Incidental Mutation 'R2381:Dpys'
ID |
248472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpys
|
Ensembl Gene |
ENSMUSG00000022304 |
Gene Name |
dihydropyrimidinase |
Synonyms |
1300004I01Rik, 1200017I10Rik, DHPase |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
R2381 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
39631883-39720866 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 39705450 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 221
(R221L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105935
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022915]
[ENSMUST00000110306]
|
AlphaFold |
Q9EQF5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022915
AA Change: R221L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022915 Gene: ENSMUSG00000022304 AA Change: R221L
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_1
|
58 |
447 |
1.2e-39 |
PFAM |
Pfam:Amidohydro_3
|
310 |
448 |
6.4e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110306
AA Change: R221L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105935 Gene: ENSMUSG00000022304 AA Change: R221L
Domain | Start | End | E-Value | Type |
Pfam:Amidohydro_5
|
25 |
98 |
8.3e-14 |
PFAM |
Pfam:Amidohydro_4
|
53 |
404 |
4e-22 |
PFAM |
Pfam:Amidohydro_1
|
58 |
407 |
1e-26 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd248 |
G |
T |
19: 5,119,221 (GRCm39) |
M356I |
possibly damaging |
Het |
Cul4a |
T |
C |
8: 13,186,887 (GRCm39) |
V541A |
probably benign |
Het |
Dnajb1 |
T |
A |
8: 84,336,971 (GRCm39) |
F147Y |
possibly damaging |
Het |
Dnhd1 |
A |
G |
7: 105,342,871 (GRCm39) |
K1405R |
probably benign |
Het |
Elapor2 |
C |
T |
5: 9,430,342 (GRCm39) |
P84L |
probably damaging |
Het |
Gm12253 |
C |
T |
11: 58,326,284 (GRCm39) |
R100C |
probably damaging |
Het |
Inppl1 |
A |
T |
7: 101,478,439 (GRCm39) |
S592R |
probably damaging |
Het |
Lct |
G |
A |
1: 128,231,858 (GRCm39) |
Q664* |
probably null |
Het |
Or7g28 |
T |
A |
9: 19,271,753 (GRCm39) |
E299D |
probably benign |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Pnpla7 |
A |
C |
2: 24,870,770 (GRCm39) |
K80T |
probably damaging |
Het |
Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
Slc4a1 |
T |
C |
11: 102,250,128 (GRCm39) |
D105G |
probably benign |
Het |
Tpo |
A |
G |
12: 30,181,826 (GRCm39) |
I23T |
possibly damaging |
Het |
Unc5c |
A |
G |
3: 141,383,916 (GRCm39) |
E98G |
probably damaging |
Het |
Usp13 |
G |
A |
3: 32,935,658 (GRCm39) |
|
probably null |
Het |
Vmn1r175 |
G |
A |
7: 23,508,093 (GRCm39) |
T178I |
probably benign |
Het |
Zgrf1 |
A |
T |
3: 127,349,863 (GRCm39) |
M15L |
probably benign |
Het |
|
Other mutations in Dpys |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01015:Dpys
|
APN |
15 |
39,710,045 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01408:Dpys
|
APN |
15 |
39,656,702 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02372:Dpys
|
APN |
15 |
39,656,667 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02949:Dpys
|
APN |
15 |
39,690,279 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03357:Dpys
|
APN |
15 |
39,687,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02837:Dpys
|
UTSW |
15 |
39,720,701 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4468001:Dpys
|
UTSW |
15 |
39,720,601 (GRCm39) |
missense |
probably damaging |
0.96 |
R0315:Dpys
|
UTSW |
15 |
39,720,734 (GRCm39) |
missense |
probably benign |
0.01 |
R1252:Dpys
|
UTSW |
15 |
39,687,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R2314:Dpys
|
UTSW |
15 |
39,691,486 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2961:Dpys
|
UTSW |
15 |
39,648,010 (GRCm39) |
missense |
probably benign |
|
R4653:Dpys
|
UTSW |
15 |
39,656,642 (GRCm39) |
missense |
probably damaging |
0.97 |
R4702:Dpys
|
UTSW |
15 |
39,656,798 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4978:Dpys
|
UTSW |
15 |
39,690,332 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5640:Dpys
|
UTSW |
15 |
39,705,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R5714:Dpys
|
UTSW |
15 |
39,720,553 (GRCm39) |
missense |
probably damaging |
0.98 |
R5758:Dpys
|
UTSW |
15 |
39,690,395 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6017:Dpys
|
UTSW |
15 |
39,710,114 (GRCm39) |
missense |
probably null |
0.04 |
R6482:Dpys
|
UTSW |
15 |
39,705,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R6788:Dpys
|
UTSW |
15 |
39,720,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R7090:Dpys
|
UTSW |
15 |
39,690,279 (GRCm39) |
missense |
probably damaging |
0.97 |
R7098:Dpys
|
UTSW |
15 |
39,656,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R7869:Dpys
|
UTSW |
15 |
39,656,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8030:Dpys
|
UTSW |
15 |
39,691,486 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8092:Dpys
|
UTSW |
15 |
39,710,010 (GRCm39) |
missense |
probably benign |
0.00 |
R8318:Dpys
|
UTSW |
15 |
39,648,061 (GRCm39) |
missense |
probably benign |
|
R8347:Dpys
|
UTSW |
15 |
39,720,709 (GRCm39) |
missense |
probably benign |
0.03 |
R8352:Dpys
|
UTSW |
15 |
39,656,720 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8452:Dpys
|
UTSW |
15 |
39,656,720 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8914:Dpys
|
UTSW |
15 |
39,720,619 (GRCm39) |
missense |
probably benign |
|
R9341:Dpys
|
UTSW |
15 |
39,656,748 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9343:Dpys
|
UTSW |
15 |
39,656,748 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9403:Dpys
|
UTSW |
15 |
39,691,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R9473:Dpys
|
UTSW |
15 |
39,687,583 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9723:Dpys
|
UTSW |
15 |
39,691,509 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Dpys
|
UTSW |
15 |
39,705,495 (GRCm39) |
missense |
probably benign |
0.11 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCTGCCCGGTTGTTAAC -3'
(R):5'- GGCACTATGAATCTACGCTATCAGC -3'
Sequencing Primer
(F):5'- GTTGTTAACCTGAGACACCCACG -3'
(R):5'- GCTATCAGCGTATTTCACTCTG -3'
|
Posted On |
2014-11-11 |