Incidental Mutation 'R9072:Pmm1'
ID 700832
Institutional Source Beutler Lab
Gene Symbol Pmm1
Ensembl Gene ENSMUSG00000022474
Gene Name phosphomannomutase 1
Synonyms Secp53 (yeast) homolog
MMRRC Submission 068894-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9072 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 81835309-81845131 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81839896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 143 (R143H)
Ref Sequence ENSEMBL: ENSMUSP00000023112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023112] [ENSMUST00000038757] [ENSMUST00000071462] [ENSMUST00000155781] [ENSMUST00000230229]
AlphaFold O35621
Predicted Effect probably damaging
Transcript: ENSMUST00000023112
AA Change: R143H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023112
Gene: ENSMUSG00000022474
AA Change: R143H

DomainStartEndE-ValueType
Pfam:Hydrolase_3 16 209 7.1e-9 PFAM
Pfam:PMM 35 256 9.1e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038757
SMART Domains Protein: ENSMUSP00000044441
Gene: ENSMUSG00000042109

DomainStartEndE-ValueType
low complexity region 52 66 N/A INTRINSIC
CSP 71 136 6.71e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000071462
AA Change: R83H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071405
Gene: ENSMUSG00000022474
AA Change: R83H

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

DomainStartEndE-ValueType
PDB:2FUE|A 1 49 7e-21 PDB
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000230229
AA Change: R143H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (63/63)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,240,834 (GRCm39) E899A possibly damaging Het
Best2 T A 8: 85,737,418 (GRCm39) I230F probably damaging Het
C2cd2 T C 16: 97,676,403 (GRCm39) E448G probably damaging Het
C2cd3 T G 7: 100,040,291 (GRCm39) S287A probably benign Het
Camta2 G A 11: 70,567,234 (GRCm39) P677S probably benign Het
Cand2 C T 6: 115,769,490 (GRCm39) R767C probably damaging Het
Celsr3 G A 9: 108,704,293 (GRCm39) E259K probably benign Het
Cep250 C G 2: 155,834,035 (GRCm39) Q1987E probably benign Het
Chn1 T C 2: 73,443,430 (GRCm39) D440G probably benign Het
Cmbl A T 15: 31,585,449 (GRCm39) D111V possibly damaging Het
Col5a3 T A 9: 20,682,453 (GRCm39) I1664F unknown Het
Cp T C 3: 20,033,158 (GRCm39) S662P possibly damaging Het
Cpne5 G A 17: 29,430,677 (GRCm39) R78C probably damaging Het
Cst5 A G 2: 149,249,261 (GRCm39) T104A probably benign Het
Cyp11b2 A G 15: 74,725,662 (GRCm39) F195S possibly damaging Het
Dcaf17 T C 2: 70,920,136 (GRCm39) Y475H probably benign Het
Edem2 G C 2: 155,571,212 (GRCm39) L16V unknown Het
Eeig1 A G 2: 32,455,674 (GRCm39) S267G probably benign Het
Ext2 A G 2: 93,644,144 (GRCm39) W46R probably benign Het
Gal3st3 T A 19: 5,352,605 (GRCm39) S11T probably benign Het
Garin5b A T 7: 4,762,253 (GRCm39) H265Q Het
Gfi1 T A 5: 107,865,725 (GRCm39) I451F possibly damaging Het
Gfpt2 T C 11: 49,714,185 (GRCm39) L314P probably damaging Het
Gm3250 A T 10: 77,618,127 (GRCm39) C84S unknown Het
Hmcn1 A T 1: 150,565,320 (GRCm39) V2269E probably benign Het
Ighv1-55 T C 12: 115,172,013 (GRCm39) H18R probably benign Het
Iqgap3 G A 3: 87,998,883 (GRCm39) G328E probably benign Het
Klf6 G T 13: 5,917,233 (GRCm39) C303F probably benign Het
Klhl35 A T 7: 99,122,129 (GRCm39) S77C probably damaging Het
Ktn1 T G 14: 47,941,694 (GRCm39) V822G probably benign Het
Lbhd2 G T 12: 111,375,040 (GRCm39) G21W probably damaging Het
Lrp1b G A 2: 40,615,457 (GRCm39) R3649* probably null Het
Map2 C A 1: 66,453,312 (GRCm39) T734N probably damaging Het
Mas1 A G 17: 13,060,839 (GRCm39) F195L possibly damaging Het
Med1 A T 11: 98,080,009 (GRCm39) M44K possibly damaging Het
Morc3 T C 16: 93,667,482 (GRCm39) V620A probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Nucb2 T A 7: 116,125,631 (GRCm39) I159N probably damaging Het
Olfm5 A G 7: 103,802,984 (GRCm39) L493P probably benign Het
Or1e1 T G 11: 73,244,797 (GRCm39) F73V probably damaging Het
Or2ag15 A T 7: 106,340,759 (GRCm39) C127* probably null Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Pcdhb22 T A 18: 37,651,813 (GRCm39) C94S probably damaging Het
Pcdhga5 A G 18: 37,829,537 (GRCm39) I662V probably benign Het
Plcb2 G A 2: 118,547,878 (GRCm39) T472M possibly damaging Het
Plcb4 A G 2: 135,849,795 (GRCm39) E1142G possibly damaging Het
Polr2l T C 7: 141,053,285 (GRCm39) Y43C probably damaging Het
Prkcb T A 7: 122,127,771 (GRCm39) N298K probably benign Het
Ptar1 T A 19: 23,695,414 (GRCm39) C294S probably benign Het
Ptprq T C 10: 107,401,736 (GRCm39) I1919V Het
Slc25a18 C T 6: 120,769,022 (GRCm39) R180C probably benign Het
Slc27a3 A C 3: 90,295,768 (GRCm39) S285R probably damaging Het
Smg1 C T 7: 117,783,032 (GRCm39) V1092I unknown Het
Spata19 T G 9: 27,309,024 (GRCm39) I54R possibly damaging Het
St6galnac5 T C 3: 152,551,956 (GRCm39) T204A probably benign Het
Tdpoz8 T A 3: 92,981,341 (GRCm39) C46S probably benign Het
Trpc3 T C 3: 36,694,831 (GRCm39) I708V probably benign Het
Ttn T C 2: 76,775,183 (GRCm39) E1999G unknown Het
Ube3b C T 5: 114,542,607 (GRCm39) T488M probably damaging Het
Vmn1r235 A T 17: 21,482,271 (GRCm39) I199F probably benign Het
Vsig8 A T 1: 172,388,340 (GRCm39) N215Y possibly damaging Het
Wapl A G 14: 34,399,417 (GRCm39) K162R possibly damaging Het
Wdpcp A G 11: 21,614,014 (GRCm39) T60A probably benign Het
Wdr26 A T 1: 181,010,351 (GRCm39) I566N probably damaging Het
Wdr46 C T 17: 34,163,555 (GRCm39) T371M probably benign Het
Zdbf2 T C 1: 63,344,923 (GRCm39) S1101P possibly 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
R6409:Pmm1 UTSW 15 81,845,008 (GRCm39) missense probably benign 0.01
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
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 2022-02-07