Incidental Mutation 'R8674:Pmpca'
ID |
661289 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pmpca
|
Ensembl Gene |
ENSMUSG00000026926 |
Gene Name |
peptidase (mitochondrial processing) alpha |
Synonyms |
4933435E07Rik, INPP5E, Alpha-MPP |
MMRRC Submission |
068529-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R8674 (G1)
|
Quality Score |
225.009 |
Status
|
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
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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (38/38) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
T |
C |
12: 72,956,696 (GRCm39) |
I165V |
probably benign |
Het |
Adgrg1 |
A |
T |
8: 95,727,526 (GRCm39) |
|
probably benign |
Het |
Ahnak |
T |
C |
19: 8,983,360 (GRCm39) |
I1548T |
probably damaging |
Het |
Alox12b |
A |
G |
11: 69,054,801 (GRCm39) |
Y268C |
possibly damaging |
Het |
Chd8 |
T |
C |
14: 52,450,463 (GRCm39) |
D1465G |
probably damaging |
Het |
Csgalnact1 |
A |
G |
8: 68,826,268 (GRCm39) |
V350A |
possibly damaging |
Het |
Cyp4a29 |
A |
T |
4: 115,106,882 (GRCm39) |
I180F |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,740,896 (GRCm39) |
D1294E |
probably damaging |
Het |
Defb47 |
T |
C |
14: 63,235,579 (GRCm39) |
L10P |
possibly damaging |
Het |
Gpr179 |
T |
C |
11: 97,225,873 (GRCm39) |
E2094G |
probably benign |
Het |
Gtse1 |
C |
A |
15: 85,746,376 (GRCm39) |
P64Q |
probably damaging |
Het |
Gys2 |
A |
G |
6: 142,376,048 (GRCm39) |
V538A |
probably benign |
Het |
Hmgxb3 |
G |
A |
18: 61,269,303 (GRCm39) |
S993L |
probably benign |
Het |
Lgals8 |
A |
T |
13: 12,462,117 (GRCm39) |
F238I |
probably damaging |
Het |
Ltn1 |
A |
C |
16: 87,195,673 (GRCm39) |
D1284E |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,705,257 (GRCm39) |
E1925G |
probably damaging |
Het |
Nck1 |
T |
C |
9: 100,390,580 (GRCm39) |
N43S |
probably damaging |
Het |
Nsun5 |
C |
A |
5: 135,400,394 (GRCm39) |
T145N |
probably damaging |
Het |
Or10d1 |
T |
C |
9: 39,484,249 (GRCm39) |
Y102C |
probably damaging |
Het |
Or10d3 |
A |
G |
9: 39,461,675 (GRCm39) |
F164S |
probably damaging |
Het |
Or10x4 |
A |
G |
1: 174,219,258 (GRCm39) |
T208A |
probably damaging |
Het |
Or4c103 |
T |
A |
2: 88,513,774 (GRCm39) |
T101S |
probably benign |
Het |
Ppp4r4 |
A |
G |
12: 103,562,720 (GRCm39) |
E563G |
probably damaging |
Het |
Pramel42 |
T |
C |
5: 94,685,605 (GRCm39) |
C422R |
probably damaging |
Het |
Rab11fip5 |
T |
A |
6: 85,318,910 (GRCm39) |
M660L |
probably benign |
Het |
Rbm47 |
T |
A |
5: 66,176,742 (GRCm39) |
N527I |
possibly damaging |
Het |
Rpl12 |
T |
A |
2: 32,852,122 (GRCm39) |
|
probably benign |
Het |
Slc22a14 |
C |
A |
9: 119,007,467 (GRCm39) |
W314L |
probably null |
Het |
Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
Sphkap |
A |
G |
1: 83,255,565 (GRCm39) |
V728A |
probably benign |
Het |
Spint4 |
T |
A |
2: 164,542,902 (GRCm39) |
|
probably null |
Het |
Sptbn1 |
A |
G |
11: 30,089,352 (GRCm39) |
S637P |
possibly damaging |
Het |
Trpm7 |
T |
C |
2: 126,641,086 (GRCm39) |
|
probably benign |
Het |
Trrap |
C |
T |
5: 144,727,842 (GRCm39) |
T521I |
probably benign |
Het |
Vmn2r44 |
T |
C |
7: 8,380,822 (GRCm39) |
Y357C |
probably damaging |
Het |
Vwa2 |
A |
G |
19: 56,875,427 (GRCm39) |
D82G |
possibly damaging |
Het |
Zdhhc17 |
A |
G |
10: 110,785,540 (GRCm39) |
I424T |
probably benign |
Het |
Zmiz1 |
A |
G |
14: 25,647,410 (GRCm39) |
I409M |
probably benign |
Het |
Zscan18 |
T |
C |
7: 12,504,827 (GRCm39) |
|
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 |
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 |
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 |
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'- TGGACATGTGTTTCTGTCCC -3'
(R):5'- GCATCAGGGCAGTCTCAAATG -3'
Sequencing Primer
(F):5'- GAAGGCTTTTCCAATGTAGTTCC -3'
(R):5'- GGGCAGTCTCAAATGATCCC -3'
|
Posted On |
2021-03-08 |