Incidental Mutation 'R0478:Pgm5'
ID 43225
Institutional Source Beutler Lab
Gene Symbol Pgm5
Ensembl Gene ENSMUSG00000041731
Gene Name phosphoglucomutase 5
Synonyms 9530034F03Rik, aciculin
MMRRC Submission 038678-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R0478 (G1)
Quality Score 206
Status Validated
Chromosome 19
Chromosomal Location 24660380-24839219 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24812233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 100 (S100T)
Ref Sequence ENSEMBL: ENSMUSP00000036025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047666]
AlphaFold Q8BZF8
Predicted Effect possibly damaging
Transcript: ENSMUST00000047666
AA Change: S100T

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: S100T

DomainStartEndE-ValueType
Pfam:PGM_PMM_I 19 163 3.9e-31 PFAM
Pfam:PGM_PMM_II 198 306 1.8e-15 PFAM
Pfam:PGM_PMM_III 311 425 6.9e-31 PFAM
SCOP:d3pmga4 427 567 5e-74 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150339
Meta Mutation Damage Score 0.5503 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,262,014 (GRCm39) noncoding transcript Het
4930556J24Rik T G 11: 3,926,259 (GRCm39) probably benign Het
Acnat1 T G 4: 49,450,901 (GRCm39) D70A probably damaging Het
Adnp2 A G 18: 80,172,549 (GRCm39) V620A probably benign Het
Aldoart1 T A 4: 72,770,580 (GRCm39) H21L probably benign Het
Birc2 A G 9: 7,860,348 (GRCm39) V290A probably damaging Het
Bpifb3 C T 2: 153,773,400 (GRCm39) probably benign Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Clmn A G 12: 104,751,750 (GRCm39) M235T probably damaging Het
Dmbt1 A G 7: 130,642,917 (GRCm39) E245G possibly damaging Het
Epgn G T 5: 91,178,987 (GRCm39) V36L probably benign Het
Ets2 C A 16: 95,517,306 (GRCm39) P346Q probably damaging Het
Fam222b T C 11: 78,044,682 (GRCm39) L81P probably damaging Het
Fancf A C 7: 51,511,440 (GRCm39) L188R probably damaging Het
Fibin T C 2: 110,193,079 (GRCm39) D21G possibly damaging Het
Fzd6 A G 15: 38,897,429 (GRCm39) probably null Het
Gbp4 T A 5: 105,267,299 (GRCm39) Q540L probably benign Het
Greb1l T A 18: 10,509,281 (GRCm39) L531Q probably damaging Het
Il5ra A G 6: 106,715,423 (GRCm39) V137A probably benign Het
Kif26a G A 12: 112,142,223 (GRCm39) A826T probably damaging Het
Kiz T C 2: 146,784,078 (GRCm39) V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 (GRCm39) G15D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lbp T C 2: 158,159,448 (GRCm39) probably benign Het
Mmp25 T C 17: 23,851,756 (GRCm39) T318A probably benign Het
Mrpl50 A G 4: 49,514,513 (GRCm39) C53R probably damaging Het
Msl3l2 G C 10: 55,991,411 (GRCm39) E45D probably damaging Het
Nfxl1 A G 5: 72,681,988 (GRCm39) probably null Het
Noc3l A G 19: 38,798,450 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,370 (GRCm39) V287E probably damaging Het
Or1x6 T C 11: 50,939,539 (GRCm39) S202P probably benign Het
Pi4ka C T 16: 17,127,175 (GRCm39) G1093S possibly damaging Het
Pitrm1 T A 13: 6,609,431 (GRCm39) S350T probably damaging Het
Ptk2b G T 14: 66,450,821 (GRCm39) N48K probably damaging Het
Septin3 T C 15: 82,175,007 (GRCm39) L172P probably damaging Het
Sirt3 A T 7: 140,458,027 (GRCm39) C41S Het
Sphkap C T 1: 83,256,432 (GRCm39) R152H probably damaging Het
St3gal1 T C 15: 66,985,579 (GRCm39) Y25C probably damaging Het
Tbc1d31 T C 15: 57,795,932 (GRCm39) F175S probably damaging Het
Tfdp2 T A 9: 96,172,636 (GRCm39) D43E probably benign Het
Tgm1 G A 14: 55,937,791 (GRCm39) Q773* probably null Het
Tmc3 A T 7: 83,271,360 (GRCm39) R837S possibly damaging Het
Unc13a A G 8: 72,103,792 (GRCm39) V880A possibly damaging Het
Vmn1r237 T A 17: 21,535,081 (GRCm39) V268E probably damaging Het
Zan C T 5: 137,398,788 (GRCm39) probably benign Het
Zfp760 G T 17: 21,940,995 (GRCm39) E57* probably null Het
Other mutations in Pgm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Pgm5 APN 19 24,812,130 (GRCm39) missense possibly damaging 0.65
IGL01318:Pgm5 APN 19 24,793,842 (GRCm39) missense probably damaging 1.00
IGL01372:Pgm5 APN 19 24,710,985 (GRCm39) missense probably damaging 1.00
IGL01541:Pgm5 APN 19 24,793,777 (GRCm39) missense probably damaging 1.00
IGL01648:Pgm5 APN 19 24,801,715 (GRCm39) missense probably damaging 0.99
IGL02049:Pgm5 APN 19 24,801,782 (GRCm39) missense probably benign 0.00
IGL02827:Pgm5 APN 19 24,686,659 (GRCm39) missense probably benign 0.16
IGL02975:Pgm5 APN 19 24,812,212 (GRCm39) missense probably benign 0.00
3-1:Pgm5 UTSW 19 24,705,152 (GRCm39) missense probably benign 0.02
P0047:Pgm5 UTSW 19 24,793,785 (GRCm39) missense probably damaging 1.00
PIT4466001:Pgm5 UTSW 19 24,801,693 (GRCm39) missense probably damaging 1.00
R0013:Pgm5 UTSW 19 24,710,904 (GRCm39) critical splice donor site probably null
R0047:Pgm5 UTSW 19 24,661,920 (GRCm39) missense probably damaging 0.98
R0180:Pgm5 UTSW 19 24,793,127 (GRCm39) missense probably damaging 1.00
R0317:Pgm5 UTSW 19 24,801,763 (GRCm39) missense possibly damaging 0.55
R1587:Pgm5 UTSW 19 24,793,113 (GRCm39) missense probably damaging 1.00
R2017:Pgm5 UTSW 19 24,801,676 (GRCm39) missense probably benign 0.06
R2087:Pgm5 UTSW 19 24,710,927 (GRCm39) missense probably damaging 0.99
R2152:Pgm5 UTSW 19 24,812,179 (GRCm39) missense probably damaging 1.00
R2169:Pgm5 UTSW 19 24,812,179 (GRCm39) missense probably damaging 1.00
R3851:Pgm5 UTSW 19 24,797,567 (GRCm39) missense probably damaging 1.00
R4034:Pgm5 UTSW 19 24,839,021 (GRCm39) missense probably damaging 0.96
R4489:Pgm5 UTSW 19 24,793,809 (GRCm39) missense probably benign 0.12
R4630:Pgm5 UTSW 19 24,812,110 (GRCm39) nonsense probably null
R4736:Pgm5 UTSW 19 24,812,169 (GRCm39) missense probably damaging 1.00
R5186:Pgm5 UTSW 19 24,797,492 (GRCm39) missense probably damaging 1.00
R5414:Pgm5 UTSW 19 24,686,689 (GRCm39) missense probably damaging 0.99
R5558:Pgm5 UTSW 19 24,801,815 (GRCm39) splice site probably null
R5617:Pgm5 UTSW 19 24,727,765 (GRCm39) nonsense probably null
R6142:Pgm5 UTSW 19 24,801,772 (GRCm39) missense probably damaging 1.00
R6648:Pgm5 UTSW 19 24,838,996 (GRCm39) missense probably benign 0.02
R6821:Pgm5 UTSW 19 24,839,011 (GRCm39) missense possibly damaging 0.88
R7360:Pgm5 UTSW 19 24,812,181 (GRCm39) missense probably damaging 1.00
R7421:Pgm5 UTSW 19 24,686,663 (GRCm39) missense probably benign 0.03
R7590:Pgm5 UTSW 19 24,686,629 (GRCm39) missense probably damaging 1.00
R7610:Pgm5 UTSW 19 24,812,120 (GRCm39) missense probably damaging 1.00
R7685:Pgm5 UTSW 19 24,705,215 (GRCm39) missense probably benign 0.45
R8254:Pgm5 UTSW 19 24,705,089 (GRCm39) missense probably benign 0.18
R8405:Pgm5 UTSW 19 24,705,106 (GRCm39) missense probably benign 0.01
R8516:Pgm5 UTSW 19 24,793,074 (GRCm39) missense probably benign
R8755:Pgm5 UTSW 19 24,812,212 (GRCm39) missense probably damaging 0.98
R9236:Pgm5 UTSW 19 24,839,003 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGAGACTAGCCCTGTGCATCTGAG -3'
(R):5'- AGCTTTCCTACCACAGAGTCTGTCC -3'

Sequencing Primer
(F):5'- GAATCATATCGCCTTGGGCATC -3'
(R):5'- TCCATGAACCTTGGACTGAC -3'
Posted On 2013-05-23