Incidental Mutation 'R8144:Poglut2'
ID 632672
Institutional Source Beutler Lab
Gene Symbol Poglut2
Ensembl Gene ENSMUSG00000026047
Gene Name protein O-glucosyltransferase 2
Synonyms 5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik
MMRRC Submission 067572-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R8144 (G1)
Quality Score 216.009
Status Validated
Chromosome 1
Chromosomal Location 44145706-44157968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44149966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 408 (Y408H)
Ref Sequence ENSEMBL: ENSMUSP00000064500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027213] [ENSMUST00000065767] [ENSMUST00000152643]
AlphaFold Q9JHP7
Predicted Effect probably benign
Transcript: ENSMUST00000027213
SMART Domains Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG_FLMN 28 130 3.16e-16 SMART
CAP10 226 400 1.65e-51 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000065767
AA Change: Y408H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: Y408H

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG_FLMN 28 130 3.16e-16 SMART
CAP10 226 470 4.81e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152643
SMART Domains Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG_FLMN 28 133 9.21e-18 SMART
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.4%
  • 10x: 98.0%
  • 20x: 90.8%
Validation Efficiency 96% (50/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A C 9: 57,166,388 (GRCm39) probably benign Het
A2ml1 T C 6: 128,546,962 (GRCm39) D389G possibly damaging Het
Acy1 A T 9: 106,313,319 (GRCm39) probably null Het
Adcy2 G A 13: 68,882,754 (GRCm39) Q328* probably null Het
Arhgef40 T A 14: 52,235,632 (GRCm39) V1171E probably damaging Het
Arrb1 G A 7: 99,247,659 (GRCm39) probably null Het
Atxn1l G A 8: 110,459,233 (GRCm39) A343V probably benign Het
C3 A T 17: 57,533,276 (GRCm39) V109E probably damaging Het
Clptm1 A T 7: 19,367,827 (GRCm39) V595E possibly damaging Het
Cpne6 T C 14: 55,750,066 (GRCm39) C66R possibly damaging Het
Dhrs3 T C 4: 144,646,474 (GRCm39) S175P probably damaging Het
Eif2b1 A T 5: 124,711,208 (GRCm39) M187K probably damaging Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Evc2 T C 5: 37,537,911 (GRCm39) L533P probably damaging Het
Fam221b T G 4: 43,665,465 (GRCm39) Q331P probably damaging Het
Fam221b G T 4: 43,665,466 (GRCm39) Q331K probably benign Het
Golga3 T C 5: 110,333,745 (GRCm39) V127A probably damaging Het
Itsn1 C T 16: 91,708,893 (GRCm39) P1719L unknown Het
Lars1 T G 18: 42,351,591 (GRCm39) H871P probably damaging Het
Mamdc4 A T 2: 25,457,019 (GRCm39) V590E probably damaging Het
Mdga2 A G 12: 66,702,037 (GRCm39) I457T probably damaging Het
Morc2a T C 11: 3,634,039 (GRCm39) V717A probably benign Het
Or1p1c C A 11: 74,160,384 (GRCm39) H56Q probably damaging Het
Or8d2b A T 9: 38,788,662 (GRCm39) L63F probably damaging Het
Pank4 A T 4: 155,054,537 (GRCm39) Q170L probably benign Het
Pde4dip G T 3: 97,622,742 (GRCm39) A1489D probably damaging Het
Pde8b A T 13: 95,359,278 (GRCm39) I15N probably damaging Het
Pex16 A C 2: 92,205,985 (GRCm39) E26A probably damaging Het
Polq C T 16: 36,849,846 (GRCm39) P367S probably benign Het
Polr1a T A 6: 71,927,600 (GRCm39) V817E probably benign Het
Pthlh T C 6: 147,158,663 (GRCm39) D99G probably damaging Het
Rasgrp4 A T 7: 28,848,542 (GRCm39) S556C probably damaging Het
Rhobtb1 G T 10: 69,125,388 (GRCm39) V653L possibly damaging Het
Rin2 G A 2: 145,664,225 (GRCm39) R33Q probably benign Het
Rmc1 A T 18: 12,318,704 (GRCm39) probably null Het
Sh3rf2 C T 18: 42,274,124 (GRCm39) T430I probably benign Het
Slc14a2 A G 18: 78,227,759 (GRCm39) probably null Het
Slc39a8 C T 3: 135,590,404 (GRCm39) Q366* probably null Het
Spata31h1 A T 10: 82,130,433 (GRCm39) L859* probably null Het
Tagln3 G T 16: 45,544,554 (GRCm39) A39D probably benign Het
Tfdp1 T A 8: 13,423,015 (GRCm39) C307S probably benign Het
Tlr11 T C 14: 50,599,945 (GRCm39) S644P probably damaging Het
Tnpo3 T C 6: 29,558,761 (GRCm39) D723G probably benign Het
Xpo5 A G 17: 46,519,145 (GRCm39) N195D probably benign Het
Zfp11 T C 5: 129,733,694 (GRCm39) Y589C possibly damaging Het
Zfp712 T C 13: 67,189,172 (GRCm39) T452A probably benign Het
Other mutations in Poglut2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Poglut2 APN 1 44,150,094 (GRCm39) missense probably damaging 1.00
IGL03185:Poglut2 APN 1 44,156,359 (GRCm39) missense probably benign 0.05
R0480:Poglut2 UTSW 1 44,149,917 (GRCm39) nonsense probably null
R4617:Poglut2 UTSW 1 44,149,180 (GRCm39) missense probably damaging 0.99
R5534:Poglut2 UTSW 1 44,151,837 (GRCm39) missense probably damaging 1.00
R5884:Poglut2 UTSW 1 44,156,260 (GRCm39) missense probably benign 0.00
R6044:Poglut2 UTSW 1 44,153,611 (GRCm39) nonsense probably null
R6755:Poglut2 UTSW 1 44,149,894 (GRCm39) critical splice donor site probably null
R6855:Poglut2 UTSW 1 44,149,987 (GRCm39) nonsense probably null
R6955:Poglut2 UTSW 1 44,156,257 (GRCm39) missense probably damaging 1.00
R7755:Poglut2 UTSW 1 44,157,733 (GRCm39) unclassified probably benign
R8245:Poglut2 UTSW 1 44,156,226 (GRCm39) missense probably benign 0.02
R8993:Poglut2 UTSW 1 44,151,924 (GRCm39) missense possibly damaging 0.83
R9023:Poglut2 UTSW 1 44,153,925 (GRCm39) missense possibly damaging 0.49
R9081:Poglut2 UTSW 1 44,153,966 (GRCm39) missense probably benign 0.19
R9300:Poglut2 UTSW 1 44,156,362 (GRCm39) missense possibly damaging 0.67
R9634:Poglut2 UTSW 1 44,152,196 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGCGGTATCTGAACATCCC -3'
(R):5'- CTGAGGATGGCAAAATGGTTC -3'

Sequencing Primer
(F):5'- GTATCTGAACATCCCAGAGTCTAGG -3'
(R):5'- AGTGGGAATTTAGTAAAGGCTCTTAC -3'
Posted On 2020-06-30