Incidental Mutation 'R1564:Pmm1'
ID 175151
Institutional Source Beutler Lab
Gene Symbol Pmm1
Ensembl Gene ENSMUSG00000022474
Gene Name phosphomannomutase 1
Synonyms Secp53 (yeast) homolog
MMRRC Submission 039603-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1564 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 81835309-81845131 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81840401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 55 (Y55H)
Ref Sequence ENSEMBL: ENSMUSP00000071405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023112] [ENSMUST00000071462] [ENSMUST00000230229] [ENSMUST00000155781]
AlphaFold O35621
Predicted Effect probably damaging
Transcript: ENSMUST00000023112
AA Change: Y115H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023112
Gene: ENSMUSG00000022474
AA Change: Y115H

DomainStartEndE-ValueType
Pfam:Hydrolase_3 16 209 7.1e-9 PFAM
Pfam:PMM 35 256 9.1e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071462
AA Change: Y55H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071405
Gene: ENSMUSG00000022474
AA Change: Y55H

DomainStartEndE-ValueType
Pfam:PMM 16 196 1.4e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125593
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147645
Predicted Effect unknown
Transcript: ENSMUST00000229120
AA Change: Y125H
Predicted Effect probably damaging
Transcript: ENSMUST00000230229
AA Change: Y115H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229957
Predicted Effect probably benign
Transcript: ENSMUST00000155781
SMART Domains Protein: ENSMUSP00000115551
Gene: ENSMUSG00000022474

DomainStartEndE-ValueType
PDB:2FUE|A 1 49 7e-21 PDB
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.0%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,384,316 (GRCm39) Q3923* probably null Het
Abcc12 T A 8: 87,244,115 (GRCm39) T1013S probably benign Het
Acad9 T C 3: 36,143,578 (GRCm39) I558T possibly damaging Het
Agbl4 C A 4: 110,812,761 (GRCm39) probably null Het
Akr1b1 C T 6: 34,283,470 (GRCm39) probably null Het
Aktip A G 8: 91,857,709 (GRCm39) M1T probably null Het
Apc G T 18: 34,448,202 (GRCm39) Q1665H probably benign Het
Arfgef3 T C 10: 18,467,452 (GRCm39) D1916G probably damaging Het
Arhgef11 T C 3: 87,609,817 (GRCm39) V365A probably benign Het
Bank1 C A 3: 135,919,602 (GRCm39) E265* probably null Het
Bbs7 A T 3: 36,629,944 (GRCm39) D578E probably damaging Het
Bin3 T C 14: 70,372,218 (GRCm39) F172L probably damaging Het
Bves A G 10: 45,245,377 (GRCm39) D350G probably benign Het
Cacna1h A T 17: 25,596,835 (GRCm39) C80* probably null Het
Cacna2d4 T C 6: 119,218,156 (GRCm39) F164L possibly damaging Het
Cenpj T C 14: 56,789,523 (GRCm39) D842G probably benign Het
Col12a1 C A 9: 79,521,122 (GRCm39) R2781L probably damaging Het
Cyp2c68 A T 19: 39,724,024 (GRCm39) C213* probably null Het
Defb33 T A 8: 21,387,597 (GRCm39) C45S possibly damaging Het
Dolk A T 2: 30,175,633 (GRCm39) N137K probably damaging Het
Fam171b G A 2: 83,710,628 (GRCm39) E767K probably damaging Het
Fbxl20 A T 11: 97,989,312 (GRCm39) D189E probably damaging Het
Gm10643 A T 8: 84,791,111 (GRCm39) M1K probably null Het
Gm572 T G 4: 148,735,643 (GRCm39) I24S possibly damaging Het
Gnpda1 A G 18: 38,471,142 (GRCm39) probably null Het
Gpr141b T C 13: 19,913,470 (GRCm39) noncoding transcript Het
Helz2 G T 2: 180,875,021 (GRCm39) N1824K probably benign Het
Insl3 G T 8: 72,142,935 (GRCm39) A99S possibly damaging Het
Lpin2 G A 17: 71,532,055 (GRCm39) V137I probably benign Het
Lrrc9 A G 12: 72,533,827 (GRCm39) E1032G probably damaging Het
Macf1 T C 4: 123,353,150 (GRCm39) T1510A probably benign Het
Mnd1 T C 3: 84,023,738 (GRCm39) E116G probably benign Het
Mycbp2 A G 14: 103,407,287 (GRCm39) probably null Het
Myoz3 G A 18: 60,713,914 (GRCm39) S23L probably benign Het
Napsa G T 7: 44,236,073 (GRCm39) V371F probably damaging Het
Nefh T C 11: 4,889,878 (GRCm39) T914A unknown Het
Neurod2 A T 11: 98,218,250 (GRCm39) C305S probably damaging Het
Nmnat3 T C 9: 98,236,219 (GRCm39) probably null Het
Nuf2 A G 1: 169,326,362 (GRCm39) V463A unknown Het
Olfml1 A T 7: 107,170,346 (GRCm39) T78S possibly damaging Het
Opcml G A 9: 28,814,612 (GRCm39) C288Y probably damaging Het
Oprl1 T C 2: 181,360,733 (GRCm39) I222T possibly damaging Het
Or13a28 G A 7: 140,217,967 (GRCm39) V118I probably benign Het
Or4c104 A T 2: 88,587,000 (GRCm39) N6K possibly damaging Het
Or4c122 G T 2: 89,080,016 (GRCm39) N7K probably benign Het
Or6c210 T C 10: 129,495,884 (GRCm39) F70L probably benign Het
Pcsk5 A G 19: 17,632,120 (GRCm39) Y349H probably damaging Het
Pla2g4d C A 2: 120,099,384 (GRCm39) R706L possibly damaging Het
Polb A G 8: 23,120,357 (GRCm39) probably null Het
Pom121l2 T C 13: 22,167,523 (GRCm39) I598T possibly damaging Het
Pxmp2 C T 5: 110,429,062 (GRCm39) probably null Het
Rbm39 G T 2: 155,996,177 (GRCm39) L403I probably benign Het
Rec8 T C 14: 55,859,732 (GRCm39) probably null Het
Reck T C 4: 43,912,061 (GRCm39) I190T probably benign Het
Rer1 A T 4: 155,160,050 (GRCm39) I166N probably damaging Het
Rgs17 T A 10: 5,792,567 (GRCm39) K60* probably null Het
Ripor2 C T 13: 24,859,768 (GRCm39) T152M probably damaging Het
Scgb1b2 A T 7: 30,991,200 (GRCm39) probably benign Het
Scn3a C A 2: 65,344,979 (GRCm39) R503M probably damaging Het
Scn4a C A 11: 106,236,367 (GRCm39) D298Y probably benign Het
Scn9a A G 2: 66,314,648 (GRCm39) F1679S probably damaging Het
Scyl3 G T 1: 163,767,553 (GRCm39) probably null Het
Sec23ip A G 7: 128,368,005 (GRCm39) probably null Het
She C T 3: 89,756,921 (GRCm39) A325V possibly damaging Het
Skint2 T G 4: 112,483,195 (GRCm39) M200R probably damaging Het
Slc17a5 A T 9: 78,485,981 (GRCm39) C35S probably damaging Het
Slc25a24 T A 3: 109,070,819 (GRCm39) S393T probably damaging Het
Slc6a19 C T 13: 73,834,243 (GRCm39) V320M probably damaging Het
Snap91 T C 9: 86,674,249 (GRCm39) D579G possibly damaging Het
Spats2l C T 1: 57,985,383 (GRCm39) R479C probably damaging Het
Syngr3 G C 17: 24,905,642 (GRCm39) probably null Het
Tas2r107 A C 6: 131,636,785 (GRCm39) I88R probably damaging Het
Them7 A T 2: 105,128,259 (GRCm39) N80I probably damaging Het
Tmprss7 C T 16: 45,482,516 (GRCm39) probably null Het
Tnrc6b A G 15: 80,764,369 (GRCm39) N624D possibly damaging Het
Trpm2 T G 10: 77,778,833 (GRCm39) I378L probably benign Het
Ttn C A 2: 76,554,876 (GRCm39) W30676L probably damaging Het
Ttn A G 2: 76,774,384 (GRCm39) V2220A unknown Het
Uba6 T C 5: 86,302,266 (GRCm39) T134A probably benign Het
Vmn2r55 A G 7: 12,418,678 (GRCm39) S81P probably damaging Het
Zfp616 T A 11: 73,975,548 (GRCm39) S606T probably damaging Het
Zfp653 C A 9: 21,967,155 (GRCm39) A577S 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
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
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 PCR Primer
(F):5'- CGGAACTCAATGAAGGTCCCACTAC -3'
(R):5'- ACGGCTACTCTCCAAACAGGTCAG -3'

Sequencing Primer
(F):5'- actcctttaaccccagcac -3'
(R):5'- TCCAAACAGGTCAGTGCCC -3'
Posted On 2014-04-24