Incidental Mutation 'IGL02502:Pmm2'
ID 296127
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 # IGL02502
Quality Score
Status
Chromosome 16
Chromosomal Location 8455467-8475472 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 8463227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023396] [ENSMUST00000230828]
AlphaFold Q9Z2M7
Predicted Effect probably benign
Transcript: ENSMUST00000023396
SMART Domains Protein: ENSMUSP00000023396
Gene: ENSMUSG00000022711

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 benign
Transcript: ENSMUST00000230828
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 127,917,804 (GRCm39) N216S probably damaging Het
Akap12 A G 10: 4,303,163 (GRCm39) D96G probably damaging Het
Akna A G 4: 63,286,440 (GRCm39) V1353A probably benign Het
Ambra1 A G 2: 91,730,877 (GRCm39) D914G probably damaging Het
Ap1s3 A G 1: 79,601,439 (GRCm39) V84A possibly damaging Het
Arhgef6 T C X: 56,325,623 (GRCm39) E282G probably damaging Het
C2cd2 G T 16: 97,677,590 (GRCm39) S378Y possibly damaging Het
Cd101 C A 3: 100,919,141 (GRCm39) A654S probably damaging Het
Cep295 A C 9: 15,262,209 (GRCm39) probably benign Het
Csn1s1 A G 5: 87,828,784 (GRCm39) I283V probably benign Het
Cst3 A G 2: 148,717,065 (GRCm39) probably benign Het
Cyp2b9 T C 7: 25,887,239 (GRCm39) probably null Het
Dffb A G 4: 154,050,073 (GRCm39) probably benign Het
Dnah10 A G 5: 124,898,351 (GRCm39) Y3711C probably damaging Het
Eif4g2 T C 7: 110,680,748 (GRCm39) S3G probably damaging Het
Erbb3 C T 10: 128,406,153 (GRCm39) R1088H probably benign Het
Evpl T C 11: 116,113,544 (GRCm39) D1382G probably damaging Het
Fam168a A G 7: 100,473,417 (GRCm39) D102G probably damaging Het
Fbxo7 A G 10: 85,869,161 (GRCm39) Y284C probably damaging Het
G6pd2 T C 5: 61,966,971 (GRCm39) Y249H probably damaging Het
Gm1123 A T 9: 98,891,443 (GRCm39) Y335* probably null Het
Gm5624 C T 14: 44,797,296 (GRCm39) probably null Het
Hectd1 A T 12: 51,844,635 (GRCm39) M536K possibly damaging Het
Ikbkg T A X: 73,487,433 (GRCm39) V334E probably benign Het
Ipo7 T C 7: 109,650,257 (GRCm39) L769P probably damaging Het
Jmjd1c A T 10: 67,061,640 (GRCm39) K1331I probably benign Het
Krt32 T C 11: 99,978,749 (GRCm39) K102E probably damaging Het
Lrrc34 A T 3: 30,699,394 (GRCm39) N20K probably benign Het
Lrrc47 A G 4: 154,100,471 (GRCm39) E349G probably benign Het
Mdn1 A G 4: 32,670,579 (GRCm39) I415V possibly damaging Het
Myh10 A G 11: 68,705,198 (GRCm39) probably null Het
Nbeal2 A G 9: 110,462,836 (GRCm39) S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 (GRCm39) probably benign Het
Nherf4 G A 9: 44,160,948 (GRCm39) A206V probably benign Het
Notch3 A T 17: 32,377,252 (GRCm39) C246* probably null Het
Nr3c2 A G 8: 77,969,143 (GRCm39) Y976C probably damaging Het
Or51b17 A G 7: 103,542,696 (GRCm39) V82A probably damaging Het
Or52n4b T A 7: 108,143,846 (GRCm39) M36K probably damaging Het
Or5b122 A G 19: 13,563,112 (GRCm39) Y105C probably damaging Het
P2rx7 C T 5: 122,819,050 (GRCm39) R491C possibly damaging Het
Phex T A X: 155,966,823 (GRCm39) Y625F possibly damaging Het
Pkhd1 T C 1: 20,462,389 (GRCm39) D2055G probably damaging Het
Prdm15 T C 16: 97,640,539 (GRCm39) D16G probably damaging Het
Prune2 T A 19: 17,101,245 (GRCm39) C2250S probably benign Het
Rasgef1a T A 6: 118,057,443 (GRCm39) F48Y probably benign Het
Rhoq T C 17: 87,271,077 (GRCm39) V15A probably damaging Het
Rnf216 G A 5: 143,054,622 (GRCm39) A585V probably damaging Het
Septin9 T A 11: 117,181,488 (GRCm39) I96N probably damaging Het
Shprh T A 10: 11,070,101 (GRCm39) D1492E possibly damaging Het
Slc22a26 A T 19: 7,768,125 (GRCm39) probably null Het
Tek T G 4: 94,741,818 (GRCm39) probably null Het
Tenm3 T C 8: 48,741,051 (GRCm39) E782G probably damaging Het
Trmt5 A G 12: 73,328,001 (GRCm39) C401R probably benign Het
Tspear T G 10: 77,688,792 (GRCm39) probably benign Het
Ubr5 G A 15: 38,030,933 (GRCm39) T414I probably benign Het
Vcl A T 14: 21,069,453 (GRCm39) T710S probably damaging Het
Vmn2r25 A T 6: 123,816,392 (GRCm39) D396E probably damaging Het
Wtip A G 7: 33,818,094 (GRCm39) probably null Het
Zap70 A G 1: 36,817,887 (GRCm39) probably benign Het
Other mutations in Pmm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01453:Pmm2 APN 16 8,466,532 (GRCm39) missense probably damaging 1.00
IGL02184:Pmm2 APN 16 8,455,668 (GRCm39) missense possibly damaging 0.88
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