Incidental Mutation 'R4259:Pgk2'
| ID |
322585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgk2
|
| Ensembl Gene |
ENSMUSG00000031233 |
| Gene Name |
phosphoglycerate kinase 2 |
| Synonyms |
Tcp-2, Tcp-2, Pgk-2 |
| MMRRC Submission |
041072-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R4259 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
40517909-40519500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 40518274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 385
(T385P)
|
| 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: T385P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000033585
Gene: ENSMUSG00000031233
AA Change: T385P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PGK
|
9 |
406 |
1.3e-152 |
PFAM |
|
| Meta Mutation Damage Score |
0.5398 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (40/41) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,214,066 (GRCm39) |
S298P |
probably damaging |
Het |
| 4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
| Cd248 |
A |
G |
19: 5,118,866 (GRCm39) |
D238G |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,350,354 (GRCm39) |
E649D |
probably damaging |
Het |
| Cyp2b19 |
G |
A |
7: 26,462,807 (GRCm39) |
G230S |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,520,883 (GRCm39) |
I1901V |
probably benign |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gpr171 |
A |
G |
3: 59,004,948 (GRCm39) |
S276P |
probably damaging |
Het |
| Hap1 |
C |
A |
11: 100,242,668 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
A |
T |
13: 118,111,884 (GRCm39) |
K616M |
unknown |
Het |
| Igkv4-90 |
T |
C |
6: 68,784,461 (GRCm39) |
I18M |
possibly damaging |
Het |
| Itpr3 |
T |
A |
17: 27,325,298 (GRCm39) |
V1297E |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,280,506 (GRCm39) |
N1319D |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,692 (GRCm39) |
E418G |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,059,413 (GRCm39) |
S599P |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,980,512 (GRCm39) |
Y223N |
probably damaging |
Het |
| Or5p57 |
T |
A |
7: 107,665,100 (GRCm39) |
K272* |
probably null |
Het |
| Or8g50 |
A |
T |
9: 39,648,999 (GRCm39) |
D296V |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,343 (GRCm39) |
D180G |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,931,970 (GRCm39) |
D38G |
probably benign |
Het |
| Prl3b1 |
T |
C |
13: 27,427,889 (GRCm39) |
|
probably null |
Het |
| Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,381,330 (GRCm39) |
F501I |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Slc26a1 |
T |
A |
5: 108,820,496 (GRCm39) |
K250N |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,939,686 (GRCm39) |
L150P |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 55,925,867 (GRCm39) |
S1093P |
probably damaging |
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 |
|
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 |
|
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'- TCACTGCTAGCTCATTACCTGGG -3'
(R):5'- AATTGTGGCCCAAGCAAAGC -3'
Sequencing Primer
(F):5'- ACCTGGGTCTTGATTCATAGTAGAG -3'
(R):5'- CCCAAGCAAAGCTGATAGTTTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation