Incidental Mutation 'R6044:Poglut2'
ID 483688
Institutional Source Beutler Lab
Gene Symbol Poglut2
Ensembl Gene ENSMUSG00000026047
Gene Name protein O-glucosyltransferase 2
Synonyms 5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik
MMRRC Submission 044212-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R6044 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 44145706-44157968 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 44153611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 221 (L221*)
Ref Sequence ENSEMBL: ENSMUSP00000064500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027213] [ENSMUST00000035991] [ENSMUST00000065767] [ENSMUST00000152643] [ENSMUST00000155917]
AlphaFold Q9JHP7
Predicted Effect probably null
Transcript: ENSMUST00000027213
AA Change: L221*
SMART Domains Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047
AA Change: L221*

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 null
Transcript: ENSMUST00000065767
AA Change: L221*
SMART Domains Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: L221*

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 noncoding transcript
Transcript: ENSMUST00000134195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148542
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149665
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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.0%
Validation Efficiency
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
3425401B19Rik G A 14: 32,382,614 (GRCm39) S1117L possibly damaging Het
Adamts20 A T 15: 94,180,364 (GRCm39) Y1764N probably damaging Het
Adamtsl1 A T 4: 86,130,928 (GRCm39) D223V probably damaging Het
Agbl1 T C 7: 75,967,868 (GRCm39) V31A possibly damaging Het
Alk T C 17: 72,299,095 (GRCm39) H462R probably benign Het
Amt A T 9: 108,174,450 (GRCm39) T72S probably damaging Het
Atp12a T A 14: 56,613,612 (GRCm39) D461E probably damaging Het
Bcan C A 3: 87,902,950 (GRCm39) C276F probably damaging Het
Crispld2 T C 8: 120,737,410 (GRCm39) S54P possibly damaging Het
Cyp11a1 A T 9: 57,933,987 (GRCm39) N478I probably damaging Het
Des A T 1: 75,340,113 (GRCm39) probably null Het
Dnajc6 A T 4: 101,473,774 (GRCm39) I427F probably benign Het
Eml4 T G 17: 83,753,379 (GRCm39) L281R probably damaging Het
Fam186a T C 15: 99,839,878 (GRCm39) Y2122C probably damaging Het
Fndc11 T A 2: 180,863,459 (GRCm39) L88Q probably damaging Het
Foxo1 A G 3: 52,253,258 (GRCm39) M474V probably benign Het
Gap43 A T 16: 42,112,550 (GRCm39) D70E probably benign Het
Gemin4 T C 11: 76,103,760 (GRCm39) M334V probably benign Het
Gm973 T C 1: 59,667,393 (GRCm39) L718P probably benign Het
Gprin3 G T 6: 59,330,657 (GRCm39) T550N possibly damaging Het
Hddc3 T A 7: 79,993,332 (GRCm39) V53E probably benign Het
Itpr2 A T 6: 146,298,449 (GRCm39) D12E probably null Het
Klri2 T A 6: 129,717,247 (GRCm39) E45D probably damaging Het
Lct A G 1: 128,235,717 (GRCm39) V430A possibly damaging Het
Mcm8 T C 2: 132,673,600 (GRCm39) probably null Het
Mmp12 A G 9: 7,350,050 (GRCm39) T184A possibly damaging Het
Morc3 T C 16: 93,663,330 (GRCm39) V511A probably benign Het
Mta2 T C 19: 8,925,695 (GRCm39) Y397H probably damaging Het
Naa50 G A 16: 43,979,890 (GRCm39) E93K possibly damaging Het
Or14j2 G A 17: 37,885,426 (GRCm39) T296M probably damaging Het
Or2t26 T C 11: 49,039,522 (GRCm39) V146A probably benign Het
Or4a77 T A 2: 89,487,516 (GRCm39) I90F probably damaging Het
Or4c126 T C 2: 89,823,761 (GRCm39) I8T possibly damaging Het
Or4k40 T C 2: 111,250,423 (GRCm39) N291S probably damaging Het
Padi4 A G 4: 140,475,438 (GRCm39) S576P possibly damaging Het
Prss47 A T 13: 65,197,120 (GRCm39) Y111* probably null Het
Ptprm A G 17: 67,000,857 (GRCm39) V1100A probably damaging Het
Rab11fip3 G A 17: 26,286,843 (GRCm39) P437S possibly damaging Het
Rsph14 C T 10: 74,867,102 (GRCm39) D15N probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slco1a1 A G 6: 141,885,743 (GRCm39) V94A probably benign Het
Smpdl3a A G 10: 57,687,358 (GRCm39) E362G possibly damaging Het
Sva A T 6: 42,017,034 (GRCm39) Y47F probably benign Het
Tatdn3 A G 1: 190,788,558 (GRCm39) probably null Het
Tlcd4 A T 3: 121,001,018 (GRCm39) I205K probably damaging Het
Tlcd5 A G 9: 43,024,903 (GRCm39) S18P probably benign Het
Tmem131 G A 1: 36,920,422 (GRCm39) Q93* probably null Het
Trpm7 T C 2: 126,656,665 (GRCm39) E1184G probably damaging Het
Ubr1 T C 2: 120,693,202 (GRCm39) I1735V probably benign Het
Usp40 A T 1: 87,917,872 (GRCm39) I325K probably benign Het
Vmn2r27 T G 6: 124,208,731 (GRCm39) I5L probably benign Het
Wee1 C T 7: 109,738,513 (GRCm39) T542I probably benign Het
Wrn G A 8: 33,726,457 (GRCm39) P1129S probably damaging Het
Zfyve16 G A 13: 92,659,174 (GRCm39) Q246* 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
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
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'- TGAGGCAGAGGCATTTTCTTTC -3'
(R):5'- TGACCTTTTGATTATATCTGGCTACT -3'

Sequencing Primer
(F):5'- GACCCAGTGACTCAGATTCTTGAG -3'
(R):5'- GTCCCTTTGCACACATGTA -3'
Posted On 2017-07-14