Incidental Mutation 'R4154:Pgk2'
| ID |
315061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgk2
|
| Ensembl Gene |
ENSMUSG00000031233 |
| Gene Name |
phosphoglycerate kinase 2 |
| Synonyms |
Tcp-2, Tcp-2, Pgk-2 |
| MMRRC Submission |
040998-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R4154 (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: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (51/52) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI593442 |
A |
T |
9: 52,589,204 (GRCm39) |
H124Q |
probably benign |
Het |
| Asph |
C |
T |
4: 9,639,250 (GRCm39) |
W38* |
probably null |
Het |
| Bicdl2 |
A |
G |
17: 23,885,066 (GRCm39) |
|
probably null |
Het |
| Chd8 |
T |
C |
14: 52,444,668 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,297,833 (GRCm39) |
N67D |
probably benign |
Het |
| Cptp |
A |
G |
4: 155,951,657 (GRCm39) |
V12A |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,545,272 (GRCm39) |
I145V |
probably benign |
Het |
| Ctsc |
G |
A |
7: 87,948,755 (GRCm39) |
M195I |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Fas |
T |
G |
19: 34,296,228 (GRCm39) |
I180S |
possibly damaging |
Het |
| Fsip2 |
A |
C |
2: 82,817,413 (GRCm39) |
E4382A |
possibly damaging |
Het |
| Galnt5 |
T |
G |
2: 57,888,505 (GRCm39) |
L35R |
probably damaging |
Het |
| Gfpt2 |
G |
A |
11: 49,726,605 (GRCm39) |
|
probably null |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,636,872 (GRCm39) |
H110L |
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,790,167 (GRCm39) |
V211A |
probably benign |
Het |
| Gsc2 |
TGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAG |
16: 17,732,666 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
T |
12: 115,722,017 (GRCm39) |
M7K |
probably benign |
Het |
| Igkv12-44 |
C |
T |
6: 69,791,639 (GRCm39) |
C108Y |
possibly damaging |
Het |
| Lum |
T |
C |
10: 97,404,815 (GRCm39) |
S237P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,606 (GRCm39) |
K3052E |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,707,475 (GRCm39) |
E1588G |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,126,902 (GRCm39) |
T172A |
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Pard3 |
G |
T |
8: 128,200,877 (GRCm39) |
R978L |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,086,639 (GRCm39) |
|
probably null |
Het |
| Pik3c3 |
G |
A |
18: 30,444,336 (GRCm39) |
M516I |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,043,845 (GRCm39) |
F1336L |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l1 |
G |
C |
12: 82,471,988 (GRCm39) |
G1323R |
possibly damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,626,107 (GRCm39) |
K1153R |
probably benign |
Het |
| Strn3 |
C |
T |
12: 51,673,914 (GRCm39) |
V566M |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,069,068 (GRCm39) |
F2906S |
possibly damaging |
Het |
| Tbc1d8 |
C |
T |
1: 39,425,216 (GRCm39) |
V545M |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,595 (GRCm39) |
S157P |
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
| Vat1l |
G |
C |
8: 114,932,543 (GRCm39) |
G30R |
possibly 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 |
| 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 |
|
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 |
|
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'- AGAGTAGACTTCAACGTTCCCATG -3'
Sequencing Primer
(F):5'- AAGGCTTCTACTTTAGCAGGGTCAG -3'
(R):5'- TTCAACGTTCCCATGAAGAATAAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation