Incidental Mutation 'R4580:Pmpca'
| ID |
343558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmpca
|
| Ensembl Gene |
ENSMUSG00000026926 |
| Gene Name |
peptidase (mitochondrial processing) alpha |
| Synonyms |
4933435E07Rik, INPP5E, Alpha-MPP |
| MMRRC Submission |
041599-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R4580 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26279351-26287134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 26283347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 382
(S382I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075762
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028293]
[ENSMUST00000076431]
[ENSMUST00000077983]
[ENSMUST00000114090]
[ENSMUST00000114093]
[ENSMUST00000114100]
[ENSMUST00000114102]
[ENSMUST00000145701]
[ENSMUST00000139738]
|
| AlphaFold |
Q9DC61 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028291
|
| 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: S382I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
AA Change: S382I
| 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: 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 damaging
Transcript: ENSMUST00000114093
AA Change: S382I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109727
Gene: ENSMUSG00000026926
AA Change: S382I
| 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 |
noncoding transcript
Transcript: ENSMUST00000140115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135155
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130954
|
| 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: 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: 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: ENSMUST00000139738
|
| SMART Domains |
Protein: ENSMUSP00000121256
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150375
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
C |
11: 69,791,237 (GRCm39) |
Y114C |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,799,558 (GRCm39) |
S556P |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,269 (GRCm39) |
N91D |
probably benign |
Het |
| BC005537 |
G |
T |
13: 24,987,394 (GRCm39) |
A11S |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,084,174 (GRCm39) |
T3864S |
probably benign |
Het |
| Bub1 |
A |
C |
2: 127,671,596 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
C |
10: 41,437,136 (GRCm39) |
T1758A |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,591,897 (GRCm39) |
L594P |
probably damaging |
Het |
| Cobll1 |
C |
T |
2: 64,981,417 (GRCm39) |
V90I |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,271,875 (GRCm39) |
V463A |
probably benign |
Het |
| Cpeb4 |
T |
A |
11: 31,877,757 (GRCm39) |
|
probably null |
Het |
| Creb5 |
G |
A |
6: 53,581,519 (GRCm39) |
M172I |
possibly damaging |
Het |
| Cyp4a32 |
T |
C |
4: 115,460,126 (GRCm39) |
|
silent |
Het |
| Dnah8 |
T |
A |
17: 30,881,026 (GRCm39) |
S588T |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,840,751 (GRCm39) |
Y669C |
probably damaging |
Het |
| Esd |
T |
C |
14: 74,979,517 (GRCm39) |
V120A |
possibly damaging |
Het |
| Fbxo5 |
T |
C |
10: 5,755,255 (GRCm39) |
|
probably null |
Het |
| Gm4922 |
T |
C |
10: 18,659,432 (GRCm39) |
D430G |
probably benign |
Het |
| Golga4 |
C |
A |
9: 118,386,327 (GRCm39) |
Q1150K |
probably benign |
Het |
| Grb14 |
T |
C |
2: 64,783,947 (GRCm39) |
N60S |
probably benign |
Het |
| Grk4 |
A |
G |
5: 34,818,325 (GRCm39) |
N2S |
probably damaging |
Het |
| Henmt1 |
T |
A |
3: 108,850,081 (GRCm39) |
S21R |
probably benign |
Het |
| Ifngr2 |
A |
G |
16: 91,354,906 (GRCm39) |
K113E |
probably benign |
Het |
| Ighv15-2 |
T |
A |
12: 114,528,590 (GRCm39) |
T15S |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,395,287 (GRCm39) |
S529P |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,200,957 (GRCm39) |
N51S |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,599 (GRCm39) |
E773G |
possibly damaging |
Het |
| Lrfn3 |
A |
T |
7: 30,059,467 (GRCm39) |
C253S |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,517,832 (GRCm39) |
V130A |
possibly damaging |
Het |
| Marchf11 |
A |
T |
15: 26,311,189 (GRCm39) |
I222F |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,873,766 (GRCm39) |
Y1699* |
probably null |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,979,529 (GRCm39) |
V160E |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,885,388 (GRCm39) |
S88P |
possibly damaging |
Het |
| Myl2 |
A |
T |
5: 122,244,801 (GRCm39) |
H157L |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,767,779 (GRCm39) |
N284S |
probably damaging |
Het |
| Nphp1 |
A |
G |
2: 127,610,089 (GRCm39) |
|
probably null |
Het |
| Nrcam |
T |
C |
12: 44,609,323 (GRCm39) |
|
probably null |
Het |
| Nt5c3b |
G |
T |
11: 100,323,885 (GRCm39) |
F134L |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,001,544 (GRCm39) |
Q4L |
probably benign |
Het |
| Otog |
A |
G |
7: 45,937,225 (GRCm39) |
R1645G |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,249,830 (GRCm39) |
I523M |
probably benign |
Het |
| Pcdhb7 |
T |
A |
18: 37,475,188 (GRCm39) |
L108Q |
probably damaging |
Het |
| Pdp2 |
C |
A |
8: 105,321,576 (GRCm39) |
T475K |
probably damaging |
Het |
| Pgbd1 |
G |
C |
13: 21,612,499 (GRCm39) |
P113A |
probably benign |
Het |
| Plk5 |
C |
T |
10: 80,196,301 (GRCm39) |
H291Y |
possibly damaging |
Het |
| Prl3b1 |
A |
G |
13: 27,433,450 (GRCm39) |
T202A |
possibly damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,979,845 (GRCm39) |
T317S |
possibly damaging |
Het |
| Ptprc |
C |
T |
1: 137,998,989 (GRCm39) |
M1020I |
probably benign |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,471 (GRCm39) |
Y393H |
probably damaging |
Het |
| Sema3e |
T |
C |
5: 14,283,717 (GRCm39) |
L482P |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,403,311 (GRCm39) |
T1984I |
probably benign |
Het |
| Slc17a1 |
T |
C |
13: 24,071,960 (GRCm39) |
Y393H |
probably damaging |
Het |
| Slc9a3 |
C |
T |
13: 74,307,005 (GRCm39) |
R377* |
probably null |
Het |
| Slitrk3 |
A |
G |
3: 72,958,539 (GRCm39) |
S78P |
probably damaging |
Het |
| Smim35 |
G |
T |
9: 45,155,426 (GRCm39) |
|
probably null |
Het |
| Specc1 |
T |
A |
11: 62,110,157 (GRCm39) |
V1054E |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,696,219 (GRCm39) |
T847A |
probably benign |
Het |
| Tcf7l2 |
G |
A |
19: 55,907,468 (GRCm39) |
G343R |
probably damaging |
Het |
| Tex36 |
A |
C |
7: 133,189,111 (GRCm39) |
Y154D |
possibly damaging |
Het |
| Topaz1 |
T |
A |
9: 122,576,580 (GRCm39) |
M57K |
probably null |
Het |
| Trav6-4 |
T |
C |
14: 53,692,156 (GRCm39) |
Y85H |
probably damaging |
Het |
| Trim30d |
A |
G |
7: 104,121,765 (GRCm39) |
Y327H |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,781,740 (GRCm39) |
V1056A |
probably benign |
Het |
| Usp32 |
C |
A |
11: 84,949,953 (GRCm39) |
|
probably null |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,136 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,799,982 (GRCm39) |
T787A |
possibly damaging |
Het |
| Vps39 |
A |
T |
2: 120,169,814 (GRCm39) |
I246N |
probably benign |
Het |
| Xab2 |
T |
C |
8: 3,660,162 (GRCm39) |
D855G |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,991,265 (GRCm39) |
C758S |
possibly damaging |
Het |
| Zfp62 |
A |
G |
11: 49,107,099 (GRCm39) |
I397V |
possibly damaging |
Het |
| Zscan4d |
A |
G |
7: 10,896,435 (GRCm39) |
S312P |
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 |
|
|
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'- GCAAAGGCATGTTCTCCAGG -3'
(R):5'- TGCCCATCAAGATAAACTCCTTTG -3'
Sequencing Primer
(F):5'- GGCTCTACCTCAATGTGCTCAATC -3'
(R):5'- GTGATGATTTCTACCATTTCTCGAAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation