N	probably damaging	Het
Tshz3	A	G	7: 36,469,544 (GRCm39)	D511G	probably damaging	Het
Usp44	A	G	10: 93,682,632 (GRCm39)	K314E	possibly 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
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'- GTACCCAAGATGCTGGTCTTC -3'
(R):5'- TTGAGTCTCTGCTGACAATAACG -3'

Sequencing Primer
(F):5'- CCAAGATGCTGGTCTTCGGTTTTAC -3'
(R):5'- GAGTCTCTGCTGACAATAACGTAAAC -3'

Posted On

2015-06-10