Incidental Mutation 'R8359:Upp2'
| ID |
645894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upp2
|
| Ensembl Gene |
ENSMUSG00000026839 |
| Gene Name |
uridine phosphorylase 2 |
| Synonyms |
UPASE2, UP2, UDRPASE2, 1700124F02Rik |
| MMRRC Submission |
067872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R8359 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
58457310-58682983 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58667955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 216
(N216S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059102]
[ENSMUST00000071543]
[ENSMUST00000102755]
[ENSMUST00000229923]
[ENSMUST00000230627]
|
| AlphaFold |
Q8CGR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059102
AA Change: N216S
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000060437
Gene: ENSMUSG00000026839
AA Change: N216S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
78 |
328 |
6.4e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071543
AA Change: N236S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000071474
Gene: ENSMUSG00000026839
AA Change: N236S
| 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: N198S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000099816
Gene: ENSMUSG00000026839
AA Change: N198S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
60 |
310 |
4.2e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229923
AA Change: N198S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230627
AA Change: N164S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,296,502 (GRCm39) |
V315D |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,621,286 (GRCm39) |
I508F |
probably damaging |
Het |
| Atpaf2 |
T |
C |
11: 60,298,129 (GRCm39) |
D147G |
probably damaging |
Het |
| Brwd1 |
T |
C |
16: 95,817,409 (GRCm39) |
T1368A |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,043,799 (GRCm39) |
E1626V |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,480,765 (GRCm39) |
V80I |
possibly damaging |
Het |
| Cenpw |
T |
A |
10: 30,074,484 (GRCm39) |
D71V |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,122,603 (GRCm39) |
|
probably null |
Het |
| Ckmt1 |
A |
T |
2: 121,193,531 (GRCm39) |
T364S |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,945,583 (GRCm39) |
S844G |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,868,538 (GRCm39) |
E1380G |
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 35,021,105 (GRCm39) |
|
probably null |
Het |
| Dhodh |
A |
C |
8: 110,333,038 (GRCm39) |
D12E |
probably benign |
Het |
| Dnali1 |
T |
A |
4: 124,957,460 (GRCm39) |
T95S |
probably damaging |
Het |
| Dynlrb1 |
A |
G |
2: 155,091,870 (GRCm39) |
N93D |
probably benign |
Het |
| Edem1 |
C |
T |
6: 108,823,774 (GRCm39) |
A390V |
probably benign |
Het |
| Enthd1 |
T |
C |
15: 80,358,356 (GRCm39) |
D388G |
probably benign |
Het |
| Fam170a |
A |
G |
18: 50,414,677 (GRCm39) |
T108A |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,233,276 (GRCm39) |
S1531P |
probably benign |
Het |
| Golm2 |
A |
T |
2: 121,697,632 (GRCm39) |
|
probably benign |
Het |
| Hspbap1 |
C |
A |
16: 35,645,366 (GRCm39) |
N350K |
probably benign |
Het |
| Htr3b |
A |
C |
9: 48,858,596 (GRCm39) |
S94R |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,307,886 (GRCm39) |
V42E |
|
Het |
| Igf2r |
A |
G |
17: 12,902,748 (GRCm39) |
V2434A |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,468,023 (GRCm39) |
|
probably null |
Het |
| Kif16b |
G |
A |
2: 142,553,777 (GRCm39) |
A1007V |
probably benign |
Het |
| Mccc1 |
C |
T |
3: 36,018,493 (GRCm39) |
V614I |
probably benign |
Het |
| Mos |
A |
G |
4: 3,871,097 (GRCm39) |
Y240H |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,026,095 (GRCm39) |
|
probably null |
Het |
| Nexn |
T |
A |
3: 151,953,998 (GRCm39) |
D166V |
probably damaging |
Het |
| Or10h1b |
G |
A |
17: 33,395,895 (GRCm39) |
C173Y |
probably damaging |
Het |
| Or2t47 |
G |
T |
11: 58,443,029 (GRCm39) |
T12N |
probably benign |
Het |
| Or4p4 |
A |
T |
2: 88,483,332 (GRCm39) |
M279L |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,267,518 (GRCm39) |
N298K |
probably benign |
Het |
| Pkp4 |
A |
G |
2: 59,180,895 (GRCm39) |
Y1061C |
probably damaging |
Het |
| Pla2g6 |
T |
C |
15: 79,171,370 (GRCm39) |
D740G |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,273,627 (GRCm39) |
I920L |
probably benign |
Het |
| Plekha2 |
A |
G |
8: 25,578,407 (GRCm39) |
I31T |
probably damaging |
Het |
| Ppp1r16b |
G |
T |
2: 158,603,295 (GRCm39) |
V407L |
probably benign |
Het |
| Prss50 |
A |
G |
9: 110,691,370 (GRCm39) |
I225V |
probably damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,935,580 (GRCm39) |
E231V |
|
Het |
| Sema3c |
T |
C |
5: 17,858,726 (GRCm39) |
S42P |
possibly damaging |
Het |
| Sh2d1b1 |
T |
A |
1: 170,110,693 (GRCm39) |
|
probably null |
Het |
| Slc22a20 |
T |
C |
19: 6,021,554 (GRCm39) |
I483V |
probably benign |
Het |
| Slc30a2 |
T |
C |
4: 134,076,690 (GRCm39) |
V275A |
probably damaging |
Het |
| Slc6a3 |
T |
A |
13: 73,693,002 (GRCm39) |
F207L |
probably benign |
Het |
| Slc9a1 |
A |
T |
4: 133,147,927 (GRCm39) |
Q648H |
probably damaging |
Het |
| Slpi |
A |
T |
2: 164,197,975 (GRCm39) |
M1K |
probably null |
Het |
| Smc5 |
A |
C |
19: 23,211,443 (GRCm39) |
S564A |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,738,238 (GRCm39) |
F542L |
probably damaging |
Het |
| Sycp1 |
T |
A |
3: 102,727,909 (GRCm39) |
K901N |
probably damaging |
Het |
| Synpo2l |
T |
A |
14: 20,716,208 (GRCm39) |
T126S |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,969,408 (GRCm39) |
D349G |
probably damaging |
Het |
| Zfp180 |
C |
T |
7: 23,804,337 (GRCm39) |
A252V |
probably benign |
Het |
| Zfr2 |
C |
T |
10: 81,078,653 (GRCm39) |
T295I |
possibly damaging |
Het |
| Zkscan16 |
C |
T |
4: 58,957,230 (GRCm39) |
T504I |
possibly 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 |
|
|
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 |
|
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'- AGGACCCGAAAGTCAACTCG -3'
(R):5'- AAAGGCTATTTGCTTCCCCTTG -3'
Sequencing Primer
(F):5'- GTCAACTCGAGGCAATCTCCTG -3'
(R):5'- AAGGCTATTTGCTTCCCCTTGAAAAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation