Incidental Mutation 'R3727:Mpi'
ID 270837
Institutional Source Beutler Lab
Gene Symbol Mpi
Ensembl Gene ENSMUSG00000032306
Gene Name mannose phosphate isomerase
Synonyms Mpi-1, 1110002E17Rik, Mpi1
MMRRC Submission 040718-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3727 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57451539-57460046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57452132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 381 (I381M)
Ref Sequence ENSEMBL: ENSMUSP00000034856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034856] [ENSMUST00000093833] [ENSMUST00000114200]
AlphaFold Q924M7
Predicted Effect possibly damaging
Transcript: ENSMUST00000034856
AA Change: I381M

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034856
Gene: ENSMUSG00000032306
AA Change: I381M

DomainStartEndE-ValueType
Pfam:PMI_typeI 6 384 4.3e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093833
SMART Domains Protein: ENSMUSP00000091353
Gene: ENSMUSG00000032305

DomainStartEndE-ValueType
Pfam:FAM219A 72 128 4.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114200
SMART Domains Protein: ENSMUSP00000109838
Gene: ENSMUSG00000032305

DomainStartEndE-ValueType
Pfam:FAM219A 72 197 1.6e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145543
Predicted Effect probably benign
Transcript: ENSMUST00000156428
SMART Domains Protein: ENSMUSP00000119342
Gene: ENSMUSG00000032306

DomainStartEndE-ValueType
Pfam:PMI_typeI 3 119 3.1e-45 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, variable abnormalities of the yolk sac and embryonic vasculature, and partial penetrance of abnormal chorioallantoic fusion, placental defects, impaired emrbyo turning, increased apoptosis, and posterior axial truncations. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, other(2) Gene trapped(4)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 C T 15: 72,985,706 (GRCm39) V630M probably damaging Het
Alk T C 17: 72,208,395 (GRCm39) probably benign Het
Atp6v0a1 T A 11: 100,921,246 (GRCm39) S243T probably benign Het
BC035044 C A 6: 128,867,822 (GRCm39) G37* probably null Het
C3 G T 17: 57,514,379 (GRCm39) N1435K possibly damaging Het
Caly T C 7: 139,650,417 (GRCm39) E175G probably damaging Het
Ccng2 T C 5: 93,422,810 (GRCm39) F330S probably damaging Het
Cemip2 G A 19: 21,822,075 (GRCm39) A1157T probably benign Het
Cyp2c38 A G 19: 39,380,739 (GRCm39) probably benign Het
Cypt1 T A X: 16,389,674 (GRCm39) L128* probably null Het
Dmgdh A G 13: 93,828,575 (GRCm39) N239D probably damaging Het
Dnah8 C T 17: 30,958,622 (GRCm39) Q2155* probably null Het
Dpp3 A G 19: 4,973,213 (GRCm39) I127T probably benign Het
Eps15 G T 4: 109,227,882 (GRCm39) probably benign Het
Exosc10 A G 4: 148,649,734 (GRCm39) D388G probably damaging Het
Flt3 C A 5: 147,291,733 (GRCm39) R572S probably damaging Het
Gm44501 T C 17: 40,887,506 (GRCm39) F8S unknown Het
Hormad2 C A 11: 4,358,598 (GRCm39) G270C probably benign Het
Ifrd2 C T 9: 107,468,881 (GRCm39) R40* probably null Het
Ina G A 19: 47,004,158 (GRCm39) R322H possibly damaging Het
Kif13b A G 14: 65,003,197 (GRCm39) probably benign Het
Lrp2 T C 2: 69,340,773 (GRCm39) N1034S probably damaging Het
Macf1 T A 4: 123,353,104 (GRCm39) E1770V probably damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nt5c C T 11: 115,381,474 (GRCm39) W185* probably null Het
Or2j3 A T 17: 38,616,310 (GRCm39) I14N possibly damaging Het
Or2y1e G A 11: 49,218,622 (GRCm39) R128H probably benign Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Pdzrn3 T A 6: 101,133,906 (GRCm39) D441V probably damaging Het
Rab42 A G 4: 132,029,964 (GRCm39) M86T probably benign Het
Slc52a3 C T 2: 151,847,701 (GRCm39) P270S probably benign Het
Stpg2 T C 3: 139,004,257 (GRCm39) F278S probably damaging Het
Styxl2 G A 1: 165,927,075 (GRCm39) R846C probably damaging Het
Tmem240 T C 4: 155,824,235 (GRCm39) probably benign Het
Vmn2r22 A G 6: 123,627,584 (GRCm39) L4P possibly damaging Het
Vmn2r95 C T 17: 18,661,744 (GRCm39) Q497* probably null Het
Wnk1 T C 6: 119,969,414 (GRCm39) H347R probably damaging Het
Zmym2 A T 14: 57,156,806 (GRCm39) probably benign Het
Other mutations in Mpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Mpi APN 9 57,459,549 (GRCm39) missense probably damaging 1.00
IGL01071:Mpi APN 9 57,457,875 (GRCm39) missense probably damaging 1.00
IGL01604:Mpi APN 9 57,458,025 (GRCm39) missense possibly damaging 0.85
IGL02090:Mpi APN 9 57,457,936 (GRCm39) missense probably benign 0.00
benadryl UTSW 9 57,458,040 (GRCm39) missense probably damaging 1.00
sleepies UTSW 9 57,452,472 (GRCm39) unclassified probably benign
Zyrtec UTSW 9 57,452,500 (GRCm39) missense probably damaging 1.00
F6893:Mpi UTSW 9 57,453,832 (GRCm39) missense probably benign 0.12
R0751:Mpi UTSW 9 57,457,897 (GRCm39) missense probably damaging 1.00
R1146:Mpi UTSW 9 57,452,472 (GRCm39) unclassified probably benign
R3944:Mpi UTSW 9 57,452,536 (GRCm39) missense probably damaging 1.00
R4645:Mpi UTSW 9 57,458,040 (GRCm39) missense probably damaging 1.00
R4772:Mpi UTSW 9 57,452,181 (GRCm39) missense probably damaging 1.00
R4856:Mpi UTSW 9 57,452,590 (GRCm39) missense probably damaging 1.00
R5088:Mpi UTSW 9 57,457,887 (GRCm39) missense probably damaging 0.97
R5504:Mpi UTSW 9 57,452,500 (GRCm39) missense probably damaging 1.00
R5886:Mpi UTSW 9 57,455,745 (GRCm39) unclassified probably benign
R7038:Mpi UTSW 9 57,452,500 (GRCm39) missense probably damaging 1.00
R7953:Mpi UTSW 9 57,457,881 (GRCm39) missense probably damaging 1.00
R8043:Mpi UTSW 9 57,457,881 (GRCm39) missense probably damaging 1.00
R8296:Mpi UTSW 9 57,455,954 (GRCm39) missense probably benign 0.00
R8436:Mpi UTSW 9 57,452,200 (GRCm39) missense probably damaging 1.00
R9696:Mpi UTSW 9 57,452,539 (GRCm39) missense probably benign 0.01
R9742:Mpi UTSW 9 57,452,606 (GRCm39) missense probably damaging 1.00
RF013:Mpi UTSW 9 57,455,924 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- GATTGGGCTACACCTGAAATATGG -3'
(R):5'- CTTCGTAGTGCCAAGAGCTTG -3'

Sequencing Primer
(F):5'- CTACACCTGAAATATGGAGCTGGC -3'
(R):5'- TCGTAGTGCCAAGAGCTTGAATAATG -3'
Posted On 2015-03-18