Incidental Mutation 'R6660:Pmm2'
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ID526817
Institutional Source Beutler Lab
Gene Symbol Pmm2
Ensembl Gene ENSMUSG00000022711
Gene Namephosphomannomutase 2
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6660 (G1)
Quality Score140.008
Status Not validated
Chromosome16
Chromosomal Location8637674-8662467 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8655642 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 240 (L240P)
Ref Sequence ENSEMBL: ENSMUSP00000155554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008537] [ENSMUST00000023396] [ENSMUST00000230828]
Predicted Effect probably benign
Transcript: ENSMUST00000008537
SMART Domains Protein: ENSMUSP00000008537
Gene: ENSMUSG00000008393

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
CSP 65 130 1.12e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000023396
AA Change: L240P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023396
Gene: ENSMUSG00000022711
AA Change: L240P

DomainStartEndE-ValueType
Pfam:Hydrolase_3 5 229 1.6e-11 PFAM
Pfam:PMM 24 242 6.7e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134975
Predicted Effect probably damaging
Transcript: ENSMUST00000230828
AA Change: L240P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.5%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg1 A T 11: 120,346,755 I289N probably damaging Het
Atg5 A G 10: 44,294,655 N99S probably benign Het
Ccdc88a A G 11: 29,482,663 Q1223R probably benign Het
Cdc42 T C 4: 137,328,834 D122G probably benign Het
Cpxm1 A G 2: 130,396,149 S127P probably damaging Het
Cyfip2 A G 11: 46,249,807 C730R possibly damaging Het
Ddx60 T A 8: 61,956,239 H436Q probably benign Het
Dnah17 T C 11: 118,100,188 Y1236C probably benign Het
Ep400 G A 5: 110,719,447 R1000* probably null Het
Ergic3 A G 2: 156,017,834 I227V probably damaging Het
Fam227b G T 2: 126,144,307 P13Q probably damaging Het
Fam71d T C 12: 78,715,357 V265A possibly damaging Het
Gal A G 19: 3,410,108 L121P possibly damaging Het
Ifi207 T C 1: 173,729,406 T589A probably benign Het
Intu T C 3: 40,531,951 V27A probably benign Het
Lama1 A T 17: 67,804,500 I2249L probably benign Het
Pdc T C 1: 150,333,335 Y190H probably damaging Het
Polr1a T C 6: 71,967,374 V1275A probably damaging Het
Rgsl1 T A 1: 153,825,766 N314I possibly damaging Het
Rpe65 A T 3: 159,614,708 N301Y probably damaging Het
Ryr1 A G 7: 29,038,345 probably null Het
Sh3bp4 A G 1: 89,153,166 S902G possibly damaging Het
Slc44a4 A T 17: 34,930,225 R705W probably damaging Het
Slc4a10 A G 2: 62,250,403 I325V possibly damaging Het
Spns1 A G 7: 126,375,065 probably null Het
Syt6 T G 3: 103,625,644 L363R probably damaging Het
Ttn A G 2: 76,714,415 V32781A probably benign Het
Ube2l6 A G 2: 84,806,508 T99A probably damaging Het
Unc13b A T 4: 43,177,412 probably benign Het
Vmn1r189 A T 13: 22,101,896 L257H possibly damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Zfpm2 T C 15: 40,655,585 probably null Het
Other mutations in Pmm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01453:Pmm2 APN 16 8648668 missense probably damaging 1.00
IGL02184:Pmm2 APN 16 8637804 missense possibly damaging 0.88
IGL02502:Pmm2 APN 16 8645363 splice site probably benign
R0970:Pmm2 UTSW 16 8642776 missense probably damaging 1.00
R7056:Pmm2 UTSW 16 8642764 missense probably damaging 1.00
R7694:Pmm2 UTSW 16 8645390 missense probably damaging 1.00
R7857:Pmm2 UTSW 16 8642768 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AACCTCTCTAAGATGGGAGCG -3'
(R):5'- TTCTGTCTCTGAGGTCCCTGAG -3'

Sequencing Primer
(F):5'- CTCTCTAAGATGGGAGCGTCAGG -3'
(R):5'- AGACATGGTCTCATTCTGCCTCAG -3'
Posted On2018-07-23