Incidental Mutation 'R8717:Pmpca'
ID |
669930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pmpca
|
Ensembl Gene |
ENSMUSG00000026926 |
Gene Name |
peptidase (mitochondrial processing) alpha |
Synonyms |
4933435E07Rik, INPP5E, Alpha-MPP |
MMRRC Submission |
068570-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R8717 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26279351-26287134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 26281893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 182
(M182K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075762
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028293]
[ENSMUST00000076431]
[ENSMUST00000077983]
[ENSMUST00000114093]
[ENSMUST00000114100]
[ENSMUST00000114102]
[ENSMUST00000139738]
[ENSMUST00000145701]
|
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: M182K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075762 Gene: ENSMUSG00000026926 AA Change: M182K
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: ENSMUST00000114093
AA Change: M182K
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000109727 Gene: ENSMUSG00000026926 AA Change: M182K
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 |
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: 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: 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 |
|
Meta Mutation Damage Score |
0.0995 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (60/60) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
G |
6: 128,543,958 (GRCm39) |
F528L |
probably benign |
Het |
Aadacl3 |
T |
G |
4: 144,182,778 (GRCm39) |
D230A |
probably damaging |
Het |
Adgrf3 |
T |
A |
5: 30,403,579 (GRCm39) |
|
probably benign |
Het |
Agtr1a |
A |
C |
13: 30,565,357 (GRCm39) |
T141P |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,621,300 (GRCm39) |
D195E |
probably benign |
Het |
AY074887 |
G |
A |
9: 54,857,786 (GRCm39) |
T113I |
probably damaging |
Het |
Cacna1c |
G |
A |
6: 119,034,314 (GRCm39) |
A71V |
|
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Cntrl |
T |
A |
2: 35,003,351 (GRCm39) |
V78E |
probably benign |
Het |
Cyp2c67 |
T |
A |
19: 39,627,155 (GRCm39) |
Y225F |
probably benign |
Het |
Cyp2j13 |
T |
A |
4: 95,933,777 (GRCm39) |
H369L |
probably benign |
Het |
Dagla |
T |
C |
19: 10,225,587 (GRCm39) |
E859G |
probably benign |
Het |
Duox1 |
C |
A |
2: 122,168,152 (GRCm39) |
S1092R |
possibly damaging |
Het |
Elfn2 |
C |
A |
15: 78,556,561 (GRCm39) |
S662I |
probably benign |
Het |
Epor |
A |
T |
9: 21,870,741 (GRCm39) |
C380S |
probably benign |
Het |
Fsd2 |
T |
C |
7: 81,190,090 (GRCm39) |
E564G |
probably benign |
Het |
Hace1 |
C |
T |
10: 45,481,694 (GRCm39) |
T117I |
unknown |
Het |
Ift172 |
A |
G |
5: 31,412,985 (GRCm39) |
M1488T |
probably benign |
Het |
Insyn1 |
A |
G |
9: 58,406,623 (GRCm39) |
T178A |
probably damaging |
Het |
Kdm3b |
A |
G |
18: 34,952,840 (GRCm39) |
E1070G |
probably damaging |
Het |
Lrp6 |
A |
G |
6: 134,434,711 (GRCm39) |
F1331L |
probably benign |
Het |
Lrrc74a |
G |
A |
12: 86,783,253 (GRCm39) |
E33K |
probably damaging |
Het |
Magel2 |
T |
C |
7: 62,027,420 (GRCm39) |
M108T |
unknown |
Het |
Mief1 |
T |
C |
15: 80,132,584 (GRCm39) |
S127P |
probably benign |
Het |
Mprip |
T |
C |
11: 59,650,526 (GRCm39) |
V1410A |
probably benign |
Het |
Muc1 |
G |
A |
3: 89,138,821 (GRCm39) |
V477M |
possibly damaging |
Het |
Nat8f3 |
A |
T |
6: 85,738,687 (GRCm39) |
M25K |
possibly damaging |
Het |
Neb |
T |
G |
2: 52,073,781 (GRCm39) |
H5942P |
probably damaging |
Het |
Nf2 |
A |
T |
11: 4,766,099 (GRCm39) |
Y144N |
probably damaging |
Het |
Nipbl |
T |
A |
15: 8,368,225 (GRCm39) |
M1166L |
probably benign |
Het |
Npnt |
A |
T |
3: 132,614,136 (GRCm39) |
L206Q |
probably damaging |
Het |
Or10ak13 |
T |
C |
4: 118,638,996 (GRCm39) |
Y262C |
probably damaging |
Het |
Or4g7 |
A |
G |
2: 111,309,992 (GRCm39) |
T288A |
probably damaging |
Het |
Or6c65 |
T |
A |
10: 129,604,127 (GRCm39) |
I254N |
probably damaging |
Het |
Parg |
A |
G |
14: 31,932,492 (GRCm39) |
K444R |
probably benign |
Het |
Pcbp4 |
A |
T |
9: 106,337,202 (GRCm39) |
|
probably null |
Het |
Pcdhgb4 |
A |
G |
18: 37,853,847 (GRCm39) |
S81G |
probably benign |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Plekho2 |
T |
C |
9: 65,464,058 (GRCm39) |
N264D |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,252,695 (GRCm39) |
H476R |
probably benign |
Het |
Prxl2a |
G |
A |
14: 40,720,836 (GRCm39) |
P126S |
possibly damaging |
Het |
Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
Rbp3 |
G |
A |
14: 33,678,395 (GRCm39) |
R781H |
probably damaging |
Het |
Rngtt |
T |
A |
4: 33,368,695 (GRCm39) |
S409R |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,751,753 (GRCm39) |
R3680L |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,512,618 (GRCm39) |
S1384G |
possibly damaging |
Het |
Shmt1 |
T |
C |
11: 60,685,763 (GRCm39) |
D271G |
probably benign |
Het |
Sin3a |
C |
T |
9: 57,034,510 (GRCm39) |
R1228W |
probably damaging |
Het |
Slc25a39 |
T |
C |
11: 102,294,620 (GRCm39) |
R294G |
probably benign |
Het |
Smcr8 |
T |
A |
11: 60,670,254 (GRCm39) |
S467R |
probably damaging |
Het |
Spaca7 |
A |
G |
8: 12,636,480 (GRCm39) |
Y102C |
probably damaging |
Het |
Tacr1 |
A |
G |
6: 82,380,706 (GRCm39) |
Y39C |
probably damaging |
Het |
Tenm3 |
G |
A |
8: 48,752,680 (GRCm39) |
S894L |
possibly damaging |
Het |
Tmem115 |
T |
A |
9: 107,415,132 (GRCm39) |
M307K |
possibly damaging |
Het |
Tnn |
A |
G |
1: 159,943,846 (GRCm39) |
V989A |
possibly damaging |
Het |
Trabd2b |
T |
A |
4: 114,460,186 (GRCm39) |
N441K |
probably damaging |
Het |
Ttll1 |
T |
C |
15: 83,373,709 (GRCm39) |
K368R |
probably benign |
Het |
Tubgcp2 |
C |
T |
7: 139,576,705 (GRCm39) |
V858I |
probably benign |
Het |
Ufsp2 |
G |
T |
8: 46,436,614 (GRCm39) |
V122L |
probably benign |
Het |
Wdr26 |
A |
G |
1: 181,011,913 (GRCm39) |
C470R |
possibly damaging |
Het |
Xab2 |
T |
C |
8: 3,663,845 (GRCm39) |
H358R |
probably benign |
Het |
Xrcc5 |
A |
G |
1: 72,422,905 (GRCm39) |
I697V |
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 |
R8674:Pmpca
|
UTSW |
2 |
26,285,046 (GRCm39) |
missense |
possibly damaging |
0.91 |
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'- GGGGCCCTAATTTTCATCTGG -3'
(R):5'- CTTAGCACACAGGAAGCCAAGG -3'
Sequencing Primer
(F):5'- GCCTCCTCCCTTGCAGGTG -3'
(R):5'- CAGGGAGGTTATGAATTCAACACC -3'
|
Posted On |
2021-04-30 |