Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Pmpca'

34385

Institutional Source

Beutler Lab

Gene Symbol

Pmpca

Ensembl Gene

ENSMUSG00000026926

Gene Name

peptidase (mitochondrial processing) alpha

Synonyms

4933435E07Rik, INPP5E, Alpha-MPP

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26389339-26397122 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26395507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 498 (D498E)

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 benign
Transcript: ENSMUST00000076431
AA Change: D498E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
AA Change: D498E

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: 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

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	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
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
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
R9600:Pmpca	UTSW	2	26392586	missense	probably benign	0.03
R9621:Pmpca	UTSW	2	26389976	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTTGAGACTGCCCTGATGCAAAC -3'
(R):5'- AGCCTTATGCAGTGTCTACACCAAC -3'

Sequencing Primer
(F):5'- AGACAGACGGATCTCCTGTTG -3'
(R):5'- GTGTCTACACCAACAGTAACATGC -3'

Posted On

2013-05-09