Incidental Mutation 'R9081:Poglut2'
ID 689989
Institutional Source Beutler Lab
Gene Symbol Poglut2
Ensembl Gene ENSMUSG00000026047
Gene Name protein O-glucosyltransferase 2
Synonyms 5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik
MMRRC Submission 068900-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R9081 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 44145706-44157968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44153966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 161 (Q161L)
Ref Sequence ENSEMBL: ENSMUSP00000064500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027213] [ENSMUST00000035991] [ENSMUST00000065767] [ENSMUST00000152643] [ENSMUST00000155917]
AlphaFold Q9JHP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000027213
AA Change: Q161L

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047
AA Change: Q161L

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
AA Change: Q161L

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: Q161L

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
Predicted Effect probably benign
Transcript: ENSMUST00000155917
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (71/71)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,502 (GRCm39) V271E probably damaging Het
Abca1 A G 4: 53,109,162 (GRCm39) probably null Het
Abcb11 C T 2: 69,122,388 (GRCm39) C365Y possibly damaging Het
Abcd2 A T 15: 91,075,772 (GRCm39) W14R probably damaging Het
Acmsd A G 1: 127,687,468 (GRCm39) D250G possibly damaging Het
Ahnak T A 19: 8,985,890 (GRCm39) D2391E possibly damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Cbr1 G T 16: 93,406,994 (GRCm39) G237* probably null Het
Cdr2l T A 11: 115,284,939 (GRCm39) V425E probably damaging Het
Chd9 A T 8: 91,704,144 (GRCm39) K693* probably null Het
Clgn T G 8: 84,153,169 (GRCm39) D590E probably damaging Het
Col14a1 T A 15: 55,291,387 (GRCm39) S952T unknown Het
Crip3 T C 17: 46,740,959 (GRCm39) L90P probably benign Het
Dchs1 A G 7: 105,403,636 (GRCm39) S2969P probably benign Het
Dnai2 T A 11: 114,629,493 (GRCm39) D173E probably damaging Het
Dnpep A T 1: 75,291,060 (GRCm39) F257Y probably damaging Het
Egln2 A G 7: 26,864,286 (GRCm39) V213A probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Eps8 A G 6: 137,504,415 (GRCm39) I106T probably benign Het
Evi5 A G 5: 107,963,571 (GRCm39) F379L probably benign Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fpgs A T 2: 32,577,500 (GRCm39) probably benign Het
Garnl3 T G 2: 32,896,920 (GRCm39) D573A possibly damaging Het
Gja8 A G 3: 96,826,676 (GRCm39) S329P probably damaging Het
Gzf1 T A 2: 148,525,317 (GRCm39) probably benign Het
Hgs T A 11: 120,366,076 (GRCm39) probably benign Het
Ifi203 A G 1: 173,757,048 (GRCm39) I245T unknown Het
Ighv1-74 C A 12: 115,766,454 (GRCm39) W55C probably damaging Het
Iqcb1 A G 16: 36,656,006 (GRCm39) K131R probably null Het
Kit A T 5: 75,801,218 (GRCm39) M539L probably benign Het
Klk1 A G 7: 43,874,952 (GRCm39) probably benign Het
Krt84 C T 15: 101,440,814 (GRCm39) G126D unknown Het
Lama5 A T 2: 179,833,930 (GRCm39) C1473* probably null Het
Loxl3 T C 6: 83,025,638 (GRCm39) V332A possibly damaging Het
Mcf2l T A 8: 13,068,697 (GRCm39) Y1120N probably damaging Het
Meioc G A 11: 102,565,001 (GRCm39) V150M probably benign Het
Mybpc1 T G 10: 88,389,168 (GRCm39) Y400S probably damaging Het
Ncmap T C 4: 135,104,292 (GRCm39) probably benign Het
Noc2l A G 4: 156,326,224 (GRCm39) Y437C probably damaging Het
Nol8 A T 13: 49,814,881 (GRCm39) M330L probably benign Het
Or10d4c A T 9: 39,558,196 (GRCm39) Y58F probably damaging Het
Or5b113 C T 19: 13,342,019 (GRCm39) T9I probably benign Het
P4ha1 T C 10: 59,184,185 (GRCm39) Y216H probably damaging Het
Pamr1 A T 2: 102,441,933 (GRCm39) D174V probably damaging Het
Pdcd1 C T 1: 93,968,880 (GRCm39) probably null Het
Plec A G 15: 76,059,908 (GRCm39) V3343A probably damaging Het
Pnliprp1 A T 19: 58,723,406 (GRCm39) I266F probably benign Het
Ppp1r12b C T 1: 134,705,085 (GRCm39) V868I probably benign Het
Ppp2r2b A T 18: 42,781,825 (GRCm39) H325Q probably benign Het
Rif1 C T 2: 52,000,989 (GRCm39) T1481I probably damaging Het
Rnf213 A T 11: 119,357,062 (GRCm39) D4204V Het
Rps6kl1 T C 12: 85,185,881 (GRCm39) N409S probably damaging Het
Rundc1 T G 11: 101,316,053 (GRCm39) W42G probably damaging Het
Sec1 C T 7: 45,333,987 (GRCm39) probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Shc2 T C 10: 79,462,762 (GRCm39) probably null Het
Slc19a1 T C 10: 76,877,750 (GRCm39) V95A possibly damaging Het
Slc22a5 A T 11: 53,762,447 (GRCm39) D333E probably damaging Het
Specc1 A C 11: 62,010,051 (GRCm39) R522S possibly damaging Het
Syne2 C T 12: 76,016,290 (GRCm39) Q3291* probably null Het
Taar7e G A 10: 23,913,893 (GRCm39) V128I probably benign Het
Tdrd3 A G 14: 87,743,717 (GRCm39) N555S probably benign Het
Themis C T 10: 28,544,582 (GRCm39) probably benign Het
Tjp1 A G 7: 64,964,010 (GRCm39) V945A possibly damaging Het
Tom1 G A 8: 75,778,151 (GRCm39) V78I probably damaging Het
Usp13 A G 3: 32,935,542 (GRCm39) T323A probably benign Het
Usp49 T C 17: 47,984,236 (GRCm39) S414P possibly damaging Het
Vmn1r104 G A 7: 20,268,378 (GRCm39) S206N probably damaging Het
Vps45 A T 3: 95,940,125 (GRCm39) V446E probably benign Het
Wwc1 T C 11: 35,782,331 (GRCm39) K222R probably benign Het
Zc3h13 CAGAGACCGGGACAGAAGGAGAGAC CAGAGAC 14: 75,569,381 (GRCm39) 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
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
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'- CATGTGTGCAAAGGGACTGG -3'
(R):5'- GTGGCGACTTGACTAGCTAG -3'

Sequencing Primer
(F):5'- AAGGCTTGTCAAAATATGTACCTAG -3'
(R):5'- TGGCGACTTGACTAGCTAGAAAGTTG -3'
Posted On 2021-11-19