Incidental Mutation 'R0064:Pmpca'
ID17302
Institutional Source Beutler Lab
Gene Symbol Pmpca
Ensembl Gene ENSMUSG00000026926
Gene Namepeptidase (mitochondrial processing) alpha
Synonyms4933435E07Rik, INPP5E, Alpha-MPP
MMRRC Submission 038356-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.884) question?
Stock #R0064 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location26389339-26397122 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 26395507 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 498 (D498E)
Ref Sequence ENSEMBL: ENSMUSP00000075762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076431] [ENSMUST00000114090] [ENSMUST00000114093] [ENSMUST00000145701]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028291
Predicted Effect probably benign
Transcript: ENSMUST00000076431
AA Change: D498E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
AA Change: D498E

DomainStartEndE-ValueType
Pfam:Peptidase_M16 76 226 4.5e-47 PFAM
Pfam:Peptidase_M16_C 231 430 4.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114090
SMART Domains Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925

DomainStartEndE-ValueType
low complexity region 277 294 N/A INTRINSIC
IPPc 300 602 1.27e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114093
SMART Domains Protein: ENSMUSP00000109727
Gene: ENSMUSG00000026926

DomainStartEndE-ValueType
Pfam:Peptidase_M16 76 226 1.6e-47 PFAM
Pfam:Peptidase_M16_C 231 420 9.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131109
SMART Domains Protein: ENSMUSP00000118739
Gene: ENSMUSG00000026925

DomainStartEndE-ValueType
Pfam:Exo_endo_phos 4 88 6.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139535
Predicted Effect probably benign
Transcript: ENSMUST00000144011
SMART Domains Protein: ENSMUSP00000123272
Gene: ENSMUSG00000026925

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
IPPc 21 206 1.76e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145701
SMART Domains Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925

DomainStartEndE-ValueType
low complexity region 277 294 N/A INTRINSIC
IPPc 300 602 1.27e-62 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150907
Meta Mutation Damage Score 0.066 question?
Coding Region Coverage
  • 1x: 87.7%
  • 3x: 83.1%
  • 10x: 65.7%
  • 20x: 35.9%
Validation Efficiency 92% (56/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,933,853 I377M probably benign Het
Ccdc25 T A 14: 65,854,112 I60K possibly damaging Het
Cdk1 T C 10: 69,345,077 D101G probably benign Het
Cep126 A T 9: 8,130,182 probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Crlf3 A G 11: 80,057,902 I239T possibly damaging Het
Cul1 A G 6: 47,502,415 probably benign Het
Fbp2 A T 13: 62,854,048 F118I probably damaging Het
Fgd3 T G 13: 49,296,425 D116A possibly damaging Het
Gm270 C A 13: 49,765,891 noncoding transcript Het
Knl1 T A 2: 119,076,243 N1604K probably benign Het
Lpl A G 8: 68,892,704 H120R probably damaging Het
Myo18a G T 11: 77,847,344 R1704L probably damaging Het
Nlrc3 G T 16: 3,964,087 T486K possibly damaging Het
Obscn A C 11: 59,027,466 V6260G probably damaging Het
Olfr714 T C 7: 107,074,280 F151L probably benign Het
Pnpla7 G T 2: 24,997,227 E28* probably null Het
Polg C A 7: 79,461,884 W206C probably damaging Het
Spata31 T C 13: 64,922,098 Y687H probably damaging Het
Sybu T A 15: 44,672,993 T646S probably benign Het
Tns3 G A 11: 8,435,856 Q1381* probably null Het
Trank1 A G 9: 111,343,195 D84G probably damaging Het
Urb1 A G 16: 90,779,140 F843L probably benign Het
Zfp287 A T 11: 62,714,938 L370H possibly damaging Het
Other mutations in Pmpca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Pmpca APN 2 26395569 missense probably benign
R0064:Pmpca UTSW 2 26395507 missense probably benign 0.00
R0690:Pmpca UTSW 2 26391097 missense probably damaging 1.00
R0864:Pmpca UTSW 2 26393209 splice site probably null
R0893:Pmpca UTSW 2 26393218 unclassified probably benign
R1386:Pmpca UTSW 2 26392518 missense probably damaging 0.98
R4541:Pmpca UTSW 2 26390189 unclassified probably benign
R4580:Pmpca UTSW 2 26393335 missense probably damaging 1.00
R4967:Pmpca UTSW 2 26390308 missense probably damaging 1.00
R4970:Pmpca UTSW 2 26395166 missense probably damaging 1.00
R5112:Pmpca UTSW 2 26395166 missense probably damaging 1.00
R5161:Pmpca UTSW 2 26395171 critical splice donor site probably null
R5567:Pmpca UTSW 2 26390541 missense probably damaging 1.00
R5570:Pmpca UTSW 2 26390541 missense probably damaging 1.00
R6456:Pmpca UTSW 2 26395167 missense probably damaging 1.00
Posted On2013-01-20