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) question?
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

DomainStartEndE-ValueType
Pfam:PGK 9 406 1.3e-152 PFAM
Meta Mutation Damage Score 0.3627 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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