Incidental Mutation 'R0839:Pgam5'
ID 78096
Institutional Source Beutler Lab
Gene Symbol Pgam5
Ensembl Gene ENSMUSG00000029500
Gene Name phosphoglycerate mutase family member 5
Synonyms 2610528A17Rik
MMRRC Submission 039018-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0839 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 110407001-110417765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110414996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 72 (H72Q)
Ref Sequence ENSEMBL: ENSMUSP00000143477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059229] [ENSMUST00000112505] [ENSMUST00000196381]
AlphaFold Q8BX10
Predicted Effect probably benign
Transcript: ENSMUST00000059229
AA Change: H108Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057760
Gene: ENSMUSG00000029500
AA Change: H108Q

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PGAM 98 235 7.26e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112505
AA Change: H108Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108124
Gene: ENSMUSG00000029500
AA Change: H108Q

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PGAM 98 236 7.26e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181048
Predicted Effect probably benign
Transcript: ENSMUST00000196381
AA Change: H72Q

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143477
Gene: ENSMUSG00000029500
AA Change: H72Q

DomainStartEndE-ValueType
Pfam:His_Phos_1 62 178 6.4e-14 PFAM
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show Parkinson-like movement, dopaminergic neuron loss, and altered mitochondrial homeostasis. Homozygotes for a different null allele are smaller, with males born at sub-Mendelian ratios. Macrophages show impaired inflammasome activation and IL-1beta secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,920,527 (GRCm39) V1083M probably damaging Het
Aco2 A G 15: 81,791,736 (GRCm39) probably null Het
AI661453 A T 17: 47,747,752 (GRCm39) Q8L probably null Het
Ankrd42 T C 7: 92,261,980 (GRCm39) D295G possibly damaging Het
Ccdc73 A T 2: 104,821,442 (GRCm39) I464L probably benign Het
Cdc5l A C 17: 45,704,073 (GRCm39) M717R probably benign Het
Col4a1 G A 8: 11,271,015 (GRCm39) P809S probably damaging Het
Dctn1 T C 6: 83,167,459 (GRCm39) M358T possibly damaging Het
Dgkz A G 2: 91,765,456 (GRCm39) S799P probably benign Het
Dna2 T C 10: 62,805,561 (GRCm39) C933R probably damaging Het
Dock6 T C 9: 21,729,188 (GRCm39) N1275S probably benign Het
Ect2l A G 10: 18,017,652 (GRCm39) I659T probably benign Het
Ets1 T A 9: 32,645,357 (GRCm39) Y201* probably null Het
Gle1 T A 2: 29,848,462 (GRCm39) C679S probably benign Het
Gm10118 T G 10: 63,762,643 (GRCm39) probably benign Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
H2-Q7 A G 17: 35,658,688 (GRCm39) S109G probably damaging Het
Igfn1 A G 1: 135,882,418 (GRCm39) V2809A probably damaging Het
Izumo1 T A 7: 45,276,536 (GRCm39) D366E probably benign Het
Kctd20 A T 17: 29,176,872 (GRCm39) M1L possibly damaging Het
Lct C T 1: 128,214,346 (GRCm39) A1809T probably benign Het
Manea T C 4: 26,327,983 (GRCm39) I353V probably damaging Het
Mybl2 T C 2: 162,917,688 (GRCm39) Y65H probably benign Het
Myh11 C T 16: 14,021,042 (GRCm39) E1744K probably damaging Het
Neb T C 2: 52,167,560 (GRCm39) D1922G probably damaging Het
Nepro C A 16: 44,556,382 (GRCm39) D513E probably benign Het
Nnt A T 13: 119,531,192 (GRCm39) I185K possibly damaging Het
Npat A T 9: 53,456,480 (GRCm39) Q17L probably damaging Het
Nup155 A G 15: 8,175,071 (GRCm39) E956G possibly damaging Het
Or1e35 T A 11: 73,798,138 (GRCm39) Y60F probably damaging Het
Or1x6 A G 11: 50,939,254 (GRCm39) I107V probably benign Het
Or2a14 T A 6: 43,130,558 (GRCm39) F106L probably benign Het
Or4q3 A G 14: 50,583,545 (GRCm39) V118A probably damaging Het
Or8g18 A T 9: 39,149,146 (GRCm39) N191K possibly damaging Het
Or8g4 A T 9: 39,661,687 (GRCm39) I2L probably benign Het
Or9e1 G A 11: 58,732,478 (GRCm39) M179I probably benign Het
Pah T C 10: 87,357,924 (GRCm39) S16P probably damaging Het
Pcdh15 C A 10: 74,462,614 (GRCm39) P1365Q probably null Het
Pds5b G T 5: 150,688,427 (GRCm39) V640F probably benign Het
Plagl2 C A 2: 153,074,461 (GRCm39) A147S probably damaging Het
Ppfia4 A T 1: 134,256,545 (GRCm39) L113Q probably null Het
Ppp1r12a T C 10: 108,034,722 (GRCm39) V89A probably damaging Het
Ptprc A G 1: 138,028,870 (GRCm39) Y443H possibly damaging Het
Ralgapb T C 2: 158,315,203 (GRCm39) probably null Het
Rgsl1 A G 1: 153,677,980 (GRCm39) probably null Het
Rubcn A C 16: 32,647,713 (GRCm39) I681M probably damaging Het
Scaf11 A G 15: 96,321,434 (GRCm39) L169S probably damaging Het
Scgb1b27 A G 7: 33,721,276 (GRCm39) K55E probably benign Het
Sos1 A T 17: 80,741,159 (GRCm39) I542N probably damaging Het
Syf2 T A 4: 134,663,374 (GRCm39) V182D probably damaging Het
Tapbp T C 17: 34,144,717 (GRCm39) V271A probably benign Het
Tmem33 T A 5: 67,421,651 (GRCm39) L60Q probably damaging Het
Tmf1 A G 6: 97,153,284 (GRCm39) V263A probably damaging Het
Vps13c T C 9: 67,806,020 (GRCm39) V798A probably benign Het
Zfp384 C A 6: 125,013,631 (GRCm39) D550E probably benign Het
Other mutations in Pgam5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Pgam5 APN 5 110,413,391 (GRCm39) missense probably damaging 1.00
R2192:Pgam5 UTSW 5 110,413,785 (GRCm39) missense probably damaging 0.99
R2508:Pgam5 UTSW 5 110,413,869 (GRCm39) missense probably damaging 1.00
R3772:Pgam5 UTSW 5 110,413,459 (GRCm39) missense probably damaging 1.00
R3873:Pgam5 UTSW 5 110,413,465 (GRCm39) missense probably damaging 1.00
R4900:Pgam5 UTSW 5 110,408,301 (GRCm39) missense probably damaging 0.99
R4929:Pgam5 UTSW 5 110,413,691 (GRCm39) missense probably damaging 1.00
R5195:Pgam5 UTSW 5 110,413,854 (GRCm39) nonsense probably null
R5691:Pgam5 UTSW 5 110,414,959 (GRCm39) missense probably damaging 0.99
R9193:Pgam5 UTSW 5 110,413,466 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- TCACCACCATGCTGAAAGGTAGGAG -3'
(R):5'- TCACCAGGAACATGAACCTGAGGC -3'

Sequencing Primer
(F):5'- CTGAAAGGTAGGAGGGGGAG -3'
(R):5'- AGAGCGAGCCTAGCCTTTTC -3'
Posted On 2013-10-16