Incidental Mutation 'R7336:Dpyd'
| ID |
569476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpyd
|
| Ensembl Gene |
ENSMUSG00000033308 |
| Gene Name |
dihydropyrimidine dehydrogenase |
| Synonyms |
DPD, E330028L06Rik |
| MMRRC Submission |
045426-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
118562129-119432924 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119064921 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 595
(T595A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
| AlphaFold |
Q8CHR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039177
AA Change: T595A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: T595A
| 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: 98.9%
|
| Validation Efficiency |
99% (80/81) |
| 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 |
|---|
| Aadacl2fm1 |
G |
A |
3: 59,932,753 (GRCm38) |
|
probably null |
Het |
| Abca15 |
A |
T |
7: 120,388,233 (GRCm38) |
Q1247H |
possibly damaging |
Het |
| Acsf2 |
G |
C |
11: 94,571,650 (GRCm38) |
Q180E |
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,962,067 (GRCm38) |
D856G |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,174,914 (GRCm38) |
C828* |
probably null |
Het |
| Ankub1 |
T |
C |
3: 57,665,687 (GRCm38) |
T205A |
probably benign |
Het |
| Atm |
A |
T |
9: 53,462,503 (GRCm38) |
Y2150N |
possibly damaging |
Het |
| Barhl1 |
A |
G |
2: 28,909,843 (GRCm38) |
F257L |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,575,485 (GRCm38) |
C27S |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,821,524 (GRCm38) |
R816C |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,364,807 (GRCm38) |
Y172H |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 30,045,282 (GRCm38) |
D1940G |
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,706,601 (GRCm38) |
N624I |
possibly damaging |
Het |
| Ccdc146 |
A |
G |
5: 21,303,112 (GRCm38) |
V646A |
probably benign |
Het |
| Ccp110 |
C |
T |
7: 118,722,210 (GRCm38) |
P363S |
probably damaging |
Het |
| Cct4 |
C |
A |
11: 23,001,564 (GRCm38) |
T377K |
possibly damaging |
Het |
| Cemip2 |
C |
A |
19: 21,826,145 (GRCm38) |
Y847* |
probably null |
Het |
| Cep350 |
T |
A |
1: 155,862,276 (GRCm38) |
H2607L |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,620,104 (GRCm38) |
F1954L |
unknown |
Het |
| Chat |
C |
T |
14: 32,423,256 (GRCm38) |
|
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,876,353 (GRCm38) |
|
probably null |
Het |
| Cldn9 |
T |
C |
17: 23,683,015 (GRCm38) |
D212G |
probably benign |
Het |
| Cp |
G |
A |
3: 19,964,532 (GRCm38) |
|
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,926,400 (GRCm38) |
I1108N |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,797,734 (GRCm38) |
D4060G |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,509,213 (GRCm38) |
R434C |
possibly damaging |
Het |
| Fasl |
A |
G |
1: 161,787,988 (GRCm38) |
Y100H |
probably damaging |
Het |
| Fkbp9 |
A |
T |
6: 56,849,727 (GRCm38) |
N104I |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,473,214 (GRCm38) |
T65A |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,914,357 (GRCm38) |
N102S |
probably damaging |
Het |
| Gm2381 |
T |
C |
7: 42,822,380 (GRCm38) |
Q25R |
possibly damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,161,313 (GRCm38) |
Y58C |
probably damaging |
Het |
| H2-T3 |
C |
A |
17: 36,187,345 (GRCm38) |
K269N |
probably damaging |
Het |
| Icosl |
C |
A |
10: 78,073,873 (GRCm38) |
Y217* |
probably null |
Het |
| Il17rd |
G |
T |
14: 27,087,546 (GRCm38) |
R153L |
probably benign |
Het |
| Kif17 |
C |
A |
4: 138,298,306 (GRCm38) |
T973K |
possibly damaging |
Het |
| Klk1b16 |
A |
G |
7: 44,141,483 (GRCm38) |
I236M |
probably benign |
Het |
| Lgmn |
G |
A |
12: 102,423,739 (GRCm38) |
|
probably benign |
Het |
| Lmbr1l |
T |
C |
15: 98,913,587 (GRCm38) |
D54G |
possibly damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,677,191 (GRCm38) |
I196N |
possibly damaging |
Het |
| Maml1 |
C |
T |
11: 50,266,449 (GRCm38) |
A300T |
possibly damaging |
Het |
| Mapkap1 |
A |
T |
2: 34,533,817 (GRCm38) |
Q293L |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,713,839 (GRCm38) |
T69A |
probably benign |
Het |
| Mlph |
G |
A |
1: 90,921,983 (GRCm38) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,220,609 (GRCm38) |
M1625L |
probably benign |
Het |
| Myh3 |
G |
T |
11: 67,091,021 (GRCm38) |
R781L |
probably benign |
Het |
| Nckap5 |
A |
T |
1: 126,026,049 (GRCm38) |
I922K |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,417,634 (GRCm38) |
M261K |
probably damaging |
Het |
| Or1e1d-ps1 |
G |
A |
11: 73,928,837 (GRCm38) |
M204I |
probably benign |
Het |
| Or4f47 |
A |
T |
2: 112,142,169 (GRCm38) |
S75C |
possibly damaging |
Het |
| Or5af1 |
T |
A |
11: 58,831,924 (GRCm38) |
Y257N |
probably damaging |
Het |
| Or8g52 |
A |
G |
9: 39,719,610 (GRCm38) |
N128D |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,888,972 (GRCm38) |
V262E |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,877,104 (GRCm38) |
D466E |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,345 (GRCm38) |
L115Q |
probably damaging |
Het |
| Rbm15 |
A |
C |
3: 107,333,116 (GRCm38) |
|
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,073,756 (GRCm38) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,593,357 (GRCm38) |
Y133C |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,200,719 (GRCm38) |
D226E |
probably benign |
Het |
| Sgk3 |
G |
A |
1: 9,884,476 (GRCm38) |
A271T |
possibly damaging |
Het |
| Sh2d5 |
T |
A |
4: 138,256,839 (GRCm38) |
C173S |
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,939,572 (GRCm38) |
V291A |
probably benign |
Het |
| Slc22a27 |
T |
A |
19: 7,926,689 (GRCm38) |
N28Y |
probably benign |
Het |
| Slc25a54 |
G |
A |
3: 109,116,435 (GRCm38) |
V449I |
probably benign |
Het |
| Slc39a9 |
T |
C |
12: 80,679,542 (GRCm38) |
F255S |
probably damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,036,128 (GRCm38) |
H495Y |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,969,185 (GRCm38) |
Q310* |
probably null |
Het |
| Supt16 |
C |
A |
14: 52,171,491 (GRCm38) |
A809S |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,236,177 (GRCm38) |
M2125K |
possibly damaging |
Het |
| Tex2 |
G |
A |
11: 106,548,859 (GRCm38) |
T565M |
unknown |
Het |
| Tll1 |
G |
A |
8: 64,025,142 (GRCm38) |
A859V |
probably damaging |
Het |
| Tmem106c |
C |
T |
15: 97,969,631 (GRCm38) |
T232I |
possibly damaging |
Het |
| Trim65 |
T |
G |
11: 116,128,290 (GRCm38) |
D141A |
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,441,216 (GRCm38) |
F78S |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,873,217 (GRCm38) |
I83N |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,851,908 (GRCm38) |
G72D |
probably benign |
Het |
| Wasl |
G |
T |
6: 24,619,687 (GRCm38) |
P278Q |
unknown |
Het |
| Wdr62 |
A |
T |
7: 30,243,917 (GRCm38) |
L951Q |
probably damaging |
Het |
| Zfp760 |
C |
T |
17: 21,723,833 (GRCm38) |
T663I |
unknown |
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 |
|
|
R5587:Dpyd
|
UTSW |
3 |
119,064,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CAATCTAGTACTGCAGTAAGTTAGC -3'
(R):5'- AGCTCATGCCAGTTCTCTTG -3'
Sequencing Primer
(F):5'- TACTGCAGTAAGTTAGCAAAAGC -3'
(R):5'- CATGCCAGTTCTCTTGTTTTAGATG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation