Incidental Mutation 'R5617:Pgm5'
ID 439613
Institutional Source Beutler Lab
Gene Symbol Pgm5
Ensembl Gene ENSMUSG00000041731
Gene Name phosphoglucomutase 5
Synonyms 9530034F03Rik, aciculin
MMRRC Submission 043276-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R5617 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 24660380-24839219 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 24727765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 375 (R375*)
Ref Sequence ENSEMBL: ENSMUSP00000036025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047666]
AlphaFold Q8BZF8
Predicted Effect probably null
Transcript: ENSMUST00000047666
AA Change: R375*
SMART Domains Protein: ENSMUSP00000036025
Gene: ENSMUSG00000041731
AA Change: R375*

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: ENSMUST00000133692
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (59/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,227,891 (GRCm39) L645F probably benign Het
Acss3 T C 10: 106,787,851 (GRCm39) Y522C probably damaging Het
Asb18 A G 1: 89,882,184 (GRCm39) V118A possibly damaging Het
Aste1 T A 9: 105,275,034 (GRCm39) C8S probably benign Het
Atp10a A G 7: 58,453,423 (GRCm39) S834G probably benign Het
Cdh18 A G 15: 23,226,854 (GRCm39) D105G probably damaging Het
Cenpb T C 2: 131,020,934 (GRCm39) E288G probably damaging Het
Clcnka C T 4: 141,116,628 (GRCm39) G541D probably null Het
Dctn3 T C 4: 41,716,407 (GRCm39) I134V possibly damaging Het
Dennd4b T C 3: 90,182,933 (GRCm39) S917P probably benign Het
Fam135b A T 15: 71,493,865 (GRCm39) D21E probably damaging Het
Fam174a T C 1: 95,241,972 (GRCm39) V144A probably damaging Het
Fbxo38 A G 18: 62,639,042 (GRCm39) Y1087H probably damaging Het
Gm7275 A T 16: 47,894,527 (GRCm39) noncoding transcript Het
Gm9271 G T 7: 39,013,076 (GRCm39) noncoding transcript Het
Grm2 T C 9: 106,528,275 (GRCm39) probably null Het
Htt T A 5: 35,028,150 (GRCm39) V1802D possibly damaging Het
Ighv1-75 C A 12: 115,797,874 (GRCm39) G16V probably benign Het
Krt78 G A 15: 101,856,044 (GRCm39) T589I probably damaging Het
Lama3 T C 18: 12,631,993 (GRCm39) probably benign Het
Lbr A T 1: 181,656,467 (GRCm39) V227D probably benign Het
Lsamp T C 16: 41,954,786 (GRCm39) V211A probably damaging Het
Map3k19 G A 1: 127,750,703 (GRCm39) R883C probably damaging Het
Marchf8 A C 6: 116,380,481 (GRCm39) I111L possibly damaging Het
Mrps10 T A 17: 47,689,167 (GRCm39) M187K probably benign Het
Ncdn G A 4: 126,638,840 (GRCm39) R660C probably damaging Het
Notum A T 11: 120,547,171 (GRCm39) Y332* probably null Het
Nr1h5 A T 3: 102,855,145 (GRCm39) L319I probably damaging Het
Or51q1 A T 7: 103,628,921 (GRCm39) H180L possibly damaging Het
Or8k35 T A 2: 86,424,345 (GRCm39) I276L probably benign Het
Osbpl5 T C 7: 143,246,684 (GRCm39) D765G possibly damaging Het
Parp3 C T 9: 106,351,704 (GRCm39) V170M possibly damaging Het
Pcdh15 A G 10: 74,471,504 (GRCm39) probably benign Het
Pcdha9 T G 18: 37,131,869 (GRCm39) S313A probably benign Het
Pfkm A G 15: 98,020,107 (GRCm39) R201G possibly damaging Het
Phactr2 A G 10: 13,349,809 (GRCm39) S72P possibly damaging Het
Plaat1 A T 16: 29,039,162 (GRCm39) R81* probably null Het
Plec A G 15: 76,058,732 (GRCm39) L3600P probably damaging Het
Pou6f1 G A 15: 100,483,874 (GRCm39) T208M possibly damaging Het
Rabep1 C T 11: 70,808,355 (GRCm39) S394L probably damaging Het
Ranbp2 T G 10: 58,301,489 (GRCm39) F687C probably damaging Het
Ranbp6 A G 19: 29,789,863 (GRCm39) F163S probably damaging Het
Rcor3 T C 1: 191,804,430 (GRCm39) N240D probably benign Het
Samd13 C A 3: 146,352,065 (GRCm39) K95N probably benign Het
Slc25a17 G T 15: 81,244,975 (GRCm39) probably benign Het
Slfn8 G T 11: 82,895,547 (GRCm39) H420N probably benign Het
Sptbn5 G A 2: 119,876,965 (GRCm39) probably benign Het
Stim2 G A 5: 54,267,075 (GRCm39) E21K probably damaging Het
Tmem163 A G 1: 127,479,067 (GRCm39) Y151H possibly damaging Het
Trio A G 15: 27,902,834 (GRCm39) I209T probably benign Het
Tubal3 T A 13: 3,983,432 (GRCm39) L404H probably damaging Het
Ubqln3 A G 7: 103,791,640 (GRCm39) F150S probably damaging Het
Ubr5 T C 15: 38,030,901 (GRCm39) S425G possibly damaging Het
Vmn2r52 T A 7: 9,904,861 (GRCm39) H326L probably damaging 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
R0478:Pgm5 UTSW 19 24,812,233 (GRCm39) missense possibly damaging 0.45
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
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'- ATGCATCCTGCTGGCTTTCG -3'
(R):5'- TACGTACTCTCTAACACATGGC -3'

Sequencing Primer
(F):5'- CTGGCTTTCGCTGGTTTTC -3'
(R):5'- AAGGTCCCCGTGTATGA -3'
Posted On 2016-11-08