Incidental Mutation 'R5691:Pgam5'
ID 443678
Institutional Source Beutler Lab
Gene Symbol Pgam5
Ensembl Gene ENSMUSG00000029500
Gene Name phosphoglycerate mutase family member 5
Synonyms 2610528A17Rik
MMRRC Submission 043324-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5691 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110407001-110417765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110414959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 85 (P85S)
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: P121S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000057760
Gene: ENSMUSG00000029500
AA Change: P121S

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PGAM 98 235 7.26e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112505
AA Change: P121S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108124
Gene: ENSMUSG00000029500
AA Change: P121S

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 damaging
Transcript: ENSMUST00000196381
AA Change: P85S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143477
Gene: ENSMUSG00000029500
AA Change: P85S

DomainStartEndE-ValueType
Pfam:His_Phos_1 62 178 6.4e-14 PFAM
Meta Mutation Damage Score 0.1060 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (60/61)
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
2410022M11Rik A G 14: 57,049,830 (GRCm39) probably benign Het
Abcb5 A T 12: 118,890,970 (GRCm39) M509K probably damaging Het
Ap4m1 A G 5: 138,170,653 (GRCm39) Y34C probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Bcl10 C T 3: 145,638,904 (GRCm39) T182I probably benign Het
Cdc123 T A 2: 5,827,986 (GRCm39) N87I probably benign Het
Cfap46 T C 7: 139,186,616 (GRCm39) E2431G possibly damaging Het
Dcc T C 18: 71,708,154 (GRCm39) T521A probably damaging Het
Defb46 T A 8: 19,292,149 (GRCm39) I55K probably benign Het
Dlgap4 A G 2: 156,546,390 (GRCm39) T353A probably benign Het
Eqtn C A 4: 94,811,965 (GRCm39) probably null Het
Ermn A T 2: 57,937,776 (GRCm39) M279K probably damaging Het
Fan1 C A 7: 64,004,118 (GRCm39) probably null Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Hectd4 A G 5: 121,486,878 (GRCm39) D3291G possibly damaging Het
Hid1 A G 11: 115,239,645 (GRCm39) W762R probably damaging Het
Idi2l A T 13: 8,992,693 (GRCm39) Y91* probably null Het
Ifi207 A G 1: 173,559,992 (GRCm39) I160T unknown Het
Inpp4b T A 8: 82,617,323 (GRCm39) probably benign Het
Iqcd C T 5: 120,740,571 (GRCm39) Q301* probably null Het
Jph1 T G 1: 17,074,587 (GRCm39) Q477P probably benign Het
Kdm4c A T 4: 74,252,965 (GRCm39) I511L probably benign Het
Lrp2 T C 2: 69,332,897 (GRCm39) D1540G probably damaging Het
Lrrc69 T A 4: 14,769,648 (GRCm39) I168F probably damaging Het
Mgat4e A T 1: 134,468,729 (GRCm39) probably benign Het
Mroh7 C A 4: 106,559,815 (GRCm39) G704V probably damaging Het
Nadsyn1 C T 7: 143,366,316 (GRCm39) probably null Het
Ncoa2 A T 1: 13,250,774 (GRCm39) C303S probably damaging Het
Nova1 T C 12: 46,863,738 (GRCm39) T71A unknown Het
Nrcam T C 12: 44,611,039 (GRCm39) Y554H probably damaging Het
Nubpl G A 12: 52,152,059 (GRCm39) probably benign Het
Oasl2 C A 5: 115,037,828 (GRCm39) T75K possibly damaging Het
Or8h9 A T 2: 86,789,616 (GRCm39) F62Y probably damaging Het
P3h3 C T 6: 124,832,116 (GRCm39) G257R probably damaging Het
Parp14 A G 16: 35,683,909 (GRCm39) V139A probably benign Het
Phpt1 T C 2: 25,463,707 (GRCm39) Y96C probably damaging Het
Plekhm2 A C 4: 141,355,600 (GRCm39) S867A possibly damaging Het
Pramel26 A T 4: 143,538,579 (GRCm39) W131R probably benign Het
Prss21 A G 17: 24,087,759 (GRCm39) probably null Het
Rabgap1l A T 1: 160,563,254 (GRCm39) Y108N probably damaging Het
Riox1 C T 12: 83,998,466 (GRCm39) T334I possibly damaging Het
Rps3a2 G T 14: 88,360,483 (GRCm39) noncoding transcript Het
Selenot C T 3: 58,493,447 (GRCm39) A108V probably benign Het
Setd3 A T 12: 108,126,544 (GRCm39) M98K probably benign Het
Slc22a27 T C 19: 7,904,035 (GRCm39) H34R possibly damaging Het
Slco1a8 A T 6: 141,940,581 (GRCm39) Y93* probably null Het
Sp3 A G 2: 72,801,803 (GRCm39) L70S probably damaging Het
Syne2 TCCAGGTAGGGCACACC TCC 12: 76,074,630 (GRCm39) probably null Het
Tcl1b4 C A 12: 105,168,806 (GRCm39) D23E possibly damaging Het
Tespa1 T A 10: 130,190,638 (GRCm39) probably null Het
Tmc7 T C 7: 118,141,116 (GRCm39) I672V probably benign Het
Trps1 T A 15: 50,690,700 (GRCm39) Q14L probably benign Het
Vmn2r73 A G 7: 85,507,299 (GRCm39) V671A probably damaging Het
Zfp106 G A 2: 120,354,952 (GRCm39) S1273F probably damaging Het
Zfp90 C A 8: 107,151,710 (GRCm39) Y474* probably null Het
Other mutations in Pgam5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Pgam5 APN 5 110,413,391 (GRCm39) missense probably damaging 1.00
R0839:Pgam5 UTSW 5 110,414,996 (GRCm39) missense probably benign 0.11
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
R9193:Pgam5 UTSW 5 110,413,466 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- CCACCTACTTGGGAAGCAAG -3'
(R):5'- ACTGAAAGGTGTCTTGGACAAG -3'

Sequencing Primer
(F):5'- CTACTTGGGAAGCAAGGCAGG -3'
(R):5'- GACATACTTTTACAATTAGGCGAGAG -3'
Posted On 2016-11-09