Incidental Mutation 'R6409:Pmm1'
ID 514787
Institutional Source Beutler Lab
Gene Symbol Pmm1
Ensembl Gene ENSMUSG00000022474
Gene Name phosphomannomutase 1
Synonyms Secp53 (yeast) homolog
MMRRC Submission 044554-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6409 (G1)
Quality Score 118.008
Status Not validated
Chromosome 15
Chromosomal Location 81835309-81845131 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81845008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 9 (T9A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023112] [ENSMUST00000071462] [ENSMUST00000155781] [ENSMUST00000230229]
AlphaFold O35621
Predicted Effect probably benign
Transcript: ENSMUST00000023112
SMART Domains Protein: ENSMUSP00000023112
Gene: ENSMUSG00000022474

DomainStartEndE-ValueType
Pfam:Hydrolase_3 16 209 7.1e-9 PFAM
Pfam:PMM 35 256 9.1e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071462
SMART Domains Protein: ENSMUSP00000071405
Gene: ENSMUSG00000022474

DomainStartEndE-ValueType
Pfam:PMM 16 196 1.4e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147645
Predicted Effect probably benign
Transcript: ENSMUST00000155781
SMART Domains Protein: ENSMUSP00000115551
Gene: ENSMUSG00000022474

DomainStartEndE-ValueType
PDB:2FUE|A 1 49 7e-21 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000229120
AA Change: T9A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229957
Predicted Effect probably benign
Transcript: ENSMUST00000230229
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (32/33)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G T 11: 119,902,558 (GRCm39) Q556K probably benign Het
Adgrf3 A G 5: 30,402,312 (GRCm39) V572A probably damaging Het
Ahnak G A 19: 8,986,938 (GRCm39) V2741M probably benign Het
Ascc3 T C 10: 50,721,676 (GRCm39) V2043A probably benign Het
B3glct C T 5: 149,658,916 (GRCm39) R239C probably benign Het
Cacna2d4 T A 6: 119,259,189 (GRCm39) V626E probably damaging Het
Cdcp3 G A 7: 130,863,800 (GRCm39) probably benign Het
Cfap54 T C 10: 92,803,354 (GRCm39) N1563D probably benign Het
Duox2 G C 2: 122,115,148 (GRCm39) H1110D probably damaging Het
Inppl1 A T 7: 101,478,168 (GRCm39) F648I probably damaging Het
Mefv C A 16: 3,528,657 (GRCm39) probably null Het
Ms4a4b T C 19: 11,438,724 (GRCm39) probably null Het
Mtus2 T C 5: 148,014,425 (GRCm39) V406A probably benign Het
Nup88 T C 11: 70,835,798 (GRCm39) R554G probably null Het
Or1x2 A G 11: 50,918,015 (GRCm39) Y62C probably damaging Het
Or4d10 C T 19: 12,052,111 (GRCm39) probably benign Het
Or8h8 A T 2: 86,753,515 (GRCm39) Y120* probably null Het
Pde10a A G 17: 9,168,270 (GRCm39) D246G probably damaging Het
Pramel19 C T 4: 101,797,874 (GRCm39) Q91* probably null Het
Psg18 T C 7: 18,087,446 (GRCm39) M71V probably benign Het
Rapgef4 A G 2: 72,008,581 (GRCm39) H253R probably benign Het
Rfc4 T C 16: 22,932,823 (GRCm39) *371W probably null Het
Rgs18 T A 1: 144,650,931 (GRCm39) K17* probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Sertm1 T C 3: 54,806,788 (GRCm39) Y79C probably benign Het
Sfrp1 T C 8: 23,907,394 (GRCm39) I198T possibly damaging Het
Slc15a2 T A 16: 36,582,232 (GRCm39) I254F probably benign Het
Slc29a4 A G 5: 142,697,826 (GRCm39) D93G probably damaging Het
Smo T C 6: 29,736,113 (GRCm39) L35S unknown Het
Tbc1d8 A G 1: 39,411,669 (GRCm39) S1056P probably benign Het
Ttll9 A G 2: 152,841,261 (GRCm39) D286G probably damaging Het
Vmn2r14 A G 5: 109,364,096 (GRCm39) Y607H probably benign Het
Vps8 T A 16: 21,297,189 (GRCm39) C564S probably benign Het
Zc3h12d A G 10: 7,743,082 (GRCm39) H284R probably benign Het
Zfp106 A T 2: 120,362,585 (GRCm39) S79T probably damaging Het
Other mutations in Pmm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Pmm1 APN 15 81,839,945 (GRCm39) missense probably damaging 1.00
IGL01348:Pmm1 APN 15 81,836,219 (GRCm39) missense probably damaging 0.98
IGL01743:Pmm1 APN 15 81,844,987 (GRCm39) missense probably benign 0.02
R1564:Pmm1 UTSW 15 81,840,401 (GRCm39) missense probably damaging 1.00
R2202:Pmm1 UTSW 15 81,840,601 (GRCm39) missense probably benign 0.05
R5008:Pmm1 UTSW 15 81,842,095 (GRCm39) critical splice donor site probably null
R5775:Pmm1 UTSW 15 81,836,156 (GRCm39) missense probably benign 0.16
R7184:Pmm1 UTSW 15 81,840,415 (GRCm39) missense probably damaging 1.00
R7545:Pmm1 UTSW 15 81,835,803 (GRCm39) missense probably damaging 0.97
R8248:Pmm1 UTSW 15 81,844,932 (GRCm39) missense possibly damaging 0.95
R9022:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9023:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9024:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9072:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9072:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9073:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9074:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9076:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9077:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9116:Pmm1 UTSW 15 81,839,896 (GRCm39) missense probably damaging 1.00
R9768:Pmm1 UTSW 15 81,840,460 (GRCm39) missense possibly damaging 0.83
RF013:Pmm1 UTSW 15 81,842,014 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2018-05-04