Incidental Mutation 'R0722:Clpp'
ID 218785
Institutional Source Beutler Lab
Gene Symbol Clpp
Ensembl Gene ENSMUSG00000002660
Gene Name caseinolytic mitochondrial matrix peptidase proteolytic subunit
Synonyms D17Wsu160e
MMRRC Submission 038904-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R0722 (G1)
Quality Score 27
Status Validated
Chromosome 17
Chromosomal Location 57297305-57303188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57299901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 144 (V144A)
Ref Sequence ENSEMBL: ENSMUSP00000002735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002735] [ENSMUST00000002737] [ENSMUST00000074141]
AlphaFold O88696
Predicted Effect probably damaging
Transcript: ENSMUST00000002735
AA Change: V144A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000002735
Gene: ENSMUSG00000002660
AA Change: V144A

DomainStartEndE-ValueType
Pfam:CLP_protease 63 244 8.8e-82 PFAM
low complexity region 259 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002737
SMART Domains Protein: ENSMUSP00000002737
Gene: ENSMUSG00000002661

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 64 203 8.2e-14 PFAM
low complexity region 206 219 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074141
SMART Domains Protein: ENSMUSP00000073775
Gene: ENSMUSG00000002661

DomainStartEndE-ValueType
Pfam:2OG-FeII_Oxy_2 63 145 3.8e-12 PFAM
low complexity region 148 161 N/A INTRINSIC
Meta Mutation Damage Score 0.2597 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit infertility, hearing loss, growth retardation, reduced activity, T cell activation, increased mitochondrial DNA and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 T C 11: 80,047,810 (GRCm39) F89L possibly damaging Het
Akr1c13 A G 13: 4,247,931 (GRCm39) probably null Het
Atp10a A G 7: 58,465,931 (GRCm39) I1053V possibly damaging Het
Bmper G T 9: 23,285,224 (GRCm39) V258L probably benign Het
Brd4 T C 17: 32,431,956 (GRCm39) H636R possibly damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccbe1 C T 18: 66,217,877 (GRCm39) C112Y probably damaging Het
Ccdc28b T A 4: 129,514,945 (GRCm39) probably null Het
Cd320 T C 17: 34,065,004 (GRCm39) S46P possibly damaging Het
Cfap251 T A 5: 123,394,248 (GRCm39) V379E probably damaging Het
Cfap44 G A 16: 44,225,039 (GRCm39) E95K possibly damaging Het
Crtam A T 9: 40,903,912 (GRCm39) C96S probably damaging Het
Dcst1 C T 3: 89,261,112 (GRCm39) R480H probably benign Het
Dock2 A T 11: 34,414,970 (GRCm39) probably benign Het
Ermard A G 17: 15,242,390 (GRCm39) T189A probably benign Het
Gm10840 A G 11: 106,051,902 (GRCm39) probably benign Het
Gm4845 T A 1: 141,184,598 (GRCm39) noncoding transcript Het
Heatr1 A G 13: 12,420,918 (GRCm39) E403G probably benign Het
Herc4 A G 10: 63,121,844 (GRCm39) I399V probably null Het
Htr1f A G 16: 64,746,254 (GRCm39) I346T probably damaging Het
Igf2r T C 17: 12,934,382 (GRCm39) probably null Het
Jmy G A 13: 93,589,325 (GRCm39) T644I probably benign Het
Kcnn2 T C 18: 45,692,543 (GRCm39) C40R possibly damaging Het
Krt13 T G 11: 100,009,979 (GRCm39) K297T probably damaging Het
Lrba T C 3: 86,513,296 (GRCm39) probably null Het
Lrrc8b T C 5: 105,627,978 (GRCm39) V108A possibly damaging Het
Lrrc8c T A 5: 105,727,414 (GRCm39) V26E probably damaging Het
Or10g6 A G 9: 39,934,295 (GRCm39) D202G probably damaging Het
Or5p6 A G 7: 107,631,541 (GRCm39) F3S probably benign Het
Pcna A G 2: 132,093,155 (GRCm39) probably benign Het
Pgm2 A T 5: 64,265,022 (GRCm39) R348* probably null Het
Pikfyve T G 1: 65,292,682 (GRCm39) S1378A probably damaging Het
Pkp2 T C 16: 16,064,892 (GRCm39) V472A probably benign Het
Pld5 A G 1: 175,803,081 (GRCm39) F395L probably benign Het
Plekhb1 A T 7: 100,294,810 (GRCm39) Y169N probably damaging Het
Polr2c T A 8: 95,589,265 (GRCm39) Y186N probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prr5l A G 2: 101,547,819 (GRCm39) probably benign Het
Ptbp2 C T 3: 119,514,570 (GRCm39) R419Q possibly damaging Het
Ralgapa2 A G 2: 146,230,451 (GRCm39) V1038A probably damaging Het
Rassf2 A G 2: 131,844,830 (GRCm39) V204A probably damaging Het
Slc22a22 T C 15: 57,119,949 (GRCm39) probably null Het
Slit1 T C 19: 41,596,874 (GRCm39) Y1075C probably damaging Het
Smc5 C A 19: 23,186,291 (GRCm39) L1055F probably damaging Het
Spidr A G 16: 15,730,645 (GRCm39) F620S probably damaging Het
Susd1 A G 4: 59,379,749 (GRCm39) S293P possibly damaging Het
Tepsin A G 11: 119,986,163 (GRCm39) probably benign Het
Vmn2r68 A T 7: 84,870,794 (GRCm39) L830I possibly damaging Het
Vtn A G 11: 78,391,680 (GRCm39) probably benign Het
Zfp267 C T 3: 36,219,218 (GRCm39) H414Y probably benign Het
Zfp280d T G 9: 72,219,383 (GRCm39) S162A possibly damaging Het
Zfp608 T G 18: 55,033,306 (GRCm39) K409T probably damaging Het
Zfp738 A T 13: 67,819,643 (GRCm39) M116K probably benign Het
Other mutations in Clpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1891:Clpp UTSW 17 57,298,307 (GRCm39) missense probably damaging 0.99
R1950:Clpp UTSW 17 57,303,039 (GRCm39) unclassified probably benign
R7089:Clpp UTSW 17 57,297,421 (GRCm39) missense probably benign 0.01
R8417:Clpp UTSW 17 57,297,661 (GRCm39) missense probably benign 0.31
R8944:Clpp UTSW 17 57,300,553 (GRCm39) nonsense probably null
R8953:Clpp UTSW 17 57,298,373 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACAACATTTGCCCTTGTGGCTTG -3'
(R):5'- ATTTCCTCTGCCTGGATGGCGATG -3'

Sequencing Primer
(F):5'- CCTTGTGGCTTGCTGGAAG -3'
(R):5'- agcctgtctctgcctctg -3'
Posted On 2014-08-20