Incidental Mutation 'R3944:Mpi'
ID 307602
Institutional Source Beutler Lab
Gene Symbol Mpi
Ensembl Gene ENSMUSG00000032306
Gene Name mannose phosphate isomerase
Synonyms Mpi-1, 1110002E17Rik, Mpi1
MMRRC Submission 040925-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3944 (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 57452536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 332 (D332G)
Ref Sequence ENSEMBL: ENSMUSP00000034856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034856] [ENSMUST00000093833] [ENSMUST00000114200]
AlphaFold Q924M7
Predicted Effect probably damaging
Transcript: ENSMUST00000034856
AA Change: D332G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034856
Gene: ENSMUSG00000032306
AA Change: D332G

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: ENSMUST00000124593
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 0.1603 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
6430548M08Rik T C 8: 120,879,241 (GRCm39) L213P probably damaging Het
Akap12 A G 10: 4,307,347 (GRCm39) K1491E probably benign Het
Akr1c12 T A 13: 4,329,339 (GRCm39) H6L probably benign Het
Ankrd50 C T 3: 38,506,645 (GRCm39) C251Y probably benign Het
Bltp1 A G 3: 37,084,210 (GRCm39) I3876V possibly damaging Het
Bltp2 T A 11: 78,160,350 (GRCm39) L603* probably null Het
Calu T C 6: 29,361,710 (GRCm39) S125P possibly damaging Het
Cdh10 A G 15: 18,964,335 (GRCm39) T166A probably benign Het
Clip1 T C 5: 123,755,892 (GRCm39) probably benign Het
Cntn4 T G 6: 106,595,375 (GRCm39) N497K probably benign Het
Cspg4 T A 9: 56,793,407 (GRCm39) C381S probably damaging Het
Cyp1a2 T C 9: 57,589,151 (GRCm39) N221S probably benign Het
Dnaaf5 C T 5: 139,138,679 (GRCm39) probably benign Het
Dnah7b A G 1: 46,176,645 (GRCm39) D755G probably damaging Het
Dscam A T 16: 96,622,197 (GRCm39) V418E probably damaging Het
Eefsec T A 6: 88,275,076 (GRCm39) H296L probably benign Het
Elmo3 T C 8: 106,035,852 (GRCm39) probably null Het
Gcm1 C T 9: 77,967,098 (GRCm39) Q106* probably null Het
Gnl1 G T 17: 36,299,413 (GRCm39) G528V probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
H2-T23 A G 17: 36,341,535 (GRCm39) V312A probably benign Het
Hectd4 C A 5: 121,441,588 (GRCm39) probably benign Het
Hoxa7 T A 6: 52,193,606 (GRCm39) probably benign Het
Ifnlr1 T A 4: 135,428,539 (GRCm39) V122E probably damaging Het
Kcnt2 T C 1: 140,512,025 (GRCm39) M1036T probably damaging Het
Khdc1b G T 1: 21,455,030 (GRCm39) K96N probably damaging Het
Kif19a A T 11: 114,677,561 (GRCm39) Y578F probably benign Het
Krt4 G A 15: 101,829,685 (GRCm39) T281M probably benign Het
Lyl1 A C 8: 85,430,631 (GRCm39) T178P probably damaging Het
Marchf6 A G 15: 31,488,960 (GRCm39) V317A probably benign Het
Mmp1b G A 9: 7,384,708 (GRCm39) T280I possibly damaging Het
Naip6 T C 13: 100,431,247 (GRCm39) T1197A probably benign Het
Ntng2 G A 2: 29,094,289 (GRCm39) L361F probably benign Het
Obscn A T 11: 59,023,373 (GRCm39) I668N probably damaging Het
Or52x1 A T 7: 104,853,162 (GRCm39) C129* probably null Het
Or8k40 A G 2: 86,584,525 (GRCm39) S186P probably benign Het
Pabpc1l A G 2: 163,884,247 (GRCm39) E328G probably damaging Het
Pan3 A T 5: 147,387,540 (GRCm39) N170Y probably damaging Het
Prdm2 C T 4: 142,858,385 (GRCm39) R1635Q possibly damaging Het
Rassf6 G T 5: 90,752,185 (GRCm39) Q258K possibly damaging Het
Ribc2 A G 15: 85,019,451 (GRCm39) M78V probably benign Het
Rp9 A C 9: 22,361,154 (GRCm39) H44Q probably damaging Het
Skint5 T A 4: 113,799,950 (GRCm39) H73L probably damaging Het
Slc6a12 A T 6: 121,331,239 (GRCm39) probably null Het
Smg6 G A 11: 74,820,367 (GRCm39) G213R probably damaging Het
Spout1 A G 2: 30,064,148 (GRCm39) V372A probably benign Het
Svep1 T A 4: 58,084,807 (GRCm39) probably null Het
Tab1 T C 15: 80,037,941 (GRCm39) L258P probably damaging Het
Tbl3 A G 17: 24,919,682 (GRCm39) S791P possibly damaging Het
Tcof1 C A 18: 60,955,909 (GRCm39) D927Y probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Topaz1 T C 9: 122,579,669 (GRCm39) S860P possibly damaging Het
Vill T C 9: 118,897,499 (GRCm39) I258T probably benign Het
Vmn1r204 G A 13: 22,741,014 (GRCm39) R215H probably benign Het
Vmn2r106 A T 17: 20,487,913 (GRCm39) F829I probably damaging Het
Vmn2r14 A T 5: 109,363,930 (GRCm39) I662N probably damaging Het
Vmn2r58 A T 7: 41,513,885 (GRCm39) F253I probably benign Het
Vps8 A T 16: 21,288,873 (GRCm39) N411Y probably damaging Het
Zfp932 T A 5: 110,157,820 (GRCm39) V506E 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
R3727:Mpi UTSW 9 57,452,132 (GRCm39) missense possibly damaging 0.69
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'- ACTACGAAGGCCCACATCTG -3'
(R):5'- GGCGTACTTCACCATCTTATTACATG -3'

Sequencing Primer
(F):5'- ATCTGGTCCCTGGCAGAGAG -3'
(R):5'- GACATTTCTCTGTCTCTAGACTGCG -3'
Posted On 2015-04-17