Incidental Mutation 'R8924:Cep152'
ID 679436
Institutional Source Beutler Lab
Gene Symbol Cep152
Ensembl Gene ENSMUSG00000068394
Gene Name centrosomal protein 152
Synonyms
MMRRC Submission 068769-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8924 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 125405008-125467033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125444778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 456 (M456T)
Ref Sequence ENSEMBL: ENSMUSP00000087208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089776]
AlphaFold A2AUM9
Predicted Effect possibly damaging
Transcript: ENSMUST00000089776
AA Change: M456T

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: M456T

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (88/90)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,838,003 (GRCm39) V1145A probably benign Het
Ank1 T C 8: 23,589,011 (GRCm39) M562T probably benign Het
Atn1 A T 6: 124,722,211 (GRCm39) S881T probably benign Het
B3galt1 C T 2: 67,949,059 (GRCm39) T258I probably benign Het
Bahcc1 C T 11: 120,167,591 (GRCm39) L1331F probably benign Het
Capn12 G A 7: 28,582,628 (GRCm39) V168M probably damaging Het
Card14 T C 11: 119,216,930 (GRCm39) V338A possibly damaging Het
Cd27 T C 6: 125,213,432 (GRCm39) probably benign Het
Cd37 A G 7: 44,888,109 (GRCm39) L37P probably damaging Het
Cd96 A G 16: 45,919,385 (GRCm39) L212P probably damaging Het
Celsr1 T C 15: 85,916,671 (GRCm39) E434G possibly damaging Het
Ces3b G A 8: 105,811,619 (GRCm39) R45H probably benign Het
Cfap54 T G 10: 92,837,685 (GRCm39) T1072P probably damaging Het
Chodl A T 16: 78,738,659 (GRCm39) M172L possibly damaging Het
Cilp2 A G 8: 70,339,108 (GRCm39) S47P probably damaging Het
Clasrp T C 7: 19,318,232 (GRCm39) I596V unknown Het
Clcn2 C T 16: 20,530,930 (GRCm39) V267I probably damaging Het
Cntln T A 4: 84,806,936 (GRCm39) D139E probably damaging Het
Cyp2j12 A C 4: 95,994,685 (GRCm39) N379K probably damaging Het
Defb21 T C 2: 152,416,704 (GRCm39) V60A possibly damaging Het
Dnajc16 G T 4: 141,494,018 (GRCm39) S543* probably null Het
Efcab12 G T 6: 115,800,664 (GRCm39) H120N probably benign Het
Efcab3 AACTCTA AA 11: 104,806,253 (GRCm39) probably null Het
Efl1 G A 7: 82,412,161 (GRCm39) G850D probably benign Het
Efna1 T C 3: 89,183,635 (GRCm39) M64V probably benign Het
Eif2ak3 T C 6: 70,870,003 (GRCm39) W897R probably damaging Het
Eif2ak4 T A 2: 118,258,513 (GRCm39) F621Y probably damaging Het
Erbin C A 13: 103,975,966 (GRCm39) E643* probably null Het
Esr1 G A 10: 4,807,176 (GRCm39) W364* probably null Het
Fam171a2 T C 11: 102,330,861 (GRCm39) E206G possibly damaging Het
Fam90a1a T C 8: 22,451,429 (GRCm39) F97L probably benign Het
Fap A T 2: 62,378,165 (GRCm39) F181I probably benign Het
Fem1b T C 9: 62,704,916 (GRCm39) N115D probably damaging Het
Gal3st2b G T 1: 93,868,653 (GRCm39) A295S probably benign Het
Galnt10 G A 11: 57,674,681 (GRCm39) probably benign Het
Gcfc2 T C 6: 81,909,879 (GRCm39) V224A probably damaging Het
Gh T C 11: 106,191,634 (GRCm39) E136G probably damaging Het
Gjd3 C T 11: 98,873,325 (GRCm39) C173Y probably damaging Het
Gm12695 T A 4: 96,651,046 (GRCm39) M136L probably benign Het
Gnas A G 2: 174,141,277 (GRCm39) E482G unknown Het
Gpa33 T C 1: 165,980,351 (GRCm39) L138P probably damaging Het
Hlf T C 11: 90,236,714 (GRCm39) D181G probably damaging Het
Irgm1 A G 11: 48,756,698 (GRCm39) L387S probably benign Het
Kctd1 T C 18: 15,102,745 (GRCm39) E812G possibly damaging Het
Klra2 T C 6: 131,205,214 (GRCm39) E209G probably benign Het
Klra3 C T 6: 130,312,732 (GRCm39) V11M probably benign Het
Klrh1 G T 6: 129,745,084 (GRCm39) H171N probably benign Het
Kmt2c T C 5: 25,503,885 (GRCm39) S3808G probably benign Het
Krtap24-1 A C 16: 88,408,888 (GRCm39) S79R probably benign Het
Limch1 T A 5: 67,190,475 (GRCm39) H759Q probably benign Het
Map3k4 A G 17: 12,490,433 (GRCm39) Y333H probably benign Het
Mmel1 A G 4: 154,974,091 (GRCm39) Y377C probably damaging Het
Ms4a14 A T 19: 11,281,113 (GRCm39) Y482N possibly damaging Het
Myo9b A G 8: 71,801,675 (GRCm39) S1277G probably benign Het
Nab1 T C 1: 52,529,667 (GRCm39) T77A possibly damaging Het
Obsl1 T C 1: 75,482,841 (GRCm39) S10G probably benign Het
Odc1 A G 12: 17,598,329 (GRCm39) T157A possibly damaging Het
Or2a5 T G 6: 42,873,964 (GRCm39) L193R probably damaging Het
Or8b52 T C 9: 38,576,780 (GRCm39) D120G probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Plpp1 T A 13: 112,943,057 (GRCm39) probably benign Het
Prdm13 G A 4: 21,679,125 (GRCm39) A455V possibly damaging Het
Ptpn13 A T 5: 103,739,101 (GRCm39) Y2289F probably damaging Het
Ptpn18 G T 1: 34,498,966 (GRCm39) R21L probably benign Het
Ptprd A G 4: 75,916,736 (GRCm39) probably null Het
Rcn3 G T 7: 44,733,095 (GRCm39) D258E probably damaging Het
Ro60 C T 1: 143,641,170 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
Sacs T A 14: 61,429,895 (GRCm39) H651Q probably benign Het
Sacs T C 14: 61,448,702 (GRCm39) S3583P probably damaging Het
Scel A G 14: 103,829,807 (GRCm39) N463S possibly damaging Het
Serpinb2 A T 1: 107,443,284 (GRCm39) I28F possibly damaging Het
Sin3b A G 8: 73,473,131 (GRCm39) K484E probably benign Het
Snrnp48 T A 13: 38,400,397 (GRCm39) V168D probably damaging Het
Snx18 T G 13: 113,754,931 (GRCm39) M1L probably benign Het
Spata31h1 T C 10: 82,131,295 (GRCm39) N572D probably benign Het
Srcap T A 7: 127,158,204 (GRCm39) N2693K unknown Het
Stim1 A G 7: 102,078,014 (GRCm39) D172G Het
Stip1 A T 19: 7,002,687 (GRCm39) L414H probably damaging Het
Sun1 A G 5: 139,209,390 (GRCm39) H40R probably damaging Het
Sva T A 6: 42,019,182 (GRCm39) D117E possibly damaging Het
Syne2 A G 12: 75,943,444 (GRCm39) D321G probably damaging Het
Trim45 A G 3: 100,835,394 (GRCm39) D459G probably damaging Het
Ttc6 G A 12: 57,697,790 (GRCm39) W43* probably null Het
Ugt2b35 A G 5: 87,152,780 (GRCm39) T317A possibly damaging Het
Usp32 C T 11: 84,916,370 (GRCm39) R858Q probably damaging Het
Vmn2r53 G T 7: 12,334,752 (GRCm39) Q303K probably benign Het
Yeats2 T C 16: 19,969,312 (GRCm39) probably null Het
Zfp804a A G 2: 82,088,747 (GRCm39) N859D probably benign Het
Zscan10 A T 17: 23,824,580 (GRCm39) Q12L possibly 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
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
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'- TGCAGCTCATCAGAACTGGG -3'
(R):5'- ATGGCTCCCTATCCGTATGG -3'

Sequencing Primer
(F):5'- TGGGCTAGAACACCTAGGTCTAAC -3'
(R):5'- CCGTATGGCCCTGAATCATAATAGTG -3'
Posted On 2021-08-02