Incidental Mutation 'R8558:Pmpca'
ID 660824
Institutional Source Beutler Lab
Gene Symbol Pmpca
Ensembl Gene ENSMUSG00000026926
Gene Name peptidase (mitochondrial processing) alpha
Synonyms 4933435E07Rik, INPP5E, Alpha-MPP
MMRRC Submission 068521-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R8558 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 26279351-26287134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 26285046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glutamine at position 424 (E424Q)
Ref Sequence ENSEMBL: ENSMUSP00000075762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076431] [ENSMUST00000114090] [ENSMUST00000114093] [ENSMUST00000145701]
AlphaFold Q9DC61
Predicted Effect possibly damaging
Transcript: ENSMUST00000076431
AA Change: E424Q

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
AA Change: E424Q

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 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
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 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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,430,497 (GRCm39) R51S probably benign Het
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Abcb5 T C 12: 118,841,566 (GRCm39) T960A probably benign Het
Abcc3 A G 11: 94,242,623 (GRCm39) probably null Het
Adamtsl3 A T 7: 82,077,600 (GRCm39) D95V possibly damaging Het
Ash1l T A 3: 88,891,713 (GRCm39) S1197R probably damaging Het
BC034090 T A 1: 155,097,085 (GRCm39) H671L possibly damaging Het
Bltp1 T A 3: 37,102,750 (GRCm39) M1443K Het
Btnl9 T C 11: 49,071,619 (GRCm39) E68G probably benign Het
C1qtnf1 A T 11: 118,339,149 (GRCm39) Y273F probably damaging Het
C4b A T 17: 34,955,541 (GRCm39) C714S probably damaging Het
Carmil1 G A 13: 24,209,863 (GRCm39) T1204I probably benign Het
Cdk12 T C 11: 98,101,915 (GRCm39) L591P unknown Het
Ces2f T A 8: 105,679,758 (GRCm39) L417* probably null Het
Chl1 T A 6: 103,685,390 (GRCm39) S810R probably benign Het
Ckap2 A G 8: 22,658,811 (GRCm39) V644A possibly damaging Het
Ctdsp2 T A 10: 126,829,746 (GRCm39) V126E probably damaging Het
Dok6 G T 18: 89,492,066 (GRCm39) H170Q probably damaging Het
Dynlrb1 T C 2: 155,084,728 (GRCm39) probably null Het
Eif5b T C 1: 38,083,795 (GRCm39) L757S probably damaging Het
Epas1 A C 17: 87,116,896 (GRCm39) T189P possibly damaging Het
Epha10 C A 4: 124,788,777 (GRCm39) N283K Het
Epha5 C A 5: 84,206,975 (GRCm39) G853C probably damaging Het
Gapvd1 A T 2: 34,594,493 (GRCm39) H831Q probably damaging Het
Gcnt3 T A 9: 69,941,996 (GRCm39) K191* probably null Het
Gm14226 T A 2: 154,866,909 (GRCm39) S289T probably benign Het
Gm4846 T A 1: 166,314,674 (GRCm39) D323V probably damaging Het
Golga3 G T 5: 110,356,421 (GRCm39) R1036L possibly damaging Het
Gopc T C 10: 52,229,580 (GRCm39) Q213R probably damaging Het
Hrh1 G A 6: 114,457,564 (GRCm39) V282M probably benign Het
Ighv5-4 T C 12: 113,561,078 (GRCm39) Y114C probably damaging Het
Igkv10-94 A T 6: 68,681,636 (GRCm39) I68N probably damaging Het
Kcnj3 A G 2: 55,336,875 (GRCm39) D247G possibly damaging Het
Lcn6 C A 2: 25,570,718 (GRCm39) S102Y probably damaging Het
Matk C A 10: 81,096,765 (GRCm39) H232N probably benign Het
Mcm9 C T 10: 53,492,068 (GRCm39) V366I probably benign Het
Nadk A G 4: 155,669,844 (GRCm39) I176V probably benign Het
Nlrp12 A G 7: 3,298,111 (GRCm39) L20P probably damaging Het
Oga T C 19: 45,746,511 (GRCm39) S763G probably benign Het
Or10ag56 A T 2: 87,139,583 (GRCm39) Q170L probably benign Het
Or1e21 G A 11: 73,344,309 (GRCm39) S243F probably damaging Het
Or4a72 A G 2: 89,405,329 (GRCm39) L247P probably damaging Het
Pcdhgb6 T A 18: 37,877,237 (GRCm39) D648E probably damaging Het
Pkd1l3 A T 8: 110,362,012 (GRCm39) N1018I probably damaging Het
Plch2 T C 4: 155,083,391 (GRCm39) K516E probably damaging Het
Pnma2 C T 14: 67,153,972 (GRCm39) A132V probably benign Het
Prkn T C 17: 11,456,472 (GRCm39) S99P probably benign Het
Prune2 A G 19: 17,099,602 (GRCm39) E1702G probably damaging Het
Qars1 T A 9: 108,392,422 (GRCm39) H756Q probably benign Het
Rab5a A G 17: 53,790,877 (GRCm39) probably benign Het
Rars2 A G 4: 34,657,199 (GRCm39) D515G probably damaging Het
Rpe65 T A 3: 159,320,429 (GRCm39) C329S probably damaging Het
Rps6ka2 G A 17: 7,523,316 (GRCm39) V231M possibly damaging Het
Rsf1 GCG GCGACGGCGCCG 7: 97,229,114 (GRCm39) probably benign Het
Scrt1 G T 15: 76,403,843 (GRCm39) S49* probably null Het
Sec23b C G 2: 144,428,308 (GRCm39) D640E possibly damaging Het
Setdb1 C T 3: 95,261,979 (GRCm39) V96M possibly damaging Het
Sik3 C A 9: 46,066,746 (GRCm39) A175E probably damaging Het
Smarcad1 A G 6: 65,060,908 (GRCm39) K463E probably benign Het
Sobp A C 10: 43,003,888 (GRCm39) C154G probably damaging Het
Sox6 A G 7: 115,141,033 (GRCm39) S482P probably benign Het
Spen C T 4: 141,197,681 (GRCm39) A3396T probably benign Het
Spink11 T A 18: 44,324,748 (GRCm39) R75* probably null Het
Sptb T C 12: 76,659,561 (GRCm39) H1113R probably benign Het
Sypl2 A T 3: 108,125,004 (GRCm39) V119E probably damaging Het
Tbc1d24 T C 17: 24,427,903 (GRCm39) S20G unknown Het
Tektl1 T C 10: 78,583,035 (GRCm39) K450E probably damaging Het
Top2a A T 11: 98,912,549 (GRCm39) V106D probably damaging Het
Tspyl4 G C 10: 34,174,261 (GRCm39) R251P probably damaging Het
Ttc21a T A 9: 119,787,835 (GRCm39) L801Q probably damaging Het
Vgll3 A G 16: 65,624,844 (GRCm39) E64G probably damaging Het
Vmn2r30 A G 7: 7,315,655 (GRCm39) I726T possibly damaging Het
Vmn2r81 T C 10: 79,106,467 (GRCm39) S482P possibly damaging Het
Wasf1 T G 10: 40,806,648 (GRCm39) M97R possibly damaging Het
Wdr33 T A 18: 31,962,947 (GRCm39) M98K probably benign Het
Wdr73 G A 7: 80,548,254 (GRCm39) T95I 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
R5161:Pmpca UTSW 2 26,285,183 (GRCm39) critical splice donor site probably null
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
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'- GGACATGTGTTTCTGTCCCG -3'
(R):5'- GCATCAGGGCAGTCTCAAATG -3'

Sequencing Primer
(F):5'- GAAGGCTTTTCCAATGTAGTTCC -3'
(R):5'- GGGCAGTCTCAAATGATCCC -3'
Posted On 2021-03-08