Incidental Mutation 'IGL00755:Prps2'
| ID |
13184 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prps2
|
| Ensembl Gene |
ENSMUSG00000025742 |
| Gene Name |
phosphoribosyl pyrophosphate synthetase 2 |
| Synonyms |
2610101M19Rik, Prps-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.397)
|
| Stock # |
IGL00755
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
166129318-166165745 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166157138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 56
(I56N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026839]
|
| AlphaFold |
Q9CS42 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026839
AA Change: I56N
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026839
Gene: ENSMUSG00000025742
AA Change: I56N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pribosyltran_N
|
4 |
120 |
1.5e-48 |
PFAM |
|
Pfam:Pribosyltran
|
142 |
279 |
2.4e-15 |
PFAM |
|
Pfam:Pribosyl_synth
|
200 |
314 |
4e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145456
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Males hemizygous for a null allele show altered B cell physiology with a minor decrease in rates of purine nucleotide biosynthesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,492,102 (GRCm39) |
Y4381C |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,423 (GRCm39) |
T991I |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,295,616 (GRCm39) |
N684S |
possibly damaging |
Het |
| Cep290 |
A |
G |
10: 100,366,966 (GRCm39) |
T1106A |
probably damaging |
Het |
| Cplx4 |
T |
A |
18: 66,090,166 (GRCm39) |
|
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,189,417 (GRCm39) |
|
probably null |
Het |
| Dock8 |
A |
G |
19: 25,028,873 (GRCm39) |
K26E |
probably benign |
Het |
| Fancl |
G |
A |
11: 26,420,916 (GRCm39) |
V349I |
probably benign |
Het |
| Gsg1l |
A |
G |
7: 125,522,598 (GRCm39) |
F210S |
possibly damaging |
Het |
| Mboat2 |
T |
A |
12: 25,007,645 (GRCm39) |
V419E |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,432,057 (GRCm39) |
V2327A |
possibly damaging |
Het |
| Ndnf |
C |
T |
6: 65,680,242 (GRCm39) |
P174S |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,447 (GRCm39) |
D228V |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,265,378 (GRCm39) |
V438A |
probably damaging |
Het |
| Rmdn1 |
T |
A |
4: 19,580,401 (GRCm39) |
N42K |
probably benign |
Het |
| Sass6 |
G |
A |
3: 116,411,977 (GRCm39) |
E312K |
probably damaging |
Het |
| Scrn1 |
T |
A |
6: 54,497,694 (GRCm39) |
D299V |
possibly damaging |
Het |
| Slk |
T |
A |
19: 47,597,449 (GRCm39) |
C86S |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,162,431 (GRCm39) |
E76K |
probably damaging |
Het |
| Zfp282 |
C |
T |
6: 47,857,324 (GRCm39) |
P186S |
probably damaging |
Het |
|
| Other mutations in Prps2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00732:Prps2
|
APN |
X |
166,157,138 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03193:Prps2
|
APN |
X |
166,157,080 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3420:Prps2
|
UTSW |
X |
166,165,504 (GRCm39) |
splice site |
probably null |
|
|
R4357:Prps2
|
UTSW |
X |
166,146,545 (GRCm39) |
nonsense |
probably null |
|
|
R4358:Prps2
|
UTSW |
X |
166,146,545 (GRCm39) |
nonsense |
probably null |
|
|
R4359:Prps2
|
UTSW |
X |
166,146,545 (GRCm39) |
nonsense |
probably null |
|
|
R4649:Prps2
|
UTSW |
X |
166,135,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4650:Prps2
|
UTSW |
X |
166,135,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4651:Prps2
|
UTSW |
X |
166,135,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4652:Prps2
|
UTSW |
X |
166,135,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4653:Prps2
|
UTSW |
X |
166,135,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation