Incidental Mutation 'IGL02070:Ppa2'
| ID |
185769 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppa2
|
| Ensembl Gene |
ENSMUSG00000028013 |
| Gene Name |
pyrophosphatase (inorganic) 2 |
| Synonyms |
Sid6306, 1110013G13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
133015871-133083996 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133083623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 327
(F327S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029644]
[ENSMUST00000106315]
[ENSMUST00000122334]
|
| AlphaFold |
Q91VM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029644
AA Change: F327S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029644
Gene: ENSMUSG00000028013
AA Change: F327S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
26 |
N/A |
INTRINSIC |
|
Pfam:Pyrophosphatase
|
89 |
271 |
8.4e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106315
|
| SMART Domains |
Protein: ENSMUSP00000101922
Gene: ENSMUSG00000028013
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyrophosphatase
|
1 |
97 |
7.6e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122334
AA Change: F326S
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113369
Gene: ENSMUSG00000028013
AA Change: F326S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
26 |
N/A |
INTRINSIC |
|
Pfam:Pyrophosphatase
|
88 |
272 |
1.5e-58 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125858
|
| SMART Domains |
Protein: ENSMUSP00000117201
Gene: ENSMUSG00000028013
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyrophosphatase
|
37 |
146 |
8.8e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196807
|
| Coding Region Coverage |
|
| 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 localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,343,336 (GRCm39) |
Y204H |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,316,293 (GRCm39) |
T583K |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,628,385 (GRCm39) |
Q2948K |
possibly damaging |
Het |
| Auts2 |
C |
T |
5: 131,499,259 (GRCm39) |
R327Q |
probably damaging |
Het |
| Card14 |
A |
C |
11: 119,235,530 (GRCm39) |
E988A |
probably damaging |
Het |
| Ccl25 |
T |
C |
8: 4,398,700 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
A |
C |
3: 104,918,582 (GRCm39) |
V86G |
probably damaging |
Het |
| Cyb5r2 |
G |
A |
7: 107,350,394 (GRCm39) |
T213I |
probably damaging |
Het |
| Ear6 |
A |
G |
14: 52,091,903 (GRCm39) |
H150R |
probably damaging |
Het |
| Ecm2 |
T |
C |
13: 49,671,846 (GRCm39) |
C116R |
probably damaging |
Het |
| Gabrr2 |
G |
T |
4: 33,095,340 (GRCm39) |
E385* |
probably null |
Het |
| Hyal5 |
T |
A |
6: 24,876,961 (GRCm39) |
V278D |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,408,380 (GRCm39) |
L181P |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,982,523 (GRCm39) |
I53V |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,986 (GRCm39) |
Y368H |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,833,496 (GRCm39) |
V365A |
probably damaging |
Het |
| Nexmif |
G |
T |
X: 103,126,817 (GRCm39) |
H1509Q |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Obox6 |
G |
A |
7: 15,568,804 (GRCm39) |
S24L |
probably damaging |
Het |
| Optc |
T |
A |
1: 133,828,914 (GRCm39) |
I178F |
probably damaging |
Het |
| Or4p22 |
T |
A |
2: 88,317,346 (GRCm39) |
I90N |
probably damaging |
Het |
| Or56a42-ps1 |
G |
T |
7: 104,776,254 (GRCm39) |
L85I |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,700 (GRCm39) |
N1535K |
probably benign |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,597 (GRCm39) |
N464I |
probably damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,416,406 (GRCm39) |
V1681I |
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,285,104 (GRCm39) |
E566G |
probably damaging |
Het |
| Pknox1 |
T |
A |
17: 31,822,339 (GRCm39) |
|
probably benign |
Het |
| Rab39b |
G |
T |
X: 74,618,309 (GRCm39) |
L174M |
probably damaging |
Het |
| Reep5 |
A |
T |
18: 34,505,526 (GRCm39) |
Y48* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sar1a |
T |
A |
10: 61,520,673 (GRCm39) |
|
probably benign |
Het |
| Satb1 |
T |
A |
17: 52,047,095 (GRCm39) |
D740V |
probably damaging |
Het |
| Sema3f |
G |
A |
9: 107,569,440 (GRCm39) |
T128I |
probably damaging |
Het |
| Snx1 |
A |
T |
9: 66,005,731 (GRCm39) |
S129R |
probably damaging |
Het |
| Sptb |
T |
A |
12: 76,652,313 (GRCm39) |
K1641N |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,095,979 (GRCm39) |
E305G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar7d |
A |
T |
10: 23,904,152 (GRCm39) |
I345F |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,779 (GRCm39) |
L258P |
probably damaging |
Het |
| Trav9-4 |
A |
T |
14: 53,913,817 (GRCm39) |
T24S |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,657,739 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,646 (GRCm39) |
T207S |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,311 (GRCm39) |
S447G |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,707,644 (GRCm39) |
L234P |
probably damaging |
Het |
|
| Other mutations in Ppa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02662:Ppa2
|
APN |
3 |
133,073,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02726:Ppa2
|
APN |
3 |
133,076,222 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0098:Ppa2
|
UTSW |
3 |
133,076,234 (GRCm39) |
splice site |
probably benign |
|
|
R0098:Ppa2
|
UTSW |
3 |
133,076,234 (GRCm39) |
splice site |
probably benign |
|
|
R1868:Ppa2
|
UTSW |
3 |
133,053,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Ppa2
|
UTSW |
3 |
133,076,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2096:Ppa2
|
UTSW |
3 |
133,032,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Ppa2
|
UTSW |
3 |
133,026,764 (GRCm39) |
splice site |
probably null |
|
|
R3611:Ppa2
|
UTSW |
3 |
133,053,867 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4299:Ppa2
|
UTSW |
3 |
133,073,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Ppa2
|
UTSW |
3 |
133,032,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Ppa2
|
UTSW |
3 |
133,076,186 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5023:Ppa2
|
UTSW |
3 |
133,076,195 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5881:Ppa2
|
UTSW |
3 |
133,036,200 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6284:Ppa2
|
UTSW |
3 |
133,076,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7194:Ppa2
|
UTSW |
3 |
133,053,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7203:Ppa2
|
UTSW |
3 |
133,036,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7787:Ppa2
|
UTSW |
3 |
133,036,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7839:Ppa2
|
UTSW |
3 |
133,082,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8428:Ppa2
|
UTSW |
3 |
133,053,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Ppa2
|
UTSW |
3 |
133,082,362 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation