Incidental Mutation 'R5261:Cep152'
ID 401420
Institutional Source Beutler Lab
Gene Symbol Cep152
Ensembl Gene ENSMUSG00000068394
Gene Name centrosomal protein 152
Synonyms
MMRRC Submission 042830-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5261 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 125405008-125467033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125406125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1469 (H1469L)
Ref Sequence ENSEMBL: ENSMUSP00000087208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089776]
AlphaFold A2AUM9
Predicted Effect probably benign
Transcript: ENSMUST00000089776
AA Change: H1469L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: H1469L

DomainStartEndE-ValueType
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 0.0641 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 96% (64/67)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik C G 2: 152,282,777 (GRCm39) P211A probably damaging Het
Ambra1 G A 2: 91,715,951 (GRCm39) V761M probably damaging Het
Amfr T A 8: 94,702,798 (GRCm39) probably null Het
Asphd1 C A 7: 126,545,287 (GRCm39) A357S probably benign Het
Brd3 C A 2: 27,353,931 (GRCm39) Q60H probably damaging Het
Cd96 T A 16: 45,890,016 (GRCm39) M336L probably benign Het
Coro1a G T 7: 126,299,816 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,171,555 (GRCm39) L871Q probably benign Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Enpep T G 3: 129,099,075 (GRCm39) D467A probably damaging Het
Extl2 G A 3: 115,821,013 (GRCm39) A273T probably benign Het
Foxi3 T A 6: 70,937,500 (GRCm39) F218Y probably damaging Het
Golga2 A G 2: 32,194,166 (GRCm39) M521V probably benign Het
Gpr142 T A 11: 114,695,168 (GRCm39) N44K probably damaging Het
Gtf2ird2 A G 5: 134,245,061 (GRCm39) I440V probably benign Het
Gucy1b2 T A 14: 62,642,028 (GRCm39) K698I probably damaging Het
Hspa1b T C 17: 35,177,983 (GRCm39) M1V probably null Het
Ints9 T A 14: 65,245,521 (GRCm39) Y260N probably benign Het
Khdc3 T G 9: 73,010,768 (GRCm39) V182G possibly damaging Het
Ky A G 9: 102,414,798 (GRCm39) probably null Het
Map2k1 T A 9: 64,098,843 (GRCm39) I263F probably damaging Het
Or13a18 A C 7: 140,190,576 (GRCm39) I166L probably benign Het
Or2t47 T C 11: 58,442,877 (GRCm39) S63G probably benign Het
Or5ak25 A G 2: 85,269,241 (GRCm39) V87A probably benign Het
Otogl T A 10: 107,613,453 (GRCm39) H2004L probably benign Het
Palmd T C 3: 116,717,009 (GRCm39) H496R probably benign Het
Papolb C G 5: 142,515,409 (GRCm39) R78P possibly damaging Het
Pcdh10 G A 3: 45,336,247 (GRCm39) G854R probably damaging Het
Pdcd11 A G 19: 47,101,976 (GRCm39) I1054V probably benign Het
Pik3ap1 A T 19: 41,364,545 (GRCm39) L58Q probably damaging Het
Ppp2ca A G 11: 51,989,937 (GRCm39) K21R probably benign Het
Prmt5 A C 14: 54,745,373 (GRCm39) I598S probably damaging Het
Pycr1 T A 11: 120,532,050 (GRCm39) I239F probably damaging Het
R3hdm2 C T 10: 127,334,285 (GRCm39) R896C probably damaging Het
Rev3l C T 10: 39,722,725 (GRCm39) P699S probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Sel1l A T 12: 91,791,658 (GRCm39) M351K possibly damaging Het
Sesn2 A G 4: 132,226,617 (GRCm39) L159P probably damaging Het
Slc35f4 T A 14: 49,540,946 (GRCm39) probably benign Het
Slc3a1 C A 17: 85,359,403 (GRCm39) N409K probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slco1c1 T C 6: 141,492,502 (GRCm39) F246S probably damaging Het
Socs2 T G 10: 95,228,681 (GRCm39) I190L unknown Het
Srsf1 T A 11: 87,938,684 (GRCm39) I7N possibly damaging Het
Stox1 T A 10: 62,503,620 (GRCm39) H145L probably damaging Het
Trap1 A T 16: 3,874,286 (GRCm39) I243N probably damaging Het
Trav7-3 T C 14: 53,681,207 (GRCm39) I83T probably benign Het
Trmt9b T C 8: 36,979,078 (GRCm39) I227T probably benign Het
Tuft1 A T 3: 94,546,712 (GRCm39) I42K possibly damaging Het
Umps A G 16: 33,787,344 (GRCm39) V3A probably benign Het
Vim A C 2: 13,579,643 (GRCm39) E134A probably null Het
Vmn1r28 C A 6: 58,242,524 (GRCm39) H122Q probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vsig10l T A 7: 43,120,274 (GRCm39) V760D probably damaging Het
Xrn1 A G 9: 95,927,596 (GRCm39) D1460G probably benign Het
Zfp282 A G 6: 47,874,824 (GRCm39) D343G probably damaging Het
Zfp35 A G 18: 24,136,778 (GRCm39) H374R probably damaging Het
Other mutations in Cep152
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GAAGAGTTCTTTTCGGCACCTCC -3'
(R):5'- CTGACGGGCACTGAAAGATC -3'

Sequencing Primer
(F):5'- TTTTCGGCACCTCCAAGGAAG -3'
(R):5'- TCAGAAAGGAGTGGTGTGAATCAC -3'
Posted On 2016-07-06