Incidental Mutation 'R3772:Pgam5'
ID 273347
Institutional Source Beutler Lab
Gene Symbol Pgam5
Ensembl Gene ENSMUSG00000029500
Gene Name phosphoglycerate mutase family member 5
Synonyms 2610528A17Rik
MMRRC Submission 040748-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3772 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110407001-110417765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110413459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 176 (H176R)
Ref Sequence ENSEMBL: ENSMUSP00000143477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059229] [ENSMUST00000112505] [ENSMUST00000196381]
AlphaFold Q8BX10
Predicted Effect possibly damaging
Transcript: ENSMUST00000059229
AA Change: H211R

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000057760
Gene: ENSMUSG00000029500
AA Change: H211R

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PGAM 98 235 7.26e-8 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112505
AA Change: H212R

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108124
Gene: ENSMUSG00000029500
AA Change: H212R

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: H176R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143477
Gene: ENSMUSG00000029500
AA Change: H176R

DomainStartEndE-ValueType
Pfam:His_Phos_1 62 178 6.4e-14 PFAM
Meta Mutation Damage Score 0.6876 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,159,720 (GRCm39) probably benign Het
Adgrl1 A G 8: 84,649,633 (GRCm39) N97S possibly damaging Het
Aldh1a2 A G 9: 71,160,202 (GRCm39) D76G probably damaging Het
Aldh3a1 A G 11: 61,105,431 (GRCm39) E179G possibly damaging Het
Ap1g1 A G 8: 110,564,418 (GRCm39) D324G probably damaging Het
Arfgap2 A G 2: 91,095,711 (GRCm39) T12A probably benign Het
Aurka A G 2: 172,208,880 (GRCm39) L85P probably benign Het
Birc6 T A 17: 74,925,424 (GRCm39) probably benign Het
Bmp7 A T 2: 172,712,015 (GRCm39) I403N probably damaging Het
Carns1 A G 19: 4,220,915 (GRCm39) probably benign Het
Ccdc88c G A 12: 100,932,359 (GRCm39) probably benign Het
Ccl2 C T 11: 81,927,784 (GRCm39) A76V probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Clstn2 A G 9: 97,464,615 (GRCm39) I180T probably damaging Het
Col24a1 T C 3: 145,251,041 (GRCm39) L1680P probably damaging Het
Col4a6 C A X: 139,955,196 (GRCm39) G1416C probably damaging Het
Ctnna2 T G 6: 76,950,752 (GRCm39) N573T probably damaging Het
Cts8 G A 13: 61,398,715 (GRCm39) probably benign Het
Cxcl17 A G 7: 25,099,754 (GRCm39) probably benign Het
Defb18 T C 1: 18,306,845 (GRCm39) H37R possibly damaging Het
Dis3l2 T C 1: 86,782,130 (GRCm39) I229T probably benign Het
Dysf G A 6: 84,129,333 (GRCm39) S1474N possibly damaging Het
Elf1 T C 14: 79,804,650 (GRCm39) V105A possibly damaging Het
F13a1 T C 13: 37,082,108 (GRCm39) K532R probably benign Het
Fmn1 T G 2: 113,412,463 (GRCm39) S996A probably damaging Het
Focad A C 4: 88,254,398 (GRCm39) probably benign Het
Frmd4a A T 2: 4,595,433 (GRCm39) E109D probably damaging Het
Frrs1 T G 3: 116,672,036 (GRCm39) S45A possibly damaging Het
Gm5422 T A 10: 31,124,510 (GRCm39) noncoding transcript Het
Gm5866 T C 5: 52,740,088 (GRCm39) noncoding transcript Het
Hmcn2 C T 2: 31,250,908 (GRCm39) T790M probably damaging Het
Iglon5 A T 7: 43,130,037 (GRCm39) Y42* probably null Het
Khdrbs2 C T 1: 32,283,157 (GRCm39) Q90* probably null Het
Krt74 T C 15: 101,670,630 (GRCm39) noncoding transcript Het
Lamc2 T A 1: 152,999,997 (GRCm39) M1121L probably benign Het
Lrig1 A G 6: 94,582,798 (GRCm39) L1073P probably benign Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Man2c1 C A 9: 57,047,661 (GRCm39) probably benign Het
Megf10 G A 18: 57,416,934 (GRCm39) D768N probably benign Het
Mycbp2 T C 14: 103,371,224 (GRCm39) N4108S possibly damaging Het
Nid1 A G 13: 13,651,003 (GRCm39) probably benign Het
Nnt A G 13: 119,533,488 (GRCm39) V59A probably damaging Het
Nsd1 G A 13: 55,394,486 (GRCm39) V696I probably benign Het
Or1o4 T C 17: 37,590,745 (GRCm39) T189A probably benign Het
Pag1 G A 3: 9,764,688 (GRCm39) T155M probably benign Het
Pid1 T C 1: 84,015,918 (GRCm39) D149G probably damaging Het
Pkp3 G A 7: 140,662,259 (GRCm39) M1I probably null Het
Pld2 C T 11: 70,434,949 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,735,978 (GRCm39) T152A possibly damaging Het
Rab9b T A X: 135,762,198 (GRCm39) E67D probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf214 T C 9: 45,777,932 (GRCm39) M625V possibly damaging Het
Rwdd2a A C 9: 86,456,214 (GRCm39) N130T possibly damaging Het
Scn9a T C 2: 66,313,992 (GRCm39) N1909D probably benign Het
Septin10 A T 10: 59,012,709 (GRCm39) M303K probably damaging Het
Sez6l2 A G 7: 126,558,375 (GRCm39) E339G probably damaging Het
Sf3b1 C A 1: 55,039,150 (GRCm39) probably benign Het
Shisal1 A T 15: 84,290,886 (GRCm39) Y120* probably null Het
Ska3 C T 14: 58,047,534 (GRCm39) V334I probably benign Het
Srebf2 A G 15: 82,066,309 (GRCm39) K579R probably benign Het
St18 A T 1: 6,914,553 (GRCm39) K799I probably damaging Het
Strada C T 11: 106,055,648 (GRCm39) R333Q probably damaging Het
Stradb A T 1: 59,024,544 (GRCm39) I64L probably benign Het
Sun1 A G 5: 139,224,575 (GRCm39) probably benign Het
Tecta T C 9: 42,242,292 (GRCm39) T2094A probably damaging Het
Tenm4 A T 7: 96,344,087 (GRCm39) R227W probably damaging Het
Tnk2 A G 16: 32,498,640 (GRCm39) D651G probably damaging Het
Trim43c A T 9: 88,729,810 (GRCm39) D417V probably damaging Het
Tsc22d4 T C 5: 137,757,495 (GRCm39) L374P possibly damaging Het
Ttn T C 2: 76,601,711 (GRCm39) T16872A probably benign Het
Ubr4 T C 4: 139,180,011 (GRCm39) V262A possibly damaging Het
Vmn2r60 A T 7: 41,765,980 (GRCm39) N29I probably benign Het
Xrn2 T C 2: 146,903,207 (GRCm39) V765A probably benign Het
Zbed4 C T 15: 88,664,990 (GRCm39) P353S probably benign Het
Zfp251 A G 15: 76,737,836 (GRCm39) I414T possibly damaging Het
Zfp426 A T 9: 20,384,413 (GRCm39) probably null Het
Zwilch A T 9: 64,063,316 (GRCm39) F286I probably benign 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
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'- TTATACACTGTCATAGCCAGCTTC -3'
(R):5'- CACAGACTTGCTACGGGAAG -3'

Sequencing Primer
(F):5'- CACTGGGACTTCTCTGACCAG -3'
(R):5'- ATTGAACCGGATCCACCTGTC -3'
Posted On 2015-03-25