Incidental Mutation 'R7215:Dpyd'
ID |
561370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
045287-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7215 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119059681 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 793
(T793A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039177
AA Change: T793A
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308 AA Change: T793A
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: 98.8%
|
Validation Efficiency |
98% (79/81) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
G |
A |
13: 77,471,690 (GRCm39) |
V1032M |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,238,405 (GRCm39) |
|
probably null |
Het |
Adamts14 |
T |
A |
10: 61,047,375 (GRCm39) |
H739L |
possibly damaging |
Het |
Adgrl3 |
A |
G |
5: 81,841,397 (GRCm39) |
E758G |
probably damaging |
Het |
Ano3 |
T |
A |
2: 110,496,277 (GRCm39) |
T826S |
probably damaging |
Het |
Arhgap45 |
C |
T |
10: 79,861,316 (GRCm39) |
T493I |
possibly damaging |
Het |
Atg9b |
A |
C |
5: 24,593,039 (GRCm39) |
W455G |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,416,785 (GRCm39) |
N496S |
possibly damaging |
Het |
Bckdk |
T |
A |
7: 127,504,282 (GRCm39) |
D60E |
possibly damaging |
Het |
Blmh |
A |
T |
11: 76,856,725 (GRCm39) |
K244* |
probably null |
Het |
Btbd17 |
T |
C |
11: 114,682,291 (GRCm39) |
I474V |
possibly damaging |
Het |
C87436 |
A |
G |
6: 86,439,662 (GRCm39) |
E451G |
possibly damaging |
Het |
Camta1 |
T |
C |
4: 151,229,194 (GRCm39) |
E546G |
probably damaging |
Het |
Casp1 |
A |
G |
9: 5,298,523 (GRCm39) |
|
probably null |
Het |
Ccdc116 |
A |
G |
16: 16,957,792 (GRCm39) |
Y456H |
probably damaging |
Het |
Cep350 |
A |
C |
1: 155,770,453 (GRCm39) |
S1812R |
possibly damaging |
Het |
Chrna10 |
A |
G |
7: 101,761,415 (GRCm39) |
L392P |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,842,181 (GRCm39) |
C434* |
probably null |
Het |
Cxcl9 |
G |
A |
5: 92,471,747 (GRCm39) |
Q98* |
probably null |
Het |
Cyp2c54 |
G |
A |
19: 40,034,626 (GRCm39) |
T348I |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,657,509 (GRCm39) |
R756C |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,815,034 (GRCm39) |
T239A |
probably benign |
Het |
Dnase2a |
A |
T |
8: 85,636,399 (GRCm39) |
|
probably null |
Het |
Edil3 |
T |
C |
13: 88,970,169 (GRCm39) |
|
probably null |
Het |
Ehd1 |
T |
A |
19: 6,347,672 (GRCm39) |
I342N |
possibly damaging |
Het |
Erbb4 |
A |
T |
1: 68,378,619 (GRCm39) |
S341T |
probably benign |
Het |
Ezh1 |
T |
A |
11: 101,106,125 (GRCm39) |
T87S |
probably benign |
Het |
Fam20b |
A |
T |
1: 156,518,123 (GRCm39) |
W224R |
probably damaging |
Het |
Galns |
A |
T |
8: 123,326,087 (GRCm39) |
|
probably null |
Het |
Gm13283 |
C |
T |
4: 88,678,967 (GRCm39) |
|
probably benign |
Het |
Gm49342 |
A |
T |
14: 51,182,040 (GRCm39) |
M23L |
probably benign |
Het |
Gm5114 |
T |
A |
7: 39,060,795 (GRCm39) |
H18L |
probably benign |
Het |
Gpr89 |
A |
G |
3: 96,787,404 (GRCm39) |
W299R |
probably damaging |
Het |
Hadha |
G |
T |
5: 30,324,840 (GRCm39) |
N755K |
probably benign |
Het |
Inpp5d |
A |
T |
1: 87,628,940 (GRCm39) |
H620L |
probably benign |
Het |
Klk1b3 |
T |
A |
7: 43,849,828 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,401,097 (GRCm39) |
T663A |
probably damaging |
Het |
Man1b1 |
A |
G |
2: 25,240,402 (GRCm39) |
N601S |
probably benign |
Het |
Mbtps1 |
A |
G |
8: 120,251,307 (GRCm39) |
V605A |
possibly damaging |
Het |
Med23 |
C |
G |
10: 24,764,327 (GRCm39) |
D311E |
probably benign |
Het |
Myo3a |
G |
T |
2: 22,250,378 (GRCm39) |
D82Y |
possibly damaging |
Het |
Nsd1 |
T |
A |
13: 55,395,454 (GRCm39) |
D1121E |
probably benign |
Het |
Odad1 |
C |
T |
7: 45,586,046 (GRCm39) |
R148C |
probably damaging |
Het |
Or4c116 |
G |
A |
2: 88,942,845 (GRCm39) |
Q4* |
probably null |
Het |
Or5al1 |
C |
T |
2: 85,989,800 (GRCm39) |
V305I |
probably benign |
Het |
Or8b3b |
A |
G |
9: 38,584,743 (GRCm39) |
I12T |
probably benign |
Het |
Otoa |
T |
C |
7: 120,717,795 (GRCm39) |
V19A |
unknown |
Het |
Pcdhb20 |
A |
T |
18: 37,638,439 (GRCm39) |
T322S |
probably benign |
Het |
Pecam1 |
T |
C |
11: 106,586,745 (GRCm39) |
T257A |
probably benign |
Het |
Pi16 |
G |
T |
17: 29,538,072 (GRCm39) |
|
probably benign |
Het |
Pik3c2g |
C |
T |
6: 139,700,589 (GRCm39) |
T293M |
|
Het |
Pira13 |
C |
T |
7: 3,825,310 (GRCm39) |
C444Y |
unknown |
Het |
Pkhd1l1 |
T |
A |
15: 44,391,559 (GRCm39) |
C1542S |
possibly damaging |
Het |
Prrc2b |
G |
A |
2: 32,119,309 (GRCm39) |
G2172R |
probably damaging |
Het |
Prrt1 |
A |
T |
17: 34,848,677 (GRCm39) |
|
probably null |
Het |
Ptprb |
T |
A |
10: 116,174,681 (GRCm39) |
N784K |
possibly damaging |
Het |
Rem1 |
C |
A |
2: 152,470,069 (GRCm39) |
S18R |
probably damaging |
Het |
Ripk4 |
G |
A |
16: 97,548,523 (GRCm39) |
|
probably null |
Het |
Scn8a |
G |
A |
15: 100,927,711 (GRCm39) |
V1397I |
possibly damaging |
Het |
Setbp1 |
T |
A |
18: 78,900,052 (GRCm39) |
H1205L |
probably damaging |
Het |
Shmt1 |
T |
C |
11: 60,692,361 (GRCm39) |
I132V |
probably damaging |
Het |
Slc24a1 |
T |
A |
9: 64,835,785 (GRCm39) |
T781S |
unknown |
Het |
Sncaip |
C |
T |
18: 53,040,415 (GRCm39) |
Q870* |
probably null |
Het |
Stab1 |
A |
T |
14: 30,882,754 (GRCm39) |
N416K |
possibly damaging |
Het |
Tcea1 |
A |
G |
1: 4,937,706 (GRCm39) |
D26G |
probably damaging |
Het |
Tcf20 |
A |
T |
15: 82,737,690 (GRCm39) |
S1254T |
probably benign |
Het |
Tead4 |
T |
A |
6: 128,205,641 (GRCm39) |
I354F |
probably damaging |
Het |
Tex36 |
G |
A |
7: 133,189,147 (GRCm39) |
R142* |
probably null |
Het |
Trav6d-3 |
T |
A |
14: 52,962,799 (GRCm39) |
L12Q |
probably damaging |
Het |
Trpc4 |
A |
G |
3: 54,102,317 (GRCm39) |
T72A |
possibly damaging |
Het |
Trrap |
G |
A |
5: 144,733,945 (GRCm39) |
A933T |
probably benign |
Het |
Tspoap1 |
T |
A |
11: 87,661,315 (GRCm39) |
I589N |
probably benign |
Het |
Ttll5 |
T |
A |
12: 85,980,170 (GRCm39) |
V918E |
probably benign |
Het |
Tut4 |
T |
C |
4: 108,384,205 (GRCm39) |
Y1091H |
probably damaging |
Het |
Txn2 |
A |
G |
15: 77,811,886 (GRCm39) |
|
probably null |
Het |
Ucn3 |
T |
G |
13: 3,991,365 (GRCm39) |
T96P |
probably benign |
Het |
Usp36 |
T |
C |
11: 118,155,980 (GRCm39) |
E764G |
possibly damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
Vmn2r57 |
T |
C |
7: 41,049,710 (GRCm39) |
T680A |
probably benign |
Het |
Vwa3a |
T |
C |
7: 120,394,853 (GRCm39) |
I891T |
possibly damaging |
Het |
Zfp764l1 |
A |
G |
7: 126,990,695 (GRCm39) |
S431P |
probably benign |
Het |
Zhx2 |
A |
G |
15: 57,687,039 (GRCm39) |
I803V |
probably benign |
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 |
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 |
|
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'- TCTAGAAAACTGCTGCCATTGC -3'
(R):5'- AGTGAAGTCTAGGTTTTCTCAGAC -3'
Sequencing Primer
(F):5'- GAAAACTGCTGCCATTGCTTAACG -3'
(R):5'- ACAAATAGTAATGGGTGCCACC -3'
|
Posted On |
2019-06-26 |