Incidental Mutation 'R9260:Dpyd'
| ID |
702161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpyd
|
| Ensembl Gene |
ENSMUSG00000033308 |
| Gene Name |
dihydropyrimidine dehydrogenase |
| Synonyms |
E330028L06Rik, DPD |
| MMRRC Submission |
068962-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9260 (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 T
at 119108447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 830
(Y830F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
| AlphaFold |
Q8CHR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039177
AA Change: Y830F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039429
Gene: ENSMUSG00000033308
AA Change: Y830F
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (77/77) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a4 |
A |
G |
1: 172,074,359 (GRCm39) |
I298T |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,318,016 (GRCm39) |
L545H |
probably benign |
Het |
| Cacnb3 |
A |
G |
15: 98,537,438 (GRCm39) |
S39G |
probably benign |
Het |
| Casr |
T |
C |
16: 36,330,326 (GRCm39) |
K336R |
probably benign |
Het |
| Ccdc141 |
C |
A |
2: 76,844,795 (GRCm39) |
G1424V |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,920,599 (GRCm39) |
D437E |
probably benign |
Het |
| Chadl |
A |
G |
15: 81,578,058 (GRCm39) |
S524P |
probably damaging |
Het |
| Cimap2 |
T |
C |
4: 106,472,634 (GRCm39) |
K84E |
probably benign |
Het |
| Clec4a4 |
C |
T |
6: 123,000,895 (GRCm39) |
R203* |
probably null |
Het |
| Cntnap4 |
A |
G |
8: 113,500,276 (GRCm39) |
I523V |
probably benign |
Het |
| Cpb1 |
T |
A |
3: 20,316,638 (GRCm39) |
Y304F |
probably damaging |
Het |
| Dnajc14 |
T |
G |
10: 128,642,766 (GRCm39) |
S229R |
possibly damaging |
Het |
| Dnajc15 |
A |
G |
14: 78,081,839 (GRCm39) |
V101A |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,769,278 (GRCm39) |
V675A |
probably benign |
Het |
| F10 |
G |
A |
8: 13,105,638 (GRCm39) |
C413Y |
probably damaging |
Het |
| Fam47e |
C |
T |
5: 92,735,384 (GRCm39) |
L206F |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,098,006 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
G |
C |
3: 53,560,204 (GRCm39) |
S1434R |
probably damaging |
Het |
| Gli3 |
G |
T |
13: 15,899,675 (GRCm39) |
V1021F |
probably damaging |
Het |
| Gm7168 |
A |
T |
17: 14,169,488 (GRCm39) |
N285I |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,325,691 (GRCm39) |
C1388* |
probably null |
Het |
| Hikeshi |
T |
C |
7: 89,579,776 (GRCm39) |
|
probably benign |
Het |
| Hjv |
T |
A |
3: 96,435,579 (GRCm39) |
I279N |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,907,694 (GRCm39) |
E217G |
probably benign |
Het |
| Ighv1-59 |
T |
C |
12: 115,298,737 (GRCm39) |
T106A |
probably benign |
Het |
| Igkv6-23 |
T |
A |
6: 70,237,457 (GRCm39) |
I95F |
probably damaging |
Het |
| Il31ra |
A |
T |
13: 112,668,202 (GRCm39) |
S456T |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,308,468 (GRCm39) |
D610G |
probably damaging |
Het |
| Iqcg |
G |
A |
16: 32,855,973 (GRCm39) |
Q201* |
probably null |
Het |
| Kat14 |
T |
A |
2: 144,235,441 (GRCm39) |
D300E |
probably benign |
Het |
| Kbtbd13 |
T |
C |
9: 65,298,852 (GRCm39) |
H28R |
possibly damaging |
Het |
| Kcnh2 |
A |
T |
5: 24,528,069 (GRCm39) |
D866E |
probably damaging |
Het |
| Kdm4b |
A |
G |
17: 56,701,775 (GRCm39) |
T595A |
probably benign |
Het |
| Lct |
C |
T |
1: 128,227,704 (GRCm39) |
W1263* |
probably null |
Het |
| Micall2 |
T |
A |
5: 139,695,453 (GRCm39) |
M905L |
unknown |
Het |
| Mkrn1 |
T |
C |
6: 39,382,530 (GRCm39) |
|
probably benign |
Het |
| Mobp |
A |
G |
9: 119,997,572 (GRCm39) |
T164A |
unknown |
Het |
| Mtrr |
T |
C |
13: 68,728,674 (GRCm39) |
E42G |
possibly damaging |
Het |
| Muc5b |
T |
A |
7: 141,405,255 (GRCm39) |
W888R |
unknown |
Het |
| Myh7 |
G |
A |
14: 55,224,842 (GRCm39) |
A575V |
probably damaging |
Het |
| Nbea |
A |
C |
3: 55,891,233 (GRCm39) |
L1612W |
possibly damaging |
Het |
| Notch3 |
A |
G |
17: 32,362,216 (GRCm39) |
|
probably null |
Het |
| Nsun4 |
T |
C |
4: 115,902,007 (GRCm39) |
Y153C |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,039,785 (GRCm39) |
I690T |
probably benign |
Het |
| Nyap2 |
T |
A |
1: 81,064,835 (GRCm39) |
|
probably benign |
Het |
| Oaz1 |
T |
A |
10: 80,662,603 (GRCm39) |
S4T |
possibly damaging |
Het |
| Optn |
C |
T |
2: 5,045,076 (GRCm39) |
C222Y |
probably benign |
Het |
| Or11i1 |
A |
G |
3: 106,729,510 (GRCm39) |
S122P |
probably damaging |
Het |
| Or4f17-ps1 |
T |
A |
2: 111,358,271 (GRCm39) |
V222E |
|
Het |
| Or5ac19 |
T |
C |
16: 59,089,677 (GRCm39) |
M118V |
probably damaging |
Het |
| Or6c76b |
G |
A |
10: 129,692,458 (GRCm39) |
V24M |
probably benign |
Het |
| Or7a40 |
A |
T |
16: 16,491,337 (GRCm39) |
C169* |
probably null |
Het |
| Osmr |
T |
A |
15: 6,882,033 (GRCm39) |
H37L |
probably benign |
Het |
| Pccb |
G |
T |
9: 100,877,643 (GRCm39) |
P287Q |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,764,287 (GRCm39) |
D4253E |
unknown |
Het |
| Pdcd6ip |
A |
T |
9: 113,526,572 (GRCm39) |
|
probably null |
Het |
| Pde9a |
T |
C |
17: 31,678,137 (GRCm39) |
|
probably null |
Het |
| Pdk2 |
C |
A |
11: 94,930,260 (GRCm39) |
V59F |
probably damaging |
Het |
| Pgm1 |
T |
A |
4: 99,827,186 (GRCm39) |
V362E |
probably damaging |
Het |
| Pmepa1 |
CCGGCGGCGGCGGCGGCGG |
CCGGCGGCGGCGGCGG |
2: 173,117,943 (GRCm39) |
|
probably benign |
Het |
| Pold4 |
T |
C |
19: 4,282,904 (GRCm39) |
F97S |
possibly damaging |
Het |
| Ppp5c |
C |
T |
7: 16,740,886 (GRCm39) |
V361I |
probably benign |
Het |
| Prrt1 |
A |
G |
17: 34,850,120 (GRCm39) |
Y178C |
probably damaging |
Het |
| Psmb11 |
A |
T |
14: 54,863,033 (GRCm39) |
I84F |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,737,549 (GRCm39) |
S131P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,078,428 (GRCm39) |
L1728Q |
probably damaging |
Het |
| Stbd1 |
A |
T |
5: 92,753,456 (GRCm39) |
E315D |
probably damaging |
Het |
| Tcaf1 |
C |
T |
6: 42,663,554 (GRCm39) |
G109R |
possibly damaging |
Het |
| Thap12 |
C |
T |
7: 98,356,280 (GRCm39) |
R56* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,645,919 (GRCm39) |
E12848G |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Uqcrfs1 |
G |
A |
13: 30,725,108 (GRCm39) |
A144V |
probably damaging |
Het |
| Usp13 |
T |
A |
3: 32,955,909 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
T |
A |
5: 65,363,789 (GRCm39) |
D67E |
possibly damaging |
Het |
| Zfp998 |
A |
T |
13: 66,579,375 (GRCm39) |
H369Q |
unknown |
Het |
| Zkscan3 |
A |
T |
13: 21,578,210 (GRCm39) |
W226R |
probably damaging |
Het |
| Zmym5 |
A |
C |
14: 57,041,641 (GRCm39) |
F154C |
probably 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 |
|
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 |
|
|
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'- AGTACTCCTTGGTTGACACAG -3'
Sequencing Primer
(F):5'- CCAGAGCTTCCTTTGGATATCTTGG -3'
(R):5'- TACTCCTTGGTTGACACAGGAGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation