Incidental Mutation 'R4152:Pgk2'
| ID |
314971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgk2
|
| Ensembl Gene |
ENSMUSG00000031233 |
| Gene Name |
phosphoglycerate kinase 2 |
| Synonyms |
Tcp-2, Tcp-2, Pgk-2 |
| MMRRC Submission |
040996-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R4152 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
40517909-40519500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40519149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 93
(V93A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033585]
|
| AlphaFold |
P09041 |
| PDB Structure |
Crystal Structure of Phosphoglycerate Kinase-2 [X-RAY DIFFRACTION]
Crystal Structure of Phosphoglycerate Kinase-2 bound to 3-phosphoglycerate [X-RAY DIFFRACTION]
Crystal structure of phosphoglycerate kinase-2 bound to atp and 3pg [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033585
AA Change: V93A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033585
Gene: ENSMUSG00000031233
AA Change: V93A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGK
|
9 |
406 |
1.3e-152 |
PFAM |
|
| Meta Mutation Damage Score |
0.9148 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased male fertility associated with reduced sperm motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,183,752 (GRCm39) |
M31R |
possibly damaging |
Het |
| Akap6 |
A |
C |
12: 53,187,190 (GRCm39) |
S1535R |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,127,765 (GRCm39) |
I137T |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,812,857 (GRCm39) |
S36G |
probably damaging |
Het |
| Clcn4 |
T |
C |
7: 7,297,833 (GRCm39) |
N67D |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,267,227 (GRCm39) |
|
probably null |
Het |
| Crem |
G |
T |
18: 3,288,055 (GRCm39) |
N179K |
probably damaging |
Het |
| Fam78b |
T |
C |
1: 166,906,369 (GRCm39) |
M176T |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,322 (GRCm39) |
H2036Q |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,751,413 (GRCm39) |
|
probably null |
Het |
| Gm6483 |
T |
C |
8: 19,737,926 (GRCm39) |
|
noncoding transcript |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,789,973 (GRCm39) |
F81S |
probably benign |
Het |
| Lpgat1 |
C |
A |
1: 191,451,600 (GRCm39) |
Y36* |
probably null |
Het |
| Mavs |
A |
G |
2: 131,088,528 (GRCm39) |
D444G |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nemp2 |
A |
G |
1: 52,680,210 (GRCm39) |
S145G |
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Or7g20 |
T |
A |
9: 18,946,816 (GRCm39) |
Y132* |
probably null |
Het |
| Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,823,514 (GRCm39) |
C92* |
probably null |
Het |
| Phf3 |
C |
T |
1: 30,870,539 (GRCm39) |
V116I |
probably benign |
Het |
| Prl8a2 |
T |
C |
13: 27,534,985 (GRCm39) |
Y86H |
possibly damaging |
Het |
| Rab4b |
T |
C |
7: 26,875,551 (GRCm39) |
|
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,439,449 (GRCm39) |
|
probably benign |
Het |
| Sim1 |
G |
A |
10: 50,859,950 (GRCm39) |
C604Y |
probably damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,696 (GRCm39) |
L251* |
probably null |
Het |
| Slit3 |
A |
G |
11: 35,589,147 (GRCm39) |
N1234S |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Snx31 |
T |
C |
15: 36,525,785 (GRCm39) |
N305D |
probably benign |
Het |
| St14 |
T |
C |
9: 31,001,802 (GRCm39) |
I768V |
probably benign |
Het |
| Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
| Tlr6 |
A |
C |
5: 65,110,555 (GRCm39) |
F784C |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,836,427 (GRCm39) |
V701A |
probably benign |
Het |
| Tspan15 |
A |
T |
10: 62,025,621 (GRCm39) |
M197K |
possibly damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vegfb |
T |
C |
19: 6,963,446 (GRCm39) |
Y106C |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,730 (GRCm39) |
Q588L |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,654,800 (GRCm39) |
D503G |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,488,913 (GRCm39) |
V161A |
probably benign |
Het |
|
| Other mutations in Pgk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0195:Pgk2
|
UTSW |
17 |
40,518,622 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1297:Pgk2
|
UTSW |
17 |
40,519,255 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1351:Pgk2
|
UTSW |
17 |
40,518,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Pgk2
|
UTSW |
17 |
40,519,398 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2126:Pgk2
|
UTSW |
17 |
40,518,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Pgk2
|
UTSW |
17 |
40,519,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3154:Pgk2
|
UTSW |
17 |
40,519,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4153:Pgk2
|
UTSW |
17 |
40,519,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4154:Pgk2
|
UTSW |
17 |
40,519,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4259:Pgk2
|
UTSW |
17 |
40,518,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4261:Pgk2
|
UTSW |
17 |
40,518,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4812:Pgk2
|
UTSW |
17 |
40,518,281 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4961:Pgk2
|
UTSW |
17 |
40,518,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4989:Pgk2
|
UTSW |
17 |
40,518,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5661:Pgk2
|
UTSW |
17 |
40,518,287 (GRCm39) |
nonsense |
probably null |
|
|
R6246:Pgk2
|
UTSW |
17 |
40,518,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:Pgk2
|
UTSW |
17 |
40,518,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7054:Pgk2
|
UTSW |
17 |
40,519,366 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7721:Pgk2
|
UTSW |
17 |
40,518,409 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8785:Pgk2
|
UTSW |
17 |
40,518,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Pgk2
|
UTSW |
17 |
40,518,687 (GRCm39) |
missense |
probably benign |
|
|
R9057:Pgk2
|
UTSW |
17 |
40,518,735 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9253:Pgk2
|
UTSW |
17 |
40,519,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Pgk2
|
UTSW |
17 |
40,519,078 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9654:Pgk2
|
UTSW |
17 |
40,518,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGATGCTTGGAAGGC -3'
(R):5'- GAGAGTAGACTTCAACGTTCCC -3'
Sequencing Primer
(F):5'- AAGGCTTCTACTTTAGCAGGGTCAG -3'
(R):5'- GAGTAGACTTCAACGTTCCCATGAAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation