Incidental Mutation 'IGL01453:Pmm2'
ID 84704
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 # IGL01453
Quality Score
Status
Chromosome 16
Chromosomal Location 8455467-8475472 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8466532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 119 (R119Q)
Ref Sequence ENSEMBL: ENSMUSP00000155554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023396] [ENSMUST00000230828]
AlphaFold Q9Z2M7
Predicted Effect probably damaging
Transcript: ENSMUST00000023396
AA Change: R119Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023396
Gene: ENSMUSG00000022711
AA Change: R119Q

DomainStartEndE-ValueType
Pfam:Hydrolase_3 5 229 1.6e-11 PFAM
Pfam:PMM 24 242 6.7e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143174
Predicted Effect probably damaging
Transcript: ENSMUST00000230828
AA Change: R119Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,353,834 (GRCm39) T3719A probably damaging Het
Abcb5 A G 12: 118,831,705 (GRCm39) S1216P probably damaging Het
Abl1 A G 2: 31,668,989 (GRCm39) T104A probably damaging Het
Adgrg6 A T 10: 14,296,202 (GRCm39) M1066K possibly damaging Het
Armc1 T C 3: 19,198,594 (GRCm39) N122S probably benign Het
Fat1 C T 8: 45,504,307 (GRCm39) T4600M probably damaging Het
Hrh1 T A 6: 114,458,123 (GRCm39) I468N probably damaging Het
Krt34 A T 11: 99,930,916 (GRCm39) L162Q probably damaging Het
Macrod2 A T 2: 140,294,492 (GRCm39) probably benign Het
Mfsd9 C A 1: 40,829,638 (GRCm39) probably benign Het
Nap1l1 C T 10: 111,328,839 (GRCm39) T256I probably benign Het
Or12e1 A G 2: 87,022,192 (GRCm39) I54V probably benign Het
Or5h22 T C 16: 58,895,132 (GRCm39) I104V probably benign Het
Or6k4 A G 1: 173,964,679 (GRCm39) Y123C possibly damaging Het
Pard6a T A 8: 106,429,309 (GRCm39) probably null Het
Por C T 5: 135,763,040 (GRCm39) Q517* probably null Het
Ppil6 T C 10: 41,374,473 (GRCm39) I118T probably benign Het
Psg26 A G 7: 18,213,999 (GRCm39) V221A possibly damaging Het
Ptpru C A 4: 131,496,803 (GRCm39) probably benign Het
Rpl27a T A 7: 109,118,832 (GRCm39) V15E probably benign Het
Setd1b T C 5: 123,296,527 (GRCm39) probably benign Het
Slc17a1 A G 13: 24,058,714 (GRCm39) N56S probably damaging Het
Sybu A T 15: 44,536,201 (GRCm39) D508E probably damaging Het
Tada2b A C 5: 36,633,686 (GRCm39) N222K probably damaging Het
Tbcb T C 7: 29,930,627 (GRCm39) probably null Het
Tmprss11f C A 5: 86,692,691 (GRCm39) G78* probably null Het
Vmn2r65 T C 7: 84,589,708 (GRCm39) Y736C probably damaging Het
Zc3h7a G A 16: 10,967,242 (GRCm39) P517S probably benign Het
Zfp280d A G 9: 72,229,868 (GRCm39) T392A possibly damaging Het
Zfp318 T A 17: 46,719,942 (GRCm39) probably null Het
Other mutations in Pmm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02184:Pmm2 APN 16 8,455,668 (GRCm39) missense possibly damaging 0.88
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 2013-11-11