Incidental Mutation 'R6287:Ppat'
| ID |
508264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppat
|
| Ensembl Gene |
ENSMUSG00000029246 |
| Gene Name |
phosphoribosyl pyrophosphate amidotransferase |
| Synonyms |
5730454C12Rik |
| MMRRC Submission |
044457-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R6287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
77061096-77099425 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 77066061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 352
(Y352*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000140076]
[ENSMUST00000155272]
|
| AlphaFold |
Q8CIH9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000031158
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140076
AA Change: Y352*
|
| SMART Domains |
Protein: ENSMUSP00000120632
Gene: ENSMUSG00000029246
AA Change: Y352*
| 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 |
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
94% (34/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
A |
G |
8: 89,037,736 (GRCm39) |
N268S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,367 (GRCm39) |
H4550Q |
probably benign |
Het |
| C330018D20Rik |
A |
C |
18: 57,095,407 (GRCm39) |
|
probably null |
Het |
| Camta2 |
G |
C |
11: 70,572,295 (GRCm39) |
Q310E |
probably damaging |
Het |
| Caskin1 |
A |
T |
17: 24,715,683 (GRCm39) |
K149M |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,514,569 (GRCm39) |
K108E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,403,612 (GRCm39) |
L345P |
probably damaging |
Het |
| Defb6 |
T |
A |
8: 19,278,085 (GRCm39) |
C52* |
probably null |
Het |
| Flii |
A |
T |
11: 60,612,423 (GRCm39) |
I288N |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,904,860 (GRCm39) |
Y55H |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,712,268 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,269,408 (GRCm39) |
C688S |
probably benign |
Het |
| Lmln |
T |
C |
16: 32,894,555 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
C |
9: 18,570,330 (GRCm39) |
T730A |
unknown |
Het |
| Nup88 |
T |
C |
11: 70,856,581 (GRCm39) |
E184G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,235,543 (GRCm39) |
F27L |
possibly damaging |
Het |
| Or10g3 |
A |
T |
14: 52,609,748 (GRCm39) |
V254E |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,369 (GRCm39) |
I150V |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,415,072 (GRCm39) |
N174S |
probably damaging |
Het |
| Or4a15 |
G |
A |
2: 89,193,363 (GRCm39) |
R137* |
probably null |
Het |
| Or6c69b |
T |
C |
10: 129,627,254 (GRCm39) |
E68G |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigf |
G |
A |
17: 87,304,967 (GRCm39) |
A192V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,691 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
T |
G |
11: 54,517,164 (GRCm39) |
|
probably null |
Het |
| Rrp15 |
A |
T |
1: 186,481,373 (GRCm39) |
S45T |
probably benign |
Het |
| Sap18 |
A |
G |
14: 58,035,771 (GRCm39) |
E30G |
probably damaging |
Het |
| Snx6 |
G |
T |
12: 54,793,813 (GRCm39) |
A284E |
possibly damaging |
Het |
| Tm4sf4 |
T |
A |
3: 57,333,112 (GRCm39) |
I26N |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,833 (GRCm39) |
L336P |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,931,041 (GRCm39) |
A335T |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,291 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
G |
A |
7: 29,635,201 (GRCm39) |
T169I |
probably benign |
Het |
| Zfp937 |
A |
T |
2: 150,080,261 (GRCm39) |
H97L |
possibly damaging |
Het |
| Zzef1 |
G |
T |
11: 72,813,938 (GRCm39) |
E2842D |
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 |
|
R4301:Ppat
|
UTSW |
5 |
77,076,348 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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'- CAGAGTTTCACGGATACAGCAC -3'
(R):5'- GGAGCATGCGTACTTAGCTTC -3'
Sequencing Primer
(F):5'- CGGATACAGCACTTTTTATGCCAAC -3'
(R):5'- GAGCATGCGTACTTAGCTTCTAAATG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation