Incidental Mutation 'R5884:Poglut2'
ID 454545
Institutional Source Beutler Lab
Gene Symbol Poglut2
Ensembl Gene ENSMUSG00000026047
Gene Name protein O-glucosyltransferase 2
Synonyms 5730416C13Rik, Kdel1, EP58, Kdelc1, 1810049A15Rik
MMRRC Submission 044087-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.453) question?
Stock # R5884 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 44145706-44157968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44156260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 109 (N109S)
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 benign
Transcript: ENSMUST00000027213
AA Change: N109S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027213
Gene: ENSMUSG00000026047
AA Change: N109S

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: N109S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064500
Gene: ENSMUSG00000026047
AA Change: N109S

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 noncoding transcript
Transcript: ENSMUST00000138521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141125
Predicted Effect probably benign
Transcript: ENSMUST00000152643
AA Change: N109S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114287
Gene: ENSMUSG00000026047
AA Change: N109S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG_FLMN 28 133 9.21e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186280
Predicted Effect probably benign
Transcript: ENSMUST00000155917
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 95.6%
  • 20x: 82.8%
Validation Efficiency 96% (66/69)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmp5 T C 9: 75,805,836 (GRCm39) M446T probably damaging Het
Cacna1g C T 11: 94,328,693 (GRCm39) A1052T probably damaging Het
Cand1 C T 10: 119,049,670 (GRCm39) A359T possibly damaging Het
Ccne2 A T 4: 11,199,411 (GRCm39) T271S probably benign Het
Cep112 A G 11: 108,461,142 (GRCm39) T546A probably damaging Het
Ces1g A G 8: 94,033,558 (GRCm39) S455P probably benign Het
Dnah11 A T 12: 118,141,269 (GRCm39) C496S probably benign Het
Dtx3l C G 16: 35,752,603 (GRCm39) E668Q probably benign Het
Dysf T A 6: 84,163,063 (GRCm39) F1579I probably damaging Het
Emx2 T G 19: 59,452,461 (GRCm39) D248E probably damaging Het
Eri2 A C 7: 119,371,552 (GRCm39) *275E probably null Het
F5 G A 1: 164,023,215 (GRCm39) R1591H probably benign Het
Fabp3 A G 4: 130,206,131 (GRCm39) T41A probably benign Het
Fam89a C T 8: 125,478,508 (GRCm39) R14H probably damaging Het
Gbe1 T A 16: 70,325,763 (GRCm39) probably null Het
Golga3 A G 5: 110,364,761 (GRCm39) E1211G probably damaging Het
Gpa33 T C 1: 165,980,329 (GRCm39) S131P probably damaging Het
Hyal6 T C 6: 24,743,368 (GRCm39) Y355H probably damaging Het
Ide A T 19: 37,249,552 (GRCm39) probably null Het
Ighv5-21 A T 12: 114,283,806 (GRCm39) probably benign Het
Iglc1 A T 16: 18,880,741 (GRCm39) probably benign Het
Impa1 A T 3: 10,381,284 (GRCm39) N199K probably damaging Het
Irx5 A C 8: 93,087,258 (GRCm39) T397P possibly damaging Het
Lonp2 A G 8: 87,368,254 (GRCm39) Y356C probably damaging Het
Matn4 A T 2: 164,246,528 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Nav2 T A 7: 49,246,917 (GRCm39) Y2147* probably null Het
Nek5 C T 8: 22,578,817 (GRCm39) probably null Het
Omt2b A G 9: 78,235,839 (GRCm39) M55V probably benign Het
Or5d37 A G 2: 87,924,140 (GRCm39) Y47H probably damaging Het
Or6z1 C A 7: 6,504,842 (GRCm39) V128L probably benign Het
Or9g8 T A 2: 85,607,399 (GRCm39) I157K probably damaging Het
Parp4 T A 14: 56,852,207 (GRCm39) H796Q probably damaging Het
Pex2 T C 3: 5,626,359 (GRCm39) E150G probably benign Het
Psmb2 T A 4: 126,578,014 (GRCm39) V64E possibly damaging Het
Psmd6 C T 14: 14,116,526 (GRCm38) R63H probably damaging Het
Ptprd A G 4: 75,900,927 (GRCm39) Y1061H probably damaging Het
Rab23 A G 1: 33,763,967 (GRCm39) probably benign Het
Rad51ap2 GAAAAGGAAACTATTTAAAA GAAAA 12: 11,507,534 (GRCm39) probably benign Het
Reg1 C T 6: 78,405,200 (GRCm39) S141L possibly damaging Het
Rock1 A T 18: 10,099,361 (GRCm39) I680K probably benign Het
Sez6l2 A G 7: 126,569,328 (GRCm39) probably benign Het
Slc34a2 A T 5: 53,226,722 (GRCm39) Q615L possibly damaging Het
Slu7 A G 11: 43,334,245 (GRCm39) K424E probably benign Het
Tctn2 A T 5: 124,741,895 (GRCm39) noncoding transcript Het
Tmem87a T A 2: 120,234,605 (GRCm39) probably benign Het
Trappc4 A G 9: 44,315,385 (GRCm39) F198L probably damaging Het
Usp33 C T 3: 152,073,967 (GRCm39) T271I probably benign Het
Vmn1r15 T A 6: 57,235,993 (GRCm39) I287K probably damaging Het
Vmn2r75 A C 7: 85,814,578 (GRCm39) I305R probably benign Het
Wdr26 T C 1: 181,015,106 (GRCm39) probably benign Het
Zzz3 T C 3: 152,156,295 (GRCm39) S684P 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
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
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'- GTGTGTCCTCAAGGAGCAAC -3'
(R):5'- GAGAATAAGTAGCGTGCATTTGATC -3'

Sequencing Primer
(F):5'- GTGTCCTCAAGGAGCAACTTTTCTAG -3'
(R):5'- GCGTGCATTTGATCTTAAAAATAACC -3'
Posted On 2017-02-10