Incidental Mutation 'R8417:Clpp'
ID 653015
Institutional Source Beutler Lab
Gene Symbol Clpp
Ensembl Gene ENSMUSG00000002660
Gene Name caseinolytic mitochondrial matrix peptidase proteolytic subunit
Synonyms D17Wsu160e
MMRRC Submission 067771-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.786) question?
Stock # R8417 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 57297305-57303188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57297661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 81 (V81A)
Ref Sequence ENSEMBL: ENSMUSP00000002735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002735]
AlphaFold O88696
Predicted Effect probably benign
Transcript: ENSMUST00000002735
AA Change: V81A

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002735
Gene: ENSMUSG00000002660
AA Change: V81A

DomainStartEndE-ValueType
Pfam:CLP_protease 63 244 8.8e-82 PFAM
low complexity region 259 270 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T C 9: 21,440,381 (GRCm39) probably null Het
Adamtsl1 G A 4: 86,074,926 (GRCm39) D98N possibly damaging Het
Adgrb3 T C 1: 25,527,134 (GRCm39) T601A probably benign Het
Ankrd33 C A 15: 101,017,330 (GRCm39) Q248K probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Casp12 G T 9: 5,352,263 (GRCm39) C155F probably benign Het
Ccn6 T A 10: 39,027,207 (GRCm39) R342* probably null Het
Cyp3a59 A T 5: 146,027,495 (GRCm39) I89F possibly damaging Het
Fam227b C A 2: 125,962,982 (GRCm39) W178L probably damaging Het
Fcna C A 2: 25,514,863 (GRCm39) R332L probably damaging Het
Gdf3 T G 6: 122,583,566 (GRCm39) H267P probably damaging Het
Gm5592 A G 7: 40,937,975 (GRCm39) D419G probably benign Het
Gm6882 A G 7: 21,161,220 (GRCm39) V216A probably damaging Het
Gsdma3 A G 11: 98,520,603 (GRCm39) N78S probably benign Het
Hsd3b9 G A 3: 98,363,731 (GRCm39) T38I probably benign Het
Hydin T C 8: 111,296,024 (GRCm39) I3579T probably benign Het
Ighmbp2 T C 19: 3,311,590 (GRCm39) I942V probably damaging Het
Lamc1 A G 1: 153,106,515 (GRCm39) Y1266H probably damaging Het
Lgi3 T C 14: 70,772,246 (GRCm39) Y264H probably benign Het
Lmod2 G A 6: 24,603,384 (GRCm39) E120K possibly damaging Het
Mbl2 G T 19: 30,216,884 (GRCm39) C232F probably damaging Het
Morc1 T C 16: 48,281,103 (GRCm39) V214A probably damaging Het
Nlrp4b T A 7: 10,459,880 (GRCm39) C827* probably null Het
Or12k5 T A 2: 36,894,658 (GRCm39) T323S probably benign Het
Or5t7 A G 2: 86,507,149 (GRCm39) F176S probably damaging Het
Pbrm1 T A 14: 30,749,419 (GRCm39) H72Q possibly damaging Het
Plekhm2 T C 4: 141,355,136 (GRCm39) I944V probably benign Het
Prdm8 A T 5: 98,332,390 (GRCm39) D97V probably damaging Het
Preb G A 5: 31,117,461 (GRCm39) probably benign Het
Prkcd T C 14: 30,331,208 (GRCm39) K56E probably benign Het
Slit3 A T 11: 35,501,438 (GRCm39) I391F probably damaging Het
Spata19 A G 9: 27,309,266 (GRCm39) S91G probably benign Het
Stag3 A G 5: 138,306,850 (GRCm39) T1134A probably benign Het
Tgfbr2 A T 9: 115,939,197 (GRCm39) M235K probably benign Het
Tmtc2 A T 10: 105,249,097 (GRCm39) I212N probably damaging Het
Tnfrsf26 C T 7: 143,168,639 (GRCm39) R133K probably benign Het
Trim43c C A 9: 88,725,191 (GRCm39) Q238K probably benign Het
Vcan T C 13: 89,836,862 (GRCm39) D2894G probably benign Het
Zeb2 C T 2: 44,913,008 (GRCm39) S105N probably damaging Het
Other mutations in Clpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0722:Clpp UTSW 17 57,299,901 (GRCm39) missense probably damaging 0.99
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
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'- TCATCCCCATAGTGGTGGAG -3'
(R):5'- TTGGGAAGCTATGGCAGGAC -3'

Sequencing Primer
(F):5'- CCCATAGTGGTGGAGCAGAC -3'
(R):5'- GGGCTAGCCTGTACTACAAAGC -3'
Posted On 2020-10-20