Incidental Mutation 'R3622:Upp2'
| ID |
268652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upp2
|
| Ensembl Gene |
ENSMUSG00000026839 |
| Gene Name |
uridine phosphorylase 2 |
| Synonyms |
UPASE2, UP2, UDRPASE2, 1700124F02Rik |
| MMRRC Submission |
040677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R3622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
58457310-58682983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58680128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 300
(R300Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059102]
[ENSMUST00000071543]
[ENSMUST00000102755]
[ENSMUST00000229923]
[ENSMUST00000230627]
|
| AlphaFold |
Q8CGR7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059102
AA Change: R318Q
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: R318Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
78 |
328 |
6.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071543
|
| SMART Domains |
Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
| 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 |
possibly damaging
Transcript: ENSMUST00000102755
AA Change: R300Q
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: R300Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
60 |
310 |
4.2e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229923
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230627
AA Change: R266Q
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0648 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,631 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
| Gucy2e |
T |
A |
11: 69,115,877 (GRCm39) |
E835V |
probably damaging |
Het |
| Hdac5 |
G |
A |
11: 102,086,644 (GRCm39) |
P120S |
probably benign |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
| Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
| Or1e30 |
A |
G |
11: 73,678,567 (GRCm39) |
T268A |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
| Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,515 (GRCm39) |
R143H |
possibly damaging |
Het |
| Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
| Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Srsf9 |
C |
T |
5: 115,468,571 (GRCm39) |
A69V |
probably damaging |
Het |
| Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
probably benign |
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 |
|
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 |
|
|
R7421:Upp2
|
UTSW |
2 |
58,661,586 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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'- CCGATTGCGTCTACATTACAGG -3'
(R):5'- ACTCGTTCCAAAATGGGATTTG -3'
Sequencing Primer
(F):5'- CGATTGCGTCTACATTACAGGGAAAC -3'
(R):5'- CCAAAATGGGATTTGAATTTCGC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation