Incidental Mutation 'R4301:Ppat'
| ID |
322409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppat
|
| Ensembl Gene |
ENSMUSG00000029246 |
| Gene Name |
phosphoribosyl pyrophosphate amidotransferase |
| Synonyms |
5730454C12Rik |
| MMRRC Submission |
041088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R4301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77061096-77099425 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 77076348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140076]
[ENSMUST00000155272]
|
| AlphaFold |
Q8CIH9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000031158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000101090
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140076
|
| SMART Domains |
Protein: ENSMUSP00000120632
Gene: ENSMUSG00000029246
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GATase_4
|
27 |
218 |
4e-11 |
PFAM |
|
Pfam:GATase_6
|
74 |
216 |
1.6e-18 |
PFAM |
|
Pfam:GATase_7
|
91 |
241 |
1.6e-16 |
PFAM |
|
Pfam:Pribosyltran
|
309 |
420 |
1.3e-9 |
PFAM |
|
low complexity region
|
474 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155272
|
| SMART Domains |
Protein: ENSMUSP00000116438
Gene: ENSMUSG00000029246
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ecfa2
|
12 |
43 |
6e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| 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 purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,377,266 (GRCm39) |
V95D |
probably damaging |
Het |
| Adamtsl2 |
A |
G |
2: 26,977,295 (GRCm39) |
D252G |
probably null |
Het |
| Adgra3 |
T |
C |
5: 50,118,420 (GRCm39) |
R1043G |
possibly damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,417,237 (GRCm39) |
D562G |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,228 (GRCm39) |
V6A |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,718,810 (GRCm39) |
V337A |
probably benign |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Crb1 |
A |
G |
1: 139,176,568 (GRCm39) |
S472P |
probably benign |
Het |
| Fam193b |
G |
A |
13: 55,690,417 (GRCm39) |
R740* |
probably null |
Het |
| Fer |
G |
T |
17: 64,385,905 (GRCm39) |
L292F |
probably damaging |
Het |
| Gmppa |
G |
A |
1: 75,419,140 (GRCm39) |
R349H |
possibly damaging |
Het |
| Hspa1a |
T |
C |
17: 35,189,482 (GRCm39) |
I474V |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,939,563 (GRCm39) |
S6P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,478,358 (GRCm39) |
S133P |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,216,169 (GRCm39) |
Y294H |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,106 (GRCm39) |
F122I |
possibly damaging |
Het |
| Mypn |
A |
G |
10: 62,954,263 (GRCm39) |
Y124H |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,082,327 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
T |
C |
4: 43,641,332 (GRCm39) |
|
probably null |
Het |
| Or5a3 |
T |
C |
19: 12,400,081 (GRCm39) |
L136P |
probably damaging |
Het |
| Pgm2 |
G |
A |
5: 64,261,140 (GRCm39) |
W51* |
probably null |
Het |
| Phip |
G |
A |
9: 82,841,766 (GRCm39) |
R48* |
probably null |
Het |
| Piezo2 |
T |
C |
18: 63,217,911 (GRCm39) |
T1075A |
probably damaging |
Het |
| Ppp2r2b |
T |
A |
18: 43,031,811 (GRCm39) |
E23D |
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,406,517 (GRCm39) |
I169V |
possibly damaging |
Het |
| Rab37 |
T |
A |
11: 115,049,390 (GRCm39) |
D95E |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,627,234 (GRCm39) |
V50A |
probably benign |
Het |
| Siae |
C |
A |
9: 37,545,009 (GRCm39) |
Q335K |
possibly damaging |
Het |
| Snx14 |
A |
T |
9: 88,292,676 (GRCm39) |
I217K |
probably damaging |
Het |
| Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,659,471 (GRCm39) |
L1143S |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,335,939 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
T |
C |
19: 22,964,656 (GRCm39) |
S1374P |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,215,802 (GRCm39) |
D266E |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
| Zbtb10 |
A |
T |
3: 9,330,220 (GRCm39) |
Q526L |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,078,018 (GRCm39) |
|
probably benign |
Het |
| Zswim8 |
G |
A |
14: 20,763,977 (GRCm39) |
R449H |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,779,861 (GRCm39) |
V1878A |
probably damaging |
Het |
|
| Other mutations in Ppat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02545:Ppat
|
APN |
5 |
77,063,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02679:Ppat
|
APN |
5 |
77,067,316 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0836:Ppat
|
UTSW |
5 |
77,070,348 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2327:Ppat
|
UTSW |
5 |
77,070,314 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2850:Ppat
|
UTSW |
5 |
77,067,222 (GRCm39) |
missense |
probably benign |
|
|
R3434:Ppat
|
UTSW |
5 |
77,065,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4422:Ppat
|
UTSW |
5 |
77,063,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Ppat
|
UTSW |
5 |
77,063,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Ppat
|
UTSW |
5 |
77,063,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Ppat
|
UTSW |
5 |
77,098,811 (GRCm39) |
nonsense |
probably null |
|
|
R4872:Ppat
|
UTSW |
5 |
77,074,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5007:Ppat
|
UTSW |
5 |
77,076,525 (GRCm39) |
intron |
probably benign |
|
|
R5010:Ppat
|
UTSW |
5 |
77,076,525 (GRCm39) |
intron |
probably benign |
|
|
R5325:Ppat
|
UTSW |
5 |
77,076,269 (GRCm39) |
intron |
probably benign |
|
|
R5982:Ppat
|
UTSW |
5 |
77,063,112 (GRCm39) |
missense |
probably benign |
|
|
R6209:Ppat
|
UTSW |
5 |
77,065,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6225:Ppat
|
UTSW |
5 |
77,070,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6287:Ppat
|
UTSW |
5 |
77,066,061 (GRCm39) |
nonsense |
probably null |
|
|
R7367:Ppat
|
UTSW |
5 |
77,067,711 (GRCm39) |
nonsense |
probably null |
|
|
R7426:Ppat
|
UTSW |
5 |
77,063,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7945:Ppat
|
UTSW |
5 |
77,063,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8047:Ppat
|
UTSW |
5 |
77,073,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Ppat
|
UTSW |
5 |
77,063,884 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTCTCAAGCTCTTCAGAG -3'
(R):5'- CGGTTCAGACTGCAGGATTG -3'
Sequencing Primer
(F):5'- TCTTCAGAGCTCATGGACAAC -3'
(R):5'- ATTGCGTCCAGAGCGTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation