Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Pmpca'

661135

Institutional Source

Beutler Lab

Gene Symbol

Pmpca

Ensembl Gene

ENSMUSG00000026926

Gene Name

peptidase (mitochondrial processing) alpha

Synonyms

4933435E07Rik, INPP5E, Alpha-MPP

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26389339-26397122 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 26395034 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Exo_endo_phos	4	88	6.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144011

SMART Domains

Protein: ENSMUSP00000123272
Gene: ENSMUSG00000026925

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	Het

Other mutations in Pmpca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02164:Pmpca	APN	2	26395569	missense	probably benign
R0064:Pmpca	UTSW	2	26395507	missense	probably benign	0.00
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
R7203:Pmpca	UTSW	2	26395034	missense	possibly damaging	0.91
R7249:Pmpca	UTSW	2	26395034	missense	possibly damaging	0.91
R7251:Pmpca	UTSW	2	26395034	missense	possibly damaging	0.91
R7252:Pmpca	UTSW	2	26395034	missense	possibly damaging	0.91
R7827:Pmpca	UTSW	2	26390132	missense	possibly damaging	0.51
R7971:Pmpca	UTSW	2	26393152	missense	probably damaging	1.00
R8461:Pmpca	UTSW	2	26395034	missense	possibly damaging	0.91
R8558:Pmpca	UTSW	2	26395034	missense	possibly damaging	0.91
R8674:Pmpca	UTSW	2	26395034	missense	possibly damaging	0.91
R8717:Pmpca	UTSW	2	26391881	missense	probably damaging	1.00
R8737:Pmpca	UTSW	2	26393519	missense	probably damaging	1.00
R9042:Pmpca	UTSW	2	26393569	missense	probably benign	0.00
R9181:Pmpca	UTSW	2	26393353	missense	probably damaging	1.00
R9600:Pmpca	UTSW	2	26392586	missense	probably benign	0.03
R9621:Pmpca	UTSW	2	26389976	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGACATGTGTTTCTGTCCC -3'
(R):5'- GCATCAGGGCAGTCTCAAATG -3'

Sequencing Primer
(F):5'- GAAGGCTTTTCCAATGTAGTTCC -3'
(R):5'- GGGCAGTCTCAAATGATCCC -3'

Posted On

2021-03-08