Incidental Mutation 'R6155:Cep152'
ID 489500
Institutional Source Beutler Lab
Gene Symbol Cep152
Ensembl Gene ENSMUSG00000068394
Gene Name centrosomal protein 152
Synonyms
MMRRC Submission 044302-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 125405008-125467033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125423620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 927 (H927R)
Ref Sequence ENSEMBL: ENSMUSP00000087208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089776]
AlphaFold A2AUM9
Predicted Effect probably benign
Transcript: ENSMUST00000089776
AA Change: H927R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: H927R

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: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.1%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 105,111,510 (GRCm39) Y319C probably benign Het
Actn4 A C 7: 28,595,566 (GRCm39) I763S probably damaging Het
Actr8 G A 14: 29,700,546 (GRCm39) probably null Het
Adrb1 T C 19: 56,711,336 (GRCm39) L178P probably damaging Het
Afap1 A G 5: 36,092,953 (GRCm39) Y19C unknown Het
Ankrd36 A G 11: 5,637,442 (GRCm39) E1337G probably benign Het
Arl4a A C 12: 40,086,519 (GRCm39) V76G probably damaging Het
Bmp1 A T 14: 70,745,447 (GRCm39) I246K probably damaging Het
Camk4 A T 18: 33,072,500 (GRCm39) T18S unknown Het
Clca3a2 A G 3: 144,525,118 (GRCm39) I38T probably damaging Het
Clec2g A C 6: 128,957,236 (GRCm39) T54P probably damaging Het
Cox20 A G 1: 178,149,362 (GRCm39) E31G possibly damaging Het
Crispld1 T A 1: 17,823,241 (GRCm39) H407Q probably benign Het
Csmd1 T C 8: 15,953,231 (GRCm39) I3417V probably benign Het
Dhtkd1 A C 2: 5,915,170 (GRCm39) H700Q probably null Het
Dnah10 G A 5: 124,847,663 (GRCm39) V1516M probably damaging Het
Dnah10 A G 5: 124,862,239 (GRCm39) T2165A probably damaging Het
Dock2 C G 11: 34,244,123 (GRCm39) M1072I probably benign Het
F11 T A 8: 45,705,119 (GRCm39) T141S probably damaging Het
Gabra6 T A 11: 42,207,350 (GRCm39) I245F probably damaging Het
H2-T5 G A 17: 36,478,399 (GRCm39) A211V possibly damaging Het
Herc1 T A 9: 66,340,705 (GRCm39) C1685S possibly damaging Het
Iftap A T 2: 101,406,355 (GRCm39) probably null Het
Il20 G T 1: 130,838,477 (GRCm39) D73E probably damaging Het
Ireb2 C A 9: 54,793,811 (GRCm39) P247Q probably damaging Het
Kcng3 T C 17: 83,895,807 (GRCm39) I220V probably benign Het
Lce1j T G 3: 92,696,379 (GRCm39) Q133P unknown Het
Lgals9 C T 11: 78,854,331 (GRCm39) A287T probably benign Het
Lrrc52 A G 1: 167,294,296 (GRCm39) probably benign Het
Map3k5 A T 10: 19,994,187 (GRCm39) H1027L probably benign Het
Morc3 A G 16: 93,659,313 (GRCm39) D407G possibly damaging Het
Myom1 T C 17: 71,415,690 (GRCm39) probably null Het
Ncapg2 T C 12: 116,401,631 (GRCm39) F673S possibly damaging Het
Ncoa6 T C 2: 155,249,368 (GRCm39) D1312G probably damaging Het
Nkx1-1 A T 5: 33,588,395 (GRCm39) F298I probably damaging Het
Npas2 G A 1: 39,326,557 (GRCm39) R14Q probably damaging Het
Npas4 C T 19: 5,036,898 (GRCm39) C422Y probably damaging Het
Or11h4 T C 14: 50,974,076 (GRCm39) D181G probably benign Het
Or2y11 T A 11: 49,443,411 (GRCm39) I279N possibly damaging Het
Or4c123 A G 2: 89,126,765 (GRCm39) L283S probably damaging Het
Or5p4 T C 7: 107,680,493 (GRCm39) V164A probably benign Het
Pcdhga4 T C 18: 37,819,546 (GRCm39) I365T probably damaging Het
Pear1 T A 3: 87,666,875 (GRCm39) T37S probably damaging Het
Pkn2 A T 3: 142,559,454 (GRCm39) F24I probably benign Het
Plcb3 G A 19: 6,943,533 (GRCm39) A122V probably damaging Het
Pnliprp1 T C 19: 58,718,565 (GRCm39) probably null Het
Pramel28 T A 4: 143,691,712 (GRCm39) H337L probably benign Het
Psmb3 T A 11: 97,603,278 (GRCm39) F164I probably damaging Het
Ptch2 T A 4: 116,954,105 (GRCm39) F45Y probably damaging Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Pusl1 A G 4: 155,975,005 (GRCm39) S199P probably damaging Het
Rasgrp2 C A 19: 6,452,531 (GRCm39) L35I probably damaging Het
Rictor T C 15: 6,823,458 (GRCm39) L1545P probably benign Het
Rtn4r A T 16: 17,969,258 (GRCm39) M229L probably benign Het
Ruvbl1 A T 6: 88,456,107 (GRCm39) probably null Het
Slc35b3 A T 13: 39,128,572 (GRCm39) S30T probably damaging Het
Sorcs3 T C 19: 48,387,136 (GRCm39) V207A possibly damaging Het
Sox13 A G 1: 133,321,005 (GRCm39) S2P probably damaging Het
Sptbn1 A C 11: 30,087,403 (GRCm39) L999R probably damaging Het
Taf4 A G 2: 179,555,317 (GRCm39) V1015A probably damaging Het
Top3b T C 16: 16,709,373 (GRCm39) L687P probably damaging Het
Tpp2 T A 1: 43,995,649 (GRCm39) V268E probably damaging Het
Ttc6 T C 12: 57,784,402 (GRCm39) Y1824H possibly damaging Het
Txk A G 5: 72,858,069 (GRCm39) Y360H probably damaging Het
Vmn2r57 T C 7: 41,078,114 (GRCm39) I115V probably benign Het
Vmn2r98 T C 17: 19,286,143 (GRCm39) S214P possibly damaging Het
Zbtb48 T C 4: 152,106,495 (GRCm39) probably null Het
Zzz3 A G 3: 152,133,319 (GRCm39) I126V 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
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'- TAAGTCAACCCCAGGAGCTG -3'
(R):5'- AAAATTGACCCTTGCTGTGCC -3'

Sequencing Primer
(F):5'- AGCTGGTGCACGTCTCAGAG -3'
(R):5'- CTCTCTCCTGTCATCTCCTGTAGG -3'
Posted On 2017-10-10