Incidental Mutation 'R8342:Dpyd'
ID |
644938 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
067731-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8342 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119108452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 832
(T832A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039177
AA Change: T832A
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308 AA Change: T832A
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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
A |
G |
6: 86,963,321 (GRCm39) |
D917G |
unknown |
Het |
Adad1 |
T |
C |
3: 37,134,050 (GRCm39) |
S322P |
probably damaging |
Het |
Agbl4 |
C |
T |
4: 110,976,224 (GRCm39) |
L194F |
probably damaging |
Het |
Ahr |
C |
T |
12: 35,558,271 (GRCm39) |
G250R |
probably damaging |
Het |
AI987944 |
A |
T |
7: 41,024,310 (GRCm39) |
I226N |
probably benign |
Het |
Ankar |
A |
G |
1: 72,691,619 (GRCm39) |
V1114A |
probably damaging |
Het |
Ankrd49 |
C |
A |
9: 14,692,823 (GRCm39) |
A114S |
probably damaging |
Het |
Arl6 |
C |
T |
16: 59,442,802 (GRCm39) |
G140D |
unknown |
Het |
Arrdc3 |
A |
G |
13: 81,031,790 (GRCm39) |
S8G |
probably benign |
Het |
Ate1 |
A |
T |
7: 130,105,495 (GRCm39) |
V298E |
probably benign |
Het |
Atp6v1b2 |
A |
G |
8: 69,554,035 (GRCm39) |
I71V |
probably benign |
Het |
Bin1 |
A |
G |
18: 32,546,166 (GRCm39) |
M112V |
probably benign |
Het |
Camk2b |
C |
T |
11: 5,940,383 (GRCm39) |
A152T |
probably benign |
Het |
Cars2 |
A |
C |
8: 11,579,706 (GRCm39) |
F251V |
probably damaging |
Het |
Cdkl1 |
A |
T |
12: 69,800,952 (GRCm39) |
F229I |
probably damaging |
Het |
Ceacam5 |
A |
T |
7: 17,486,171 (GRCm39) |
Y556F |
possibly damaging |
Het |
Chst15 |
T |
C |
7: 131,849,615 (GRCm39) |
N442S |
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,436,707 (GRCm39) |
D1602E |
possibly damaging |
Het |
Col9a3 |
A |
T |
2: 180,245,183 (GRCm39) |
I131F |
unknown |
Het |
Cyp4f15 |
A |
T |
17: 32,909,733 (GRCm39) |
D110V |
possibly damaging |
Het |
Dlec1 |
A |
G |
9: 118,968,457 (GRCm39) |
I1258V |
probably benign |
Het |
Eno1 |
A |
G |
4: 150,329,693 (GRCm39) |
Y189C |
probably damaging |
Het |
Gnat3 |
A |
G |
5: 18,208,838 (GRCm39) |
T181A |
|
Het |
Kif1b |
T |
C |
4: 149,306,805 (GRCm39) |
M852V |
probably damaging |
Het |
Klk1b26 |
A |
T |
7: 43,665,508 (GRCm39) |
I139F |
probably damaging |
Het |
Loxhd1 |
G |
A |
18: 77,493,681 (GRCm39) |
V1547M |
possibly damaging |
Het |
Lrp4 |
A |
G |
2: 91,318,790 (GRCm39) |
T876A |
probably damaging |
Het |
Malrd1 |
G |
T |
2: 15,638,035 (GRCm39) |
W451L |
unknown |
Het |
Marchf6 |
A |
T |
15: 31,494,262 (GRCm39) |
N261K |
possibly damaging |
Het |
Mcpt2 |
T |
C |
14: 56,280,250 (GRCm39) |
C50R |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,569,981 (GRCm39) |
V846A |
unknown |
Het |
Muc5b |
A |
T |
7: 141,414,602 (GRCm39) |
D2516V |
unknown |
Het |
Myh15 |
T |
C |
16: 48,913,120 (GRCm39) |
L359P |
probably benign |
Het |
Nemp1 |
G |
A |
10: 127,528,898 (GRCm39) |
V201I |
probably benign |
Het |
Nr2e1 |
A |
T |
10: 42,444,425 (GRCm39) |
L228Q |
probably damaging |
Het |
Nrg1 |
C |
A |
8: 32,312,334 (GRCm39) |
V388L |
probably benign |
Het |
Nrg3 |
T |
A |
14: 38,734,053 (GRCm39) |
T278S |
probably damaging |
Het |
Numb |
T |
C |
12: 83,854,990 (GRCm39) |
E112G |
probably benign |
Het |
Or1l4b |
T |
C |
2: 37,036,778 (GRCm39) |
S185P |
probably damaging |
Het |
Or8g2b |
A |
C |
9: 39,751,612 (GRCm39) |
N294T |
probably damaging |
Het |
Pdlim2 |
C |
A |
14: 70,403,563 (GRCm39) |
C283F |
probably damaging |
Het |
Potegl |
T |
A |
2: 23,147,017 (GRCm39) |
|
probably null |
Het |
Ppm1a |
G |
A |
12: 72,830,909 (GRCm39) |
G145R |
probably damaging |
Het |
Pramel14 |
T |
A |
4: 143,720,809 (GRCm39) |
D44V |
probably benign |
Het |
Pramel18 |
A |
T |
4: 101,767,581 (GRCm39) |
M277L |
probably benign |
Het |
Prune2 |
C |
A |
19: 17,103,027 (GRCm39) |
Q2729K |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Scn9a |
G |
T |
2: 66,366,626 (GRCm39) |
T719K |
probably benign |
Het |
Slc12a7 |
T |
C |
13: 73,933,281 (GRCm39) |
V113A |
probably benign |
Het |
Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
Slc37a2 |
A |
T |
9: 37,149,510 (GRCm39) |
|
probably null |
Het |
Steap1 |
G |
A |
5: 5,790,816 (GRCm39) |
S44L |
probably benign |
Het |
Sucnr1 |
C |
T |
3: 59,994,155 (GRCm39) |
R228C |
probably damaging |
Het |
Sult3a1 |
G |
A |
10: 33,742,517 (GRCm39) |
G48D |
probably damaging |
Het |
Syn3 |
A |
T |
10: 86,302,891 (GRCm39) |
V88D |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,058,622 (GRCm39) |
D7297G |
probably benign |
Het |
Tmco5 |
T |
C |
2: 116,710,734 (GRCm39) |
I18T |
probably damaging |
Het |
Trpc1 |
A |
G |
9: 95,608,601 (GRCm39) |
L230P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,719,785 (GRCm39) |
N7108S |
unknown |
Het |
Ubr5 |
A |
G |
15: 38,025,081 (GRCm39) |
V559A |
|
Het |
Ugt1a7c |
T |
C |
1: 88,022,973 (GRCm39) |
V44A |
possibly damaging |
Het |
Vmn2r60 |
A |
T |
7: 41,790,494 (GRCm39) |
S494C |
possibly 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 |
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 |
|
R9070:Dpyd
|
UTSW |
3 |
118,792,892 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- ACCTCCAGAGCTTCCTTTGG -3'
(R):5'- TAGCAGAGTACTCCTTGGTTGAC -3'
Sequencing Primer
(F):5'- CCAGAGCTTCCTTTGGATATCTTGG -3'
(R):5'- CAGAGTACTCCTTGGTTGACACAGG -3'
|
Posted On |
2020-09-02 |