Incidental Mutation 'R5587:Dpyd'
| ID |
438799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpyd
|
| Ensembl Gene |
ENSMUSG00000033308 |
| Gene Name |
dihydropyrimidine dehydrogenase |
| Synonyms |
DPD, E330028L06Rik |
| MMRRC Submission |
043141-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
118562129-119432924 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 119064951 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 605
(S605R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
| AlphaFold |
Q8CHR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039177
AA Change: S605R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: S605R
| 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 |
|
| Meta Mutation Damage Score |
0.2728 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
96% (78/81) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 138,065,409 (GRCm38) |
R120G |
probably benign |
Het |
| 4930548H24Rik |
G |
T |
5: 31,486,084 (GRCm38) |
G53W |
probably benign |
Het |
| Acad11 |
A |
G |
9: 104,063,767 (GRCm38) |
T3A |
probably benign |
Het |
| Adamts18 |
G |
A |
8: 113,775,360 (GRCm38) |
Q290* |
probably null |
Het |
| Ahnak |
A |
G |
19: 9,009,476 (GRCm38) |
D2708G |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,525,247 (GRCm38) |
C2105S |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,539,210 (GRCm38) |
F1028I |
probably damaging |
Het |
| Axdnd1 |
C |
G |
1: 156,351,412 (GRCm38) |
W615C |
probably damaging |
Het |
| Bcl3 |
A |
T |
7: 19,809,634 (GRCm38) |
Y10* |
probably null |
Het |
| Bmp2 |
T |
A |
2: 133,554,646 (GRCm38) |
V74E |
possibly damaging |
Het |
| Ccdc78 |
C |
A |
17: 25,786,677 (GRCm38) |
P21Q |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,915,484 (GRCm38) |
V199E |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,746,738 (GRCm38) |
E1120G |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,540,531 (GRCm38) |
W1330R |
unknown |
Het |
| Coq4 |
A |
G |
2: 29,795,514 (GRCm38) |
|
probably null |
Het |
| Cwf19l1 |
G |
A |
19: 44,120,877 (GRCm38) |
T346I |
possibly damaging |
Het |
| Cyct |
T |
C |
2: 76,354,203 (GRCm38) |
Y68C |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,793,913 (GRCm38) |
L2368P |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,437,242 (GRCm38) |
F3346I |
probably damaging |
Het |
| Dpp3 |
A |
T |
19: 4,918,267 (GRCm38) |
V259E |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,362,148 (GRCm38) |
E209G |
probably damaging |
Het |
| Esrra |
A |
G |
19: 6,920,207 (GRCm38) |
S61P |
probably benign |
Het |
| Fam71d |
C |
A |
12: 78,715,075 (GRCm38) |
P171H |
probably damaging |
Het |
| Gbx2 |
T |
A |
1: 89,933,122 (GRCm38) |
|
probably benign |
Het |
| Hepacam |
A |
G |
9: 37,384,684 (GRCm38) |
H377R |
probably damaging |
Het |
| Igkv12-46 |
T |
C |
6: 69,764,550 (GRCm38) |
Y107C |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,675,308 (GRCm38) |
D356G |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,703,220 (GRCm38) |
N113Y |
probably damaging |
Het |
| Krt86 |
G |
A |
15: 101,473,593 (GRCm38) |
A15T |
probably benign |
Het |
| Lhx8 |
A |
T |
3: 154,311,679 (GRCm38) |
S275R |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,835,530 (GRCm38) |
S189T |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,710,342 (GRCm38) |
M702K |
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,573,714 (GRCm38) |
Y223C |
|
Het |
| Lrit3 |
G |
T |
3: 129,788,898 (GRCm38) |
A359E |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,499,263 (GRCm38) |
E1720G |
probably benign |
Het |
| Mcub |
A |
C |
3: 129,916,970 (GRCm38) |
V271G |
probably benign |
Het |
| Nktr |
C |
T |
9: 121,748,489 (GRCm38) |
|
probably benign |
Het |
| Olfr1342 |
T |
A |
4: 118,689,870 (GRCm38) |
D194V |
probably damaging |
Het |
| Olfr1502 |
G |
A |
19: 13,862,576 (GRCm38) |
R261H |
probably damaging |
Het |
| Olfr347 |
A |
T |
2: 36,734,621 (GRCm38) |
Q100L |
probably damaging |
Het |
| Olfr617 |
T |
A |
7: 103,584,531 (GRCm38) |
Y170N |
probably benign |
Het |
| Olfr979 |
A |
T |
9: 40,000,621 (GRCm38) |
I202N |
possibly damaging |
Het |
| Olfr984 |
A |
T |
9: 40,101,244 (GRCm38) |
L82Q |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 36,954,822 (GRCm38) |
V686A |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,089,873 (GRCm38) |
V16A |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 119,073,832 (GRCm38) |
S539P |
probably benign |
Het |
| Prss1 |
A |
G |
6: 41,463,265 (GRCm38) |
I179V |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 150,105,555 (GRCm38) |
Y530H |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,189,859 (GRCm38) |
V1583A |
probably damaging |
Het |
| Raph1 |
T |
G |
1: 60,498,473 (GRCm38) |
D508A |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,394,619 (GRCm38) |
|
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,662,121 (GRCm38) |
L686P |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,291 (GRCm38) |
I1323M |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,273,081 (GRCm38) |
N1934S |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,750,427 (GRCm38) |
H176Y |
probably benign |
Het |
| Sh3glb2 |
A |
G |
2: 30,354,851 (GRCm38) |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,914,576 (GRCm38) |
I1384T |
possibly damaging |
Het |
| Spata31d1a |
A |
C |
13: 59,702,618 (GRCm38) |
C565W |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,127,801 (GRCm38) |
Q278L |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,662,625 (GRCm38) |
H345R |
unknown |
Het |
| Suox |
A |
T |
10: 128,671,825 (GRCm38) |
D111E |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,992,828 (GRCm38) |
F218L |
probably benign |
Het |
| Tfcp2l1 |
C |
A |
1: 118,664,762 (GRCm38) |
N288K |
possibly damaging |
Het |
| Tmem128 |
G |
T |
5: 38,260,421 (GRCm38) |
R7L |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,437,566 (GRCm38) |
N494S |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,193,992 (GRCm38) |
H80L |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,749,271 (GRCm38) |
Q1211* |
probably null |
Het |
| Tns1 |
T |
A |
1: 73,920,596 (GRCm38) |
D1671V |
possibly damaging |
Het |
| Trmt1l |
T |
A |
1: 151,435,704 (GRCm38) |
|
probably benign |
Het |
| Tshz2 |
A |
T |
2: 169,884,342 (GRCm38) |
D286V |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,675,659 (GRCm38) |
E39G |
probably benign |
Het |
| Vmn2r125 |
G |
A |
4: 156,350,138 (GRCm38) |
C73Y |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,504,076 (GRCm38) |
D357G |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 42,300,487 (GRCm38) |
F777S |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,847,561 (GRCm38) |
E407G |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,780,235 (GRCm38) |
N521S |
probably damaging |
Het |
| Zan |
C |
G |
5: 137,391,762 (GRCm38) |
S4816T |
unknown |
Het |
| Zc3h7b |
T |
C |
15: 81,771,858 (GRCm38) |
Y136H |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,381,321 (GRCm38) |
K487R |
possibly damaging |
Het |
|
| Other mutations in Dpyd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Dpyd
|
APN |
3 |
118,944,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00508:Dpyd
|
APN |
3 |
119,064,987 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02113:Dpyd
|
APN |
3 |
118,999,219 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02177:Dpyd
|
APN |
3 |
119,064,910 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL03001:Dpyd
|
APN |
3 |
118,917,242 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL03106:Dpyd
|
APN |
3 |
119,195,134 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03399:Dpyd
|
APN |
3 |
119,314,777 (GRCm38) |
missense |
probably damaging |
0.98 |
|
F5770:Dpyd
|
UTSW |
3 |
118,897,126 (GRCm38) |
nonsense |
probably null |
|
|
F6893:Dpyd
|
UTSW |
3 |
118,804,134 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0014:Dpyd
|
UTSW |
3 |
119,141,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0081:Dpyd
|
UTSW |
3 |
118,944,255 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0267:Dpyd
|
UTSW |
3 |
118,917,272 (GRCm38) |
missense |
probably benign |
|
|
R0349:Dpyd
|
UTSW |
3 |
118,917,099 (GRCm38) |
nonsense |
probably null |
|
|
R0387:Dpyd
|
UTSW |
3 |
119,427,226 (GRCm38) |
missense |
probably benign |
0.21 |
|
R0523:Dpyd
|
UTSW |
3 |
118,899,203 (GRCm38) |
missense |
probably benign |
|
|
R0555:Dpyd
|
UTSW |
3 |
119,431,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0652:Dpyd
|
UTSW |
3 |
119,427,275 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0741:Dpyd
|
UTSW |
3 |
118,674,505 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1313:Dpyd
|
UTSW |
3 |
118,899,161 (GRCm38) |
splice site |
probably benign |
|
|
R1554:Dpyd
|
UTSW |
3 |
119,065,046 (GRCm38) |
splice site |
probably null |
|
|
R1610:Dpyd
|
UTSW |
3 |
119,065,006 (GRCm38) |
missense |
probably benign |
|
|
R1710:Dpyd
|
UTSW |
3 |
118,610,443 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1861:Dpyd
|
UTSW |
3 |
118,917,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2103:Dpyd
|
UTSW |
3 |
119,064,952 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2130:Dpyd
|
UTSW |
3 |
118,674,568 (GRCm38) |
missense |
probably benign |
|
|
R2131:Dpyd
|
UTSW |
3 |
118,674,568 (GRCm38) |
missense |
probably benign |
|
|
R2882:Dpyd
|
UTSW |
3 |
119,065,030 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3771:Dpyd
|
UTSW |
3 |
119,412,278 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3978:Dpyd
|
UTSW |
3 |
118,897,089 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R3978:Dpyd
|
UTSW |
3 |
118,897,088 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R4030:Dpyd
|
UTSW |
3 |
118,897,166 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4065:Dpyd
|
UTSW |
3 |
118,897,089 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R4066:Dpyd
|
UTSW |
3 |
118,897,089 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R4234:Dpyd
|
UTSW |
3 |
119,431,584 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4502:Dpyd
|
UTSW |
3 |
118,797,537 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4638:Dpyd
|
UTSW |
3 |
119,266,077 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4980:Dpyd
|
UTSW |
3 |
118,917,118 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5262:Dpyd
|
UTSW |
3 |
118,797,422 (GRCm38) |
nonsense |
probably null |
|
|
R5348:Dpyd
|
UTSW |
3 |
118,781,943 (GRCm38) |
missense |
probably benign |
|
|
R5611:Dpyd
|
UTSW |
3 |
119,194,293 (GRCm38) |
missense |
probably benign |
|
|
R5665:Dpyd
|
UTSW |
3 |
118,917,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5716:Dpyd
|
UTSW |
3 |
118,899,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5786:Dpyd
|
UTSW |
3 |
119,427,237 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6046:Dpyd
|
UTSW |
3 |
119,431,575 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6404:Dpyd
|
UTSW |
3 |
119,265,957 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6703:Dpyd
|
UTSW |
3 |
118,897,200 (GRCm38) |
splice site |
probably null |
|
|
R7037:Dpyd
|
UTSW |
3 |
118,899,289 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7215:Dpyd
|
UTSW |
3 |
119,266,032 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7301:Dpyd
|
UTSW |
3 |
118,899,284 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7336:Dpyd
|
UTSW |
3 |
119,064,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7714:Dpyd
|
UTSW |
3 |
118,804,131 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8238:Dpyd
|
UTSW |
3 |
119,195,193 (GRCm38) |
splice site |
probably null |
|
|
R8306:Dpyd
|
UTSW |
3 |
119,412,173 (GRCm38) |
missense |
probably benign |
|
|
R8315:Dpyd
|
UTSW |
3 |
119,314,885 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8321:Dpyd
|
UTSW |
3 |
118,781,924 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8342:Dpyd
|
UTSW |
3 |
119,314,803 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8735:Dpyd
|
UTSW |
3 |
119,141,916 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R8750:Dpyd
|
UTSW |
3 |
119,141,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8874:Dpyd
|
UTSW |
3 |
118,999,332 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8910:Dpyd
|
UTSW |
3 |
118,610,518 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8973:Dpyd
|
UTSW |
3 |
119,314,933 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9070:Dpyd
|
UTSW |
3 |
118,999,243 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9132:Dpyd
|
UTSW |
3 |
118,917,248 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9198:Dpyd
|
UTSW |
3 |
118,759,654 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9260:Dpyd
|
UTSW |
3 |
119,314,798 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9307:Dpyd
|
UTSW |
3 |
119,314,911 (GRCm38) |
missense |
probably benign |
|
|
V7581:Dpyd
|
UTSW |
3 |
118,897,126 (GRCm38) |
nonsense |
probably null |
|
|
V7582:Dpyd
|
UTSW |
3 |
118,897,126 (GRCm38) |
nonsense |
probably null |
|
|
V7583:Dpyd
|
UTSW |
3 |
118,897,126 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAGTAAGTTAGCAAAAGCTAAG -3'
(R):5'- TGCATCAGCCAAGCAACTGG -3'
Sequencing Primer
(F):5'- AACCTCATCTGGAAAAATGTGAG -3'
(R):5'- CACTTACATTGTCCGGGA -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation