Incidental Mutation 'R9070:Dpyd'
| ID |
689479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpyd
|
| Ensembl Gene |
ENSMUSG00000033308 |
| Gene Name |
dihydropyrimidine dehydrogenase |
| Synonyms |
E330028L06Rik, DPD |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9070 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 118792892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 533
(I533S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
| AlphaFold |
Q8CHR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039177
AA Change: I533S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: I533S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer4_20
|
55 |
168 |
4.6e-35 |
PFAM |
|
Pfam:Pyr_redox_2
|
188 |
499 |
1.5e-15 |
PFAM |
|
Pfam:NAD_binding_8
|
193 |
249 |
5.5e-8 |
PFAM |
|
Pfam:DHO_dh
|
532 |
838 |
8.1e-36 |
PFAM |
|
Pfam:Dus
|
617 |
822 |
7.5e-8 |
PFAM |
|
Pfam:Fer4_10
|
945 |
997 |
7.4e-9 |
PFAM |
|
Pfam:Fer4_21
|
946 |
1004 |
1.3e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| 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 pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
|
| Allele List at MGI |
All alleles(1) : Targeted, other(1) |
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,100,770 (GRCm39) |
L774P |
probably damaging |
Het |
| Aldh2 |
T |
C |
5: 121,707,032 (GRCm39) |
E495G |
probably damaging |
Het |
| Als2cl |
T |
C |
9: 110,718,288 (GRCm39) |
V343A |
probably benign |
Het |
| Antxrl |
T |
A |
14: 33,793,671 (GRCm39) |
C466* |
probably null |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,329 (GRCm39) |
N446D |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,833 (GRCm39) |
L130P |
probably damaging |
Het |
| Barhl1 |
C |
A |
2: 28,805,423 (GRCm39) |
R90L |
probably benign |
Het |
| Baz2a |
A |
G |
10: 127,958,931 (GRCm39) |
M1149V |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,987,295 (GRCm39) |
S106L |
|
Het |
| Calu |
A |
G |
6: 29,356,567 (GRCm39) |
E31G |
probably benign |
Het |
| Cdh23 |
T |
G |
10: 60,173,539 (GRCm39) |
I1650L |
probably benign |
Het |
| Ceacam9 |
T |
C |
7: 16,457,787 (GRCm39) |
V100A |
possibly damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,654,793 (GRCm39) |
S159R |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,514,373 (GRCm39) |
D1016G |
possibly damaging |
Het |
| Fv1 |
T |
A |
4: 147,954,414 (GRCm39) |
W327R |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,249,762 (GRCm39) |
D411G |
probably benign |
Het |
| Gldc |
A |
T |
19: 30,080,404 (GRCm39) |
D885E |
probably damaging |
Het |
| H4c3 |
A |
G |
13: 23,882,170 (GRCm39) |
V88A |
probably damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,389,371 (GRCm39) |
W82R |
possibly damaging |
Het |
| Hif1an |
A |
G |
19: 44,551,458 (GRCm39) |
S48G |
probably benign |
Het |
| Itgal |
C |
T |
7: 126,927,873 (GRCm39) |
R1023W |
probably null |
Het |
| Kif13a |
C |
A |
13: 46,905,934 (GRCm39) |
A1618S |
probably benign |
Het |
| Lrrc57 |
A |
G |
2: 120,436,565 (GRCm39) |
L181P |
probably damaging |
Het |
| Mptx2 |
T |
A |
1: 173,102,119 (GRCm39) |
D190V |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,656,688 (GRCm39) |
F590L |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,936,103 (GRCm39) |
I381T |
probably damaging |
Het |
| Nipbl |
T |
A |
15: 8,368,215 (GRCm39) |
K1169I |
possibly damaging |
Het |
| Nop9 |
G |
A |
14: 55,990,757 (GRCm39) |
R563H |
probably damaging |
Het |
| Obscn |
A |
T |
11: 59,013,457 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,268 (GRCm39) |
S291R |
probably damaging |
Het |
| Or2b2b |
A |
T |
13: 21,858,985 (GRCm39) |
M43K |
probably benign |
Het |
| Pcgf1 |
T |
A |
6: 83,057,076 (GRCm39) |
H202Q |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,715,601 (GRCm39) |
L1883P |
probably benign |
Het |
| Pde4b |
T |
C |
4: 102,458,994 (GRCm39) |
S505P |
probably damaging |
Het |
| Pitpnm2 |
C |
A |
5: 124,259,375 (GRCm39) |
R1320L |
probably damaging |
Het |
| Plscr4 |
C |
A |
9: 92,372,281 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
C |
T |
6: 25,744,629 (GRCm39) |
R625Q |
|
Het |
| Pou4f1 |
A |
G |
14: 104,704,067 (GRCm39) |
S122P |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,907,208 (GRCm39) |
V1029A |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,427,707 (GRCm39) |
F982L |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Rbks |
A |
G |
5: 31,854,890 (GRCm39) |
V19A |
probably benign |
Het |
| Rps18-ps5 |
A |
G |
13: 28,441,902 (GRCm39) |
Y95C |
probably benign |
Het |
| Rps20 |
A |
T |
4: 3,835,280 (GRCm39) |
D5E |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,447,751 (GRCm39) |
P3266T |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,175,507 (GRCm39) |
|
probably benign |
Het |
| Slc28a2b |
A |
G |
2: 122,352,154 (GRCm39) |
T331A |
probably damaging |
Het |
| Tasor |
T |
C |
14: 27,194,484 (GRCm39) |
V1228A |
probably benign |
Het |
| Trdv5 |
T |
C |
14: 54,386,258 (GRCm39) |
D69G |
probably damaging |
Het |
| Treml4 |
G |
T |
17: 48,576,781 (GRCm39) |
G180C |
probably damaging |
Het |
|
| Other mutations in Dpyd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Dpyd
|
APN |
3 |
118,737,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00508:Dpyd
|
APN |
3 |
118,858,636 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02113:Dpyd
|
APN |
3 |
118,792,868 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02177:Dpyd
|
APN |
3 |
118,858,559 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03001:Dpyd
|
APN |
3 |
118,710,891 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03106:Dpyd
|
APN |
3 |
118,988,783 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03399:Dpyd
|
APN |
3 |
119,108,426 (GRCm39) |
missense |
probably damaging |
0.98 |
|
F5770:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
|
F6893:Dpyd
|
UTSW |
3 |
118,597,783 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0014:Dpyd
|
UTSW |
3 |
118,935,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0081:Dpyd
|
UTSW |
3 |
118,737,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0267:Dpyd
|
UTSW |
3 |
118,710,921 (GRCm39) |
missense |
probably benign |
|
|
R0349:Dpyd
|
UTSW |
3 |
118,710,748 (GRCm39) |
nonsense |
probably null |
|
|
R0387:Dpyd
|
UTSW |
3 |
119,220,875 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0523:Dpyd
|
UTSW |
3 |
118,692,852 (GRCm39) |
missense |
probably benign |
|
|
R0555:Dpyd
|
UTSW |
3 |
119,225,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Dpyd
|
UTSW |
3 |
119,220,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Dpyd
|
UTSW |
3 |
118,468,154 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1313:Dpyd
|
UTSW |
3 |
118,692,810 (GRCm39) |
splice site |
probably benign |
|
|
R1554:Dpyd
|
UTSW |
3 |
118,858,695 (GRCm39) |
splice site |
probably null |
|
|
R1610:Dpyd
|
UTSW |
3 |
118,858,655 (GRCm39) |
missense |
probably benign |
|
|
R1710:Dpyd
|
UTSW |
3 |
118,404,092 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1861:Dpyd
|
UTSW |
3 |
118,710,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Dpyd
|
UTSW |
3 |
118,858,601 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2130:Dpyd
|
UTSW |
3 |
118,468,217 (GRCm39) |
missense |
probably benign |
|
|
R2131:Dpyd
|
UTSW |
3 |
118,468,217 (GRCm39) |
missense |
probably benign |
|
|
R2882:Dpyd
|
UTSW |
3 |
118,858,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3771:Dpyd
|
UTSW |
3 |
119,205,927 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3978:Dpyd
|
UTSW |
3 |
118,690,738 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R3978:Dpyd
|
UTSW |
3 |
118,690,737 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4030:Dpyd
|
UTSW |
3 |
118,690,815 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4065:Dpyd
|
UTSW |
3 |
118,690,738 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4066:Dpyd
|
UTSW |
3 |
118,690,738 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4234:Dpyd
|
UTSW |
3 |
119,225,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4502:Dpyd
|
UTSW |
3 |
118,591,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4638:Dpyd
|
UTSW |
3 |
119,059,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4980:Dpyd
|
UTSW |
3 |
118,710,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5262:Dpyd
|
UTSW |
3 |
118,591,071 (GRCm39) |
nonsense |
probably null |
|
|
R5348:Dpyd
|
UTSW |
3 |
118,575,592 (GRCm39) |
missense |
probably benign |
|
|
R5587:Dpyd
|
UTSW |
3 |
118,858,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Dpyd
|
UTSW |
3 |
118,987,942 (GRCm39) |
missense |
probably benign |
|
|
R5665:Dpyd
|
UTSW |
3 |
118,710,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5716:Dpyd
|
UTSW |
3 |
118,692,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5786:Dpyd
|
UTSW |
3 |
119,220,886 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6046:Dpyd
|
UTSW |
3 |
119,225,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6404:Dpyd
|
UTSW |
3 |
119,059,606 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6703:Dpyd
|
UTSW |
3 |
118,690,849 (GRCm39) |
splice site |
probably null |
|
|
R7037:Dpyd
|
UTSW |
3 |
118,692,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7215:Dpyd
|
UTSW |
3 |
119,059,681 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7301:Dpyd
|
UTSW |
3 |
118,692,933 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7336:Dpyd
|
UTSW |
3 |
118,858,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7714:Dpyd
|
UTSW |
3 |
118,597,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8238:Dpyd
|
UTSW |
3 |
118,988,842 (GRCm39) |
splice site |
probably null |
|
|
R8306:Dpyd
|
UTSW |
3 |
119,205,822 (GRCm39) |
missense |
probably benign |
|
|
R8315:Dpyd
|
UTSW |
3 |
119,108,534 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8321:Dpyd
|
UTSW |
3 |
118,575,573 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8342:Dpyd
|
UTSW |
3 |
119,108,452 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8735:Dpyd
|
UTSW |
3 |
118,935,565 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8750:Dpyd
|
UTSW |
3 |
118,935,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8874:Dpyd
|
UTSW |
3 |
118,792,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Dpyd
|
UTSW |
3 |
118,404,167 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8973:Dpyd
|
UTSW |
3 |
119,108,582 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9132:Dpyd
|
UTSW |
3 |
118,710,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Dpyd
|
UTSW |
3 |
118,553,303 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9260:Dpyd
|
UTSW |
3 |
119,108,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9307:Dpyd
|
UTSW |
3 |
119,108,560 (GRCm39) |
missense |
probably benign |
|
|
V7581:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
|
V7582:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
|
V7583:Dpyd
|
UTSW |
3 |
118,690,775 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGAGTCTGAATTCATTTGCATGC -3'
(R):5'- GGGATGAGAGTGATTGTTTAAACAC -3'
Sequencing Primer
(F):5'- CTGAATTCATTTGCATGCTATGAGG -3'
(R):5'- GGATCCTTGTGCCTTGCAGAAAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation