Incidental Mutation 'R5161:Pmpca'
ID |
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 |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R5161 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26279351-26287134 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 26285183 bp (GRCm39)
|
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: ENSMUST00000146061
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135155
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150907
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137686
|
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: 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: 64,055,344 (GRCm39) |
E27* |
probably null |
Het |
4930407I10Rik |
G |
T |
15: 81,947,542 (GRCm39) |
E480* |
probably null |
Het |
Acad11 |
T |
C |
9: 104,001,227 (GRCm39) |
I591T |
probably benign |
Het |
Acsbg3 |
A |
T |
17: 57,189,888 (GRCm39) |
I305F |
possibly damaging |
Het |
Adamts13 |
G |
A |
2: 26,883,020 (GRCm39) |
E857K |
probably benign |
Het |
Atf2 |
A |
C |
2: 73,660,134 (GRCm39) |
|
probably null |
Het |
Cass4 |
C |
A |
2: 172,274,244 (GRCm39) |
A675E |
probably damaging |
Het |
Coa8 |
C |
A |
12: 111,689,208 (GRCm39) |
Q97K |
possibly damaging |
Het |
Ctsd |
A |
T |
7: 141,930,881 (GRCm39) |
L283Q |
probably damaging |
Het |
Ddrgk1 |
A |
T |
2: 130,505,296 (GRCm39) |
M1K |
probably null |
Het |
Dipk1b |
C |
T |
2: 26,526,260 (GRCm39) |
T398M |
possibly damaging |
Het |
Dock1 |
G |
A |
7: 134,335,791 (GRCm39) |
A62T |
possibly damaging |
Het |
Ehmt1 |
T |
C |
2: 24,748,207 (GRCm39) |
D407G |
possibly damaging |
Het |
Eif1ad17 |
T |
A |
12: 87,978,887 (GRCm39) |
D90E |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,974,467 (GRCm39) |
V37A |
probably damaging |
Het |
Fam20a |
C |
T |
11: 109,564,196 (GRCm39) |
R519Q |
probably benign |
Het |
Fat1 |
A |
G |
8: 45,405,549 (GRCm39) |
T767A |
probably benign |
Het |
Fbxl8 |
A |
T |
8: 105,995,538 (GRCm39) |
H350L |
possibly damaging |
Het |
Gm10226 |
A |
C |
17: 21,910,834 (GRCm39) |
Q23P |
possibly damaging |
Het |
Gm38706 |
A |
T |
6: 130,459,868 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch2l |
G |
T |
12: 86,313,950 (GRCm39) |
R362L |
probably benign |
Het |
Hyal5 |
A |
T |
6: 24,891,602 (GRCm39) |
D472V |
probably benign |
Het |
Ighv5-9-1 |
T |
C |
12: 113,699,777 (GRCm39) |
S102G |
possibly damaging |
Het |
Itpripl1 |
A |
C |
2: 126,983,777 (GRCm39) |
L115R |
probably damaging |
Het |
Itsn1 |
G |
A |
16: 91,705,726 (GRCm39) |
C169Y |
possibly damaging |
Het |
Krt88 |
T |
A |
15: 101,348,349 (GRCm39) |
C12S |
probably benign |
Het |
Macroh2a1 |
T |
C |
13: 56,237,594 (GRCm39) |
D222G |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,582,895 (GRCm39) |
V2557M |
probably damaging |
Het |
Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
Nbeal2 |
G |
T |
9: 110,458,936 (GRCm39) |
Q1996K |
probably benign |
Het |
Obscn |
T |
C |
11: 58,919,430 (GRCm39) |
E6205G |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,955,136 (GRCm39) |
Y3926H |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,013,546 (GRCm39) |
|
probably null |
Het |
Or5an10 |
A |
T |
19: 12,276,153 (GRCm39) |
S114R |
probably damaging |
Het |
P2ry2 |
A |
T |
7: 100,648,136 (GRCm39) |
Y56* |
probably null |
Het |
Pate10 |
T |
A |
9: 35,652,884 (GRCm39) |
L42* |
probably null |
Het |
Pde1a |
T |
C |
2: 79,708,488 (GRCm39) |
N242S |
probably null |
Het |
Pik3cg |
C |
T |
12: 32,254,977 (GRCm39) |
E337K |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,433,712 (GRCm39) |
N587S |
probably benign |
Het |
Ptpn4 |
C |
T |
1: 119,635,593 (GRCm39) |
W370* |
probably null |
Het |
Qki |
A |
T |
17: 10,434,419 (GRCm39) |
|
probably null |
Het |
Rapgef3 |
A |
G |
15: 97,655,606 (GRCm39) |
V427A |
probably damaging |
Het |
Rbbp8 |
T |
G |
18: 11,855,171 (GRCm39) |
D465E |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,594,935 (GRCm39) |
K1928R |
probably benign |
Het |
Slc5a5 |
A |
C |
8: 71,341,492 (GRCm39) |
C346G |
probably damaging |
Het |
Spata2l |
A |
G |
8: 123,962,288 (GRCm39) |
L91P |
probably damaging |
Het |
Syt3 |
C |
A |
7: 44,045,439 (GRCm39) |
H560N |
possibly damaging |
Het |
Timm23 |
G |
A |
14: 31,915,882 (GRCm39) |
P63L |
probably damaging |
Het |
Tmem191 |
T |
C |
16: 17,094,743 (GRCm39) |
S108P |
possibly damaging |
Het |
Ttc21b |
A |
G |
2: 66,059,367 (GRCm39) |
C545R |
probably damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Usp17ld |
A |
T |
7: 102,899,579 (GRCm39) |
L451* |
probably null |
Het |
Vmn1r15 |
T |
C |
6: 57,235,497 (GRCm39) |
Y122H |
probably benign |
Het |
Vxn |
G |
T |
1: 9,692,902 (GRCm39) |
G145* |
probably null |
Het |
Zfp1002 |
A |
T |
2: 150,097,135 (GRCm39) |
I98K |
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 |
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 |
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'- GCACATGGAGATTTCTTTGCTGAG -3'
(R):5'- AGTGACCAGATGCCTCCTTC -3'
Sequencing Primer
(F):5'- TCTTGAGCCAGCTGTCGAG -3'
(R):5'- TTCCCAAGGCTGAGGAGC -3'
|
Posted On |
2016-06-21 |