Incidental Mutation 'R4777:Cep152'
ID 367997
Institutional Source Beutler Lab
Gene Symbol Cep152
Ensembl Gene ENSMUSG00000068394
Gene Name centrosomal protein 152
Synonyms
MMRRC Submission 041992-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4777 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 125405008-125467033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 125406015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1506 (V1506I)
Ref Sequence ENSEMBL: ENSMUSP00000087208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089776]
AlphaFold A2AUM9
Predicted Effect probably benign
Transcript: ENSMUST00000089776
AA Change: V1506I

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: V1506I

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A C 3: 137,771,503 (GRCm39) S231R probably benign Het
5730455P16Rik A T 11: 80,265,041 (GRCm39) I137N probably damaging Het
Abhd10 G A 16: 45,557,279 (GRCm39) Q176* probably null Het
Acer3 T C 7: 97,910,804 (GRCm39) Y86C probably damaging Het
Ankrd36 T C 11: 5,557,120 (GRCm39) V356A probably benign Het
Atp1a1 A G 3: 101,502,312 (GRCm39) probably null Het
Bmp8b G A 4: 123,015,793 (GRCm39) R260Q possibly damaging Het
C2cd3 T A 7: 100,065,539 (GRCm39) V775D possibly damaging Het
Cacna1b T A 2: 24,622,337 (GRCm39) I216F probably damaging Het
Capn5 T A 7: 97,780,925 (GRCm39) N284I probably damaging Het
Cbr1 C A 16: 93,406,942 (GRCm39) D219E probably benign Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Cdh20 G A 1: 109,922,055 (GRCm39) W49* probably null Het
Cfap97 C T 8: 46,648,334 (GRCm39) Q537* probably null Het
Cpsf2 T A 12: 101,963,091 (GRCm39) V385E probably damaging Het
Dse A G 10: 34,029,584 (GRCm39) V502A possibly damaging Het
Fam171a1 T A 2: 3,224,550 (GRCm39) F300L probably benign Het
Fnip1 T G 11: 54,391,382 (GRCm39) N438K probably damaging Het
Fstl5 C T 3: 76,500,807 (GRCm39) T412M probably damaging Het
Gm11938 T A 11: 99,494,059 (GRCm39) Q12L unknown Het
Hcls1 G T 16: 36,775,678 (GRCm39) A171S probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hydin G T 8: 111,137,096 (GRCm39) C633F probably damaging Het
Ica1 A T 6: 8,644,145 (GRCm39) D381E probably benign Het
Ift74 A G 4: 94,541,234 (GRCm39) K220E probably benign Het
Igfn1 A T 1: 135,882,600 (GRCm39) D2748E probably benign Het
Il16 A C 7: 83,300,104 (GRCm39) D396E probably benign Het
Impdh1 G T 6: 29,205,201 (GRCm39) A200E possibly damaging Het
Itga4 C T 2: 79,144,054 (GRCm39) T647I possibly damaging Het
Jpt1 A T 11: 115,391,497 (GRCm39) M104K probably benign Het
Krt73 C A 15: 101,702,436 (GRCm39) A476S probably benign Het
Lama3 T C 18: 12,546,828 (GRCm39) Y363H probably damaging Het
Lgr4 C T 2: 109,827,027 (GRCm39) P177L probably damaging Het
Lrp2 T C 2: 69,312,608 (GRCm39) D2560G probably damaging Het
Ly6m T C 15: 74,752,532 (GRCm39) N48S probably benign Het
Macf1 A T 4: 123,270,295 (GRCm39) F6617I probably damaging Het
Mcf2l T A 8: 13,068,051 (GRCm39) probably null Het
Mcub T A 3: 129,763,600 (GRCm39) Q42L probably damaging Het
Mfsd9 C T 1: 40,820,700 (GRCm39) V150I possibly damaging Het
Myo15b T C 11: 115,770,478 (GRCm39) V96A probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10aa3 T G 1: 173,878,244 (GRCm39) Y102D probably damaging Het
Or10g6 T C 9: 39,933,994 (GRCm39) F102L possibly damaging Het
Or1r1 A G 11: 73,875,221 (GRCm39) V71A probably benign Het
Pgap6 T C 17: 26,340,515 (GRCm39) V633A probably damaging Het
Pinlyp T A 7: 24,241,568 (GRCm39) I153F possibly damaging Het
Plk2 A C 13: 110,534,307 (GRCm39) M296L probably benign Het
Plvap T C 8: 71,960,630 (GRCm39) Y262C probably benign Het
Ppfia3 C A 7: 44,990,581 (GRCm39) G1066V probably damaging Het
Prokr1 A G 6: 87,565,842 (GRCm39) M1T probably null Het
Ptgs2 G T 1: 149,981,138 (GRCm39) A474S probably benign Het
Pth2r A G 1: 65,427,676 (GRCm39) T450A possibly damaging Het
Ranbp6 A T 19: 29,789,037 (GRCm39) F438L probably damaging Het
Ripor1 A T 8: 106,341,622 (GRCm39) Q102L probably damaging Het
Rprd2 C T 3: 95,694,686 (GRCm39) V116I probably benign Het
Sacs T C 14: 61,449,258 (GRCm39) V3768A probably damaging Het
Scn8a T C 15: 100,913,832 (GRCm39) Y1075H probably damaging Het
Senp3 C T 11: 69,569,063 (GRCm39) G366D probably damaging Het
Smim1 T C 4: 154,108,107 (GRCm39) probably benign Het
Sptan1 A G 2: 29,886,447 (GRCm39) I817V probably damaging Het
Stag3 A T 5: 138,307,461 (GRCm39) probably benign Het
Stk17b A T 1: 53,810,867 (GRCm39) H79Q probably damaging Het
Svil A G 18: 5,088,813 (GRCm39) K1296E probably damaging Het
Tmem117 T A 15: 94,992,331 (GRCm39) Y330* probably null Het
Tnxb G T 17: 34,890,917 (GRCm39) R420L probably damaging Het
Trim9 C A 12: 70,393,845 (GRCm39) C33F probably damaging Het
Usp29 A C 7: 6,965,747 (GRCm39) Y530S probably benign Het
Vps26b T C 9: 26,921,752 (GRCm39) T258A possibly damaging Het
Vrtn C A 12: 84,695,600 (GRCm39) H117N probably damaging Het
Wdr33 C T 18: 32,014,301 (GRCm39) H388Y probably damaging Het
Zfp451 A T 1: 33,821,186 (GRCm39) V222D possibly damaging Het
Zfp953 A G 13: 67,491,193 (GRCm39) I253T probably benign Het
Zfy2 A G Y: 2,116,194 (GRCm39) V282A probably benign Het
Zscan29 A T 2: 120,999,805 (GRCm39) V132D probably damaging Het
Zswim4 G T 8: 84,963,586 (GRCm39) D16E probably benign 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
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'- ACTTCTCAGGGTTGTGTGCC -3'
(R):5'- GTGGTGTGAATCACAATATTCCAC -3'

Sequencing Primer
(F):5'- CCTGGACTCTGAGATGCATCTAG -3'
(R):5'- TTACGTTGAAAGCAAACCAAACAGTG -3'
Posted On 2015-12-29