Incidental Mutation 'R9300:Poglut2'
ID 704823
Institutional Source Beutler Lab
Gene Symbol Poglut2
Ensembl Gene ENSMUSG00000026047
Gene Name protein O-glucosyltransferase 2
Synonyms 5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R9300 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 44145706-44157968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44156362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 75 (I75T)
Ref Sequence ENSEMBL: ENSMUSP00000064500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027213] [ENSMUST00000035991] [ENSMUST00000065767] [ENSMUST00000114709] [ENSMUST00000129068] [ENSMUST00000152643] [ENSMUST00000155917]
AlphaFold Q9JHP7
Predicted Effect probably damaging
Transcript: ENSMUST00000027213
AA Change: I75T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047
AA Change: I75T

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 possibly damaging
Transcript: ENSMUST00000065767
AA Change: I75T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: I75T

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 damaging
Transcript: ENSMUST00000152643
AA Change: I75T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047
AA Change: I75T

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
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,875,614 (GRCm39) V596I probably benign Het
Acad8 A T 9: 26,888,928 (GRCm39) H371Q probably damaging Het
Actn3 G T 19: 4,921,656 (GRCm39) R175S probably benign Het
Adamts9 G T 6: 92,864,371 (GRCm39) D780E probably benign Het
AK157302 C A 13: 21,679,537 (GRCm39) T21K probably benign Het
Ank3 A T 10: 69,706,872 (GRCm39) H329L unknown Het
Ankrd36 A G 11: 5,519,979 (GRCm39) H18R possibly damaging Het
Anks1b T A 10: 90,412,966 (GRCm39) V38D possibly damaging Het
Apbb2 A T 5: 66,470,677 (GRCm39) L520H probably damaging Het
Arid1b C A 17: 5,293,274 (GRCm39) P731T probably damaging Het
Atp1a4 A G 1: 172,067,398 (GRCm39) F578S probably damaging Het
Atp6v0a2 A T 5: 124,789,312 (GRCm39) I360F probably damaging Het
Bcas3 A T 11: 85,448,184 (GRCm39) I600F probably damaging Het
C1qtnf7 T G 5: 43,766,441 (GRCm39) C20W possibly damaging Het
Cadm1 A T 9: 47,708,821 (GRCm39) K184* probably null Het
Ccdc138 A T 10: 58,343,448 (GRCm39) H101L probably benign Het
Cep120 T A 18: 53,852,369 (GRCm39) N503I probably damaging Het
Chil4 T C 3: 106,109,874 (GRCm39) T380A probably benign Het
Clip2 A G 5: 134,526,942 (GRCm39) probably null Het
Cyp3a11 G A 5: 145,799,164 (GRCm39) P341L possibly damaging Het
Cyp3a41a G C 5: 145,656,906 (GRCm39) probably benign Het
Dcaf1 A G 9: 106,725,042 (GRCm39) I509M possibly damaging Het
Dcaf13 T C 15: 39,010,102 (GRCm39) S429P probably damaging Het
Eln A G 5: 134,758,220 (GRCm39) V151A unknown Het
Endou T G 15: 97,610,954 (GRCm39) M377L probably benign Het
Etfa A G 9: 55,396,152 (GRCm39) I138T probably damaging Het
Fbxw10 T A 11: 62,768,109 (GRCm39) S982T probably benign Het
Gm9602 A T 14: 15,933,435 (GRCm39) R47* probably null Het
Hectd4 G A 5: 121,486,952 (GRCm39) V3316I probably benign Het
Hif1a T C 12: 73,987,302 (GRCm39) L477S probably benign Het
Icam5 G C 9: 20,946,846 (GRCm39) G458A probably benign Het
Itm2b A T 14: 73,603,896 (GRCm39) D106E probably benign Het
Kdm4d G A 9: 14,375,336 (GRCm39) T174M probably damaging Het
Kif16b G T 2: 142,541,207 (GRCm39) D1364E probably benign Het
Lbhd1 G A 19: 8,861,550 (GRCm39) V61M probably damaging Het
Lclat1 T A 17: 73,546,919 (GRCm39) S279T probably benign Het
Lhx4 G A 1: 155,580,956 (GRCm39) L190F probably damaging Het
Lima1 C T 15: 99,704,320 (GRCm39) S283N probably benign Het
Magi1 C A 6: 93,724,209 (GRCm39) D496Y probably damaging Het
Map1a T C 2: 121,133,446 (GRCm39) S1421P probably damaging Het
Map3k20 C T 2: 72,202,257 (GRCm39) H163Y probably damaging Het
Mier3 T G 13: 111,822,890 (GRCm39) probably null Het
Mllt3 G A 4: 87,692,284 (GRCm39) Q560* probably null Het
Mmp25 T A 17: 23,851,728 (GRCm39) D327V probably benign Het
Nckap5 G A 1: 125,909,423 (GRCm39) Q1603* probably null Het
Nell1 G A 7: 49,712,368 (GRCm39) V63I probably benign Het
Or10al3 C T 17: 38,011,815 (GRCm39) P85S probably damaging Het
Or2ag2b A T 7: 106,418,111 (GRCm39) I274F probably benign Het
Or8a1 A C 9: 37,641,578 (GRCm39) S234A probably benign Het
Pde12 C T 14: 26,386,931 (GRCm39) E526K probably damaging Het
Pfn4 T C 12: 4,825,442 (GRCm39) V93A possibly damaging Het
Ppp2r3d A G 9: 124,423,977 (GRCm38) S60P unknown Het
Prelp T C 1: 133,842,257 (GRCm39) H296R probably damaging Het
Prickle1 T C 15: 93,398,749 (GRCm39) E693G possibly damaging Het
Rars1 A G 11: 35,706,488 (GRCm39) L477P probably damaging Het
Rasal1 G A 5: 120,802,172 (GRCm39) R328H probably damaging Het
Rasef A G 4: 73,659,393 (GRCm39) F220S probably benign Het
Rif1 C T 2: 52,001,151 (GRCm39) S1535L probably damaging Het
Rnf17 T C 14: 56,697,495 (GRCm39) I463T possibly damaging Het
Ryr3 A T 2: 112,690,695 (GRCm39) D1138E probably benign Het
Scn9a T A 2: 66,335,236 (GRCm39) Y1251F probably benign Het
Sdk2 A G 11: 113,715,856 (GRCm39) W1568R possibly damaging Het
Senp6 A G 9: 80,049,433 (GRCm39) E1019G probably damaging Het
Shh A G 5: 28,663,461 (GRCm39) Y236H probably damaging Het
Sin3a A G 9: 57,014,744 (GRCm39) D655G probably damaging Het
Slc35a4 C T 18: 36,815,274 (GRCm39) P35S probably damaging Het
Slc35g1 T C 19: 38,384,633 (GRCm39) L24P probably benign Het
Slc39a4 G T 15: 76,498,759 (GRCm39) Q312K probably damaging Het
Slc6a5 A T 7: 49,601,175 (GRCm39) I659F probably damaging Het
Slc7a4 T C 16: 17,392,399 (GRCm39) Y345C probably benign Het
Slco6c1 G T 1: 96,993,809 (GRCm39) R645S probably benign Het
Soat1 T C 1: 156,268,923 (GRCm39) Y209C probably benign Het
Tbc1d9b T C 11: 50,054,714 (GRCm39) S953P probably benign Het
Tgm1 G A 14: 55,942,303 (GRCm39) H683Y probably benign Het
Tmem98 G A 11: 80,708,432 (GRCm39) R134Q probably damaging Het
Trpm3 A C 19: 22,955,745 (GRCm39) M1107L possibly damaging Het
Vmn1r11 G A 6: 57,114,872 (GRCm39) V179I probably benign Het
Vmn1r119 G T 7: 20,745,638 (GRCm39) T248K probably damaging Het
Vmn1r236 T A 17: 21,506,945 (GRCm39) I21N possibly damaging Het
Vmn2r24 A G 6: 123,793,030 (GRCm39) T786A possibly damaging Het
Vstm5 A T 9: 15,168,585 (GRCm39) I50F probably damaging Het
Wdr1 T C 5: 38,685,255 (GRCm39) D572G probably damaging Het
Xaf1 T C 11: 72,192,517 (GRCm39) F5S probably benign Het
Zan A T 5: 137,468,519 (GRCm39) probably null Het
Zfp697 T C 3: 98,334,979 (GRCm39) V248A possibly damaging Het
Zftraf1 C A 15: 76,530,541 (GRCm39) V260L probably benign Het
Zkscan3 T A 13: 21,577,667 (GRCm39) T249S unknown Het
Znfx1 A G 2: 166,897,860 (GRCm39) Y355H probably damaging 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
R9081:Poglut2 UTSW 1 44,153,966 (GRCm39) missense probably benign 0.19
R9634:Poglut2 UTSW 1 44,152,196 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGTCCTCAAGGAGCAACTTTTC -3'
(R):5'- TCTGGTCCTAAAAGCCTAAGAGAG -3'

Sequencing Primer
(F):5'- CTCAAGGAGCAACTTTTCTAGTAATG -3'
(R):5'- TCCTAAAAGCCTAAGAGAGTAATCG -3'
Posted On 2022-03-25