Incidental Mutation 'IGL02184:Pmm2'
ID 284260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pmm2
Ensembl Gene ENSMUSG00000022711
Gene Name phosphomannomutase 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02184
Quality Score
Status
Chromosome 16
Chromosomal Location 8455467-8475472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8455668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 10 (D10E)
Ref Sequence ENSEMBL: ENSMUSP00000155554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023396] [ENSMUST00000052505] [ENSMUST00000230828]
AlphaFold Q9Z2M7
Predicted Effect possibly damaging
Transcript: ENSMUST00000023396
AA Change: D10E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023396
Gene: ENSMUSG00000022711
AA Change: D10E

DomainStartEndE-ValueType
Pfam:Hydrolase_3 5 229 1.6e-11 PFAM
Pfam:PMM 24 242 6.7e-115 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052505
SMART Domains Protein: ENSMUSP00000053862
Gene: ENSMUSG00000043140

DomainStartEndE-ValueType
transmembrane domain 69 91 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143174
Predicted Effect possibly damaging
Transcript: ENSMUST00000230828
AA Change: D10E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality around E2.5. Transmission of the maternal null allele is severely impaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 C T 3: 89,253,241 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Aopep T G 13: 63,215,925 (GRCm39) I399S possibly damaging Het
Atp8b3 A C 10: 80,363,067 (GRCm39) probably benign Het
Brwd1 A T 16: 95,815,029 (GRCm39) M1417K probably damaging Het
Camk2d A T 3: 126,591,422 (GRCm39) R297S probably damaging Het
Cntnap1 A T 11: 101,069,191 (GRCm39) H215L probably damaging Het
Cytip T C 2: 58,023,750 (GRCm39) S357G probably damaging Het
Eif1ad15 T C 12: 88,287,951 (GRCm39) R101G probably benign Het
Fancg A G 4: 43,006,872 (GRCm39) Y273H possibly damaging Het
Fbxo36 A G 1: 84,858,885 (GRCm39) S57G probably benign Het
Fgf8 A T 19: 45,725,655 (GRCm39) L141Q probably damaging Het
Grm5 C T 7: 87,675,650 (GRCm39) T388M probably damaging Het
Hipk1 A G 3: 103,666,066 (GRCm39) L589P possibly damaging Het
Kiz T C 2: 146,731,520 (GRCm39) S337P probably benign Het
Lrrc37a A T 11: 103,388,435 (GRCm39) I2330K unknown Het
Mdfic T A 6: 15,770,366 (GRCm39) I124K possibly damaging Het
Mdfic2 T C 6: 98,225,059 (GRCm39) S75G possibly damaging Het
Mttp A G 3: 137,821,761 (GRCm39) probably null Het
Myom1 G A 17: 71,379,132 (GRCm39) S632N possibly damaging Het
Nlrp12 T C 7: 3,289,094 (GRCm39) K473E probably damaging Het
Nrp2 C A 1: 62,758,099 (GRCm39) C28* probably null Het
Nwd2 G T 5: 63,963,020 (GRCm39) G868V probably damaging Het
Or4a73 G A 2: 89,420,637 (GRCm39) T274I probably damaging Het
Or4c58 G A 2: 89,674,729 (GRCm39) A196V probably damaging Het
Or5w1 A G 2: 87,487,136 (GRCm39) L43P probably damaging Het
Pappa A T 4: 65,258,928 (GRCm39) M1559L possibly damaging Het
Polm T C 11: 5,780,137 (GRCm39) Q300R probably benign Het
Prrc2b T A 2: 32,111,467 (GRCm39) N1208K probably benign Het
Serpinb3c T C 1: 107,199,648 (GRCm39) D291G probably damaging Het
Skic3 A G 13: 76,259,810 (GRCm39) K37E probably damaging Het
Slc1a2 T C 2: 102,578,889 (GRCm39) F268S probably damaging Het
Slc26a4 A G 12: 31,599,948 (GRCm39) Y127H probably damaging Het
Slc29a4 A G 5: 142,703,506 (GRCm39) Y260C probably damaging Het
Sorbs3 C T 14: 70,421,455 (GRCm39) probably null Het
Spen T C 4: 141,214,917 (GRCm39) Y534C unknown Het
Tmem237 T C 1: 59,159,270 (GRCm39) probably null Het
Tnfrsf21 A T 17: 43,396,354 (GRCm39) N546I probably benign Het
Tpgs2 T A 18: 25,273,630 (GRCm39) D177V probably damaging Het
Tpx2 C T 2: 152,724,240 (GRCm39) R339* probably null Het
Trim12c T C 7: 103,997,430 (GRCm39) Y42C probably benign Het
Trip10 A T 17: 57,564,272 (GRCm39) E341V probably damaging Het
Trpm8 A T 1: 88,258,416 (GRCm39) probably null Het
Ubr1 T A 2: 120,730,989 (GRCm39) I1221F probably benign Het
Ucp2 C T 7: 100,148,529 (GRCm39) A301V probably benign Het
Zfyve1 T C 12: 83,605,467 (GRCm39) I411V probably benign Het
Other mutations in Pmm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01453:Pmm2 APN 16 8,466,532 (GRCm39) missense probably damaging 1.00
IGL02502:Pmm2 APN 16 8,463,227 (GRCm39) splice site probably benign
R0970:Pmm2 UTSW 16 8,460,640 (GRCm39) missense probably damaging 1.00
R6660:Pmm2 UTSW 16 8,473,506 (GRCm39) missense probably damaging 1.00
R7056:Pmm2 UTSW 16 8,460,628 (GRCm39) missense probably damaging 1.00
R7694:Pmm2 UTSW 16 8,463,254 (GRCm39) missense probably damaging 1.00
R7857:Pmm2 UTSW 16 8,460,632 (GRCm39) missense probably benign 0.02
R9714:Pmm2 UTSW 16 8,473,506 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16