Mutagenetix > Incidental Mutation

Incidental Mutation 'R0864:Pmpca'

82238

Institutional Source

Beutler Lab

Gene Symbol

Pmpca

Ensembl Gene

ENSMUSG00000026926

Gene Name

peptidase (mitochondrial processing) alpha

Synonyms

4933435E07Rik, INPP5E, Alpha-MPP

MMRRC Submission

039038-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0864 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26279351-26287134 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 26283221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028293] [ENSMUST00000076431] [ENSMUST00000077983] [ENSMUST00000114090] [ENSMUST00000114093] [ENSMUST00000114100] [ENSMUST00000145701] [ENSMUST00000114102] [ENSMUST00000139738]

AlphaFold

Q9DC61

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028291

Predicted Effect

probably benign
Transcript: ENSMUST00000028293

SMART Domains

Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	209	321	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000076431

SMART Domains

Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926

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: ENSMUST00000077983

SMART Domains

Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	186	298	N/A	INTRINSIC

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 null
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: ENSMUST00000114100

SMART Domains

Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	236	348	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139535

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114102

SMART Domains

Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	259	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139738

SMART Domains

Protein: ENSMUSP00000121256
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000150375

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 97.3%
20x: 93.8%

Validation Efficiency

93% (39/42)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,784,798 (GRCm39)		probably benign	Het
Alx4	A	G	2: 93,473,200 (GRCm39)	Y66C	probably damaging	Het
Apol7e	T	A	15: 77,601,993 (GRCm39)	V197E	probably damaging	Het
Chac1	C	A	2: 119,183,950 (GRCm39)	A184E	probably damaging	Het
Clmn	G	A	12: 104,756,274 (GRCm39)	T192I	possibly damaging	Het
Csmd1	T	A	8: 16,240,040 (GRCm39)	Y1124F	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
D430041D05Rik	G	A	2: 104,060,773 (GRCm39)	P1374S	possibly damaging	Het
Dyrk4	T	C	6: 126,854,296 (GRCm39)	E499G	possibly damaging	Het
Fat1	T	A	8: 45,471,074 (GRCm39)	I1603N	probably damaging	Het
Fbn1	A	T	2: 125,184,811 (GRCm39)	C1660*	probably null	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Hpn	T	C	7: 30,808,426 (GRCm39)	I41V	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Map4	A	G	9: 109,808,037 (GRCm39)	Y34C	probably damaging	Het
Mapk8	C	T	14: 33,114,949 (GRCm39)	R189H	probably damaging	Het
Mprip	T	C	11: 59,649,587 (GRCm39)	V1097A	probably benign	Het
Msh2	A	G	17: 87,987,480 (GRCm39)	T207A	probably benign	Het
Muc4	A	G	16: 32,570,820 (GRCm39)	S627G	probably benign	Het
Nbeal2	G	A	9: 110,457,263 (GRCm39)	T2266I	probably damaging	Het
Pdcd6ip	A	T	9: 113,503,578 (GRCm39)		probably benign	Het
Pdk2	A	G	11: 94,918,759 (GRCm39)	Y339H	probably damaging	Het
Piwil2	T	C	14: 70,632,823 (GRCm39)	D583G	probably benign	Het
Plin4	T	A	17: 56,410,966 (GRCm39)	M1022L	probably benign	Het
Rbbp4	G	T	4: 129,214,344 (GRCm39)		probably benign	Het
Rbbp8	G	A	18: 11,865,241 (GRCm39)		probably benign	Het
Rbms3	A	T	9: 117,458,860 (GRCm39)		probably benign	Het
Snx14	A	T	9: 88,266,049 (GRCm39)	S726T	possibly damaging	Het
Supt4a	T	A	11: 87,633,913 (GRCm39)	S88T	probably benign	Het
Tmem245	G	T	4: 56,890,837 (GRCm39)	H321Q	probably damaging	Het
Trim43c	A	T	9: 88,725,087 (GRCm39)	H202L	probably benign	Het
Trip12	A	G	1: 84,721,730 (GRCm39)	F1334S	probably damaging	Het
Vmn1r36	T	C	6: 66,693,840 (GRCm39)	T12A	probably null	Het
Ywhae	T	G	11: 75,650,256 (GRCm39)		probably null	Het
Zc3h4	T	A	7: 16,154,104 (GRCm39)	S131T	probably damaging	Het
Zfp280b	C	T	10: 75,874,139 (GRCm39)	T6M	probably benign	Het

Other mutations in Pmpca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTGACACTGACTGGTATGGTTCTGC -3'
(R):5'- TTCAGCCGAGTGACTTGCTACATC -3'

Sequencing Primer
(F):5'- TTCTGCATTCCATAGGAGGAC -3'
(R):5'- AGTGACTTGCTACATCAGGTGC -3'

Posted On

2013-11-08