Incidental Mutation 'R7301:Dpyd'
| ID |
566959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpyd
|
| Ensembl Gene |
ENSMUSG00000033308 |
| Gene Name |
dihydropyrimidine dehydrogenase |
| Synonyms |
E330028L06Rik, DPD |
| MMRRC Submission |
045405-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7301 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118692933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 359
(V359A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
| AlphaFold |
Q8CHR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039177
AA Change: V359A
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: V359A
| 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: 99.0%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
G |
A |
7: 119,376,308 (GRCm39) |
S345N |
possibly damaging |
Het |
| Agk |
A |
T |
6: 40,306,451 (GRCm39) |
T7S |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,488,624 (GRCm39) |
E1345G |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,689,940 (GRCm39) |
Y493F |
probably benign |
Het |
| Atxn2l |
G |
T |
7: 126,093,383 (GRCm39) |
Y791* |
probably null |
Het |
| Cacng8 |
C |
A |
7: 3,463,937 (GRCm39) |
T363K |
probably benign |
Het |
| Camkmt |
A |
G |
17: 85,738,921 (GRCm39) |
T216A |
probably benign |
Het |
| Cd2ap |
G |
A |
17: 43,140,904 (GRCm39) |
R212* |
probably null |
Het |
| Cnppd1 |
A |
G |
1: 75,113,068 (GRCm39) |
L400P |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,422,055 (GRCm39) |
D2797E |
|
Het |
| Ddx24 |
A |
G |
12: 103,385,709 (GRCm39) |
M298T |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,857,732 (GRCm39) |
T93A |
probably benign |
Het |
| Eif2b3 |
T |
A |
4: 116,910,019 (GRCm39) |
S185T |
probably benign |
Het |
| Entpd2 |
T |
A |
2: 25,290,921 (GRCm39) |
I475N |
possibly damaging |
Het |
| Ercc2 |
C |
A |
7: 19,128,060 (GRCm39) |
Q715K |
probably benign |
Het |
| Fam186b |
T |
C |
15: 99,176,629 (GRCm39) |
R754G |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,792,861 (GRCm39) |
V955E |
possibly damaging |
Het |
| Frrs1 |
T |
C |
3: 116,689,212 (GRCm39) |
V361A |
possibly damaging |
Het |
| Gabrr2 |
T |
A |
4: 33,095,284 (GRCm39) |
M391K |
probably benign |
Het |
| Gm3409 |
T |
A |
5: 146,476,357 (GRCm39) |
D169E |
probably benign |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
C |
G |
18: 10,544,970 (GRCm39) |
Q1433E |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,328,423 (GRCm39) |
V233A |
probably benign |
Het |
| Ighv1-58 |
A |
T |
12: 115,275,915 (GRCm39) |
N74K |
probably benign |
Het |
| Il12rb1 |
A |
G |
8: 71,266,343 (GRCm39) |
I229M |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,798,348 (GRCm39) |
I56T |
possibly damaging |
Het |
| Itpr1 |
T |
C |
6: 108,518,985 (GRCm39) |
V2708A |
possibly damaging |
Het |
| Klhl38 |
G |
A |
15: 58,186,376 (GRCm39) |
R118W |
probably damaging |
Het |
| Lmf2 |
C |
A |
15: 89,239,733 (GRCm39) |
|
probably benign |
Het |
| Lrrc3b |
T |
C |
14: 15,357,934 (GRCm38) |
Y224C |
probably damaging |
Het |
| Med1 |
A |
C |
11: 98,043,634 (GRCm39) |
F599C |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,506 (GRCm39) |
S141P |
probably damaging |
Het |
| Mst1r |
G |
T |
9: 107,791,989 (GRCm39) |
A842S |
possibly damaging |
Het |
| Myo3a |
T |
C |
2: 22,436,504 (GRCm39) |
|
probably null |
Het |
| Nos1 |
A |
T |
5: 118,005,970 (GRCm39) |
D230V |
possibly damaging |
Het |
| Nppb |
T |
C |
4: 148,070,780 (GRCm39) |
S52P |
probably benign |
Het |
| Nqo1 |
A |
G |
8: 108,119,280 (GRCm39) |
I99T |
probably damaging |
Het |
| Or1j17 |
T |
A |
2: 36,578,023 (GRCm39) |
M3K |
probably benign |
Het |
| Or6c2b |
T |
C |
10: 128,947,568 (GRCm39) |
H242R |
probably damaging |
Het |
| Pabir1 |
T |
A |
19: 24,454,488 (GRCm39) |
H78L |
probably benign |
Het |
| Pabir1 |
T |
A |
19: 24,454,710 (GRCm39) |
E4V |
probably damaging |
Het |
| Pcdha3 |
G |
A |
18: 37,079,977 (GRCm39) |
E240K |
possibly damaging |
Het |
| Plpp7 |
T |
G |
2: 31,986,067 (GRCm39) |
F82V |
probably benign |
Het |
| Podxl |
G |
T |
6: 31,501,371 (GRCm39) |
P395T |
probably damaging |
Het |
| Prr5l |
T |
A |
2: 101,547,631 (GRCm39) |
D298V |
probably damaging |
Het |
| Rad9b |
A |
G |
5: 122,490,677 (GRCm39) |
V13A |
possibly damaging |
Het |
| Rasl2-9 |
A |
G |
7: 5,128,739 (GRCm39) |
W64R |
probably damaging |
Het |
| Rilp |
G |
T |
11: 75,400,942 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
C |
13: 24,908,984 (GRCm39) |
I1034T |
possibly damaging |
Het |
| Rtn4ip1 |
T |
C |
10: 43,812,016 (GRCm39) |
Y338H |
probably damaging |
Het |
| Shisa5 |
G |
T |
9: 108,883,952 (GRCm39) |
|
probably benign |
Het |
| Slc27a4 |
C |
T |
2: 29,702,944 (GRCm39) |
T591I |
probably null |
Het |
| Snx24 |
G |
T |
18: 53,473,244 (GRCm39) |
V63F |
probably damaging |
Het |
| Spata31f1e |
T |
C |
4: 42,792,923 (GRCm39) |
N403S |
possibly damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,067,798 (GRCm39) |
Y1805* |
probably null |
Het |
| Svep1 |
G |
A |
4: 58,046,587 (GRCm39) |
Q3515* |
probably null |
Het |
| Synpo2 |
A |
C |
3: 122,907,702 (GRCm39) |
M538R |
probably benign |
Het |
| Tfap2a |
T |
C |
13: 40,874,784 (GRCm39) |
K276E |
probably damaging |
Het |
| Tmem158 |
C |
A |
9: 123,089,366 (GRCm39) |
S82I |
probably damaging |
Het |
| Tmtc3 |
G |
T |
10: 100,283,336 (GRCm39) |
H740N |
not run |
Het |
| Top3a |
A |
T |
11: 60,638,974 (GRCm39) |
F559I |
probably damaging |
Het |
| Tysnd1 |
C |
A |
10: 61,532,328 (GRCm39) |
P327T |
possibly damaging |
Het |
| Ulk4 |
T |
A |
9: 120,974,125 (GRCm39) |
D969V |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,853,385 (GRCm39) |
Y525F |
probably benign |
Het |
| Vmn1r127 |
A |
G |
7: 21,052,978 (GRCm39) |
F270S |
probably benign |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,975 (GRCm39) |
S202N |
probably damaging |
Het |
| Vmn2r107 |
A |
G |
17: 20,565,878 (GRCm39) |
I64M |
probably benign |
Het |
| Zfp280b |
C |
G |
10: 75,874,537 (GRCm39) |
Q139E |
probably damaging |
Het |
| Zfp322a |
C |
A |
13: 23,541,313 (GRCm39) |
G143V |
probably damaging |
Het |
| Zfp322a |
C |
T |
13: 23,541,314 (GRCm39) |
G143S |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,329,758 (GRCm39) |
V476D |
probably benign |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
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 |
|
R7215:Dpyd
|
UTSW |
3 |
119,059,681 (GRCm39) |
missense |
probably benign |
0.11 |
|
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'- GAGTACAAGTATCTTTTGAGCTGTC -3'
(R):5'- CAGTGATTTTGACCCAAATGCATG -3'
Sequencing Primer
(F):5'- CTCCATTGCCATCCATAAG -3'
(R):5'- AAGTTCCTTTTAAGTGGACTGTCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation