Incidental Mutation 'R7883:Cep152'
ID 608859
Institutional Source Beutler Lab
Gene Symbol Cep152
Ensembl Gene ENSMUSG00000068394
Gene Name centrosomal protein 152
Synonyms
MMRRC Submission 045935-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7883 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 125405008-125467033 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 125454978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 274 (A274V)
Ref Sequence ENSEMBL: ENSMUSP00000087208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089776]
AlphaFold A2AUM9
Predicted Effect possibly damaging
Transcript: ENSMUST00000089776
AA Change: A274V

PolyPhen 2 Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
AA Change: A274V

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (79/80)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik A T 4: 124,744,440 (GRCm39) W5R unknown Het
Abcb6 A T 1: 75,154,660 (GRCm39) S258R possibly damaging Het
Abcc10 A G 17: 46,618,027 (GRCm39) V1082A probably benign Het
Adrb2 A G 18: 62,312,447 (GRCm39) V126A probably damaging Het
Apol11a A G 15: 77,400,774 (GRCm39) E87G probably damaging Het
Arhgap45 T A 10: 79,863,423 (GRCm39) C755* probably null Het
Arl13b A T 16: 62,647,629 (GRCm39) I93K probably damaging Het
Aspm A G 1: 139,406,405 (GRCm39) K1764R possibly damaging Het
Atp8b5 A G 4: 43,342,471 (GRCm39) I381V probably damaging Het
Atxn2 A G 5: 121,940,180 (GRCm39) H985R possibly damaging Het
Bms1 G T 6: 118,365,735 (GRCm39) N1150K probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camta2 T C 11: 70,566,037 (GRCm39) D749G probably damaging Het
Cd300ld2 CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG 11: 114,903,257 (GRCm39) probably benign Het
Chd7 A G 4: 8,826,504 (GRCm39) N956S probably damaging Het
Cpt1c A T 7: 44,613,438 (GRCm39) probably null Het
Cttn C T 7: 143,999,555 (GRCm39) V338I probably benign Het
Dab2ip G A 2: 35,610,218 (GRCm39) G811D possibly damaging Het
Dmtf1 T C 5: 9,190,397 (GRCm39) T106A probably benign Het
Dync2h1 T C 9: 7,005,566 (GRCm39) E3768G possibly damaging Het
Exoc1 T A 5: 76,709,229 (GRCm39) D612E probably damaging Het
Fat2 T C 11: 55,144,190 (GRCm39) probably null Het
Fat4 G A 3: 39,035,968 (GRCm39) E3207K probably damaging Het
Fbxw18 A G 9: 109,517,474 (GRCm39) Y410H probably damaging Het
Fgfr3 T A 5: 33,891,235 (GRCm39) S518T probably damaging Het
Fzr1 G A 10: 81,204,469 (GRCm39) T377M probably damaging Het
Gcnt3 T A 9: 69,941,453 (GRCm39) I372F probably damaging Het
Gm10577 A T 4: 100,877,719 (GRCm39) Y59N unknown Het
Gm826 A G 2: 160,169,213 (GRCm39) L32P unknown Het
Grid1 T G 14: 35,172,259 (GRCm39) probably null Het
Hid1 T A 11: 115,245,435 (GRCm39) T457S probably damaging Het
Hsd3b5 A G 3: 98,529,456 (GRCm39) V58A probably benign Het
Iqcj A G 3: 67,954,641 (GRCm39) K49E probably damaging Het
Itpk1 A G 12: 102,572,434 (GRCm39) V93A probably benign Het
Kcnt2 A G 1: 140,450,888 (GRCm39) I722M probably damaging Het
Klhl36 T C 8: 120,601,217 (GRCm39) V412A possibly damaging Het
Krt18 G A 15: 101,936,885 (GRCm39) V58M possibly damaging Het
Lats2 T C 14: 57,934,657 (GRCm39) Y691C probably damaging Het
Lrp1b A T 2: 40,555,141 (GRCm39) I4095N Het
Map1a A G 2: 121,135,853 (GRCm39) E2223G probably damaging Het
Med25 A G 7: 44,541,232 (GRCm39) F94L possibly damaging Het
Mertk A G 2: 128,618,265 (GRCm39) I499V probably benign Het
Mrps12 A G 7: 28,439,568 (GRCm39) L49P probably benign Het
Nwd1 T A 8: 73,393,754 (GRCm39) V339D probably damaging Het
Obscn G A 11: 58,960,835 (GRCm39) Q3159* probably null Het
Patj G A 4: 98,499,372 (GRCm39) V1349I probably benign Het
Pcdha8 T A 18: 37,126,196 (GRCm39) V226D probably damaging Het
Pdgfd T A 9: 6,293,939 (GRCm39) probably null Het
Pdzd7 A C 19: 45,018,679 (GRCm39) I600S probably damaging Het
Pgpep1l G A 7: 67,888,897 (GRCm39) R45* probably null Het
Pik3c3 T C 18: 30,407,416 (GRCm39) S55P probably benign Het
Pkhd1l1 A T 15: 44,392,522 (GRCm39) D1619V probably damaging Het
Pkp1 A G 1: 135,812,641 (GRCm39) probably null Het
Ppan T A 9: 20,802,777 (GRCm39) I311N probably benign Het
Ppih C A 4: 119,167,987 (GRCm39) G175W probably damaging Het
Ppp1r8 G T 4: 132,562,026 (GRCm39) Q65K probably damaging Het
Psmd5 T A 2: 34,746,524 (GRCm39) K351M possibly damaging Het
Pth1r T C 9: 110,560,626 (GRCm39) K53R probably benign Het
Ptprn A T 1: 75,239,007 (GRCm39) F9L probably damaging Het
Rgl3 T C 9: 21,892,723 (GRCm39) I288V probably benign Het
Sds A G 5: 120,617,278 (GRCm39) I45V possibly damaging Het
Sfxn4 A T 19: 60,847,187 (GRCm39) probably null Het
Sis A T 3: 72,828,329 (GRCm39) C1220S possibly damaging Het
Slc22a16 T G 10: 40,479,660 (GRCm39) D577E probably benign Het
Slc25a10 T A 11: 120,385,340 (GRCm39) M43K possibly damaging Het
Smpd1 T C 7: 105,206,192 (GRCm39) I440T probably damaging Het
Spata6l A C 19: 28,906,013 (GRCm39) S297A probably benign Het
St6galnac6 A G 2: 32,504,941 (GRCm39) N151S probably benign Het
Taf4 G T 2: 179,571,088 (GRCm39) L742M probably damaging Het
Tctn1 A G 5: 122,402,375 (GRCm39) S20P possibly damaging Het
Tkfc A T 19: 10,572,394 (GRCm39) probably null Het
Tmem270 A G 5: 134,931,681 (GRCm39) V87A possibly damaging Het
Tpo T C 12: 30,153,169 (GRCm39) H395R probably damaging Het
Tufm T C 7: 126,088,114 (GRCm39) F206L possibly damaging Het
Tulp2 A G 7: 45,166,188 (GRCm39) probably null Het
Tulp3 G A 6: 128,303,807 (GRCm39) T264M probably damaging Het
Uqcrc2 A G 7: 120,244,440 (GRCm39) D194G possibly damaging Het
Vill C A 9: 118,894,589 (GRCm39) C415* probably null Het
Zfp799 A G 17: 33,039,256 (GRCm39) C337R probably damaging Het
Zhx2 A G 15: 57,685,270 (GRCm39) E213G 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
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'- GAGCTCCACTCAATTTGGCC -3'
(R):5'- TACAATAGGGATTTACAGGCTGTG -3'

Sequencing Primer
(F):5'- TGCTGAGAATTGAACCCAGGTCC -3'
(R):5'- GCTGTGCCTCTGGTTCTTTAAG -3'
Posted On 2019-12-20