Incidental Mutation 'R7421:Upp2'
| ID |
575643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upp2
|
| Ensembl Gene |
ENSMUSG00000026839 |
| Gene Name |
uridine phosphorylase 2 |
| Synonyms |
UPASE2, UP2, UDRPASE2, 1700124F02Rik |
| MMRRC Submission |
045499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R7421 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
58457310-58682983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 58661586 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 130
(V130F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059102]
[ENSMUST00000071543]
[ENSMUST00000102755]
[ENSMUST00000229923]
[ENSMUST00000230627]
|
| AlphaFold |
Q8CGR7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059102
AA Change: V130F
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: V130F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
78 |
328 |
6.4e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071543
AA Change: V150F
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
AA Change: V150F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
Pfam:PNP_UDP_1
|
98 |
316 |
7.1e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102755
AA Change: V112F
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: V112F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
60 |
310 |
4.2e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229923
AA Change: V112F
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230627
AA Change: V78F
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
C |
2: 156,397,915 (GRCm39) |
I309T |
possibly damaging |
Het |
| Abca12 |
A |
C |
1: 71,286,295 (GRCm39) |
L2513* |
probably null |
Het |
| Abca13 |
G |
C |
11: 9,460,463 (GRCm39) |
V4158L |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,254,562 (GRCm39) |
T1880A |
possibly damaging |
Het |
| Arhgap5 |
C |
T |
12: 52,564,783 (GRCm39) |
R585C |
probably benign |
Het |
| Arsk |
A |
C |
13: 76,210,634 (GRCm39) |
I471S |
possibly damaging |
Het |
| Asb7 |
T |
C |
7: 66,309,868 (GRCm39) |
D116G |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,998,322 (GRCm39) |
S17P |
probably benign |
Het |
| Atf5 |
T |
C |
7: 44,464,562 (GRCm39) |
E10G |
probably damaging |
Het |
| B3gntl1 |
G |
T |
11: 121,515,004 (GRCm39) |
P255T |
probably benign |
Het |
| Cacna1s |
A |
G |
1: 136,014,540 (GRCm39) |
N649S |
probably damaging |
Het |
| Ccnc |
A |
G |
4: 21,743,291 (GRCm39) |
Y192C |
probably damaging |
Het |
| Cd28 |
A |
G |
1: 60,802,459 (GRCm39) |
N126S |
probably benign |
Het |
| Cep57 |
A |
G |
9: 13,721,969 (GRCm39) |
S360P |
possibly damaging |
Het |
| Ces1e |
C |
T |
8: 93,941,703 (GRCm39) |
V257I |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,969,660 (GRCm39) |
K913R |
probably benign |
Het |
| Cluap1 |
A |
T |
16: 3,758,657 (GRCm39) |
D373V |
probably damaging |
Het |
| Cnmd |
T |
C |
14: 79,882,947 (GRCm39) |
I160V |
probably benign |
Het |
| Col6a4 |
G |
A |
9: 105,897,994 (GRCm39) |
P1686S |
probably damaging |
Het |
| Coro7 |
G |
T |
16: 4,486,615 (GRCm39) |
A186E |
probably benign |
Het |
| Cuta |
T |
C |
17: 27,158,431 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,383,631 (GRCm39) |
H1098Y |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,153,711 (GRCm39) |
C345S |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,352,687 (GRCm39) |
I90K |
possibly damaging |
Het |
| Erich3 |
T |
A |
3: 154,439,198 (GRCm39) |
M280K |
probably damaging |
Het |
| Fcer2a |
T |
A |
8: 3,740,335 (GRCm39) |
H4L |
probably benign |
Het |
| Grk1 |
A |
T |
8: 13,455,316 (GRCm39) |
I67F |
probably damaging |
Het |
| Grm8 |
A |
C |
6: 27,762,476 (GRCm39) |
S250A |
possibly damaging |
Het |
| H2-Q6 |
A |
G |
17: 35,644,204 (GRCm39) |
E62G |
possibly damaging |
Het |
| Inppl1 |
C |
T |
7: 101,482,144 (GRCm39) |
R144H |
probably damaging |
Het |
| Itga3 |
G |
T |
11: 94,959,681 (GRCm39) |
P33Q |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,739,604 (GRCm39) |
S672N |
probably damaging |
Het |
| Itpk1 |
A |
T |
12: 102,540,324 (GRCm39) |
V253E |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Mrps7 |
T |
C |
11: 115,495,717 (GRCm39) |
V85A |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,301,863 (GRCm39) |
L427P |
|
Het |
| Myef2 |
G |
T |
2: 124,952,537 (GRCm39) |
Q185K |
probably benign |
Het |
| Or1e1b-ps1 |
G |
T |
11: 73,846,335 (GRCm39) |
C273F |
unknown |
Het |
| Or4a76 |
T |
A |
2: 89,460,915 (GRCm39) |
D109V |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,289,897 (GRCm39) |
M905I |
possibly damaging |
Het |
| Pgm5 |
C |
T |
19: 24,686,663 (GRCm39) |
V515M |
probably benign |
Het |
| Pik3r1 |
A |
G |
13: 101,825,644 (GRCm39) |
I381T |
probably damaging |
Het |
| Pla2g4f |
A |
G |
2: 120,137,737 (GRCm39) |
M341T |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,056,912 (GRCm39) |
F204L |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,068,587 (GRCm39) |
S244T |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,493,500 (GRCm39) |
V50A |
unknown |
Het |
| Scn7a |
A |
C |
2: 66,505,876 (GRCm39) |
I1671S |
probably benign |
Het |
| Sco2 |
G |
A |
15: 89,255,923 (GRCm39) |
R244C |
possibly damaging |
Het |
| Skic3 |
A |
T |
13: 76,296,944 (GRCm39) |
K1100N |
probably benign |
Het |
| Slfn1 |
A |
G |
11: 83,011,967 (GRCm39) |
M28V |
possibly damaging |
Het |
| Slfn9 |
A |
T |
11: 82,872,197 (GRCm39) |
C846* |
probably null |
Het |
| Slfn9 |
A |
G |
11: 82,878,562 (GRCm39) |
I189T |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,056,109 (GRCm39) |
S327R |
probably benign |
Het |
| Tcaf3 |
A |
T |
6: 42,573,776 (GRCm39) |
N145K |
probably benign |
Het |
| Trarg1 |
G |
A |
11: 76,585,051 (GRCm39) |
R147Q |
unknown |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Vnn3 |
G |
A |
10: 23,741,666 (GRCm39) |
A324T |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,912,412 (GRCm39) |
E88G |
unknown |
Het |
| Zfp39 |
A |
T |
11: 58,780,933 (GRCm39) |
C610S |
probably damaging |
Het |
|
| Other mutations in Upp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Upp2
|
APN |
2 |
58,680,076 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01716:Upp2
|
APN |
2 |
58,680,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02069:Upp2
|
APN |
2 |
58,661,429 (GRCm39) |
splice site |
probably benign |
|
|
IGL02349:Upp2
|
APN |
2 |
58,667,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03072:Upp2
|
APN |
2 |
58,645,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0815:Upp2
|
UTSW |
2 |
58,661,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1164:Upp2
|
UTSW |
2 |
58,653,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1400:Upp2
|
UTSW |
2 |
58,680,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Upp2
|
UTSW |
2 |
58,680,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1581:Upp2
|
UTSW |
2 |
58,664,177 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1674:Upp2
|
UTSW |
2 |
58,680,076 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1702:Upp2
|
UTSW |
2 |
58,661,562 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1902:Upp2
|
UTSW |
2 |
58,661,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Upp2
|
UTSW |
2 |
58,653,674 (GRCm39) |
splice site |
probably null |
|
|
R3011:Upp2
|
UTSW |
2 |
58,680,107 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3622:Upp2
|
UTSW |
2 |
58,680,128 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3623:Upp2
|
UTSW |
2 |
58,680,128 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3731:Upp2
|
UTSW |
2 |
58,645,379 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4257:Upp2
|
UTSW |
2 |
58,670,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Upp2
|
UTSW |
2 |
58,668,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4768:Upp2
|
UTSW |
2 |
58,667,907 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5116:Upp2
|
UTSW |
2 |
58,661,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5638:Upp2
|
UTSW |
2 |
58,680,107 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7100:Upp2
|
UTSW |
2 |
58,681,817 (GRCm39) |
missense |
probably benign |
|
|
R7727:Upp2
|
UTSW |
2 |
58,664,160 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7840:Upp2
|
UTSW |
2 |
58,664,127 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8033:Upp2
|
UTSW |
2 |
58,670,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8359:Upp2
|
UTSW |
2 |
58,667,955 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8461:Upp2
|
UTSW |
2 |
58,670,068 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8510:Upp2
|
UTSW |
2 |
58,670,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Upp2
|
UTSW |
2 |
58,457,454 (GRCm39) |
unclassified |
probably benign |
|
|
R9086:Upp2
|
UTSW |
2 |
58,680,177 (GRCm39) |
nonsense |
probably null |
|
|
R9099:Upp2
|
UTSW |
2 |
58,457,542 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9130:Upp2
|
UTSW |
2 |
58,668,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Upp2
|
UTSW |
2 |
58,667,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Upp2
|
UTSW |
2 |
58,668,022 (GRCm39) |
nonsense |
probably null |
|
|
R9215:Upp2
|
UTSW |
2 |
58,670,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9293:Upp2
|
UTSW |
2 |
58,457,443 (GRCm39) |
missense |
unknown |
|
|
R9343:Upp2
|
UTSW |
2 |
58,645,339 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Upp2
|
UTSW |
2 |
58,670,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATGGTAGGCACCTGCTC -3'
(R):5'- TGAAGACTTCTGCCCTTACCTAAC -3'
Sequencing Primer
(F):5'- AAGGAACTCCGGTTGGA -3'
(R):5'- GCCCTTACCTAACAGTTAAGTAGTG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation