Incidental Mutation 'R8315:Dpyd'
ID |
641617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dpyd
|
Ensembl Gene |
ENSMUSG00000033308 |
Gene Name |
dihydropyrimidine dehydrogenase |
Synonyms |
E330028L06Rik, DPD |
MMRRC Submission |
067720-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8315 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
118355778-119226573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119108534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 859
(H859L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039177]
|
AlphaFold |
Q8CHR6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039177
AA Change: H859L
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000039429 Gene: ENSMUSG00000033308 AA Change: H859L
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: 98.7%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,328,460 (GRCm39) |
E3511V |
probably null |
Het |
Abca13 |
A |
G |
11: 9,535,502 (GRCm39) |
T4709A |
probably benign |
Het |
Aff1 |
G |
T |
5: 103,958,956 (GRCm39) |
V342F |
probably damaging |
Het |
Ahnak2 |
T |
A |
12: 112,745,756 (GRCm39) |
Q1698L |
|
Het |
Ajap1 |
G |
T |
4: 153,516,813 (GRCm39) |
T176K |
probably damaging |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Cct3 |
A |
G |
3: 88,220,564 (GRCm39) |
T259A |
probably benign |
Het |
Cdk8 |
C |
T |
5: 146,205,061 (GRCm39) |
L21F |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,262,686 (GRCm39) |
R262G |
probably benign |
Het |
Csf2rb |
G |
A |
15: 78,231,581 (GRCm39) |
G494D |
possibly damaging |
Het |
Cstf3 |
G |
T |
2: 104,420,926 (GRCm39) |
|
probably benign |
Het |
Cyp4f39 |
A |
G |
17: 32,701,176 (GRCm39) |
D222G |
probably benign |
Het |
Dcp2 |
T |
C |
18: 44,529,071 (GRCm39) |
I62T |
probably benign |
Het |
Dnaaf9 |
ATCCTCCTCCTCCTCCTCC |
ATCCTCCTCCTCCTCC |
2: 130,612,655 (GRCm39) |
|
probably benign |
Het |
Dpp8 |
T |
C |
9: 64,988,133 (GRCm39) |
*893Q |
probably null |
Het |
Dst |
T |
C |
1: 34,323,501 (GRCm39) |
|
probably null |
Het |
Dynlt2a2 |
A |
G |
17: 15,190,717 (GRCm39) |
Y81H |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,825,027 (GRCm39) |
I456V |
probably benign |
Het |
Elf3 |
A |
G |
1: 135,184,314 (GRCm39) |
F185L |
probably benign |
Het |
Emx1 |
A |
G |
6: 85,171,088 (GRCm39) |
T164A |
possibly damaging |
Het |
Fras1 |
G |
A |
5: 96,891,041 (GRCm39) |
V2857M |
probably damaging |
Het |
Gba2 |
AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA |
AAA |
4: 43,569,937 (GRCm39) |
|
probably null |
Het |
Gda |
T |
A |
19: 21,394,435 (GRCm39) |
T215S |
probably benign |
Het |
Gm14443 |
C |
T |
2: 175,013,640 (GRCm39) |
|
probably null |
Het |
Gpr152 |
C |
T |
19: 4,193,469 (GRCm39) |
P337S |
probably damaging |
Het |
H2-T10 |
A |
G |
17: 36,429,905 (GRCm39) |
I296T |
probably benign |
Het |
Hoxd11 |
G |
A |
2: 74,513,466 (GRCm39) |
E244K |
probably benign |
Het |
Inka1 |
C |
A |
9: 107,861,506 (GRCm39) |
S270I |
probably damaging |
Het |
Kazn |
C |
T |
4: 141,869,002 (GRCm39) |
D325N |
|
Het |
Lama2 |
T |
C |
10: 27,298,655 (GRCm39) |
N147S |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,119,167 (GRCm39) |
N817K |
probably benign |
Het |
Met |
T |
C |
6: 17,533,956 (GRCm39) |
S636P |
probably damaging |
Het |
Mrgpra3 |
A |
T |
7: 47,251,051 (GRCm39) |
M1K |
probably null |
Het |
Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
Or10ag2 |
C |
A |
2: 87,248,995 (GRCm39) |
A201D |
probably damaging |
Het |
Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
Or8c13 |
T |
C |
9: 38,091,505 (GRCm39) |
T205A |
probably benign |
Het |
Pbx2 |
A |
G |
17: 34,811,707 (GRCm39) |
I60M |
probably damaging |
Het |
Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
Pla2g4a |
T |
C |
1: 149,761,965 (GRCm39) |
N164S |
probably benign |
Het |
Poln |
A |
G |
5: 34,266,717 (GRCm39) |
M480T |
probably benign |
Het |
Ppp2r2a |
T |
C |
14: 67,261,177 (GRCm39) |
N181S |
probably damaging |
Het |
Ppp3r2 |
A |
C |
4: 49,681,705 (GRCm39) |
F82V |
probably damaging |
Het |
Prox2 |
A |
G |
12: 85,142,182 (GRCm39) |
V7A |
probably benign |
Het |
Ptpn3 |
A |
T |
4: 57,270,063 (GRCm39) |
I33K |
possibly damaging |
Het |
Rad21l |
A |
T |
2: 151,497,160 (GRCm39) |
M318K |
probably benign |
Het |
Rftn1 |
A |
G |
17: 50,309,665 (GRCm39) |
S445P |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Rtp4 |
C |
T |
16: 23,431,998 (GRCm39) |
P177S |
possibly damaging |
Het |
Saa4 |
T |
A |
7: 46,379,052 (GRCm39) |
N96I |
possibly damaging |
Het |
Shb |
A |
G |
4: 45,489,079 (GRCm39) |
Y266H |
probably damaging |
Het |
Slc45a4 |
T |
G |
15: 73,461,405 (GRCm39) |
Y88S |
probably damaging |
Het |
Tbccd1 |
A |
G |
16: 22,641,564 (GRCm39) |
M312T |
probably damaging |
Het |
Tecta |
C |
T |
9: 42,299,121 (GRCm39) |
|
probably null |
Het |
Tle1 |
A |
T |
4: 72,044,428 (GRCm39) |
C526* |
probably null |
Het |
Tmem87a |
C |
T |
2: 120,234,441 (GRCm39) |
G34D |
probably damaging |
Het |
Trav13d-1 |
C |
A |
14: 53,089,059 (GRCm39) |
Q23K |
probably benign |
Het |
Txndc11 |
G |
T |
16: 10,893,465 (GRCm39) |
T755N |
possibly damaging |
Het |
Vmn1r223 |
A |
G |
13: 23,434,339 (GRCm39) |
D311G |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,643,932 (GRCm39) |
Y826F |
possibly damaging |
Het |
Wdr90 |
A |
T |
17: 26,064,399 (GRCm39) |
M1824K |
probably benign |
Het |
Zfp523 |
G |
A |
17: 28,421,562 (GRCm39) |
G440D |
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 |
|
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'- CTATCTGAAGAGATTGCTTTTGGTC -3'
(R):5'- ACATAGCTGTAATCAAGCCTGC -3'
Sequencing Primer
(F):5'- AAGAGATTGCTTTTGGTCTGATGTTC -3'
(R):5'- GCCTGCTTCAGAAAGATTCTACTGG -3'
|
Posted On |
2020-07-28 |