Incidental Mutation 'R0064:Pmpca'
ID |
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: 0.956)
|
Stock # |
R0064 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26279351-26287134 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 26285519 bp (GRCm39)
|
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 |
noncoding transcript
Transcript: ENSMUST00000150907
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146061
|
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 |
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 |
|
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 |
G |
T |
11: 110,035,698 (GRCm39) |
L641M |
probably damaging |
Het |
Abca9 |
A |
C |
11: 110,035,697 (GRCm39) |
L641R |
probably damaging |
Het |
Abhd18 |
A |
G |
3: 40,888,288 (GRCm39) |
I377M |
probably benign |
Het |
Arhgef17 |
C |
A |
7: 100,530,561 (GRCm39) |
M1408I |
probably benign |
Het |
Bcl2a1a |
G |
C |
9: 88,839,516 (GRCm39) |
G138A |
probably damaging |
Het |
C4b |
A |
G |
17: 34,957,830 (GRCm39) |
L617P |
probably damaging |
Het |
Ccdc25 |
T |
A |
14: 66,091,561 (GRCm39) |
I60K |
possibly damaging |
Het |
Cdk1 |
T |
C |
10: 69,180,907 (GRCm39) |
D101G |
probably benign |
Het |
Cdon |
A |
G |
9: 35,400,523 (GRCm39) |
H1079R |
probably benign |
Het |
Cep126 |
A |
T |
9: 8,130,183 (GRCm39) |
|
probably benign |
Het |
Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Crlf3 |
A |
G |
11: 79,948,728 (GRCm39) |
I239T |
possibly damaging |
Het |
Cstf2t |
T |
A |
19: 31,060,699 (GRCm39) |
N78K |
probably damaging |
Het |
Cul1 |
A |
G |
6: 47,479,349 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
T |
G |
2: 104,079,502 (GRCm39) |
T1194P |
probably damaging |
Het |
Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
Fbxw14 |
A |
T |
9: 109,116,660 (GRCm39) |
Y16* |
probably null |
Het |
Fgd3 |
T |
G |
13: 49,449,901 (GRCm39) |
D116A |
possibly damaging |
Het |
Gm7168 |
C |
T |
17: 14,170,121 (GRCm39) |
T496I |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Klhl5 |
T |
A |
5: 65,298,631 (GRCm39) |
S137T |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,906,724 (GRCm39) |
N1604K |
probably benign |
Het |
Lpcat1 |
T |
A |
13: 73,662,585 (GRCm39) |
N463K |
probably damaging |
Het |
Lpl |
A |
G |
8: 69,345,356 (GRCm39) |
H120R |
probably damaging |
Het |
Man1a2 |
A |
T |
3: 100,499,199 (GRCm39) |
S412T |
possibly damaging |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Myo18a |
G |
T |
11: 77,738,170 (GRCm39) |
R1704L |
probably damaging |
Het |
Nlrc3 |
G |
T |
16: 3,781,951 (GRCm39) |
T486K |
possibly damaging |
Het |
Nrip1 |
T |
A |
16: 76,091,558 (GRCm39) |
|
probably benign |
Het |
Nutf2 |
A |
G |
8: 106,605,441 (GRCm39) |
D92G |
probably damaging |
Het |
Obscn |
A |
C |
11: 58,918,292 (GRCm39) |
V6260G |
probably damaging |
Het |
Or10a2 |
T |
C |
7: 106,673,487 (GRCm39) |
F151L |
probably benign |
Het |
Or2ak7 |
G |
A |
11: 58,575,301 (GRCm39) |
V201M |
probably benign |
Het |
Plce1 |
T |
C |
19: 38,769,228 (GRCm39) |
|
probably null |
Het |
Pnpla7 |
G |
T |
2: 24,887,239 (GRCm39) |
E28* |
probably null |
Het |
Polg |
C |
A |
7: 79,111,632 (GRCm39) |
W206C |
probably damaging |
Het |
Ptprt |
C |
T |
2: 161,769,711 (GRCm39) |
|
probably benign |
Het |
Slc7a14 |
T |
C |
3: 31,281,209 (GRCm39) |
D367G |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,069,912 (GRCm39) |
Y687H |
probably damaging |
Het |
Sybu |
T |
A |
15: 44,536,389 (GRCm39) |
T646S |
probably benign |
Het |
Thbs1 |
A |
T |
2: 117,954,395 (GRCm39) |
|
probably null |
Het |
Tie1 |
A |
G |
4: 118,346,898 (GRCm39) |
V2A |
possibly damaging |
Het |
Tma16 |
A |
T |
8: 66,929,457 (GRCm39) |
I179K |
possibly damaging |
Het |
Tns3 |
G |
A |
11: 8,385,856 (GRCm39) |
Q1381* |
probably null |
Het |
Trank1 |
A |
G |
9: 111,172,263 (GRCm39) |
D84G |
probably damaging |
Het |
Ttc3 |
A |
T |
16: 94,223,106 (GRCm39) |
H197L |
possibly damaging |
Het |
Urb1 |
A |
G |
16: 90,576,028 (GRCm39) |
F843L |
probably benign |
Het |
Vmn1r24 |
T |
G |
6: 57,933,003 (GRCm39) |
I172L |
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 64,012,209 (GRCm39) |
I690N |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,791,053 (GRCm39) |
I82L |
probably benign |
Het |
Zfp287 |
A |
T |
11: 62,605,764 (GRCm39) |
L370H |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,888 (GRCm39) |
I684N |
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 |
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 |
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'- CATTTGAGACTGCCCTGATGCAAAC -3'
(R):5'- AGCCTTATGCAGTGTCTACACCAAC -3'
Sequencing Primer
(F):5'- AGACAGACGGATCTCCTGTTG -3'
(R):5'- GTGTCTACACCAACAGTAACATGC -3'
|
Posted On |
2013-05-09 |