Incidental Mutation 'R8248:Pmm1'
Institutional Source Beutler Lab
Gene Symbol Pmm1
Ensembl Gene ENSMUSG00000022474
Gene Namephosphomannomutase 1
SynonymsSecp53 (yeast) homolog
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8248 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location81951108-81960930 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 81960731 bp
Amino Acid Change Leucine to Arginine at position 24 (L24R)
Ref Sequence ENSEMBL: ENSMUSP00000023112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023112] [ENSMUST00000071462] [ENSMUST00000155781]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023112
AA Change: L24R

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023112
Gene: ENSMUSG00000022474
AA Change: L24R

Pfam:Hydrolase_3 16 209 7.1e-9 PFAM
Pfam:PMM 35 256 9.1e-115 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000071462
AA Change: L24R

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071405
Gene: ENSMUSG00000022474
AA Change: L24R

Pfam:PMM 16 196 1.4e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000155781
AA Change: L24R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115551
Gene: ENSMUSG00000022474
AA Change: L24R

PDB:2FUE|A 1 49 7e-21 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and behaviorally normal with no detectable motor dysfunction or histological abnormalities in major organ systems and no evidence of abnormal glycosylation patterns. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,883,806 D24G noncoding transcript Het
Adam32 A G 8: 24,901,470 S343P possibly damaging Het
Agbl2 G A 2: 90,797,564 G238R probably damaging Het
Ahi1 T A 10: 20,972,092 D466E probably benign Het
Ahnak T A 19: 9,001,946 V198E probably damaging Het
Ank2 T A 3: 126,937,785 H658L possibly damaging Het
Atp2b4 TTCTTC TTCTTCGTCTTC 1: 133,701,718 probably benign Het
Atp2b4 TCTTCT TCTTCTCCTTCT 1: 133,701,743 probably benign Het
Atp8b5 T A 4: 43,366,072 I781N probably damaging Het
Bloc1s6 A T 2: 122,742,645 R47* probably null Het
Clk2 G A 3: 89,173,504 V266M probably damaging Het
Cul9 A C 17: 46,530,014 Y777D probably damaging Het
Dcp1a A G 14: 30,522,926 T570A possibly damaging Het
Dcp1a C T 14: 30,479,598 probably benign Het
Dnajb2 T G 1: 75,243,582 D248E Het
Dpy19l1 T C 9: 24,502,895 H79R probably benign Het
Elmo1 T C 13: 20,600,201 S643P probably damaging Het
Evi5 A G 5: 107,818,887 probably null Het
Fam76b T C 9: 13,831,102 C110R probably damaging Het
Galnt7 T A 8: 57,538,188 K429N probably benign Het
Gm10142 T A 10: 77,716,116 C104S probably damaging Het
Gm7298 A C 6: 121,787,443 H1427P probably benign Het
Golga7b A T 19: 42,266,871 I87F probably damaging Het
Gpr165 C A X: 96,714,017 D7E probably benign Het
Gpr25 C A 1: 136,260,677 R66L probably benign Het
H2-Q2 A G 17: 35,344,865 N241D probably benign Het
Il1a T C 2: 129,302,961 D179G probably benign Het
Itch T C 2: 155,206,383 probably null Het
Itsn2 T C 12: 4,662,052 V913A probably benign Het
Lama4 T C 10: 39,061,379 I655T possibly damaging Het
Lats1 T A 10: 7,705,903 S817R probably damaging Het
Lrrc8c A T 5: 105,607,867 M503L probably benign Het
Mast4 T C 13: 102,738,721 T1380A probably damaging Het
Mfap1a G T 2: 121,506,495 T16K possibly damaging Het
Mroh2b C T 15: 4,931,104 T773I probably benign Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Nudt7 A G 8: 114,151,997 Y255C probably benign Het
Pfas T C 11: 69,000,263 T310A probably damaging Het
Pkhd1l1 T G 15: 44,543,546 I2393R probably damaging Het
Pram1 T C 17: 33,641,164 V235A probably benign Het
Prg4 T C 1: 150,455,126 T599A unknown Het
Prpf40b A G 15: 99,316,285 K812E unknown Het
Qars G A 9: 108,509,452 A155T probably benign Het
Rftn1 G T 17: 50,047,380 A318D probably damaging Het
Rom1 T A 19: 8,928,681 R165W probably damaging Het
Ryr1 A T 7: 29,069,121 W2808R probably damaging Het
Sh3gl1 A G 17: 56,019,038 probably null Het
Slc22a30 A T 19: 8,370,199 M279K probably benign Het
Snx11 A G 11: 96,769,933 S184P unknown Het
Srgap1 A G 10: 121,804,817 C692R probably damaging Het
Srgap3 T C 6: 112,723,143 N982S probably damaging Het
Stac T A 9: 111,593,745 D270V probably benign Het
Syn3 T A 10: 86,135,021 I246F probably benign Het
Tnr T C 1: 159,892,093 V980A probably damaging Het
Usp17le G T 7: 104,769,794 A47E possibly damaging Het
Vmn2r118 T C 17: 55,610,936 N192S probably benign Het
Zmym4 C A 4: 126,905,369 V725L possibly damaging Het
Other mutations in Pmm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Pmm1 APN 15 81955744 missense probably damaging 1.00
IGL01348:Pmm1 APN 15 81952018 missense probably damaging 0.98
IGL01743:Pmm1 APN 15 81960786 missense probably benign 0.02
R1564:Pmm1 UTSW 15 81956200 missense probably damaging 1.00
R2202:Pmm1 UTSW 15 81956400 missense probably benign 0.05
R5008:Pmm1 UTSW 15 81957894 critical splice donor site probably null
R5775:Pmm1 UTSW 15 81951955 missense probably benign 0.16
R6409:Pmm1 UTSW 15 81960807 missense probably benign 0.01
R7184:Pmm1 UTSW 15 81956214 missense probably damaging 1.00
R7545:Pmm1 UTSW 15 81951602 missense probably damaging 0.97
RF013:Pmm1 UTSW 15 81957813 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On2020-07-28