Incidental Mutation 'R6482:Dpys'
| ID |
517178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dpys
|
| Ensembl Gene |
ENSMUSG00000022304 |
| Gene Name |
dihydropyrimidinase |
| Synonyms |
1300004I01Rik, 1200017I10Rik, DHPase |
| MMRRC Submission |
044614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R6482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
39631883-39720866 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39705369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 248
(H248R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022915]
[ENSMUST00000110306]
|
| AlphaFold |
Q9EQF5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022915
AA Change: H248R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022915
Gene: ENSMUSG00000022304
AA Change: H248R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_1
|
58 |
447 |
1.2e-39 |
PFAM |
|
Pfam:Amidohydro_3
|
310 |
448 |
6.4e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110306
AA Change: H248R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105935
Gene: ENSMUSG00000022304
AA Change: H248R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amidohydro_5
|
25 |
98 |
8.3e-14 |
PFAM |
|
Pfam:Amidohydro_4
|
53 |
404 |
4e-22 |
PFAM |
|
Pfam:Amidohydro_1
|
58 |
407 |
1e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 69,902,388 (GRCm39) |
I415V |
probably benign |
Het |
| Akap8l |
A |
G |
17: 32,564,370 (GRCm39) |
F6L |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,527,400 (GRCm39) |
N603Y |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,634,813 (GRCm39) |
S116P |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,825 (GRCm39) |
Q572L |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,070,980 (GRCm39) |
S20P |
probably damaging |
Het |
| Col22a1 |
G |
A |
15: 71,762,338 (GRCm39) |
P107L |
possibly damaging |
Het |
| Dsg2 |
A |
T |
18: 20,734,371 (GRCm39) |
K783I |
possibly damaging |
Het |
| Efnb2 |
A |
T |
8: 8,670,637 (GRCm39) |
V321E |
probably damaging |
Het |
| Eif1ad13 |
A |
G |
12: 87,762,565 (GRCm39) |
Y95C |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,320,086 (GRCm39) |
Y209N |
probably benign |
Het |
| Gm35315 |
A |
T |
5: 110,225,955 (GRCm39) |
C495S |
possibly damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,724 (GRCm39) |
Q335R |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,333,670 (GRCm39) |
L203P |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,624,614 (GRCm39) |
S735P |
probably damaging |
Het |
| Klrg1 |
G |
T |
6: 122,248,412 (GRCm39) |
C162* |
probably null |
Het |
| Mcc |
T |
C |
18: 44,578,931 (GRCm39) |
S651G |
possibly damaging |
Het |
| Nkx2-2 |
T |
A |
2: 147,027,896 (GRCm39) |
I15F |
probably damaging |
Het |
| Nppa |
G |
A |
4: 148,085,328 (GRCm39) |
V13I |
probably benign |
Het |
| Obi1 |
A |
T |
14: 104,717,253 (GRCm39) |
C373* |
probably null |
Het |
| Or8i2 |
G |
C |
2: 86,852,869 (GRCm39) |
F6L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,150,244 (GRCm39) |
N228D |
probably benign |
Het |
| Pgpep1l |
C |
T |
7: 67,888,815 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,622,778 (GRCm39) |
N673D |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,493,672 (GRCm39) |
S315P |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,388,664 (GRCm39) |
|
probably null |
Het |
| Rnf111 |
T |
C |
9: 70,336,889 (GRCm39) |
T925A |
probably damaging |
Het |
| Spag9 |
T |
C |
11: 93,984,328 (GRCm39) |
F734L |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 127,177,434 (GRCm39) |
V746A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,314,243 (GRCm39) |
F119L |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,057,244 (GRCm39) |
M576T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,362,232 (GRCm39) |
V765E |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,093 (GRCm39) |
S140G |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,843 (GRCm39) |
S235P |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,649 (GRCm39) |
S504G |
probably benign |
Het |
| Wnt5b |
A |
T |
6: 119,410,573 (GRCm39) |
L289Q |
possibly damaging |
Het |
| Zfp142 |
G |
A |
1: 74,609,376 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,549,992 (GRCm39) |
|
probably benign |
Het |
| Zfp948 |
A |
G |
17: 21,807,813 (GRCm39) |
H335R |
probably benign |
Het |
|
| Other mutations in Dpys |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Dpys
|
APN |
15 |
39,710,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01408:Dpys
|
APN |
15 |
39,656,702 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02372:Dpys
|
APN |
15 |
39,656,667 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02949:Dpys
|
APN |
15 |
39,690,279 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03357:Dpys
|
APN |
15 |
39,687,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02837:Dpys
|
UTSW |
15 |
39,720,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Dpys
|
UTSW |
15 |
39,720,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0315:Dpys
|
UTSW |
15 |
39,720,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1252:Dpys
|
UTSW |
15 |
39,687,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Dpys
|
UTSW |
15 |
39,691,486 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2381:Dpys
|
UTSW |
15 |
39,705,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2961:Dpys
|
UTSW |
15 |
39,648,010 (GRCm39) |
missense |
probably benign |
|
|
R4653:Dpys
|
UTSW |
15 |
39,656,642 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4702:Dpys
|
UTSW |
15 |
39,656,798 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4978:Dpys
|
UTSW |
15 |
39,690,332 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5640:Dpys
|
UTSW |
15 |
39,705,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5714:Dpys
|
UTSW |
15 |
39,720,553 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5758:Dpys
|
UTSW |
15 |
39,690,395 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6017:Dpys
|
UTSW |
15 |
39,710,114 (GRCm39) |
missense |
probably null |
0.04 |
|
R6788:Dpys
|
UTSW |
15 |
39,720,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Dpys
|
UTSW |
15 |
39,690,279 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7098:Dpys
|
UTSW |
15 |
39,656,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Dpys
|
UTSW |
15 |
39,656,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Dpys
|
UTSW |
15 |
39,691,486 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8092:Dpys
|
UTSW |
15 |
39,710,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8318:Dpys
|
UTSW |
15 |
39,648,061 (GRCm39) |
missense |
probably benign |
|
|
R8347:Dpys
|
UTSW |
15 |
39,720,709 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8352:Dpys
|
UTSW |
15 |
39,656,720 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8452:Dpys
|
UTSW |
15 |
39,656,720 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8914:Dpys
|
UTSW |
15 |
39,720,619 (GRCm39) |
missense |
probably benign |
|
|
R9341:Dpys
|
UTSW |
15 |
39,656,748 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9343:Dpys
|
UTSW |
15 |
39,656,748 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9403:Dpys
|
UTSW |
15 |
39,691,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9473:Dpys
|
UTSW |
15 |
39,687,583 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9723:Dpys
|
UTSW |
15 |
39,691,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dpys
|
UTSW |
15 |
39,705,495 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGGCCCTACGTAGAAGG -3'
(R):5'- AGGGGCACTATGAATCTACGC -3'
Sequencing Primer
(F):5'- CCCTACGTAGAAGGAAGAAGTAACC -3'
(R):5'- GGGCACTATGAATCTACGCTATCAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation