Incidental Mutation 'R5658:Pmpcb'
| ID |
443923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pmpcb
|
| Ensembl Gene |
ENSMUSG00000029017 |
| Gene Name |
peptidase (mitochondrial processing) beta |
| Synonyms |
MPP11, 3110004O18Rik, MPPP52 |
| MMRRC Submission |
043172-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5658 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
21942158-21962150 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21943999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 78
(T78A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030882]
[ENSMUST00000149648]
|
| AlphaFold |
Q9CXT8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030882
AA Change: T78A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030882
Gene: ENSMUSG00000029017
AA Change: T78A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M16
|
68 |
215 |
6.1e-59 |
PFAM |
|
Pfam:Peptidase_M16_C
|
220 |
404 |
4.1e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149648
|
| SMART Domains |
Protein: ENSMUSP00000119619
Gene: ENSMUSG00000029017
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
1 |
50 |
2.5e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150861
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruptin exhibit embryonic lethality at E8. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,644 (GRCm39) |
L221P |
probably damaging |
Het |
| Art2b |
A |
G |
7: 101,229,569 (GRCm39) |
V110A |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,319,349 (GRCm39) |
I147V |
possibly damaging |
Het |
| Bcl9l |
G |
T |
9: 44,420,466 (GRCm39) |
G1254W |
probably damaging |
Het |
| Cep68 |
C |
T |
11: 20,191,885 (GRCm39) |
|
probably null |
Het |
| Chst5 |
A |
G |
8: 112,617,422 (GRCm39) |
V66A |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,019,907 (GRCm39) |
T794K |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,789,347 (GRCm39) |
V55A |
probably benign |
Het |
| Gm7535 |
T |
A |
17: 18,131,582 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,326,852 (GRCm39) |
V1471A |
possibly damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,736,423 (GRCm39) |
S145T |
probably benign |
Het |
| Kcnh3 |
C |
T |
15: 99,139,957 (GRCm39) |
P948S |
possibly damaging |
Het |
| Kcnq1 |
G |
A |
7: 142,917,432 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
C |
16: 22,815,770 (GRCm39) |
|
probably null |
Het |
| Krt9 |
A |
G |
11: 100,081,593 (GRCm39) |
I312T |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,697,642 (GRCm39) |
H254L |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,850,069 (GRCm39) |
Y187* |
probably null |
Het |
| Ldc1 |
A |
G |
4: 130,114,234 (GRCm39) |
V61A |
probably benign |
Het |
| Maf1 |
T |
C |
15: 76,237,420 (GRCm39) |
V154A |
possibly damaging |
Het |
| Mlh1 |
A |
G |
9: 111,076,448 (GRCm39) |
V303A |
probably damaging |
Het |
| Mrgprh |
A |
T |
17: 13,096,646 (GRCm39) |
K295N |
possibly damaging |
Het |
| Mtrr |
G |
T |
13: 68,717,034 (GRCm39) |
A393D |
possibly damaging |
Het |
| Myef2l |
C |
T |
3: 10,153,837 (GRCm39) |
S202F |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,353,663 (GRCm39) |
Y963H |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,093 (GRCm39) |
V145A |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,016,188 (GRCm39) |
R1677Q |
probably damaging |
Het |
| Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,790,514 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
A |
5: 34,714,291 (GRCm39) |
I162N |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 119,996,218 (GRCm39) |
A960T |
probably benign |
Het |
| Sntb1 |
C |
T |
15: 55,655,472 (GRCm39) |
C248Y |
probably damaging |
Het |
| Sowahc |
G |
A |
10: 59,059,049 (GRCm39) |
R395H |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,120,869 (GRCm39) |
R416G |
probably benign |
Het |
| Tnfaip6 |
A |
T |
2: 51,941,047 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,105,137 (GRCm39) |
L911P |
possibly damaging |
Het |
| Try5 |
T |
C |
6: 41,289,361 (GRCm39) |
R72G |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,219,838 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pmpcb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01146:Pmpcb
|
APN |
5 |
21,945,476 (GRCm39) |
splice site |
probably benign |
|
|
IGL02123:Pmpcb
|
APN |
5 |
21,948,373 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03271:Pmpcb
|
APN |
5 |
21,943,874 (GRCm39) |
missense |
probably benign |
|
|
PIT4504001:Pmpcb
|
UTSW |
5 |
21,948,388 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4651001:Pmpcb
|
UTSW |
5 |
21,951,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0104:Pmpcb
|
UTSW |
5 |
21,951,036 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Pmpcb
|
UTSW |
5 |
21,947,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Pmpcb
|
UTSW |
5 |
21,953,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0842:Pmpcb
|
UTSW |
5 |
21,953,772 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4868:Pmpcb
|
UTSW |
5 |
21,953,851 (GRCm39) |
nonsense |
probably null |
|
|
R4888:Pmpcb
|
UTSW |
5 |
21,945,660 (GRCm39) |
intron |
probably benign |
|
|
R4970:Pmpcb
|
UTSW |
5 |
21,961,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Pmpcb
|
UTSW |
5 |
21,961,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Pmpcb
|
UTSW |
5 |
21,947,786 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5875:Pmpcb
|
UTSW |
5 |
21,947,944 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6150:Pmpcb
|
UTSW |
5 |
21,942,137 (GRCm39) |
splice site |
probably null |
|
|
R6175:Pmpcb
|
UTSW |
5 |
21,962,031 (GRCm39) |
missense |
probably benign |
|
|
R7201:Pmpcb
|
UTSW |
5 |
21,942,177 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R7450:Pmpcb
|
UTSW |
5 |
21,951,983 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7764:Pmpcb
|
UTSW |
5 |
21,948,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Pmpcb
|
UTSW |
5 |
21,961,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Pmpcb
|
UTSW |
5 |
21,961,832 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9116:Pmpcb
|
UTSW |
5 |
21,961,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Pmpcb
|
UTSW |
5 |
21,944,009 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9390:Pmpcb
|
UTSW |
5 |
21,953,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGGACAGTAATGTTTTCTCTC -3'
(R):5'- TGCCGACTAAAGACTGTAGCAG -3'
Sequencing Primer
(F):5'- AGGACAGTAATGTTTTCTCTCTTTCC -3'
(R):5'- TAAAGACTGTAGCAGCCAGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation