Incidental Mutation 'R2283:Ppa1'
| ID |
243218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppa1
|
| Ensembl Gene |
ENSMUSG00000020089 |
| Gene Name |
pyrophosphatase (inorganic) 1 |
| Synonyms |
Pyp, 2010317E03Rik |
| MMRRC Submission |
040282-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2283 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
61484400-61509944 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 61496788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 92
(W92*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020286]
|
| AlphaFold |
Q9D819 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020286
AA Change: W92*
|
| SMART Domains |
Protein: ENSMUSP00000020286
Gene: ENSMUSG00000020089
AA Change: W92*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyrophosphatase
|
46 |
228 |
2.3e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162028
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 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 a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,253,635 (GRCm39) |
E1235G |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,484,468 (GRCm39) |
H1165Q |
probably benign |
Het |
| Bhmt |
G |
A |
13: 93,756,809 (GRCm39) |
P273L |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,802,140 (GRCm39) |
V283A |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,208,731 (GRCm39) |
P825L |
probably benign |
Het |
| Fas |
G |
A |
19: 34,284,649 (GRCm39) |
G52D |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,802,164 (GRCm39) |
I1209T |
probably benign |
Het |
| Gpt2 |
T |
A |
8: 86,242,818 (GRCm39) |
D283E |
probably benign |
Het |
| Hrh1 |
C |
T |
6: 114,457,400 (GRCm39) |
T227I |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,143,787 (GRCm39) |
F1347S |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,722,822 (GRCm39) |
Y392C |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,690,525 (GRCm39) |
K261E |
probably benign |
Het |
| Nav2 |
G |
T |
7: 49,141,152 (GRCm39) |
R899L |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,876,061 (GRCm39) |
V574A |
possibly damaging |
Het |
| Or2b6 |
G |
A |
13: 21,823,190 (GRCm39) |
R168C |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,584 (GRCm39) |
E556G |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sp3 |
A |
C |
2: 72,801,521 (GRCm39) |
I164S |
possibly damaging |
Het |
| St8sia3 |
G |
T |
18: 64,404,801 (GRCm39) |
E359D |
probably damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,859 (GRCm39) |
I355T |
possibly damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,446 (GRCm39) |
K47I |
probably damaging |
Het |
| Zfp931 |
A |
G |
2: 177,711,714 (GRCm39) |
V11A |
possibly damaging |
Het |
|
| Other mutations in Ppa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01937:Ppa1
|
APN |
10 |
61,501,215 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02489:Ppa1
|
APN |
10 |
61,501,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
hotpot
|
UTSW |
10 |
61,502,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Ppa1
|
UTSW |
10 |
61,502,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Ppa1
|
UTSW |
10 |
61,501,219 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1925:Ppa1
|
UTSW |
10 |
61,487,388 (GRCm39) |
nonsense |
probably null |
|
|
R2394:Ppa1
|
UTSW |
10 |
61,508,163 (GRCm39) |
splice site |
probably benign |
|
|
R6180:Ppa1
|
UTSW |
10 |
61,503,431 (GRCm39) |
missense |
probably benign |
|
|
R6823:Ppa1
|
UTSW |
10 |
61,503,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6893:Ppa1
|
UTSW |
10 |
61,508,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6999:Ppa1
|
UTSW |
10 |
61,496,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7298:Ppa1
|
UTSW |
10 |
61,502,691 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8427:Ppa1
|
UTSW |
10 |
61,496,704 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8743:Ppa1
|
UTSW |
10 |
61,496,758 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9159:Ppa1
|
UTSW |
10 |
61,496,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9335:Ppa1
|
UTSW |
10 |
61,484,562 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9776:Ppa1
|
UTSW |
10 |
61,487,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCATGTCAGGGATGAAAC -3'
(R):5'- TCTGTGAAGAATGTACAGTCGGG -3'
Sequencing Primer
(F):5'- CCATGTCAGGGATGAAACAAATCCTG -3'
(R):5'- TACAGTCGGGAGTCTAAAATGAGTC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation