Incidental Mutation 'R6200:G6pd2'
| ID |
503143 |
| 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 |
044340-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
61966186-61967820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61967214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 330
(R330C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053876]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053876
AA Change: R330C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: R330C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
91% (32/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,977,834 (GRCm39) |
H2719R |
probably damaging |
Het |
| Atraid |
A |
G |
5: 31,210,210 (GRCm39) |
N127D |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,007,324 (GRCm39) |
V145A |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,939,124 (GRCm39) |
N666D |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,682,073 (GRCm39) |
R174S |
probably damaging |
Het |
| Cldn17 |
A |
C |
16: 88,303,459 (GRCm39) |
L90R |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fancc |
A |
C |
13: 63,508,062 (GRCm39) |
L158V |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,730,927 (GRCm39) |
L60P |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,404,227 (GRCm39) |
N333I |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,062,130 (GRCm39) |
Y45H |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,950,045 (GRCm39) |
Y868C |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
| Luzp1 |
C |
A |
4: 136,268,577 (GRCm39) |
Q267K |
probably benign |
Het |
| Nkpd1 |
C |
A |
7: 19,258,528 (GRCm39) |
A769E |
possibly damaging |
Het |
| Or5p58 |
AACTCTGTCACT |
AACT |
7: 107,694,732 (GRCm39) |
|
probably null |
Het |
| Pabpc4l |
C |
A |
3: 46,401,138 (GRCm39) |
V169L |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,135 (GRCm39) |
N381D |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,263,374 (GRCm39) |
N372Y |
possibly damaging |
Het |
| Ppp1r21 |
C |
T |
17: 88,876,613 (GRCm39) |
T475M |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,139,776 (GRCm39) |
|
probably null |
Het |
| Psip1 |
T |
C |
4: 83,392,610 (GRCm39) |
K100E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,053,111 (GRCm39) |
H1096R |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Slc16a8 |
C |
T |
15: 79,137,137 (GRCm39) |
G91D |
probably damaging |
Het |
| Slc22a21 |
A |
T |
11: 53,848,864 (GRCm39) |
I296N |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,696,607 (GRCm39) |
D224G |
probably benign |
Het |
| Tle2 |
G |
A |
10: 81,424,706 (GRCm39) |
V678M |
probably damaging |
Het |
| Tmc1 |
C |
T |
19: 20,766,954 (GRCm39) |
R749Q |
possibly damaging |
Het |
| Tmco3 |
T |
A |
8: 13,342,077 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
A |
G |
11: 87,652,529 (GRCm39) |
E101G |
possibly damaging |
Het |
| Zfp57 |
A |
T |
17: 37,321,303 (GRCm39) |
T386S |
probably benign |
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 |
|
R2918:G6pd2
|
UTSW |
5 |
61,966,869 (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 |
|
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'- GATGTTATGCAGAGCCACCTCC -3'
(R):5'- CCAGCTCATTACGCTTGCAC -3'
Sequencing Primer
(F):5'- AGCCACCTCCTGCAGATGTTG -3'
(R):5'- CATTACGCTTGCACTTCTGGTGG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation