Incidental Mutation 'R6690:Cep152'
ID 530374
Institutional Source Beutler Lab
Gene Symbol Cep152
Ensembl Gene ENSMUSG00000068394
Gene Name centrosomal protein 152
Synonyms
MMRRC Submission 044808-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6690 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 125405008-125467033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125406290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1414 (L1414Q)
Ref Sequence ENSEMBL: ENSMUSP00000087208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089776]
AlphaFold A2AUM9
Predicted Effect probably damaging
Transcript: ENSMUST00000089776
AA Change: L1414Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: L1414Q

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 0.1233 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,115,062 (GRCm39) G628D probably damaging Het
Ahnak G T 19: 8,986,945 (GRCm39) G2743V probably benign Het
Akr1c14 A T 13: 4,113,713 (GRCm39) T82S possibly damaging Het
Ccdc7b A G 8: 129,904,700 (GRCm39) T113A probably benign Het
Chd8 T C 14: 52,464,694 (GRCm39) E658G possibly damaging Het
Clca3a1 G C 3: 144,719,644 (GRCm39) A442G probably damaging Het
Coro6 A G 11: 77,356,606 (GRCm39) T105A probably benign Het
Cux1 A G 5: 136,368,971 (GRCm39) I232T probably damaging Het
Dmrt1 A G 19: 25,523,449 (GRCm39) T267A probably benign Het
Fam149a G T 8: 45,802,071 (GRCm39) A387E probably damaging Het
Fat4 G A 3: 39,037,688 (GRCm39) G3780D probably damaging Het
Igf2r A T 17: 12,910,824 (GRCm39) L1998* probably null Het
Iqcf6 C T 9: 106,504,501 (GRCm39) T55I possibly damaging Het
Mterf3 G A 13: 67,065,110 (GRCm39) L264F probably damaging Het
Or10k2 G T 8: 84,267,904 (GRCm39) V44L probably benign Het
Or8g32 A G 9: 39,305,845 (GRCm39) I253V probably benign Het
Pcdhgb7 A T 18: 37,886,050 (GRCm39) I407F probably benign Het
Pip4k2b T C 11: 97,620,393 (GRCm39) D114G probably damaging Het
Plbd1 G T 6: 136,612,598 (GRCm39) N198K probably damaging Het
Prkcb T C 7: 121,888,737 (GRCm39) I57T probably damaging Het
Ralgapa1 C T 12: 55,769,558 (GRCm39) probably null Het
Slc26a8 A G 17: 28,863,629 (GRCm39) I710T possibly damaging Het
Smc2 A T 4: 52,449,375 (GRCm39) I179L probably benign Het
Tmub2 C T 11: 102,178,345 (GRCm39) H83Y probably damaging Het
Trip11 C A 12: 101,851,710 (GRCm39) D785Y possibly damaging Het
Vill A G 9: 118,890,975 (GRCm39) T194A probably benign Het
Vmn2r59 T C 7: 41,695,890 (GRCm39) D174G 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
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
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'- TGGAAGCCATGGGTCTCATC -3'
(R):5'- TGTGACTCCAGCTTGTGTCAAG -3'

Sequencing Primer
(F):5'- GAAGCCATGGGTCTCATCTCTCTG -3'
(R):5'- AGATGACATAAACTAACATTTCAGCC -3'
Posted On 2018-08-01