Incidental Mutation 'IGL00949:Gmpr2'
| ID |
28963 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmpr2
|
| Ensembl Gene |
ENSMUSG00000002326 |
| Gene Name |
guanosine monophosphate reductase 2 |
| Synonyms |
5730544D12Rik, 1810008P16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.323)
|
| Stock # |
IGL00949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55909398-55916657 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 55914207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002397]
[ENSMUST00000007733]
[ENSMUST00000010520]
[ENSMUST00000163750]
[ENSMUST00000226314]
[ENSMUST00000227914]
[ENSMUST00000227178]
[ENSMUST00000227842]
[ENSMUST00000227873]
|
| AlphaFold |
Q99L27 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002397
|
| SMART Domains |
Protein: ENSMUSP00000002397
Gene: ENSMUSG00000002326
| Domain | Start | End | E-Value | Type |
|---|
|
IMPDH
|
8 |
347 |
7.5e-147 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007733
|
| SMART Domains |
Protein: ENSMUSP00000007733
Gene: ENSMUSG00000007589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TINF2_N
|
20 |
159 |
1.8e-41 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000226314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226787
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227178
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228683
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228414
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl4 |
A |
G |
X: 141,126,325 (GRCm39) |
C303R |
probably damaging |
Het |
| Als2 |
C |
T |
1: 59,254,731 (GRCm39) |
G209S |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,635,467 (GRCm39) |
T56A |
possibly damaging |
Het |
| Arnt |
T |
A |
3: 95,394,579 (GRCm39) |
I381N |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,252,653 (GRCm39) |
|
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,830,268 (GRCm39) |
T21S |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,420,229 (GRCm39) |
Y138C |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,198,826 (GRCm39) |
T753A |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,029,047 (GRCm39) |
M561T |
probably benign |
Het |
| Dsc3 |
C |
A |
18: 20,118,688 (GRCm39) |
G259C |
probably null |
Het |
| Enox2 |
A |
T |
X: 48,129,484 (GRCm39) |
D346E |
probably benign |
Het |
| Exoc3l |
T |
C |
8: 106,017,130 (GRCm39) |
E619G |
probably benign |
Het |
| Exosc9 |
T |
C |
3: 36,617,415 (GRCm39) |
|
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,931,267 (GRCm39) |
E289G |
probably damaging |
Het |
| H3c1 |
G |
A |
13: 23,946,014 (GRCm39) |
T108I |
probably damaging |
Het |
| Jmy |
A |
G |
13: 93,590,510 (GRCm39) |
V531A |
probably damaging |
Het |
| Lamp2 |
T |
C |
X: 37,524,350 (GRCm39) |
N156S |
probably benign |
Het |
| Lrrn1 |
C |
A |
6: 107,546,261 (GRCm39) |
N686K |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,810,070 (GRCm39) |
V580A |
possibly damaging |
Het |
| Ms4a8a |
C |
A |
19: 11,056,808 (GRCm39) |
L91F |
probably benign |
Het |
| Naip2 |
A |
G |
13: 100,298,099 (GRCm39) |
F646L |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,474,662 (GRCm39) |
V818A |
probably benign |
Het |
| Or2w4 |
A |
T |
13: 21,795,521 (GRCm39) |
I206N |
probably damaging |
Het |
| Padi3 |
C |
A |
4: 140,516,254 (GRCm39) |
R542L |
possibly damaging |
Het |
| Pid1 |
A |
G |
1: 84,016,227 (GRCm39) |
V46A |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 175,803,039 (GRCm39) |
C409S |
probably damaging |
Het |
| Plet1 |
A |
G |
9: 50,410,523 (GRCm39) |
T105A |
possibly damaging |
Het |
| Polrmt |
T |
C |
10: 79,573,431 (GRCm39) |
|
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,822,667 (GRCm39) |
N133S |
probably benign |
Het |
| Prpf40b |
G |
T |
15: 99,204,419 (GRCm39) |
V228L |
probably benign |
Het |
| Ptgfrn |
A |
T |
3: 100,980,161 (GRCm39) |
M393K |
probably benign |
Het |
| Slc9a1 |
C |
T |
4: 133,143,762 (GRCm39) |
T416I |
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,413,721 (GRCm39) |
S950P |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,241 (GRCm39) |
V490D |
probably damaging |
Het |
| Th |
T |
C |
7: 142,450,763 (GRCm39) |
Y131C |
probably benign |
Het |
| Tlr6 |
A |
G |
5: 65,110,855 (GRCm39) |
L684P |
probably damaging |
Het |
| Tpm3 |
A |
G |
3: 89,997,165 (GRCm39) |
E234G |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,824,319 (GRCm39) |
Y1045H |
probably benign |
Het |
| Txnl4b |
T |
A |
8: 110,295,707 (GRCm39) |
V37D |
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,275,822 (GRCm39) |
F194I |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,940,726 (GRCm39) |
E412K |
possibly damaging |
Het |
| Usp46 |
A |
T |
5: 74,163,903 (GRCm39) |
L251Q |
possibly damaging |
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 |
|
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 |
|
|
R2904:Gmpr2
|
UTSW |
14 |
55,910,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation