Incidental Mutation 'R1297:Pgk2'
ID |
158197 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pgk2
|
Ensembl Gene |
ENSMUSG00000031233 |
Gene Name |
phosphoglycerate kinase 2 |
Synonyms |
Tcp-2, Tcp-2, Pgk-2 |
MMRRC Submission |
039363-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
R1297 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
40517909-40519500 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 40519255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 58
(V58L)
|
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 benign
Transcript: ENSMUST00000033585
AA Change: V58L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000033585 Gene: ENSMUSG00000031233 AA Change: V58L
Domain | Start | End | E-Value | Type |
Pfam:PGK
|
9 |
406 |
1.3e-152 |
PFAM |
|
Meta Mutation Damage Score |
0.3627 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.8%
|
Validation Efficiency |
100% (37/37) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp1 |
A |
G |
11: 5,820,834 (GRCm39) |
N542D |
possibly damaging |
Het |
Ap2b1 |
T |
A |
11: 83,223,935 (GRCm39) |
W217R |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,374,962 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
A |
4: 63,183,868 (GRCm39) |
|
probably benign |
Het |
Cyp2d12 |
A |
T |
15: 82,441,887 (GRCm39) |
H109L |
probably benign |
Het |
Dnah17 |
T |
C |
11: 118,012,192 (GRCm39) |
|
probably benign |
Het |
Golga3 |
G |
A |
5: 110,352,709 (GRCm39) |
A867T |
probably benign |
Het |
Gstt4 |
T |
A |
10: 75,653,133 (GRCm39) |
N143I |
possibly damaging |
Het |
Hdac2 |
G |
A |
10: 36,862,370 (GRCm39) |
R78Q |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,750,378 (GRCm39) |
I1241T |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,836,868 (GRCm39) |
K2249R |
probably damaging |
Het |
Klrg1 |
T |
A |
6: 122,250,538 (GRCm39) |
I138F |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,639,345 (GRCm39) |
V1328A |
probably benign |
Het |
Mettl25 |
T |
C |
10: 105,659,126 (GRCm39) |
S386G |
probably benign |
Het |
Nme2 |
A |
T |
11: 93,842,782 (GRCm39) |
N210K |
possibly damaging |
Het |
Pgap1 |
T |
C |
1: 54,567,682 (GRCm39) |
S388G |
possibly damaging |
Het |
Phf11 |
A |
T |
14: 59,495,996 (GRCm39) |
H39Q |
probably benign |
Het |
Pou6f1 |
T |
A |
15: 100,476,186 (GRCm39) |
T292S |
probably damaging |
Het |
Rbm5 |
G |
A |
9: 107,621,441 (GRCm39) |
R15C |
probably damaging |
Het |
Rnf215 |
T |
C |
11: 4,089,806 (GRCm39) |
V273A |
possibly damaging |
Het |
Rras |
A |
G |
7: 44,670,003 (GRCm39) |
D145G |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,891,265 (GRCm39) |
|
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,257,187 (GRCm39) |
|
probably benign |
Het |
Sp5 |
A |
G |
2: 70,306,873 (GRCm39) |
D186G |
probably benign |
Het |
Thada |
A |
G |
17: 84,559,863 (GRCm39) |
|
probably benign |
Het |
Tle1 |
A |
G |
4: 72,043,075 (GRCm39) |
V598A |
probably damaging |
Het |
Tnrc6c |
A |
G |
11: 117,624,529 (GRCm39) |
N947S |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,929,140 (GRCm39) |
S2728P |
probably damaging |
Het |
Vmn1r13 |
A |
G |
6: 57,187,392 (GRCm39) |
R184G |
probably damaging |
Het |
Wdr24 |
C |
T |
17: 26,046,322 (GRCm39) |
T522I |
possibly damaging |
Het |
Zfyve16 |
A |
G |
13: 92,658,840 (GRCm39) |
V357A |
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 |
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 |
R4152:Pgk2
|
UTSW |
17 |
40,519,149 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCTTCTACTTTAGCAGGGTCAGCAC -3'
(R):5'- CTTTGAACTCACAAAGAAAGGCGGG -3'
Sequencing Primer
(F):5'- CTTTAGCAGGGTCAGCACTAATC -3'
(R):5'- GTGCATACCATCAAGATGGCTC -3'
|
Posted On |
2014-02-18 |