Mutagenetix > Incidental Mutations

Incidental Mutation 'R5161:Pmpca'

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

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R5161 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26389339-26397122 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 26395171 bp (GRCm38)

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

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

noncoding transcript
Transcript: ENSMUST00000134871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139535

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150907

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,001	E27*	probably null	Het
1700061G19Rik	A	T	17: 56,882,888	I305F	possibly damaging	Het
3110035E14Rik	G	T	1: 9,622,677	G145*	probably null	Het
4930407I10Rik	G	T	15: 82,063,341	E480*	probably null	Het
Acad11	T	C	9: 104,124,028	I591T	probably benign	Het
Adamts13	G	A	2: 26,993,008	E857K	probably benign	Het
Apopt1	C	A	12: 111,722,774	Q97K	possibly damaging	Het
Atf2	A	C	2: 73,829,790		probably null	Het
Cass4	C	A	2: 172,432,324	A675E	probably damaging	Het
Ctsd	A	T	7: 142,377,144	L283Q	probably damaging	Het
Ddrgk1	A	T	2: 130,663,376	M1K	probably null	Het
Dock1	G	A	7: 134,734,062	A62T	possibly damaging	Het
Ehmt1	T	C	2: 24,858,195	D407G	possibly damaging	Het
Eml6	A	G	11: 30,024,467	V37A	probably damaging	Het
Fam20a	C	T	11: 109,673,370	R519Q	probably benign	Het
Fam69b	C	T	2: 26,636,248	T398M	possibly damaging	Het
Fat1	A	G	8: 44,952,512	T767A	probably benign	Het
Fbxl8	A	T	8: 105,268,906	H350L	possibly damaging	Het
Gm10226	A	C	17: 21,691,927	Q23P	possibly damaging	Het
Gm17677	T	A	9: 35,741,588	L42*	probably null	Het
Gm2075	T	A	12: 88,012,117	D90E	possibly damaging	Het
Gm21994	A	T	2: 150,255,215	I98K	probably damaging	Het
Gm38706	A	T	6: 130,482,905		noncoding transcript	Het
Gpatch2l	G	T	12: 86,267,176	R362L	probably benign	Het
H2afy	T	C	13: 56,089,781	D222G	probably benign	Het
Hyal5	A	T	6: 24,891,603	D472V	probably benign	Het
Ighv5-9-1	T	C	12: 113,736,157	S102G	possibly damaging	Het
Itpripl1	A	C	2: 127,141,857	L115R	probably damaging	Het
Itsn1	G	A	16: 91,908,838	C169Y	possibly damaging	Het
Krt88	T	A	15: 101,450,468	C12S	probably benign	Het
Muc4	G	A	16: 32,762,521	V2557M	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Nbeal2	G	T	9: 110,629,868	Q1996K	probably benign	Het
Obscn	T	C	11: 59,028,604	E6205G	probably damaging	Het
Obscn	A	G	11: 59,064,310	Y3926H	possibly damaging	Het
Olfr1436	A	T	19: 12,298,789	S114R	probably damaging	Het
Olfr305	T	C	7: 86,364,338		probably null	Het
P2ry2	A	T	7: 100,998,929	Y56*	probably null	Het
Pde1a	T	C	2: 79,878,144	N242S	probably null	Het
Pik3cg	C	T	12: 32,204,978	E337K	possibly damaging	Het
Plxna2	A	G	1: 194,751,404	N587S	probably benign	Het
Ptpn4	C	T	1: 119,707,863	W370*	probably null	Het
Qk	A	T	17: 10,215,490		probably null	Het
Rapgef3	A	G	15: 97,757,725	V427A	probably damaging	Het
Rbbp8	T	G	18: 11,722,114	D465E	probably damaging	Het
Scn2a	A	G	2: 65,764,591	K1928R	probably benign	Het
Slc5a5	A	C	8: 70,888,848	C346G	probably damaging	Het
Spata2l	A	G	8: 123,235,549	L91P	probably damaging	Het
Syt3	C	A	7: 44,396,015	H560N	possibly damaging	Het
Timm23	G	A	14: 32,193,925	P63L	probably damaging	Het
Tmem191c	T	C	16: 17,276,879	S108P	possibly damaging	Het
Ttc21b	A	G	2: 66,229,023	C545R	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Usp17ld	A	T	7: 103,250,372	L451*	probably null	Het
Vmn1r15	T	C	6: 57,258,512	Y122H	probably benign	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
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
R8671: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

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