Incidental Mutation 'R5570:Pmpca'
ID |
435590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pmpca
|
Ensembl Gene |
ENSMUSG00000026926 |
Gene Name |
peptidase (mitochondrial processing) alpha |
Synonyms |
4933435E07Rik, INPP5E, Alpha-MPP |
MMRRC Submission |
043127-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R5570 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26279351-26287134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26280553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 133
(E133G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028293]
[ENSMUST00000076431]
[ENSMUST00000077983]
[ENSMUST00000114093]
[ENSMUST00000114100]
[ENSMUST00000114102]
[ENSMUST00000139738]
|
AlphaFold |
Q9DC61 |
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 damaging
Transcript: ENSMUST00000076431
AA Change: E133G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075762 Gene: ENSMUSG00000026926 AA Change: E133G
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 damaging
Transcript: ENSMUST00000114093
AA Change: E133G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109727 Gene: ENSMUSG00000026926 AA Change: E133G
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000125518
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134871
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133737
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152375
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136972
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132574
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150375
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140074
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130954
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135155
|
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.5%
|
Validation Efficiency |
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acrv1 |
C |
A |
9: 36,605,577 (GRCm39) |
S41R |
probably damaging |
Het |
Aqr |
G |
A |
2: 113,979,451 (GRCm39) |
T328M |
probably damaging |
Het |
Arhgap26 |
C |
A |
18: 39,232,671 (GRCm39) |
D99E |
probably damaging |
Het |
Boc |
G |
A |
16: 44,313,187 (GRCm39) |
T559I |
probably damaging |
Het |
Cadps |
A |
T |
14: 12,473,497 (GRCm38) |
I876N |
possibly damaging |
Het |
Cep72 |
T |
C |
13: 74,188,260 (GRCm39) |
Q211R |
probably benign |
Het |
Clmp |
T |
C |
9: 40,683,826 (GRCm39) |
|
probably null |
Het |
Coq6 |
T |
A |
12: 84,415,413 (GRCm39) |
D145E |
probably benign |
Het |
Crym |
T |
C |
7: 119,801,116 (GRCm39) |
E11G |
probably benign |
Het |
Defb36 |
T |
A |
2: 152,454,503 (GRCm39) |
V54E |
probably damaging |
Het |
Dlg5 |
C |
A |
14: 24,242,981 (GRCm39) |
E55* |
probably null |
Het |
Dock2 |
G |
T |
11: 34,618,233 (GRCm39) |
R128S |
probably damaging |
Het |
E330034G19Rik |
A |
G |
14: 24,346,892 (GRCm39) |
K60E |
possibly damaging |
Het |
Eps8l2 |
G |
A |
7: 140,934,920 (GRCm39) |
R76Q |
possibly damaging |
Het |
Espn |
T |
C |
4: 152,208,237 (GRCm39) |
E460G |
probably damaging |
Het |
Fbxl18 |
A |
G |
5: 142,881,022 (GRCm39) |
|
probably benign |
Het |
Fgd5 |
T |
C |
6: 91,965,668 (GRCm39) |
S476P |
probably damaging |
Het |
Gsto1 |
T |
C |
19: 47,846,338 (GRCm39) |
W62R |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Gxylt1 |
A |
G |
15: 93,152,180 (GRCm39) |
|
probably null |
Het |
Hs6st1 |
C |
T |
1: 36,142,719 (GRCm39) |
P218L |
probably benign |
Het |
Kif5c |
A |
G |
2: 49,620,211 (GRCm39) |
D226G |
possibly damaging |
Het |
Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
Lpxn |
T |
A |
19: 12,810,023 (GRCm39) |
M265K |
possibly damaging |
Het |
Map3k9 |
A |
G |
12: 81,778,798 (GRCm39) |
L505P |
possibly damaging |
Het |
Mcm3ap |
C |
T |
10: 76,316,930 (GRCm39) |
R645W |
possibly damaging |
Het |
Msr1 |
T |
C |
8: 40,064,760 (GRCm39) |
I305V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,598,066 (GRCm39) |
E3237G |
possibly damaging |
Het |
Necap1 |
T |
C |
6: 122,858,471 (GRCm39) |
F105L |
probably damaging |
Het |
Nploc4 |
C |
T |
11: 120,275,440 (GRCm39) |
V499M |
probably benign |
Het |
Nup93 |
T |
C |
8: 95,041,298 (GRCm39) |
V812A |
probably damaging |
Het |
Or10ak7 |
T |
A |
4: 118,791,263 (GRCm39) |
I259F |
possibly damaging |
Het |
Or6e1 |
A |
G |
14: 54,519,825 (GRCm39) |
F176L |
probably damaging |
Het |
Or9g3 |
G |
A |
2: 85,589,994 (GRCm39) |
S242F |
probably damaging |
Het |
Parn |
G |
A |
16: 13,483,794 (GRCm39) |
P50L |
probably damaging |
Het |
Pcdhb7 |
T |
C |
18: 37,477,224 (GRCm39) |
C787R |
probably benign |
Het |
Pdk2 |
A |
T |
11: 94,920,826 (GRCm39) |
I175N |
probably damaging |
Het |
Pelo |
T |
C |
13: 115,226,152 (GRCm39) |
I102V |
probably benign |
Het |
Phf12 |
A |
G |
11: 77,908,937 (GRCm39) |
D339G |
possibly damaging |
Het |
Phlpp1 |
A |
T |
1: 106,101,162 (GRCm39) |
I477F |
probably benign |
Het |
Pigt |
T |
A |
2: 164,343,482 (GRCm39) |
Y319* |
probably null |
Het |
Ptgs2 |
A |
G |
1: 149,979,859 (GRCm39) |
I321M |
|
Het |
Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
Qsox2 |
A |
G |
2: 26,115,230 (GRCm39) |
M1T |
probably null |
Het |
Rara |
C |
G |
11: 98,863,478 (GRCm39) |
R382G |
probably damaging |
Het |
Rbbp6 |
A |
G |
7: 122,601,057 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
C |
10: 39,728,071 (GRCm39) |
|
probably null |
Het |
Robo3 |
T |
A |
9: 37,336,571 (GRCm39) |
Y399F |
possibly damaging |
Het |
Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
Skint3 |
A |
G |
4: 112,092,995 (GRCm39) |
M20V |
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,308,504 (GRCm39) |
D276G |
probably benign |
Het |
Sult3a2 |
A |
T |
10: 33,654,268 (GRCm39) |
V128D |
probably damaging |
Het |
Syt3 |
T |
A |
7: 44,040,043 (GRCm39) |
V92E |
possibly damaging |
Het |
Them7 |
A |
G |
2: 105,209,153 (GRCm39) |
T158A |
probably benign |
Het |
Utp14b |
G |
A |
1: 78,643,118 (GRCm39) |
D339N |
probably damaging |
Het |
Vars1 |
T |
C |
17: 35,235,214 (GRCm39) |
F1259L |
probably benign |
Het |
Vmn1r115 |
A |
C |
7: 20,578,555 (GRCm39) |
V119G |
possibly damaging |
Het |
Zc3h12a |
C |
T |
4: 125,014,166 (GRCm39) |
R293H |
probably damaging |
Het |
Zfp638 |
A |
T |
6: 83,956,170 (GRCm39) |
E1592D |
probably damaging |
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 |
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'- AAATTGGCATTTTCGGTCAGTGTC -3'
(R):5'- ATTCTTCCCAGGTAAAGGCC -3'
Sequencing Primer
(F):5'- GCATTTTCGGTCAGTGTCTAATTTG -3'
(R):5'- AGGCCTGGACAATTAAAGGTC -3'
|
Posted On |
2016-10-24 |