Incidental Mutation 'IGL01373:Cep72'
ID 84089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep72
Ensembl Gene ENSMUSG00000021572
Gene Name centrosomal protein 72
Synonyms 2610029E11Rik, 4933440J22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL01373
Quality Score
Status
Chromosome 13
Chromosomal Location 74184619-74210418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74207578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 64 (S64P)
Ref Sequence ENSEMBL: ENSMUSP00000037788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036456] [ENSMUST00000220483] [ENSMUST00000222609]
AlphaFold Q9D3R3
Predicted Effect probably damaging
Transcript: ENSMUST00000036456
AA Change: S64P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: S64P

DomainStartEndE-ValueType
LRR 52 73 2.92e1 SMART
LRR 74 96 5.34e-1 SMART
LRRcap 116 134 1.89e-4 SMART
low complexity region 307 319 N/A INTRINSIC
low complexity region 378 389 N/A INTRINSIC
low complexity region 417 428 N/A INTRINSIC
coiled coil region 485 531 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220483
Predicted Effect probably damaging
Transcript: ENSMUST00000222609
AA Change: S57P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000223028
AA Change: S63P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223031
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the leucine-rich-repeat (LRR) superfamily of proteins. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,310,642 (GRCm39) R510* probably null Het
Adamts12 A T 15: 11,310,816 (GRCm39) E1024D probably benign Het
Aff2 T A X: 68,911,335 (GRCm39) D1239E possibly damaging Het
Agps T C 2: 75,683,128 (GRCm39) V151A probably benign Het
Cables1 A T 18: 12,021,821 (GRCm39) R276S probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,236,055 (GRCm39) E369G probably damaging Het
Dnah6 A G 6: 73,051,731 (GRCm39) L3021P probably benign Het
Esyt1 T C 10: 128,354,810 (GRCm39) E530G possibly damaging Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbxw24 C T 9: 109,452,701 (GRCm39) G98D probably damaging Het
Folh1 T C 7: 86,395,350 (GRCm39) I361V probably benign Het
Gpr19 T A 6: 134,847,284 (GRCm39) H41L possibly damaging Het
Kcnq4 A G 4: 120,574,229 (GRCm39) V143A probably damaging Het
Larp7-ps A G 4: 92,079,862 (GRCm39) V42A probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lpin3 G T 2: 160,745,649 (GRCm39) D651Y probably damaging Het
Ms4a6b A T 19: 11,506,871 (GRCm39) H220L possibly damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Nxnl2 T C 13: 51,325,488 (GRCm39) F44L probably damaging Het
Or11g2 T A 14: 50,856,069 (GRCm39) I130N probably damaging Het
Or2ag16 T C 7: 106,351,653 (GRCm39) probably benign Het
Pcdhb20 A T 18: 37,639,621 (GRCm39) R716W probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Plekhf1 T C 7: 37,921,221 (GRCm39) T116A probably benign Het
Psmb2 G T 4: 126,580,885 (GRCm39) R93L probably damaging Het
Pstpip2 T A 18: 77,922,916 (GRCm39) L42* probably null Het
Ptpn22 A T 3: 103,793,520 (GRCm39) D557V probably damaging Het
Rbbp5 G A 1: 132,420,339 (GRCm39) V191I probably benign Het
Rgs1 T A 1: 144,121,116 (GRCm39) D185V probably damaging Het
Selenoh A G 2: 84,500,938 (GRCm39) probably benign Het
Slc6a5 C T 7: 49,567,481 (GRCm39) P312S probably benign Het
Snapc1 T A 12: 74,011,454 (GRCm39) M40K probably benign Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Syne2 T C 12: 76,033,881 (GRCm39) I3710T probably damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tex9 A T 9: 72,388,036 (GRCm39) D134E possibly damaging Het
Ttc41 G T 10: 86,611,821 (GRCm39) C1063F possibly damaging Het
Usp38 C A 8: 81,716,647 (GRCm39) A496S possibly damaging Het
Vmn2r13 T A 5: 109,304,568 (GRCm39) Y621F probably damaging Het
Vmn2r67 T A 7: 84,785,834 (GRCm39) M724L probably benign Het
Other mutations in Cep72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Cep72 APN 13 74,210,387 (GRCm39) unclassified probably benign
IGL02415:Cep72 APN 13 74,198,273 (GRCm39) missense probably benign 0.31
IGL03372:Cep72 APN 13 74,191,637 (GRCm39) missense possibly damaging 0.47
R0608:Cep72 UTSW 13 74,186,423 (GRCm39) missense probably damaging 1.00
R0884:Cep72 UTSW 13 74,203,000 (GRCm39) critical splice donor site probably null
R2400:Cep72 UTSW 13 74,197,096 (GRCm39) missense probably damaging 0.99
R4906:Cep72 UTSW 13 74,207,584 (GRCm39) missense probably damaging 1.00
R5534:Cep72 UTSW 13 74,210,335 (GRCm39) missense probably benign 0.05
R5567:Cep72 UTSW 13 74,188,260 (GRCm39) missense probably benign 0.00
R5570:Cep72 UTSW 13 74,188,260 (GRCm39) missense probably benign 0.00
R5816:Cep72 UTSW 13 74,197,150 (GRCm39) missense probably benign 0.43
R6310:Cep72 UTSW 13 74,201,144 (GRCm39) missense possibly damaging 0.94
R6513:Cep72 UTSW 13 74,206,582 (GRCm39) missense probably damaging 1.00
R6848:Cep72 UTSW 13 74,186,395 (GRCm39) missense possibly damaging 0.85
R6936:Cep72 UTSW 13 74,188,206 (GRCm39) missense probably damaging 1.00
R7000:Cep72 UTSW 13 74,206,444 (GRCm39) missense probably damaging 0.96
R7006:Cep72 UTSW 13 74,198,427 (GRCm39) nonsense probably null
R7074:Cep72 UTSW 13 74,199,699 (GRCm39) missense probably benign 0.16
R7640:Cep72 UTSW 13 74,206,607 (GRCm39) nonsense probably null
R7889:Cep72 UTSW 13 74,198,241 (GRCm39) missense possibly damaging 0.84
R8260:Cep72 UTSW 13 74,206,465 (GRCm39) missense probably damaging 1.00
R8751:Cep72 UTSW 13 74,198,303 (GRCm39) missense possibly damaging 0.60
R8789:Cep72 UTSW 13 74,186,367 (GRCm39) missense possibly damaging 0.83
R9202:Cep72 UTSW 13 74,198,420 (GRCm39) missense probably benign 0.01
Posted On 2013-11-11