Incidental Mutation 'IGL02415:Cep72'
ID 292387
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 # IGL02415
Quality Score
Status
Chromosome 13
Chromosomal Location 74184619-74210418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74198273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 369 (D369G)
Ref Sequence ENSEMBL: ENSMUSP00000037788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036456] [ENSMUST00000220483] [ENSMUST00000221122] [ENSMUST00000222609]
AlphaFold Q9D3R3
Predicted Effect probably benign
Transcript: ENSMUST00000036456
AA Change: D369G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: D369G

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 benign
Transcript: ENSMUST00000221122
Predicted Effect probably benign
Transcript: ENSMUST00000222609
Predicted Effect probably benign
Transcript: ENSMUST00000223028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223417
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,777,056 (GRCm39) D124G probably benign Het
Adamts13 T A 2: 26,879,295 (GRCm39) I616N possibly damaging Het
Adamts3 T C 5: 89,854,506 (GRCm39) probably null Het
Amy1 T C 3: 113,357,234 (GRCm39) I202V probably benign Het
Bdp1 G A 13: 100,225,916 (GRCm39) T322I probably damaging Het
Cep295 A G 9: 15,264,316 (GRCm39) L110S probably damaging Het
Chd3 A T 11: 69,239,739 (GRCm39) probably benign Het
Ckmt2 G A 13: 92,011,459 (GRCm39) probably benign Het
Cyp2s1 T C 7: 25,507,562 (GRCm39) T296A probably damaging Het
E2f5 T A 3: 14,668,957 (GRCm39) V283E probably benign Het
Eeig2 A G 3: 108,887,608 (GRCm39) Y219H probably damaging Het
F5 A G 1: 164,019,498 (GRCm39) T658A probably damaging Het
Gml A T 15: 74,688,289 (GRCm39) Y59* probably null Het
Kmo A T 1: 175,476,889 (GRCm39) probably benign Het
Krt25 A T 11: 99,213,398 (GRCm39) I107N probably damaging Het
Llgl2 A G 11: 115,744,111 (GRCm39) M773V probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Med12 T C X: 100,325,396 (GRCm39) V761A probably damaging Het
Mrpl19 T C 6: 81,940,942 (GRCm39) T150A probably benign Het
Muc2 G T 7: 141,305,609 (GRCm39) E646* probably null Het
Muc20 T A 16: 32,615,051 (GRCm39) T109S unknown Het
Nr2f6 T C 8: 71,827,156 (GRCm39) T382A probably benign Het
Nrap A G 19: 56,370,741 (GRCm39) I172T probably damaging Het
Or5an1 A G 19: 12,260,862 (GRCm39) Y150C probably benign Het
Or8b47 T C 9: 38,435,408 (GRCm39) C127R probably benign Het
P3h1 A T 4: 119,105,152 (GRCm39) Q710L probably benign Het
Parvb A G 15: 84,177,016 (GRCm39) H185R probably damaging Het
Pkhd1 A G 1: 20,484,645 (GRCm39) I1970T probably damaging Het
Pkhd1 T C 1: 20,592,983 (GRCm39) Y1710C probably damaging Het
Plxna2 C A 1: 194,326,272 (GRCm39) R69S probably damaging Het
Rad51ap2 A G 12: 11,506,930 (GRCm39) N284S possibly damaging Het
Reln T A 5: 22,176,949 (GRCm39) S1906C possibly damaging Het
Rln1 T C 19: 29,311,798 (GRCm39) R67G probably damaging Het
Shcbp1 C T 8: 4,804,239 (GRCm39) V224I possibly damaging Het
Slc13a4 A G 6: 35,260,172 (GRCm39) probably null Het
Stx6 A G 1: 155,069,059 (GRCm39) E195G possibly damaging Het
Sult2b1 G T 7: 45,391,509 (GRCm39) D90E possibly damaging Het
Taok1 A G 11: 77,431,066 (GRCm39) probably benign Het
Tbx15 A T 3: 99,259,826 (GRCm39) M566L probably benign Het
Tcaf1 C T 6: 42,663,584 (GRCm39) A99T probably benign Het
Tcf20 T A 15: 82,737,660 (GRCm39) M1264L probably benign Het
Tenm4 G A 7: 96,523,281 (GRCm39) V1571M probably damaging Het
Ttc39a A G 4: 109,288,726 (GRCm39) probably benign Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Ulk1 T C 5: 110,935,487 (GRCm39) D926G probably damaging Het
Vmn2r110 T C 17: 20,804,033 (GRCm39) I181V probably benign Het
Vmn2r66 G A 7: 84,656,020 (GRCm39) T332I probably damaging Het
Wdr1 C A 5: 38,688,453 (GRCm39) D161Y probably damaging Het
Wnt7a T C 6: 91,371,539 (GRCm39) Y141C probably damaging Het
Xrra1 G A 7: 99,565,150 (GRCm39) E573K probably benign Het
Zfp334 G T 2: 165,223,771 (GRCm39) Q91K possibly damaging Het
Other mutations in Cep72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Cep72 APN 13 74,210,387 (GRCm39) unclassified probably benign
IGL01373:Cep72 APN 13 74,207,578 (GRCm39) missense probably damaging 1.00
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 2015-04-16