Incidental Mutation 'R6513:Cep72'
ID 520024
Institutional Source Beutler Lab
Gene Symbol Cep72
Ensembl Gene ENSMUSG00000021572
Gene Name centrosomal protein 72
Synonyms 2610029E11Rik, 4933440J22Rik
MMRRC Submission 044640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R6513 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 74184619-74210418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74206582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 73 (L73H)
Ref Sequence ENSEMBL: ENSMUSP00000152641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036456] [ENSMUST00000220483] [ENSMUST00000222609]
AlphaFold Q9D3R3
Predicted Effect probably damaging
Transcript: ENSMUST00000036456
AA Change: L80H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037788
Gene: ENSMUSG00000021572
AA Change: L80H

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 silent
Transcript: ENSMUST00000220483
Predicted Effect probably damaging
Transcript: ENSMUST00000222609
AA Change: L73H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000223028
AA Change: L79H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223031
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 98% (62/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,654 (GRCm39) S161G probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ankrd11 A G 8: 123,616,919 (GRCm39) V2290A probably benign Het
Aox4 A G 1: 58,252,212 (GRCm39) N29S probably benign Het
Arhgap17 T C 7: 122,891,379 (GRCm39) R592G possibly damaging Het
Caap1 A T 4: 94,389,640 (GRCm39) D231E possibly damaging Het
Cabp1 T A 5: 115,307,193 (GRCm39) M165L possibly damaging Het
Calhm4 T A 10: 33,917,630 (GRCm39) R274* probably null Het
Cfap74 A G 4: 155,525,743 (GRCm39) S731G probably null Het
Dsc2 T C 18: 20,179,295 (GRCm39) I258V probably benign Het
Dsg1c T G 18: 20,407,687 (GRCm39) N344K probably benign Het
Enah A G 1: 181,841,920 (GRCm39) probably benign Het
Fbn1 T A 2: 125,225,591 (GRCm39) S554C probably damaging Het
Fkrp C A 7: 16,545,037 (GRCm39) R275L possibly damaging Het
Gbp4 C T 5: 105,270,986 (GRCm39) G215D possibly damaging Het
Gli2 G A 1: 118,783,284 (GRCm39) L239F probably damaging Het
Gpr146 A G 5: 139,378,573 (GRCm39) D125G probably damaging Het
Hectd4 C A 5: 121,494,259 (GRCm39) probably null Het
Invs G A 4: 48,397,534 (GRCm39) V370I possibly damaging Het
Kdm2b A G 5: 123,018,302 (GRCm39) V1040A probably damaging Het
Kidins220 T A 12: 25,088,434 (GRCm39) V1059D possibly damaging Het
Kif26a T A 12: 112,141,926 (GRCm39) S727T probably damaging Het
Kifbp T C 10: 62,410,813 (GRCm39) probably null Het
Klk1b27 A G 7: 43,705,169 (GRCm39) H112R probably benign Het
Krt72 T G 15: 101,685,187 (GRCm39) probably null Het
Lactb C T 9: 66,878,172 (GRCm39) R219H probably damaging Het
Lrig2 A T 3: 104,373,045 (GRCm39) I612N probably damaging Het
Meaf6 A C 4: 124,983,697 (GRCm39) N51T probably damaging Het
Mtap A G 4: 89,066,498 (GRCm39) T36A possibly damaging Het
Myo3a G A 2: 22,412,143 (GRCm39) G713S probably damaging Het
Nr4a3 C T 4: 48,083,255 (GRCm39) T596I probably damaging Het
Or10ak14 A T 4: 118,611,224 (GRCm39) C172* probably null Het
Or4f14 C G 2: 111,743,228 (GRCm39) G16R possibly damaging Het
Pam A G 1: 97,765,752 (GRCm39) V759A possibly damaging Het
Pcare T A 17: 72,051,701 (GRCm39) E1217V probably damaging Het
Pds5a T A 5: 65,772,944 (GRCm39) I1220F probably benign Het
Phldb2 T A 16: 45,568,240 (GRCm39) M1222L possibly damaging Het
Phospho1 C T 11: 95,721,513 (GRCm39) A61V possibly damaging Het
Pnpla7 G A 2: 24,906,550 (GRCm39) V638I possibly damaging Het
Pramel34 C A 5: 93,785,391 (GRCm39) probably null Het
Ptf1a T A 2: 19,451,848 (GRCm39) D282E probably damaging Het
Ptgs2 A T 1: 149,975,879 (GRCm39) probably benign Het
Racgap1 T C 15: 99,522,156 (GRCm39) R471G probably damaging Het
Rptn T C 3: 93,303,419 (GRCm39) S251P possibly damaging Het
Shcbp1 T C 8: 4,794,507 (GRCm39) M429V probably benign Het
Shprh T C 10: 11,062,637 (GRCm39) L1248P probably damaging Het
Son T C 16: 91,456,835 (GRCm39) probably benign Het
Sppl3 T C 5: 115,233,995 (GRCm39) L355P probably damaging Het
Tbc1d31 A T 15: 57,818,778 (GRCm39) R794W probably damaging Het
Telo2 T C 17: 25,320,386 (GRCm39) Y766C probably damaging Het
Tfr2 A G 5: 137,572,793 (GRCm39) probably null Het
Tle4 T C 19: 14,429,056 (GRCm39) D722G probably damaging Het
Tprg1l A G 4: 154,243,862 (GRCm39) V98A probably benign Het
Trak1 C T 9: 121,272,822 (GRCm39) R237C probably benign Het
Vmn2r113 T C 17: 23,177,715 (GRCm39) I833T probably damaging Het
Vmn2r118 T A 17: 55,915,093 (GRCm39) S518C probably damaging Het
Vmn2r49 A G 7: 9,710,524 (GRCm39) I736T probably damaging Het
Wdr38 T A 2: 38,889,970 (GRCm39) probably null Het
Wee2 A G 6: 40,429,553 (GRCm39) E180G probably benign Het
Zbtb1 T C 12: 76,432,604 (GRCm39) S197P possibly damaging Het
Zc3h7a T C 16: 10,976,629 (GRCm39) probably null Het
Zfp516 T A 18: 82,973,835 (GRCm39) L11Q probably damaging Het
Zfp623 G A 15: 75,819,317 (GRCm39) R91H probably benign Het
Zkscan7 G A 9: 122,725,170 (GRCm39) R713Q probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCATAATCTATCCAGGAGCAGCTC -3'
(R):5'- TGGTTGTTGCCCTATATGGAAC -3'

Sequencing Primer
(F):5'- CTCCACTGTGGGCGGTTG -3'
(R):5'- GTTCCACTTGATTAGCCCATA -3'
Posted On 2018-06-06