Incidental Mutation 'R8750:Dpyd'
ID |
663752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
068593-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8750 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 118935585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 670
(S670L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039177
AA Change: S670L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308 AA Change: S670L
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: 98.6%
|
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 |
Adam21 |
G |
A |
12: 81,607,247 (GRCm39) |
Q172* |
probably null |
Het |
Ankib1 |
A |
G |
5: 3,752,890 (GRCm39) |
|
probably null |
Het |
Avpr1b |
C |
T |
1: 131,527,674 (GRCm39) |
R66C |
probably damaging |
Het |
Bbs7 |
A |
T |
3: 36,661,744 (GRCm39) |
C152S |
possibly damaging |
Het |
Cacna1a |
C |
A |
8: 85,285,784 (GRCm39) |
R810S |
probably damaging |
Het |
Ccdc17 |
G |
A |
4: 116,457,129 (GRCm39) |
A538T |
possibly damaging |
Het |
Cd93 |
T |
C |
2: 148,285,080 (GRCm39) |
M89V |
probably benign |
Het |
Clec11a |
G |
T |
7: 43,955,323 (GRCm39) |
D157E |
probably benign |
Het |
Crtam |
A |
C |
9: 40,895,641 (GRCm39) |
D228E |
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,012,209 (GRCm39) |
I331V |
probably benign |
Het |
Cysltr2 |
T |
C |
14: 73,267,078 (GRCm39) |
I211V |
probably benign |
Het |
Dcaf13 |
T |
C |
15: 38,982,836 (GRCm39) |
S123P |
probably damaging |
Het |
Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
Dnah1 |
A |
T |
14: 31,026,924 (GRCm39) |
L700Q |
probably benign |
Het |
Dnajc1 |
T |
C |
2: 18,313,645 (GRCm39) |
T159A |
probably damaging |
Het |
Dsg2 |
A |
T |
18: 20,708,069 (GRCm39) |
I57F |
possibly damaging |
Het |
Dzip3 |
A |
C |
16: 48,801,338 (GRCm39) |
I62S |
probably damaging |
Het |
Ern1 |
A |
T |
11: 106,312,776 (GRCm39) |
S202T |
probably damaging |
Het |
Foxm1 |
T |
A |
6: 128,350,206 (GRCm39) |
C517* |
probably null |
Het |
Galnt16 |
G |
A |
12: 80,644,879 (GRCm39) |
V501I |
probably benign |
Het |
Gmip |
A |
T |
8: 70,273,134 (GRCm39) |
R840S |
probably benign |
Het |
Gna14 |
A |
C |
19: 16,585,458 (GRCm39) |
I279L |
|
Het |
Irak2 |
T |
C |
6: 113,663,783 (GRCm39) |
M444T |
probably benign |
Het |
Itfg2 |
T |
C |
6: 128,389,755 (GRCm39) |
|
probably null |
Het |
Kif5a |
T |
A |
10: 127,083,909 (GRCm39) |
H94L |
probably damaging |
Het |
Kmt2e |
A |
G |
5: 23,698,215 (GRCm39) |
T636A |
probably benign |
Het |
Krba1 |
T |
C |
6: 48,382,212 (GRCm39) |
S152P |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,300,822 (GRCm39) |
M25L |
probably benign |
Het |
Map7d1 |
T |
C |
4: 126,132,315 (GRCm39) |
N286D |
probably benign |
Het |
Mfrp |
A |
G |
9: 44,014,802 (GRCm39) |
K280E |
probably benign |
Het |
Mlh3 |
G |
T |
12: 85,308,488 (GRCm39) |
L1100I |
probably damaging |
Het |
Mrgprx2 |
T |
C |
7: 48,131,778 (GRCm39) |
I347V |
probably benign |
Het |
Mtnr1b |
A |
T |
9: 15,785,724 (GRCm39) |
C11* |
probably null |
Het |
Mx1 |
T |
C |
16: 97,252,917 (GRCm39) |
E401G |
probably damaging |
Het |
Mypn |
T |
C |
10: 63,003,036 (GRCm39) |
D367G |
probably benign |
Het |
Nherf2 |
T |
C |
17: 24,861,233 (GRCm39) |
I176V |
probably damaging |
Het |
Or52a33 |
T |
A |
7: 103,289,059 (GRCm39) |
D96V |
probably damaging |
Het |
Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
Or8s8 |
T |
G |
15: 98,354,929 (GRCm39) |
I246R |
probably damaging |
Het |
Or9g19 |
T |
A |
2: 85,600,307 (GRCm39) |
L54H |
probably damaging |
Het |
Plcb1 |
T |
G |
2: 135,177,369 (GRCm39) |
M567R |
probably damaging |
Het |
Plekhd1 |
A |
T |
12: 80,752,861 (GRCm39) |
D109V |
probably damaging |
Het |
Polr2e |
A |
G |
10: 79,875,424 (GRCm39) |
I17T |
probably benign |
Het |
Pot1b |
T |
C |
17: 55,973,537 (GRCm39) |
D421G |
probably benign |
Het |
Prkar1b |
A |
T |
5: 139,036,451 (GRCm39) |
W224R |
probably damaging |
Het |
Psmd1 |
C |
A |
1: 86,016,585 (GRCm39) |
R490S |
probably damaging |
Het |
Pwp2 |
A |
G |
10: 78,013,659 (GRCm39) |
W521R |
probably damaging |
Het |
Rhpn2 |
C |
A |
7: 35,075,680 (GRCm39) |
Q286K |
probably benign |
Het |
Rnf103 |
T |
A |
6: 71,486,602 (GRCm39) |
M411K |
probably benign |
Het |
Scpep1 |
A |
C |
11: 88,835,298 (GRCm39) |
V125G |
probably damaging |
Het |
Serpinb9c |
C |
T |
13: 33,335,793 (GRCm39) |
V248M |
probably null |
Het |
Snx15 |
T |
A |
19: 6,170,593 (GRCm39) |
N282I |
probably benign |
Het |
Spaca3 |
A |
T |
11: 80,758,514 (GRCm39) |
D159V |
probably benign |
Het |
Srrm4 |
A |
G |
5: 116,605,567 (GRCm39) |
V230A |
unknown |
Het |
Ssu2 |
T |
A |
6: 112,359,312 (GRCm39) |
I103F |
possibly damaging |
Het |
Strip2 |
T |
A |
6: 29,931,815 (GRCm39) |
F453I |
probably damaging |
Het |
Tac2 |
C |
T |
10: 127,564,319 (GRCm39) |
P72L |
possibly damaging |
Het |
Tiparp |
T |
G |
3: 65,460,125 (GRCm39) |
S473R |
probably damaging |
Het |
Tmem135 |
C |
T |
7: 88,956,456 (GRCm39) |
R53Q |
probably damaging |
Het |
Tmem200b |
T |
A |
4: 131,649,406 (GRCm39) |
F109I |
probably damaging |
Het |
Tmem245 |
A |
T |
4: 56,886,141 (GRCm39) |
I825N |
probably damaging |
Het |
Tmem63c |
G |
T |
12: 87,103,306 (GRCm39) |
V27F |
probably damaging |
Het |
Tshz1 |
T |
C |
18: 84,033,162 (GRCm39) |
I415M |
probably damaging |
Het |
Tut4 |
C |
G |
4: 108,407,940 (GRCm39) |
A1403G |
probably damaging |
Het |
Wfdc2 |
T |
A |
2: 164,407,818 (GRCm39) |
N162K |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,887,939 (GRCm39) |
I373F |
probably damaging |
Het |
Zfp27 |
T |
C |
7: 29,594,804 (GRCm39) |
N387S |
possibly damaging |
Het |
Zfp760 |
A |
T |
17: 21,941,356 (GRCm39) |
H177L |
possibly damaging |
Het |
Zg16 |
A |
G |
7: 126,649,518 (GRCm39) |
S148P |
possibly damaging |
Het |
Zic2 |
A |
G |
14: 122,714,129 (GRCm39) |
N348D |
probably benign |
Het |
Zswim4 |
A |
T |
8: 84,939,313 (GRCm39) |
D856E |
possibly 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 |
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'- CAAGAGCAGTTTCTACAGAAGTCG -3'
(R):5'- TCTTCAGCCAGTCATCAGATCC -3'
Sequencing Primer
(F):5'- AGACAAAGTGTGGTCCCTTATG -3'
(R):5'- GTCATCAGATCCACACATCTCCTCG -3'
|
Posted On |
2021-03-08 |