Incidental Mutation 'R9074:Pmm1'
ID 689696
Institutional Source Beutler Lab
Gene Symbol Pmm1
Ensembl Gene ENSMUSG00000022474
Gene Name phosphomannomutase 1
Synonyms Secp53 (yeast) homolog
MMRRC Submission 068895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9074 (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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (63/64)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,972,257 (GRCm39) silent Het
Ackr2 T A 9: 121,737,729 (GRCm39) C35S probably damaging Het
Adcy8 T A 15: 64,573,940 (GRCm39) K1054N probably damaging Het
Adgrf1 A T 17: 43,601,879 (GRCm39) probably benign Het
Akap9 T A 5: 4,127,959 (GRCm39) I3765K probably benign Het
Brwd1 A T 16: 95,824,610 (GRCm39) F1219I Het
Btc A T 5: 91,508,603 (GRCm39) probably null Het
Cd163 C T 6: 124,285,947 (GRCm39) R166* probably null Het
Cfap52 G A 11: 67,822,656 (GRCm39) S405L probably benign Het
Clcn2 A G 16: 20,531,414 (GRCm39) L210P possibly damaging Het
Creb3l3 T A 10: 80,924,452 (GRCm39) probably null Het
Csn1s2a A T 5: 87,934,458 (GRCm39) I144F probably benign Het
Dedd G T 1: 171,167,888 (GRCm39) probably benign Het
Eef2k C T 7: 120,491,124 (GRCm39) R537C probably damaging Het
Epas1 A T 17: 87,135,267 (GRCm39) R633S probably benign Het
Fmn2 C A 1: 174,436,198 (GRCm39) T723N unknown Het
Frmd4a G T 2: 4,608,765 (GRCm39) G878W probably damaging Het
Ggcx T G 6: 72,402,924 (GRCm39) F294C probably damaging Het
Ghr G A 15: 3,370,470 (GRCm39) P132S possibly damaging Het
Gm15446 A T 5: 110,091,299 (GRCm39) H517L probably damaging Het
Gm5862 T C 5: 26,226,624 (GRCm39) T93A probably damaging Het
Gnb1l T A 16: 18,359,745 (GRCm39) I50N probably damaging Het
Greb1l A G 18: 10,532,797 (GRCm39) Y897C probably damaging Het
Greb1l T C 18: 10,558,795 (GRCm39) C1817R probably damaging Het
Ier5 C A 1: 154,974,275 (GRCm39) W301L probably damaging Het
Irf2bp2 A G 8: 127,318,456 (GRCm39) L370P probably benign Het
Itga9 T A 9: 118,636,344 (GRCm39) N677K probably damaging Het
Itgb7 G T 15: 102,132,797 (GRCm39) R172S Het
Kdm6b A T 11: 69,292,977 (GRCm39) C1266* probably null Het
Kmt2c A T 5: 25,489,343 (GRCm39) V4532E probably damaging Het
Kprp A C 3: 92,732,226 (GRCm39) F275V probably damaging Het
Lrrc4 C A 6: 28,831,595 (GRCm39) V7L probably damaging Het
Map3k21 G A 8: 126,664,050 (GRCm39) R537H probably damaging Het
Mchr1 T G 15: 81,119,980 (GRCm39) D2E probably benign Het
Mixl1 T C 1: 180,522,245 (GRCm39) D212G probably damaging Het
Mup2 T C 4: 60,139,717 (GRCm39) T24A probably benign Het
Naip2 C T 13: 100,291,459 (GRCm39) D1160N probably benign Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Naip5 T C 13: 100,358,264 (GRCm39) K991E possibly damaging Het
Ndufb11b T A 15: 81,865,011 (GRCm39) M84K probably damaging Het
Nfe2l1 G A 11: 96,710,573 (GRCm39) A552V possibly damaging Het
Or2p2 C T 13: 21,256,784 (GRCm39) R229H possibly damaging Het
Or51r1 T G 7: 102,228,433 (GRCm39) S244A probably damaging Het
Or56b1 C T 7: 104,285,291 (GRCm39) R137C probably benign Het
Pds5a A G 5: 65,804,479 (GRCm39) S527P possibly damaging Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pgc T A 17: 48,043,351 (GRCm39) V233E probably damaging Het
Pias1 T C 9: 62,888,164 (GRCm39) probably benign Het
Pign A T 1: 105,556,246 (GRCm39) W72R unknown Het
Proc A G 18: 32,268,950 (GRCm39) S12P possibly damaging Het
Rida T A 15: 34,488,823 (GRCm39) Q23L probably damaging Het
Slc22a8 A G 19: 8,587,025 (GRCm39) E406G possibly damaging Het
Slc2a7 A G 4: 150,242,625 (GRCm39) T238A probably benign Het
Spata31h1 T A 10: 82,123,894 (GRCm39) S3039C possibly damaging Het
Spp1 A G 5: 104,588,167 (GRCm39) I190V probably benign Het
Srgap1 T C 10: 121,628,257 (GRCm39) D882G probably damaging Het
Ssrp1 T A 2: 84,875,811 (GRCm39) W557R probably damaging Het
Strn C G 17: 79,043,790 (GRCm39) A43P probably benign Het
Taf6 A C 5: 138,180,465 (GRCm39) Y300D probably damaging Het
Tesk2 A G 4: 116,658,933 (GRCm39) Y270C probably damaging Het
Tnnt3 T A 7: 142,065,823 (GRCm39) D153E probably benign Het
Ubl7 A G 9: 57,826,637 (GRCm39) H117R possibly damaging Het
Vcan T A 13: 89,839,146 (GRCm39) T2133S possibly damaging Het
Vrk2 T A 11: 26,543,917 (GRCm39) probably benign Het
Wdr72 A C 9: 74,125,902 (GRCm39) Q1011P possibly damaging Het
Wls T A 3: 159,615,403 (GRCm39) I306N possibly damaging Het
Zfp654 A G 16: 64,611,496 (GRCm39) S283P probably damaging Het
Zfp956 C T 6: 47,939,462 (GRCm39) T170I 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
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
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 PCR Primer
(F):5'- TGTGCAATCGTAATATGACCATAGC -3'
(R):5'- ACTCATGGCTGGGTGGATTC -3'

Sequencing Primer
(F):5'- GCTGGTGGCACAGACAC -3'
(R):5'- TTAAAGGAGTGTTCCAGCACC -3'
Posted On 2021-11-19