Incidental Mutation 'R9696:Mpi'
ID 729296
Institutional Source Beutler Lab
Gene Symbol Mpi
Ensembl Gene ENSMUSG00000032306
Gene Name mannose phosphate isomerase
Synonyms Mpi-1, 1110002E17Rik, Mpi1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 57451539-57460046 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57452539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 331 (D331G)
Ref Sequence ENSEMBL: ENSMUSP00000034856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034856] [ENSMUST00000093833] [ENSMUST00000114200]
AlphaFold Q924M7
Predicted Effect probably benign
Transcript: ENSMUST00000034856
AA Change: D331G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000034856
Gene: ENSMUSG00000032306
AA Change: D331G

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 probably benign
Transcript: ENSMUST00000156428
SMART Domains Protein: ENSMUSP00000119342
Gene: ENSMUSG00000032306

DomainStartEndE-ValueType
Pfam:PMI_typeI 3 119 3.1e-45 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T C 2: 30,691,256 (GRCm39) D105G possibly damaging Het
4930407I10Rik A G 15: 81,949,697 (GRCm39) N1198S probably benign Het
Abca14 A T 7: 119,888,734 (GRCm39) I1227F possibly damaging Het
Abhd10 T C 16: 45,552,042 (GRCm39) D277G probably damaging Het
Adam20 A G 8: 41,249,633 (GRCm39) N581S probably damaging Het
Apbb1ip A T 2: 22,725,989 (GRCm39) T254S probably benign Het
Arap3 T C 18: 38,112,905 (GRCm39) T1102A probably damaging Het
Asb16 A T 11: 102,159,766 (GRCm39) R40W probably damaging Het
Birc6 T A 17: 74,947,292 (GRCm39) S3019T probably damaging Het
Btbd18 T A 2: 84,497,854 (GRCm39) C497* probably null Het
Cacna1h T C 17: 25,602,215 (GRCm39) M1542V possibly damaging Het
Ccdc8 T G 7: 16,730,087 (GRCm39) S525R unknown Het
Ch25h G A 19: 34,451,947 (GRCm39) R194W probably damaging Het
Ciapin1 C A 8: 95,555,065 (GRCm39) L130F probably damaging Het
Cnfn G T 7: 25,067,515 (GRCm39) T54N probably damaging Het
Cop1 A T 1: 159,076,783 (GRCm39) I195F probably damaging Het
Daam1 A G 12: 71,991,147 (GRCm39) R254G unknown Het
Dcaf13 T C 15: 39,001,496 (GRCm39) M268T possibly damaging Het
Disp3 C A 4: 148,345,611 (GRCm39) V410L probably damaging Het
Dus4l A T 12: 31,696,647 (GRCm39) I110K probably damaging Het
Endov C T 11: 119,398,048 (GRCm39) P271L probably damaging Het
Epha2 A G 4: 141,047,834 (GRCm39) I539V probably benign Het
Ercc4 A T 16: 12,950,810 (GRCm39) I635L probably damaging Het
Exosc10 A G 4: 148,649,704 (GRCm39) D378G probably damaging Het
Fmnl1 A G 11: 103,086,297 (GRCm39) D804G unknown Het
Gm11983 T A 11: 6,787,020 (GRCm39) I36F unknown Het
Gm11992 A T 11: 9,006,438 (GRCm39) I123L probably benign Het
Gm19965 T C 1: 116,730,838 (GRCm39) probably benign Het
Gm19965 A G 1: 116,749,210 (GRCm39) D297G Het
Gpr180 G A 14: 118,391,302 (GRCm39) G235R probably damaging Het
Gse1 T C 8: 120,956,280 (GRCm39) V257A unknown Het
Haus1 A T 18: 77,847,202 (GRCm39) S225T probably benign Het
Hgf A G 5: 16,777,534 (GRCm39) Y177C probably damaging Het
Insig1 T C 5: 28,279,546 (GRCm39) W184R probably damaging Het
Krt5 A T 15: 101,616,141 (GRCm39) S491R unknown Het
Lcn5 A G 2: 25,550,142 (GRCm39) I110V probably benign Het
Lin9 A T 1: 180,496,733 (GRCm39) S341C possibly damaging Het
Magi2 C T 5: 20,670,864 (GRCm39) H403Y probably benign Het
Mapk1ip1l C T 14: 47,548,340 (GRCm39) P163S probably damaging Het
Mbtd1 A G 11: 93,823,218 (GRCm39) D568G probably damaging Het
Mdp1 A G 14: 55,896,704 (GRCm39) V119A probably benign Het
Me1 A G 9: 86,469,047 (GRCm39) I506T probably damaging Het
Med1 A G 11: 98,061,772 (GRCm39) probably null Het
Med25 T A 7: 44,529,524 (GRCm39) Q656L probably benign Het
Memo1 A C 17: 74,524,041 (GRCm39) I213S probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Muc4 T C 16: 32,574,712 (GRCm39) I1054T probably benign Het
Nat10 T C 2: 103,556,040 (GRCm39) E927G possibly damaging Het
Nlrp9a T C 7: 26,275,033 (GRCm39) L930P unknown Het
Nt5c3b A T 11: 100,323,811 (GRCm39) I167N probably damaging Het
Ogdh T C 11: 6,289,209 (GRCm39) S308P probably damaging Het
Or2y1b A G 11: 49,208,390 (GRCm39) I6V probably benign Het
Or4c108 T G 2: 88,803,615 (GRCm39) I207L probably benign Het
Or52e5 T A 7: 104,719,283 (GRCm39) V203D probably damaging Het
Or8b9 G A 9: 37,766,671 (GRCm39) E186K probably benign Het
Parl A G 16: 20,105,690 (GRCm39) V244A probably benign Het
Parp14 G T 16: 35,661,252 (GRCm39) D1565E probably damaging Het
Parp14 T C 16: 35,661,251 (GRCm39) K1566E possibly damaging Het
Pcdhb18 T A 18: 37,623,606 (GRCm39) I312K possibly damaging Het
Pcnp A T 16: 55,844,867 (GRCm39) probably benign Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Rab10 T A 12: 3,306,947 (GRCm39) M83L probably benign Het
Rabep1 A G 11: 70,814,029 (GRCm39) S616G probably benign Het
Rnf213 G A 11: 119,359,806 (GRCm39) V4400M Het
Samd9l T A 6: 3,375,078 (GRCm39) I728F possibly damaging Het
Scaf4 T A 16: 90,044,122 (GRCm39) D620V unknown Het
Scnn1b A T 7: 121,498,462 (GRCm39) M1L probably damaging Het
Sec23b T A 2: 144,428,343 (GRCm39) M652K probably benign Het
Selenoi T C 5: 30,453,413 (GRCm39) F44L probably benign Het
Slc36a3 A T 11: 55,026,161 (GRCm39) V219E possibly damaging Het
Sncaip A T 18: 53,038,915 (GRCm39) Q543L probably damaging Het
Stmnd1 A G 13: 46,443,224 (GRCm39) I119V probably damaging Het
Strn3 T A 12: 51,676,286 (GRCm39) E414D probably damaging Het
Syne1 T A 10: 5,297,847 (GRCm39) H1150L probably benign Het
Tdrd7 A G 4: 46,016,888 (GRCm39) N676S possibly damaging Het
Tgs1 A T 4: 3,575,071 (GRCm39) I16F possibly damaging Het
Thnsl2 T G 6: 71,108,930 (GRCm39) T294P possibly damaging Het
Tmem156 A G 5: 65,231,147 (GRCm39) I241T possibly damaging Het
Unc13a A T 8: 72,082,197 (GRCm39) M1689K possibly damaging Het
Uri1 T C 7: 37,664,738 (GRCm39) D318G probably benign Het
Vmn2r86 T A 10: 130,285,702 (GRCm39) Q491L possibly damaging Het
Vps13b C A 15: 35,675,033 (GRCm39) Q1718K possibly damaging 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
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
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'- GCGTACTTCACCATCTTATTACATG -3'

Sequencing Primer
(F):5'- ATCTGGTCCCTGGCAGAGAG -3'
(R):5'- GACATTTCTCTGTCTCTAGACTGCG -3'
Posted On 2022-10-06