Incidental Mutation 'IGL03133:Gmpr'
| ID |
410404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmpr
|
| Ensembl Gene |
ENSMUSG00000000253 |
| Gene Name |
guanosine monophosphate reductase |
| Synonyms |
2310004P21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
45660905-45699862 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45670494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 72
(V72A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000260]
[ENSMUST00000128873]
|
| AlphaFold |
Q9DCZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000260
AA Change: V76A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000260
Gene: ENSMUSG00000000253
AA Change: V76A
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
8 |
344 |
8.04e-147 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128873
AA Change: V72A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000120825
Gene: ENSMUSG00000000253
AA Change: V72A
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
15 |
289 |
2.59e-77 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: A similar gene in human encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. [provided by RefSeq, May 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,161,730 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
C |
T |
7: 51,226,260 (GRCm39) |
R505* |
probably null |
Het |
| Asphd1 |
A |
G |
7: 126,547,452 (GRCm39) |
C284R |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,943,176 (GRCm39) |
W158R |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,743,411 (GRCm39) |
D188E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,584,777 (GRCm39) |
V306I |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,396,026 (GRCm39) |
|
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,072,726 (GRCm39) |
|
probably null |
Het |
| Dmwd |
T |
A |
7: 18,810,562 (GRCm39) |
V123D |
probably damaging |
Het |
| Eno1 |
A |
G |
4: 150,329,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,176,869 (GRCm39) |
T1542I |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,296,699 (GRCm39) |
S274P |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,706,937 (GRCm39) |
E27G |
probably null |
Het |
| Mtor |
G |
T |
4: 148,568,776 (GRCm39) |
A1099S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,226,244 (GRCm39) |
I763V |
probably benign |
Het |
| Or5m10 |
G |
T |
2: 85,717,478 (GRCm39) |
E111D |
probably damaging |
Het |
| Or5p63 |
G |
T |
7: 107,811,594 (GRCm39) |
S47R |
possibly damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,009 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,276,002 (GRCm39) |
I108T |
probably damaging |
Het |
| Piwil1 |
C |
A |
5: 128,819,093 (GRCm39) |
H201N |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,532,576 (GRCm39) |
V433M |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,799 (GRCm39) |
Y114H |
probably benign |
Het |
| Stx7 |
A |
T |
10: 24,060,936 (GRCm39) |
N221I |
probably damaging |
Het |
| Tbc1d31 |
A |
T |
15: 57,805,855 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
G |
16: 32,200,599 (GRCm39) |
L393R |
probably damaging |
Het |
| Vit |
A |
T |
17: 78,873,500 (GRCm39) |
M59L |
probably benign |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,600 (GRCm39) |
C92S |
probably benign |
Het |
|
| Other mutations in Gmpr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0117:Gmpr
|
UTSW |
13 |
45,670,560 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1698:Gmpr
|
UTSW |
13 |
45,670,520 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1864:Gmpr
|
UTSW |
13 |
45,696,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Gmpr
|
UTSW |
13 |
45,696,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Gmpr
|
UTSW |
13 |
45,674,423 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1920:Gmpr
|
UTSW |
13 |
45,667,997 (GRCm39) |
splice site |
probably benign |
|
|
R3928:Gmpr
|
UTSW |
13 |
45,683,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4524:Gmpr
|
UTSW |
13 |
45,683,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Gmpr
|
UTSW |
13 |
45,692,496 (GRCm39) |
splice site |
probably null |
|
|
R6320:Gmpr
|
UTSW |
13 |
45,685,874 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8715:Gmpr
|
UTSW |
13 |
45,696,102 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9371:Gmpr
|
UTSW |
13 |
45,699,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Gmpr
|
UTSW |
13 |
45,699,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation