Incidental Mutation 'R4713:Cep152'
ID 353345
Institutional Source Beutler Lab
Gene Symbol Cep152
Ensembl Gene ENSMUSG00000068394
Gene Name centrosomal protein 152
Synonyms
MMRRC Submission 041601-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4713 (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 A at 125429868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 685 (A685S)
Ref Sequence ENSEMBL: ENSMUSP00000087208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089776]
AlphaFold A2AUM9
Predicted Effect possibly damaging
Transcript: ENSMUST00000089776
AA Change: A685S

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: A685S

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: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,586,613 (GRCm39) T360K probably damaging Het
AW551984 T C 9: 39,508,449 (GRCm39) K356E probably benign Het
Bpifb2 T A 2: 153,723,113 (GRCm39) V123E probably damaging Het
Cacna1a T G 8: 85,276,143 (GRCm39) F532V probably damaging Het
Cct8 C A 16: 87,284,576 (GRCm39) E204* probably null Het
Cd163 T A 6: 124,294,577 (GRCm39) probably null Het
Chdh A G 14: 29,758,798 (GRCm39) D581G probably benign Het
Cnpy3 A C 17: 47,058,391 (GRCm39) Y77* probably null Het
Col5a3 T C 9: 20,704,870 (GRCm39) E762G unknown Het
Creb3 A G 4: 43,563,247 (GRCm39) T115A probably benign Het
Dlat G T 9: 50,555,781 (GRCm39) A412E probably benign Het
Dnah2 T C 11: 69,367,514 (GRCm39) N1789S probably damaging Het
Dzank1 C T 2: 144,333,724 (GRCm39) E370K probably benign Het
Eif3m A T 2: 104,837,184 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,920 (GRCm39) M562L probably benign Het
Gprc6a T A 10: 51,507,553 (GRCm39) probably benign Het
Gsr T G 8: 34,170,347 (GRCm39) probably null Het
Gstcd A G 3: 132,688,860 (GRCm39) V630A probably damaging Het
Hip1r T C 5: 124,128,043 (GRCm39) I116T probably benign Het
Hivep3 A G 4: 119,989,000 (GRCm39) E1817G probably damaging Het
Inpp5f A C 7: 128,265,449 (GRCm39) T135P probably damaging Het
Ism2 A G 12: 87,331,801 (GRCm39) silent Het
Itga11 A G 9: 62,673,070 (GRCm39) D784G probably damaging Het
Itpr2 A G 6: 146,274,671 (GRCm39) F837S probably damaging Het
Itpr2 T C 6: 146,298,456 (GRCm39) E10G probably damaging Het
Knl1 A T 2: 118,899,618 (GRCm39) K440* probably null Het
Lonp2 T C 8: 87,439,943 (GRCm39) S648P probably damaging Het
Lrba T C 3: 86,267,175 (GRCm39) S1622P probably benign Het
Lrp2 G T 2: 69,318,310 (GRCm39) A2047D probably damaging Het
Mcm3 G A 1: 20,873,801 (GRCm39) T773I probably benign Het
Mki67 A G 7: 135,297,198 (GRCm39) V2612A probably benign Het
Mnx1 C A 5: 29,683,129 (GRCm39) G49W probably damaging Het
Muc5b T A 7: 141,402,816 (GRCm39) Y673* probably null Het
Myo15a A G 11: 60,370,756 (GRCm39) H1172R probably benign Het
Myo1g T C 11: 6,466,080 (GRCm39) K363R probably null Het
Ncoa4 T A 14: 31,898,598 (GRCm39) C473S probably benign Het
Nefh T C 11: 4,889,656 (GRCm39) T988A unknown Het
Nwd2 T A 5: 63,961,803 (GRCm39) D462E probably benign Het
Or2av9 T C 11: 58,380,913 (GRCm39) T223A probably benign Het
Pira13 G T 7: 3,825,680 (GRCm39) Y396* probably null Het
Plec T C 15: 76,065,267 (GRCm39) E1466G unknown Het
Prl3d2 G T 13: 27,306,379 (GRCm39) M35I probably benign Het
Reln T A 5: 22,357,461 (GRCm39) I202F probably benign Het
Rhot1 T A 11: 80,116,428 (GRCm39) D78E probably benign Het
Rsph3b T C 17: 7,172,528 (GRCm39) probably null Het
Scn10a C T 9: 119,438,717 (GRCm39) M1717I probably damaging Het
Sema6a T A 18: 47,382,363 (GRCm39) H728L possibly damaging Het
Slc26a3 G T 12: 31,507,079 (GRCm39) A345S possibly damaging Het
Slc35d2 A G 13: 64,247,097 (GRCm39) V261A possibly damaging Het
Slc49a3 T C 5: 108,589,945 (GRCm39) T486A probably damaging Het
Ssmem1 A G 6: 30,519,513 (GRCm39) D66G probably damaging Het
Sult2a8 A T 7: 14,159,402 (GRCm39) N72K probably benign Het
Tbx10 T C 19: 4,046,921 (GRCm39) L108P probably damaging Het
Tex14 T C 11: 87,427,691 (GRCm39) S48P probably damaging Het
Tmie A G 9: 110,696,596 (GRCm39) L95P probably damaging Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Trpm3 T A 19: 22,866,799 (GRCm39) D543E possibly damaging Het
Vipr2 A C 12: 116,043,751 (GRCm39) R49S probably benign Het
Vps8 A T 16: 21,261,189 (GRCm39) S110C probably damaging Het
Zfp791 T A 8: 85,837,597 (GRCm39) N89I 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
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'- AAGGGATTGGGTGCTCATGC -3'
(R):5'- TGTGGGAAAGCAGACTGACC -3'

Sequencing Primer
(F):5'- CGCAAGCACACACACAC -3'
(R):5'- TTGTATTAATGAAAAGCCACGGAAG -3'
Posted On 2015-10-21