Incidental Mutation 'R4961:Pgk2'
ID 381788
Institutional Source Beutler Lab
Gene Symbol Pgk2
Ensembl Gene ENSMUSG00000031233
Gene Name phosphoglycerate kinase 2
Synonyms Tcp-2, Tcp-2, Pgk-2
MMRRC Submission 042558-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R4961 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 40517909-40519500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40518412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 339 (P339S)
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: P339S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033585
Gene: ENSMUSG00000031233
AA Change: P339S

DomainStartEndE-ValueType
Pfam:PGK 9 406 1.3e-152 PFAM
Meta Mutation Damage Score 0.8008 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 88.3%
Validation Efficiency 95% (62/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik T C 5: 139,349,855 (GRCm39) K65E probably damaging Het
Acp5 C A 9: 22,041,233 (GRCm39) A65S probably benign Het
Adad2 G A 8: 120,342,397 (GRCm39) R345H probably damaging Het
Adamts7 G T 9: 90,067,793 (GRCm39) G428W probably damaging Het
Amy1 A G 3: 113,355,498 (GRCm39) S326P probably damaging Het
Ankrd44 C T 1: 54,703,071 (GRCm39) D482N probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano8 G C 8: 71,935,640 (GRCm39) P326R probably damaging Het
Arhgef26 A G 3: 62,367,046 (GRCm39) E793G probably damaging Het
Cd9 A T 6: 125,440,703 (GRCm39) V96E probably damaging Het
Cdh9 A G 15: 16,850,914 (GRCm39) N561S probably benign Het
Col16a1 G A 4: 129,948,272 (GRCm39) probably null Het
Cpne7 G A 8: 123,860,498 (GRCm39) G484R probably damaging Het
Dcun1d4 A T 5: 73,701,463 (GRCm39) K194* probably null Het
Dock3 A G 9: 106,818,515 (GRCm39) V1193A probably damaging Het
Dst A G 1: 34,007,904 (GRCm39) R113G possibly damaging Het
Epha5 A T 5: 84,381,502 (GRCm39) S450T probably damaging Het
Gm5581 A T 6: 131,144,190 (GRCm39) noncoding transcript Het
Grhl3 A G 4: 135,279,918 (GRCm39) Y379H probably damaging Het
Herpud1 T C 8: 95,117,454 (GRCm39) S13P probably benign Het
Jam2 C T 16: 84,606,435 (GRCm39) Q150* probably null Het
Jph2 C G 2: 163,217,668 (GRCm39) R336P probably damaging Het
Kansl3 T A 1: 36,387,764 (GRCm39) probably null Het
Kctd1 G A 18: 15,195,580 (GRCm39) P348S probably damaging Het
Klhl30 T A 1: 91,285,106 (GRCm39) S321T possibly damaging Het
Klhl5 T C 5: 65,310,033 (GRCm39) probably benign Het
Letm2 T C 8: 26,084,108 (GRCm39) H41R possibly damaging Het
Ltn1 A T 16: 87,194,679 (GRCm39) C1407S probably benign Het
Map1b T C 13: 99,572,161 (GRCm39) T187A probably damaging Het
Marveld2 T C 13: 100,748,431 (GRCm39) N216S probably benign Het
Matn1 A G 4: 130,680,234 (GRCm39) Y437C probably damaging Het
Oas1h T C 5: 121,009,159 (GRCm39) Y290H probably damaging Het
Ofcc1 A G 13: 40,417,035 (GRCm39) probably null Het
Or2m12 C A 16: 19,104,726 (GRCm39) G256W probably damaging Het
Or4k51 A T 2: 111,584,750 (GRCm39) D52V probably damaging Het
Or8g34 A G 9: 39,373,183 (GRCm39) Y152C probably damaging Het
Otof C A 5: 30,540,837 (GRCm39) probably benign Het
Pcdh15 G T 10: 74,215,249 (GRCm39) probably null Het
Piezo2 T C 18: 63,186,032 (GRCm39) probably null Het
Prex2 A G 1: 11,168,705 (GRCm39) T234A possibly damaging Het
Rasgrf1 C T 9: 89,826,922 (GRCm39) T177M probably benign Het
Rgs1 A T 1: 144,124,309 (GRCm39) probably null Het
Snx25 T C 8: 46,521,229 (GRCm39) N239S probably damaging Het
Spata31d1a T A 13: 59,849,716 (GRCm39) H804L possibly damaging Het
Spon2 A T 5: 33,371,896 (GRCm39) Y303* probably null Het
Spopfm2 A T 3: 94,082,841 (GRCm39) C323* probably null Het
Thrb G A 14: 18,011,076 (GRCm38) D151N probably benign Het
Tns1 A G 1: 73,975,074 (GRCm39) V1170A probably benign Het
Trbv19 A T 6: 41,155,706 (GRCm39) I26F probably damaging Het
Tstd2 T C 4: 46,120,467 (GRCm39) N311S probably damaging Het
Ttn T A 2: 76,715,746 (GRCm39) probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn1r185 G A 7: 26,310,716 (GRCm39) A263V probably benign Het
Zfp316 T C 5: 143,239,169 (GRCm39) H950R probably damaging Het
Zfp51 A G 17: 21,676,615 (GRCm39) K29E probably benign Het
Zfp644 T C 5: 106,766,081 (GRCm39) probably benign Het
Other mutations in Pgk2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGAAGCTCAAGACTTGCCCC -3'
(R):5'- AGCCACGATTGTTAAAGAGATCATG -3'

Sequencing Primer
(F):5'- CACCTCCTGTGCTCACATGG -3'
(R):5'- TGTTAAAGAGATCATGGAAAAAGCAG -3'
Posted On 2016-04-27