Incidental Mutation 'R7755:Poglut2'
ID 597477
Institutional Source Beutler Lab
Gene Symbol Poglut2
Ensembl Gene ENSMUSG00000026047
Gene Name protein O-glucosyltransferase 2
Synonyms 5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik
MMRRC Submission 045811-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R7755 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 44145706-44157968 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 44157733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027213] [ENSMUST00000035991] [ENSMUST00000065767] [ENSMUST00000114709] [ENSMUST00000129068] [ENSMUST00000152643] [ENSMUST00000155917]
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 benign
Transcript: ENSMUST00000035991
SMART Domains Protein: ENSMUSP00000041964
Gene: ENSMUSG00000041684

DomainStartEndE-ValueType
low complexity region 117 129 N/A INTRINSIC
low complexity region 162 174 N/A INTRINSIC
Blast:XPGN 456 501 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000065767
SMART Domains Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047

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: ENSMUST00000114709
SMART Domains Protein: ENSMUSP00000110357
Gene: ENSMUSG00000041684

DomainStartEndE-ValueType
low complexity region 117 129 N/A INTRINSIC
low complexity region 162 174 N/A INTRINSIC
Blast:XPGN 456 501 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000129068
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
Predicted Effect probably benign
Transcript: ENSMUST00000155917
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (52/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,236,187 (GRCm39) M1179I probably benign Het
4930402F06Rik T C 2: 35,266,349 (GRCm39) Y107C probably damaging Het
Aff4 T C 11: 53,289,206 (GRCm39) S452P probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Begain A G 12: 109,018,802 (GRCm39) L215P probably benign Het
Carf T A 1: 60,187,214 (GRCm39) S606T probably benign Het
Cngb3 A T 4: 19,461,684 (GRCm39) T522S probably benign Het
Ctsll3 A T 13: 60,948,219 (GRCm39) F153I probably damaging Het
Cubn G A 2: 13,284,889 (GRCm39) T3509I probably benign Het
Dmrta1 T C 4: 89,580,170 (GRCm39) S377P probably benign Het
Dnmbp G A 19: 43,838,525 (GRCm39) A659V probably benign Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 T C 9: 7,015,490 (GRCm39) D3598G probably benign Het
Elp1 T C 4: 56,774,552 (GRCm39) N779S possibly damaging Het
Flot2 T C 11: 77,940,339 (GRCm39) F29L probably benign Het
Hectd1 A T 12: 51,849,003 (GRCm39) I367K possibly damaging Het
Ivl T A 3: 92,479,317 (GRCm39) K249N probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Mbd4 T A 6: 115,821,546 (GRCm39) I490F probably damaging Het
Mlip T C 9: 77,136,838 (GRCm39) T690A probably benign Het
Mmp1a T A 9: 7,467,005 (GRCm39) D227E possibly damaging Het
Mrgprf T C 7: 144,862,380 (GRCm39) L314P probably damaging Het
Ndufb9 T G 15: 58,808,255 (GRCm39) Y80* probably null Het
Neto2 C T 8: 86,396,285 (GRCm39) R155H probably damaging Het
Npat T A 9: 53,470,470 (GRCm39) N365K possibly damaging Het
Nsl1 G A 1: 190,795,380 (GRCm39) V49M probably benign Het
Nudt21 T A 8: 94,749,493 (GRCm39) Y191F probably benign Het
Or2w25 A G 11: 59,504,467 (GRCm39) R226G probably damaging Het
Or8b54 T G 9: 38,687,073 (GRCm39) I174S possibly damaging Het
Pcdh18 T C 3: 49,709,278 (GRCm39) Y679C possibly damaging Het
Pkd1l3 A G 8: 110,356,798 (GRCm39) D741G possibly damaging Het
Pkhd1 T C 1: 20,617,717 (GRCm39) D956G probably damaging Het
Pparg C T 6: 115,440,067 (GRCm39) P214S probably damaging Het
Ppargc1a T A 5: 51,630,883 (GRCm39) Y582F unknown Het
Prdm9 C T 17: 15,765,226 (GRCm39) C518Y probably damaging Het
Rangrf T A 11: 68,864,540 (GRCm39) E2V probably damaging Het
Rpl19 T C 11: 97,919,193 (GRCm39) I45T probably benign Het
Rtn4rl2 T C 2: 84,702,807 (GRCm39) D255G possibly damaging Het
Shld2 T C 14: 33,970,847 (GRCm39) K627E probably damaging Het
Sirt3 T C 7: 140,457,963 (GRCm39) D62G Het
Slc22a30 T C 19: 8,314,133 (GRCm39) T518A probably damaging Het
Slc40a1 T C 1: 45,950,466 (GRCm39) T329A probably damaging Het
Slc6a17 C T 3: 107,381,671 (GRCm39) G470D probably damaging Het
Syne2 A T 12: 76,044,181 (GRCm39) I3923L probably benign Het
Tiam2 C T 17: 3,471,591 (GRCm39) S411L probably benign Het
Ticam1 A G 17: 56,577,182 (GRCm39) C638R unknown Het
Tnrc6c A G 11: 117,648,912 (GRCm39) T1528A probably benign Het
Ufl1 A G 4: 25,262,274 (GRCm39) I404T probably benign Het
Usp43 A T 11: 67,782,294 (GRCm39) S375T possibly damaging Het
Vmn2r88 C G 14: 51,650,503 (GRCm39) A72G probably benign Het
Vmn2r91 A T 17: 18,330,311 (GRCm39) I532F possibly damaging Het
Vmn2r95 T C 17: 18,644,367 (GRCm39) M1T probably null Het
Xirp2 T C 2: 67,345,526 (GRCm39) V2589A probably benign Het
Zfp128 C T 7: 12,624,240 (GRCm39) Q203* probably null 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
R8144:Poglut2 UTSW 1 44,149,966 (GRCm39) missense probably damaging 1.00
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'- AGGACCACGTGTGCTTTTAG -3'
(R):5'- GTCATTGTCCGGAGAAAGTGG -3'

Sequencing Primer
(F):5'- CACGTGTGCTTTTAGCCCGG -3'
(R):5'- AAAGTGGAGCCTGCGGTTC -3'
Posted On 2019-11-26