Incidental Mutation 'R5161:Pmpca'
ID 396975
Institutional Source Beutler Lab
Gene Symbol Pmpca
Ensembl Gene ENSMUSG00000026926
Gene Name peptidase (mitochondrial processing) alpha
Synonyms 4933435E07Rik, INPP5E, Alpha-MPP
MMRRC Submission 042743-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5161 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26279351-26287134 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 26285183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076431] [ENSMUST00000114090] [ENSMUST00000114093] [ENSMUST00000145701]
AlphaFold Q9DC61
Predicted Effect noncoding transcript
Transcript: ENSMUST00000028291
Predicted Effect probably null
Transcript: ENSMUST00000076431
SMART Domains Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926

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: ENSMUST00000146061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150907
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137686
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,055,344 (GRCm39) E27* probably null Het
4930407I10Rik G T 15: 81,947,542 (GRCm39) E480* probably null Het
Acad11 T C 9: 104,001,227 (GRCm39) I591T probably benign Het
Acsbg3 A T 17: 57,189,888 (GRCm39) I305F possibly damaging Het
Adamts13 G A 2: 26,883,020 (GRCm39) E857K probably benign Het
Atf2 A C 2: 73,660,134 (GRCm39) probably null Het
Cass4 C A 2: 172,274,244 (GRCm39) A675E probably damaging Het
Coa8 C A 12: 111,689,208 (GRCm39) Q97K possibly damaging Het
Ctsd A T 7: 141,930,881 (GRCm39) L283Q probably damaging Het
Ddrgk1 A T 2: 130,505,296 (GRCm39) M1K probably null Het
Dipk1b C T 2: 26,526,260 (GRCm39) T398M possibly damaging Het
Dock1 G A 7: 134,335,791 (GRCm39) A62T possibly damaging Het
Ehmt1 T C 2: 24,748,207 (GRCm39) D407G possibly damaging Het
Eif1ad17 T A 12: 87,978,887 (GRCm39) D90E possibly damaging Het
Eml6 A G 11: 29,974,467 (GRCm39) V37A probably damaging Het
Fam20a C T 11: 109,564,196 (GRCm39) R519Q probably benign Het
Fat1 A G 8: 45,405,549 (GRCm39) T767A probably benign Het
Fbxl8 A T 8: 105,995,538 (GRCm39) H350L possibly damaging Het
Gm10226 A C 17: 21,910,834 (GRCm39) Q23P possibly damaging Het
Gm38706 A T 6: 130,459,868 (GRCm39) noncoding transcript Het
Gpatch2l G T 12: 86,313,950 (GRCm39) R362L probably benign Het
Hyal5 A T 6: 24,891,602 (GRCm39) D472V probably benign Het
Ighv5-9-1 T C 12: 113,699,777 (GRCm39) S102G possibly damaging Het
Itpripl1 A C 2: 126,983,777 (GRCm39) L115R probably damaging Het
Itsn1 G A 16: 91,705,726 (GRCm39) C169Y possibly damaging Het
Krt88 T A 15: 101,348,349 (GRCm39) C12S probably benign Het
Macroh2a1 T C 13: 56,237,594 (GRCm39) D222G probably benign Het
Muc4 G A 16: 32,582,895 (GRCm39) V2557M probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nbeal2 G T 9: 110,458,936 (GRCm39) Q1996K probably benign Het
Obscn T C 11: 58,919,430 (GRCm39) E6205G probably damaging Het
Obscn A G 11: 58,955,136 (GRCm39) Y3926H possibly damaging Het
Or14a259 T C 7: 86,013,546 (GRCm39) probably null Het
Or5an10 A T 19: 12,276,153 (GRCm39) S114R probably damaging Het
P2ry2 A T 7: 100,648,136 (GRCm39) Y56* probably null Het
Pate10 T A 9: 35,652,884 (GRCm39) L42* probably null Het
Pde1a T C 2: 79,708,488 (GRCm39) N242S probably null Het
Pik3cg C T 12: 32,254,977 (GRCm39) E337K possibly damaging Het
Plxna2 A G 1: 194,433,712 (GRCm39) N587S probably benign Het
Ptpn4 C T 1: 119,635,593 (GRCm39) W370* probably null Het
Qki A T 17: 10,434,419 (GRCm39) probably null Het
Rapgef3 A G 15: 97,655,606 (GRCm39) V427A probably damaging Het
Rbbp8 T G 18: 11,855,171 (GRCm39) D465E probably damaging Het
Scn2a A G 2: 65,594,935 (GRCm39) K1928R probably benign Het
Slc5a5 A C 8: 71,341,492 (GRCm39) C346G probably damaging Het
Spata2l A G 8: 123,962,288 (GRCm39) L91P probably damaging Het
Syt3 C A 7: 44,045,439 (GRCm39) H560N possibly damaging Het
Timm23 G A 14: 31,915,882 (GRCm39) P63L probably damaging Het
Tmem191 T C 16: 17,094,743 (GRCm39) S108P possibly damaging Het
Ttc21b A G 2: 66,059,367 (GRCm39) C545R probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp17ld A T 7: 102,899,579 (GRCm39) L451* probably null Het
Vmn1r15 T C 6: 57,235,497 (GRCm39) Y122H probably benign Het
Vxn G T 1: 9,692,902 (GRCm39) G145* probably null Het
Zfp1002 A T 2: 150,097,135 (GRCm39) I98K probably damaging Het
Other mutations in Pmpca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Pmpca APN 2 26,285,581 (GRCm39) missense probably benign
R0064:Pmpca UTSW 2 26,285,519 (GRCm39) missense probably benign 0.00
R0064:Pmpca UTSW 2 26,285,519 (GRCm39) missense probably benign 0.00
R0690:Pmpca UTSW 2 26,281,109 (GRCm39) missense probably damaging 1.00
R0864:Pmpca UTSW 2 26,283,221 (GRCm39) splice site probably null
R0893:Pmpca UTSW 2 26,283,230 (GRCm39) unclassified probably benign
R1386:Pmpca UTSW 2 26,282,530 (GRCm39) missense probably damaging 0.98
R4541:Pmpca UTSW 2 26,280,201 (GRCm39) unclassified probably benign
R4580:Pmpca UTSW 2 26,283,347 (GRCm39) missense probably damaging 1.00
R4967:Pmpca UTSW 2 26,280,320 (GRCm39) missense probably damaging 1.00
R4970:Pmpca UTSW 2 26,285,178 (GRCm39) missense probably damaging 1.00
R5112:Pmpca UTSW 2 26,285,178 (GRCm39) missense probably damaging 1.00
R5567:Pmpca UTSW 2 26,280,553 (GRCm39) missense probably damaging 1.00
R5570:Pmpca UTSW 2 26,280,553 (GRCm39) missense probably damaging 1.00
R6456:Pmpca UTSW 2 26,285,179 (GRCm39) missense probably damaging 1.00
R7203:Pmpca UTSW 2 26,285,046 (GRCm39) missense possibly damaging 0.91
R7249:Pmpca UTSW 2 26,285,046 (GRCm39) missense possibly damaging 0.91
R7251:Pmpca UTSW 2 26,285,046 (GRCm39) missense possibly damaging 0.91
R7252:Pmpca UTSW 2 26,285,046 (GRCm39) missense possibly damaging 0.91
R7827:Pmpca UTSW 2 26,280,144 (GRCm39) missense possibly damaging 0.51
R7971:Pmpca UTSW 2 26,283,164 (GRCm39) missense probably damaging 1.00
R8461:Pmpca UTSW 2 26,285,046 (GRCm39) missense possibly damaging 0.91
R8558:Pmpca UTSW 2 26,285,046 (GRCm39) missense possibly damaging 0.91
R8671:Pmpca UTSW 2 26,285,046 (GRCm39) missense possibly damaging 0.91
R8674:Pmpca UTSW 2 26,285,046 (GRCm39) missense possibly damaging 0.91
R8717:Pmpca UTSW 2 26,281,893 (GRCm39) missense probably damaging 1.00
R8737:Pmpca UTSW 2 26,283,531 (GRCm39) missense probably damaging 1.00
R9042:Pmpca UTSW 2 26,283,581 (GRCm39) missense probably benign 0.00
R9181:Pmpca UTSW 2 26,283,365 (GRCm39) missense probably damaging 1.00
R9600:Pmpca UTSW 2 26,282,598 (GRCm39) missense probably benign 0.03
R9621:Pmpca UTSW 2 26,279,988 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCACATGGAGATTTCTTTGCTGAG -3'
(R):5'- AGTGACCAGATGCCTCCTTC -3'

Sequencing Primer
(F):5'- TCTTGAGCCAGCTGTCGAG -3'
(R):5'- TTCCCAAGGCTGAGGAGC -3'
Posted On 2016-06-21