Incidental Mutation 'R9341:Dpys'
| ID |
707514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpys
|
| Ensembl Gene |
ENSMUSG00000022304 |
| Gene Name |
dihydropyrimidinase |
| Synonyms |
1300004I01Rik, 1200017I10Rik, DHPase |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R9341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
39631883-39720866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39656748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 440
(T440A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022915]
[ENSMUST00000110306]
|
| AlphaFold |
Q9EQF5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022915
AA Change: T440A
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: T440A
| 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 |
possibly damaging
Transcript: ENSMUST00000110306
AA Change: T440A
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: T440A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155859
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat2 |
T |
C |
17: 13,167,538 (GRCm39) |
N166S |
probably damaging |
Het |
| Agap2 |
G |
C |
10: 126,927,559 (GRCm39) |
G1147R |
unknown |
Het |
| Atp8b2 |
A |
T |
3: 89,855,811 (GRCm39) |
F446I |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,704,315 (GRCm39) |
M822K |
possibly damaging |
Het |
| Caskin1 |
A |
G |
17: 24,723,447 (GRCm39) |
E745G |
probably damaging |
Het |
| Clec4a2 |
G |
T |
6: 123,104,955 (GRCm39) |
A82S |
probably benign |
Het |
| Col5a3 |
T |
C |
9: 20,704,909 (GRCm39) |
N749S |
unknown |
Het |
| Col9a2 |
T |
A |
4: 120,911,483 (GRCm39) |
M608K |
probably benign |
Het |
| Cope |
T |
C |
8: 70,761,228 (GRCm39) |
|
probably null |
Het |
| Dennd2d |
T |
A |
3: 106,397,730 (GRCm39) |
|
probably null |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbln5 |
G |
A |
12: 101,737,551 (GRCm39) |
T152I |
probably damaging |
Het |
| Gm16503 |
A |
T |
4: 147,625,508 (GRCm39) |
M1L |
unknown |
Het |
| Gm9195 |
A |
G |
14: 72,717,500 (GRCm39) |
S278P |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,359 (GRCm39) |
N1787S |
probably benign |
Het |
| Klhl33 |
A |
G |
14: 51,133,903 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
A |
G |
15: 91,584,618 (GRCm39) |
D345G |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,975,951 (GRCm39) |
L368P |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,788,705 (GRCm39) |
S1371T |
probably benign |
Het |
| Mllt3 |
T |
A |
4: 87,792,168 (GRCm39) |
E109D |
possibly damaging |
Het |
| Myom2 |
G |
A |
8: 15,134,633 (GRCm39) |
D479N |
probably damaging |
Het |
| Or52r1c |
A |
T |
7: 102,735,324 (GRCm39) |
R195* |
probably null |
Het |
| Pcdhga10 |
G |
T |
18: 37,880,532 (GRCm39) |
A98S |
probably benign |
Het |
| Pde8a |
A |
T |
7: 80,950,427 (GRCm39) |
Q221H |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,786,399 (GRCm39) |
H2335R |
|
Het |
| Pkd1l1 |
T |
A |
11: 8,911,305 (GRCm39) |
D324V |
|
Het |
| Pou2f2 |
G |
A |
7: 24,794,277 (GRCm39) |
T363I |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,328,988 (GRCm39) |
I488V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,475,441 (GRCm39) |
|
probably null |
Het |
| Rbm7 |
T |
C |
9: 48,400,969 (GRCm39) |
D253G |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,972,116 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
G |
T |
13: 51,573,553 (GRCm39) |
V245L |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,446,219 (GRCm39) |
D2755G |
probably benign |
Het |
| Scgn |
T |
A |
13: 24,173,829 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,966,802 (GRCm39) |
K715E |
probably damaging |
Het |
| Sox18 |
T |
C |
2: 181,312,231 (GRCm39) |
E300G |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,713,190 (GRCm39) |
N394I |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,573,827 (GRCm39) |
F759L |
probably damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,193,066 (GRCm39) |
I269F |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,678,737 (GRCm39) |
D606G |
possibly damaging |
Het |
| Trh |
A |
G |
6: 92,220,823 (GRCm39) |
I13T |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,217,701 (GRCm39) |
I1169T |
possibly damaging |
Het |
| Vwa3b |
G |
A |
1: 37,153,615 (GRCm39) |
D486N |
probably damaging |
Het |
| Wars2 |
T |
C |
3: 99,094,846 (GRCm39) |
L47P |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,695,576 (GRCm39) |
S425G |
probably damaging |
Het |
| Zdhhc16 |
T |
C |
19: 41,926,549 (GRCm39) |
S111P |
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 |
|
R2381:Dpys
|
UTSW |
15 |
39,705,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- CCGTGAACAATAAATGACGAACCTG -3'
(R):5'- TTCTGGAAGCCTCCTGGTAC -3'
Sequencing Primer
(F):5'- TGACGAACCTGACACCCAAGG -3'
(R):5'- GAAGCCTCCTGGTACCAAGTTCTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation