Incidental Mutation 'R1664:Cep152'
ID 186988
Institutional Source Beutler Lab
Gene Symbol Cep152
Ensembl Gene ENSMUSG00000068394
Gene Name centrosomal protein 152
Synonyms
MMRRC Submission 039700-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1664 (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 125408174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 1390 (A1390S)
Ref Sequence ENSEMBL: ENSMUSP00000087208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089776]
AlphaFold A2AUM9
Predicted Effect probably benign
Transcript: ENSMUST00000089776
AA Change: A1390S

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: A1390S

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T A 14: 35,533,772 (GRCm39) T45S probably benign Het
Ackr1 A G 1: 173,160,433 (GRCm39) F29L probably benign Het
Adgrf2 T A 17: 43,025,305 (GRCm39) S60C possibly damaging Het
Alpk2 A G 18: 65,482,944 (GRCm39) C355R probably damaging Het
Ankmy1 A C 1: 92,812,913 (GRCm39) D465E probably benign Het
Ankrd27 T A 7: 35,306,551 (GRCm39) D310E probably damaging Het
Ap3d1 G A 10: 80,553,571 (GRCm39) Q559* probably null Het
C4b T C 17: 34,951,952 (GRCm39) T1298A probably damaging Het
Casr T A 16: 36,330,327 (GRCm39) K336* probably null Het
Ccdc116 A T 16: 16,960,492 (GRCm39) D108E probably benign Het
Ccdc168 T A 1: 44,098,387 (GRCm39) I904F possibly damaging Het
Ccr7 A T 11: 99,036,517 (GRCm39) I135N possibly damaging Het
Cd96 A G 16: 45,938,364 (GRCm39) Y34H possibly damaging Het
Cdan1 T A 2: 120,550,987 (GRCm39) D1135V probably damaging Het
Cecr2 C A 6: 120,738,987 (GRCm39) T1210K probably damaging Het
Chd9 T G 8: 91,749,418 (GRCm39) probably null Het
Cntnap5c G T 17: 58,600,985 (GRCm39) W776L probably benign Het
Col24a1 G A 3: 145,095,355 (GRCm39) probably null Het
Cpa2 G T 6: 30,554,314 (GRCm39) M311I probably damaging Het
Cpz A G 5: 35,664,087 (GRCm39) F483L probably damaging Het
Ddx19a A C 8: 111,716,130 (GRCm39) V90G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw7 A G 3: 84,876,478 (GRCm39) D213G possibly damaging Het
Fgd2 T C 17: 29,588,273 (GRCm39) F362L probably damaging Het
Fryl A G 5: 73,216,778 (GRCm39) Y2171H probably damaging Het
Gba2 T C 4: 43,578,080 (GRCm39) R90G probably benign Het
Gm10073 T C 8: 107,299,864 (GRCm39) E40G probably damaging Het
Grhl3 T C 4: 135,279,861 (GRCm39) I398V probably benign Het
Grip2 T A 6: 91,742,233 (GRCm39) H899L probably damaging Het
Grk2 T C 19: 4,337,268 (GRCm39) K644E possibly damaging Het
Iars1 A T 13: 49,865,251 (GRCm39) T576S probably damaging Het
Kif26b G A 1: 178,759,704 (GRCm39) V2084M probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrrc69 G A 4: 14,775,079 (GRCm39) T63M probably damaging Het
Lrrn4 A T 2: 132,711,886 (GRCm39) C646S probably damaging Het
Mtf2 C T 5: 108,252,342 (GRCm39) T457M probably damaging Het
Ncln A T 10: 81,323,555 (GRCm39) C531S probably benign Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or14j8 T C 17: 38,263,784 (GRCm39) I44V probably benign Het
Or5v1 C T 17: 37,810,316 (GRCm39) T258M possibly damaging Het
Or8c11 A T 9: 38,289,548 (GRCm39) M124L possibly damaging Het
Otogl A G 10: 107,642,437 (GRCm39) V1331A probably benign Het
Palb2 A G 7: 121,723,615 (GRCm39) probably benign Het
Pcdh20 T C 14: 88,705,758 (GRCm39) E514G possibly damaging Het
Pclaf A G 9: 65,797,730 (GRCm39) N7S probably benign Het
Pdrg1 C T 2: 152,857,248 (GRCm39) probably benign Het
Phf8-ps T A 17: 33,285,492 (GRCm39) I437F probably damaging Het
Pik3r6 T A 11: 68,426,932 (GRCm39) D464E probably benign Het
Pkp3 A G 7: 140,667,560 (GRCm39) N454D probably damaging Het
Plekha7 C A 7: 115,734,269 (GRCm39) probably null Het
Ppip5k1 A G 2: 121,167,663 (GRCm39) V784A probably benign Het
Ppp1r36 T A 12: 76,483,028 (GRCm39) D205E possibly damaging Het
Prss35 A T 9: 86,637,700 (GRCm39) T157S probably benign Het
Ptprn2 T C 12: 117,125,329 (GRCm39) L621P probably damaging Het
Rasgrp3 A G 17: 75,831,172 (GRCm39) K524R probably damaging Het
Rasgrp4 T A 7: 28,839,688 (GRCm39) H133Q probably benign Het
Reln A T 5: 22,134,084 (GRCm39) Y2615N probably damaging Het
Rpf1 T A 3: 146,217,903 (GRCm39) T204S probably benign Het
Scgb2b3 T A 7: 31,058,464 (GRCm39) *113L probably null Het
Scn5a A C 9: 119,350,243 (GRCm39) L877R possibly damaging Het
Sh3pxd2a A T 19: 47,256,821 (GRCm39) D632E probably benign Het
Slc39a10 T C 1: 46,865,269 (GRCm39) H522R probably damaging Het
Spink2 A T 5: 77,354,855 (GRCm39) C19S probably damaging Het
Spsb4 A G 9: 96,878,266 (GRCm39) L19P possibly damaging Het
St7l T C 3: 104,778,214 (GRCm39) V117A probably damaging Het
Stac2 C T 11: 97,933,420 (GRCm39) S174N probably damaging Het
Sult4a1 A G 15: 83,970,818 (GRCm39) Y196H probably benign Het
Tex2 C T 11: 106,458,608 (GRCm39) probably benign Het
Tprg1l A T 4: 154,243,862 (GRCm39) V98D possibly damaging Het
Ttn G A 2: 76,548,369 (GRCm39) H31978Y probably damaging Het
Ttn T C 2: 76,658,853 (GRCm39) probably benign Het
Tyk2 C A 9: 21,031,649 (GRCm39) R447L probably damaging Het
Ucn3 T C 13: 3,991,634 (GRCm39) Y6C possibly damaging Het
Urb1 A T 16: 90,584,970 (GRCm39) probably null Het
Vmn2r94 G C 17: 18,464,406 (GRCm39) A628G probably damaging Het
Wdr95 C A 5: 149,518,752 (GRCm39) T389K probably damaging Het
Wrn A T 8: 33,770,794 (GRCm39) probably null Het
Xab2 T A 8: 3,669,068 (GRCm39) probably null Het
Zfp458 A T 13: 67,406,144 (GRCm39) N95K possibly damaging Het
Zfp672 T C 11: 58,208,138 (GRCm39) H61R probably damaging Het
Zfp942 C T 17: 22,147,420 (GRCm39) G403E 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
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
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'- CTGTCGCTCTGACCTGGATAGTTTG -3'
(R):5'- ACTGGTCTGAAGTTTTCCCTGCTG -3'

Sequencing Primer
(F):5'- CTGACCTGGATAGTTTGGAGCC -3'
(R):5'- ACCTGAGTTGTCTTCAGCAG -3'
Posted On 2014-05-09