Incidental Mutation 'R2904:Gmpr2'
| ID |
261594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmpr2
|
| Ensembl Gene |
ENSMUSG00000002326 |
| Gene Name |
guanosine monophosphate reductase 2 |
| Synonyms |
5730544D12Rik, 1810008P16Rik |
| MMRRC Submission |
040491-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R2904 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55909398-55916657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55910215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 15
(V15A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002397]
[ENSMUST00000010520]
[ENSMUST00000163750]
[ENSMUST00000227178]
[ENSMUST00000227914]
[ENSMUST00000227842]
|
| AlphaFold |
Q99L27 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002397
AA Change: V15A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002397
Gene: ENSMUSG00000002326
AA Change: V15A
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
8 |
347 |
7.5e-147 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010520
|
| SMART Domains |
Protein: ENSMUSP00000010520
Gene: ENSMUSG00000010376
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
72 |
3.94e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163750
|
| SMART Domains |
Protein: ENSMUSP00000130492
Gene: ENSMUSG00000010376
| Domain | Start | End | E-Value | Type |
|---|
|
UBQ
|
1 |
72 |
3.94e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226819
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227178
AA Change: V15A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227914
AA Change: V15A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227842
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228414
|
| Meta Mutation Damage Score |
0.8878 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas1 |
T |
C |
5: 100,957,673 (GRCm39) |
E182G |
probably benign |
Het |
| Acot4 |
C |
G |
12: 84,090,377 (GRCm39) |
T358S |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,199,391 (GRCm39) |
K433E |
probably damaging |
Het |
| Card11 |
T |
A |
5: 140,874,888 (GRCm39) |
D592V |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
| Crisp1 |
C |
T |
17: 40,623,895 (GRCm39) |
|
probably null |
Het |
| Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,772,080 (GRCm39) |
N79S |
possibly damaging |
Het |
| Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
T |
C |
5: 121,430,787 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kdm4b |
G |
A |
17: 56,662,884 (GRCm39) |
G152S |
probably benign |
Het |
| Kdm6b |
G |
A |
11: 69,296,611 (GRCm39) |
T552I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,127,069 (GRCm39) |
Y307C |
probably damaging |
Het |
| Kif11 |
T |
C |
19: 37,392,103 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Madd |
C |
T |
2: 91,006,017 (GRCm39) |
V20M |
probably damaging |
Het |
| Mkrn3 |
C |
A |
7: 62,068,207 (GRCm39) |
R528L |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,148,348 (GRCm39) |
V508A |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,512,976 (GRCm39) |
D28G |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,448,294 (GRCm39) |
W166R |
probably damaging |
Het |
| Or14j2 |
A |
T |
17: 37,885,705 (GRCm39) |
L203Q |
possibly damaging |
Het |
| Or5p59 |
T |
C |
7: 107,702,806 (GRCm39) |
Y97H |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,553,756 (GRCm39) |
D119V |
possibly damaging |
Het |
| Smarcc1 |
A |
G |
9: 110,003,043 (GRCm39) |
N378D |
possibly damaging |
Het |
| Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,632,185 (GRCm39) |
N772S |
possibly damaging |
Het |
| Trim21 |
A |
G |
7: 102,209,178 (GRCm39) |
W282R |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,296,521 (GRCm39) |
Y447F |
possibly damaging |
Het |
| Zfp160 |
G |
A |
17: 21,245,911 (GRCm39) |
V154I |
probably benign |
Het |
|
| Other mutations in Gmpr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Gmpr2
|
APN |
14 |
55,913,171 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00949:Gmpr2
|
APN |
14 |
55,914,207 (GRCm39) |
splice site |
probably benign |
|
|
IGL02348:Gmpr2
|
APN |
14 |
55,915,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0092:Gmpr2
|
UTSW |
14 |
55,915,402 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0197:Gmpr2
|
UTSW |
14 |
55,910,192 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0323:Gmpr2
|
UTSW |
14 |
55,910,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0594:Gmpr2
|
UTSW |
14 |
55,915,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1366:Gmpr2
|
UTSW |
14 |
55,914,200 (GRCm39) |
splice site |
probably benign |
|
|
R4996:Gmpr2
|
UTSW |
14 |
55,914,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5407:Gmpr2
|
UTSW |
14 |
55,915,733 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5695:Gmpr2
|
UTSW |
14 |
55,914,691 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6721:Gmpr2
|
UTSW |
14 |
55,910,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7414:Gmpr2
|
UTSW |
14 |
55,910,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7623:Gmpr2
|
UTSW |
14 |
55,910,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8181:Gmpr2
|
UTSW |
14 |
55,910,441 (GRCm39) |
nonsense |
probably null |
|
|
R8944:Gmpr2
|
UTSW |
14 |
55,913,149 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9487:Gmpr2
|
UTSW |
14 |
55,915,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0025:Gmpr2
|
UTSW |
14 |
55,912,847 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Gmpr2
|
UTSW |
14 |
55,910,200 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGGAGACTTGAAGAACC -3'
(R):5'- CATCTGCTTTGAGTTCCGGAAC -3'
Sequencing Primer
(F):5'- TTGAAGAACCACACCCTGATCTG -3'
(R):5'- GTGAGCTCTACCTGCAGACATTAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation