Incidental Mutation 'R2918:G6pd2'
ID |
255366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
G6pd2
|
Ensembl Gene |
ENSMUSG00000089992 |
Gene Name |
glucose-6-phosphate dehydrogenase 2 |
Synonyms |
G6pdx-ps1, Gpd-2, Gpd2 |
MMRRC Submission |
040503-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2918 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
61966186-61967820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 61966869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 215
(R215G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053876]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053876
AA Change: R215G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131163 Gene: ENSMUSG00000089992 AA Change: R215G
Domain | Start | End | E-Value | Type |
Pfam:G6PD_N
|
35 |
210 |
4.1e-60 |
PFAM |
Pfam:G6PD_C
|
212 |
504 |
9.9e-119 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd5 |
A |
G |
2: 22,989,579 (GRCm39) |
N401D |
probably benign |
Het |
Agtpbp1 |
T |
A |
13: 59,644,829 (GRCm39) |
D679V |
possibly damaging |
Het |
Akap8 |
A |
G |
17: 32,524,622 (GRCm39) |
V558A |
probably benign |
Het |
Arrdc2 |
C |
T |
8: 71,290,171 (GRCm39) |
R170Q |
probably benign |
Het |
Atg10 |
A |
T |
13: 91,189,027 (GRCm39) |
H94Q |
probably damaging |
Het |
Atg4a-ps |
G |
A |
3: 103,552,837 (GRCm39) |
A168V |
probably damaging |
Het |
Crb2 |
G |
T |
2: 37,673,395 (GRCm39) |
R97L |
probably benign |
Het |
Dnaja1 |
C |
T |
4: 40,724,052 (GRCm39) |
A71V |
possibly damaging |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Hcn3 |
A |
G |
3: 89,054,920 (GRCm39) |
S776P |
probably benign |
Het |
Ift140 |
C |
A |
17: 25,254,805 (GRCm39) |
N159K |
possibly damaging |
Het |
Mafa |
A |
G |
15: 75,619,147 (GRCm39) |
S209P |
probably benign |
Het |
Mug2 |
A |
G |
6: 122,051,683 (GRCm39) |
|
probably null |
Het |
Myh14 |
T |
C |
7: 44,265,687 (GRCm39) |
D1564G |
possibly damaging |
Het |
Ncor2 |
T |
A |
5: 125,102,824 (GRCm39) |
I1792F |
probably damaging |
Het |
Nod2 |
T |
C |
8: 89,379,519 (GRCm39) |
F7L |
probably benign |
Het |
Odad2 |
G |
A |
18: 7,222,625 (GRCm39) |
S548L |
probably benign |
Het |
Or10d5 |
A |
G |
9: 39,861,660 (GRCm39) |
S136P |
probably benign |
Het |
Or1m1 |
T |
A |
9: 18,666,775 (GRCm39) |
D52V |
probably damaging |
Het |
Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
Pak3 |
T |
C |
X: 142,547,972 (GRCm39) |
V318A |
probably damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,290,970 (GRCm39) |
T521A |
probably benign |
Het |
Pkdcc |
G |
C |
17: 83,523,378 (GRCm39) |
A162P |
probably benign |
Het |
Rassf4 |
A |
G |
6: 116,618,701 (GRCm39) |
V194A |
probably damaging |
Het |
Scp2d1 |
T |
A |
2: 144,665,868 (GRCm39) |
I69N |
probably damaging |
Het |
Spg11 |
A |
G |
2: 121,905,782 (GRCm39) |
S1288P |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,645,532 (GRCm39) |
S2019P |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,021,004 (GRCm39) |
L630* |
probably null |
Het |
Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
Trpc1 |
C |
T |
9: 95,605,182 (GRCm39) |
R159H |
probably damaging |
Het |
Zbtb14 |
C |
T |
17: 69,695,214 (GRCm39) |
P304L |
probably damaging |
Het |
|
Other mutations in G6pd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01118:G6pd2
|
APN |
5 |
61,967,406 (GRCm39) |
missense |
probably benign |
|
IGL01329:G6pd2
|
APN |
5 |
61,967,281 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02072:G6pd2
|
APN |
5 |
61,966,753 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02502:G6pd2
|
APN |
5 |
61,966,971 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02800:G6pd2
|
APN |
5 |
61,966,735 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03012:G6pd2
|
APN |
5 |
61,966,816 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03085:G6pd2
|
APN |
5 |
61,967,645 (GRCm39) |
missense |
probably benign |
|
R0505:G6pd2
|
UTSW |
5 |
61,966,910 (GRCm39) |
missense |
probably benign |
|
R0632:G6pd2
|
UTSW |
5 |
61,967,514 (GRCm39) |
missense |
probably benign |
|
R0658:G6pd2
|
UTSW |
5 |
61,967,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R1399:G6pd2
|
UTSW |
5 |
61,967,361 (GRCm39) |
missense |
probably benign |
0.02 |
R1918:G6pd2
|
UTSW |
5 |
61,967,664 (GRCm39) |
missense |
probably benign |
|
R2077:G6pd2
|
UTSW |
5 |
61,967,594 (GRCm39) |
missense |
probably damaging |
0.97 |
R2338:G6pd2
|
UTSW |
5 |
61,967,351 (GRCm39) |
missense |
probably benign |
|
R2566:G6pd2
|
UTSW |
5 |
61,966,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R3963:G6pd2
|
UTSW |
5 |
61,966,228 (GRCm39) |
start codon destroyed |
probably null |
0.50 |
R4399:G6pd2
|
UTSW |
5 |
61,967,516 (GRCm39) |
missense |
probably benign |
0.01 |
R4469:G6pd2
|
UTSW |
5 |
61,966,288 (GRCm39) |
missense |
probably benign |
|
R4560:G6pd2
|
UTSW |
5 |
61,967,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4563:G6pd2
|
UTSW |
5 |
61,967,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4914:G6pd2
|
UTSW |
5 |
61,967,672 (GRCm39) |
nonsense |
probably null |
|
R5106:G6pd2
|
UTSW |
5 |
61,967,695 (GRCm39) |
missense |
probably benign |
|
R5242:G6pd2
|
UTSW |
5 |
61,966,785 (GRCm39) |
missense |
probably benign |
0.00 |
R5838:G6pd2
|
UTSW |
5 |
61,966,568 (GRCm39) |
missense |
probably benign |
|
R6131:G6pd2
|
UTSW |
5 |
61,966,593 (GRCm39) |
missense |
probably benign |
0.03 |
R6200:G6pd2
|
UTSW |
5 |
61,967,214 (GRCm39) |
missense |
probably benign |
0.00 |
R7009:G6pd2
|
UTSW |
5 |
61,966,234 (GRCm39) |
missense |
probably benign |
0.00 |
R7337:G6pd2
|
UTSW |
5 |
61,967,562 (GRCm39) |
missense |
probably benign |
0.13 |
R9694:G6pd2
|
UTSW |
5 |
61,966,460 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTCTATGAAGCAGTCACCAAG -3'
(R):5'- GGTAGCAGGCTTTTCCATGG -3'
Sequencing Primer
(F):5'- TTCAAGAGACCTGCATGAGTC -3'
(R):5'- GGCTTTTCCATGGCCACCAG -3'
|
Posted On |
2014-12-29 |