Incidental Mutation 'R4770:Uggt2'
ID 367443
Institutional Source Beutler Lab
Gene Symbol Uggt2
Ensembl Gene ENSMUSG00000042104
Gene Name UDP-glucose glycoprotein glucosyltransferase 2
Synonyms 3110001A05Rik, A230065J02Rik, 3110027P15Rik, 1810064L21Rik, Ugcgl2
MMRRC Submission 042410-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4770 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 119222451-119336842 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 119266466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127153] [ENSMUST00000156203] [ENSMUST00000156203]
AlphaFold E9Q4X2
Predicted Effect probably benign
Transcript: ENSMUST00000127153
SMART Domains Protein: ENSMUSP00000117738
Gene: ENSMUSG00000042104

DomainStartEndE-ValueType
low complexity region 327 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153693
SMART Domains Protein: ENSMUSP00000123327
Gene: ENSMUSG00000042104

DomainStartEndE-ValueType
Pfam:UDP-g_GGTase 1 106 3.3e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000156203
SMART Domains Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UDP-g_GGTase 23 1189 N/A PFAM
SCOP:d1ga8a_ 1219 1485 9e-44 SMART
Blast:BROMO 1377 1427 4e-16 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000156203
SMART Domains Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:UDP-g_GGTase 23 1189 N/A PFAM
SCOP:d1ga8a_ 1219 1485 9e-44 SMART
Blast:BROMO 1377 1427 4e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173470
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 93% (89/96)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]
Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,962,341 (GRCm39) V503A possibly damaging Het
Agps T A 2: 75,722,199 (GRCm39) F463Y possibly damaging Het
Ajm1 G A 2: 25,469,759 (GRCm39) R51C possibly damaging Het
Amigo3 A T 9: 107,930,734 (GRCm39) L52F probably damaging Het
Anapc1 T C 2: 128,527,980 (GRCm39) probably benign Het
Ankrd36 G T 11: 5,540,870 (GRCm39) C312F possibly damaging Het
Asic2 A C 11: 80,862,318 (GRCm39) D226E probably benign Het
Atp8b2 T A 3: 89,864,374 (GRCm39) Q197L probably damaging Het
C2cd3 A G 7: 100,092,642 (GRCm39) Y495C probably damaging Het
Ccdc51 A G 9: 108,919,978 (GRCm39) T125A probably benign Het
Ccser1 A G 6: 61,288,485 (GRCm39) Y216C possibly damaging Het
Cimap1b A G 15: 89,263,326 (GRCm39) I19T probably damaging Het
Cntfr A T 4: 41,663,282 (GRCm39) I175N possibly damaging Het
Cox10 G A 11: 63,854,989 (GRCm39) R431W probably benign Het
Cubn T C 2: 13,319,578 (GRCm39) T2881A possibly damaging Het
Cyp2d9 T A 15: 82,336,774 (GRCm39) V41E probably damaging Het
Dmrtb1 C T 4: 107,540,986 (GRCm39) G125D probably benign Het
Dscaml1 C T 9: 45,581,404 (GRCm39) R408C probably damaging Het
Duox2 A T 2: 122,115,397 (GRCm39) S1052T probably benign Het
Ecm1 A G 3: 95,645,273 (GRCm39) probably benign Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Epb41l1 T A 2: 156,371,344 (GRCm39) M727K probably benign Het
Exosc9 T C 3: 36,607,984 (GRCm39) V64A probably damaging Het
Ezh2 A T 6: 47,517,630 (GRCm39) I564N probably damaging Het
Fam89b C A 19: 5,779,482 (GRCm39) R25L probably damaging Het
Fgr C T 4: 132,714,602 (GRCm39) T98M probably damaging Het
Fhip2b T A 14: 70,825,727 (GRCm39) D351V probably damaging Het
Gapvd1 A G 2: 34,581,193 (GRCm39) S1089P probably damaging Het
Gbp5 A T 3: 142,213,837 (GRCm39) I544F possibly damaging Het
Gli2 C A 1: 118,910,318 (GRCm39) probably benign Het
Gm9934 A G 7: 92,702,192 (GRCm39) noncoding transcript Het
Greb1 A T 12: 16,731,357 (GRCm39) D1660E probably benign Het
Gtf2i T A 5: 134,272,414 (GRCm39) N750I possibly damaging Het
H2-DMb2 G C 17: 34,367,698 (GRCm39) D171H probably damaging Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Itga2b A G 11: 102,351,582 (GRCm39) F581S probably damaging Het
Itsn2 T A 12: 4,677,892 (GRCm39) M83K probably damaging Het
Kif27 G A 13: 58,492,191 (GRCm39) T316M probably damaging Het
Lad1 A T 1: 135,753,531 (GRCm39) Q26L probably damaging Het
Lrrn3 T A 12: 41,502,442 (GRCm39) H625L probably benign Het
Mast1 A G 8: 85,655,875 (GRCm39) V155A probably benign Het
Mast3 G A 8: 71,238,864 (GRCm39) T480M probably damaging Het
Mpc1 C T 17: 8,512,377 (GRCm39) probably benign Het
Mycbp2 T A 14: 103,457,380 (GRCm39) M1606L probably benign Het
Myo1c T A 11: 75,551,139 (GRCm39) L238* probably null Het
Nanog T G 6: 122,688,550 (GRCm39) S44A possibly damaging Het
Neb T C 2: 52,039,165 (GRCm39) Q6958R probably benign Het
Ngef C T 1: 87,405,283 (GRCm39) R709H probably damaging Het
Nr1d1 A G 11: 98,661,471 (GRCm39) V265A probably benign Het
Nr3c2 A G 8: 77,634,872 (GRCm39) probably null Het
Olfm5 A G 7: 103,809,685 (GRCm39) S164P probably benign Het
Parvb T C 15: 84,188,106 (GRCm39) probably null Het
Pde4dip G T 3: 97,674,400 (GRCm39) A172D probably damaging Het
Phf2 A G 13: 48,957,079 (GRCm39) L1096P probably damaging Het
Pik3r6 T A 11: 68,420,720 (GRCm39) V155E probably damaging Het
Pinx1 T G 14: 64,109,820 (GRCm39) V124G probably damaging Het
Poglut1 A G 16: 38,355,119 (GRCm39) Y236H probably damaging Het
Pou4f2 T A 8: 79,163,030 (GRCm39) M2L unknown Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Pramel26 C T 4: 143,538,519 (GRCm39) E151K probably damaging Het
Prkaca A G 8: 84,717,499 (GRCm39) N209S probably benign Het
Ring1 G A 17: 34,242,361 (GRCm39) P49S probably damaging Het
Rnf20 T A 4: 49,633,412 (GRCm39) probably null Het
Rnf25 G A 1: 74,633,099 (GRCm39) R418C probably damaging Het
Ryr1 G T 7: 28,808,707 (GRCm39) P462Q probably damaging Het
Serpinb3d A G 1: 107,006,008 (GRCm39) F360S probably damaging Het
Setd7 T C 3: 51,428,843 (GRCm39) E329G probably damaging Het
Slco2b1 C T 7: 99,320,156 (GRCm39) probably null Het
Snap91 G A 9: 86,655,654 (GRCm39) T844I possibly damaging Het
Snhg5 C T 9: 88,404,424 (GRCm39) noncoding transcript Het
Son T A 16: 91,455,756 (GRCm39) V1501E probably damaging Het
Syncrip T A 9: 88,361,905 (GRCm39) E70V probably damaging Het
Tas2r125 A G 6: 132,886,750 (GRCm39) D46G probably damaging Het
Tmem115 G A 9: 107,412,156 (GRCm39) R160Q probably benign Het
Trerf1 G A 17: 47,630,581 (GRCm39) noncoding transcript Het
Tut7 A G 13: 59,920,698 (GRCm39) probably benign Het
Ush2a G T 1: 188,282,076 (GRCm39) V1864F probably benign Het
Xkr4 A T 1: 3,286,714 (GRCm39) V492D probably damaging Het
Zfp646 T A 7: 127,482,649 (GRCm39) S1609T possibly damaging Het
Zfp65 A T 13: 67,856,477 (GRCm39) H277Q probably damaging Het
Zfp69 A G 4: 120,791,614 (GRCm39) S176P probably damaging Het
Zfp747 C T 7: 126,974,971 (GRCm39) A10T probably damaging Het
Zfp850 T C 7: 27,684,411 (GRCm39) probably null Het
Other mutations in Uggt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Uggt2 APN 14 119,286,688 (GRCm39) missense possibly damaging 0.94
IGL00430:Uggt2 APN 14 119,263,841 (GRCm39) nonsense probably null
IGL00433:Uggt2 APN 14 119,250,899 (GRCm39) missense probably benign
IGL00572:Uggt2 APN 14 119,280,203 (GRCm39) missense probably benign 0.02
IGL00577:Uggt2 APN 14 119,272,312 (GRCm39) missense possibly damaging 0.89
IGL00671:Uggt2 APN 14 119,280,211 (GRCm39) missense possibly damaging 0.73
IGL01482:Uggt2 APN 14 119,295,057 (GRCm39) missense probably damaging 1.00
IGL01630:Uggt2 APN 14 119,280,184 (GRCm39) missense probably benign 0.00
IGL01787:Uggt2 APN 14 119,319,146 (GRCm39) missense probably damaging 0.99
IGL02063:Uggt2 APN 14 119,326,605 (GRCm39) missense possibly damaging 0.79
IGL02809:Uggt2 APN 14 119,328,150 (GRCm39) missense probably benign 0.17
IGL02894:Uggt2 APN 14 119,319,211 (GRCm39) missense probably damaging 0.96
IGL03062:Uggt2 APN 14 119,312,758 (GRCm39) missense probably damaging 1.00
IGL03139:Uggt2 APN 14 119,332,722 (GRCm39) missense probably benign 0.25
IGL03142:Uggt2 APN 14 119,235,603 (GRCm39) missense probably damaging 1.00
IGL03168:Uggt2 APN 14 119,315,080 (GRCm39) missense probably damaging 0.98
IGL03348:Uggt2 APN 14 119,308,300 (GRCm39) missense probably benign 0.38
P0014:Uggt2 UTSW 14 119,281,950 (GRCm39) missense probably damaging 1.00
R0006:Uggt2 UTSW 14 119,287,075 (GRCm39) missense probably benign 0.07
R0063:Uggt2 UTSW 14 119,244,542 (GRCm39) splice site probably benign
R0063:Uggt2 UTSW 14 119,244,542 (GRCm39) splice site probably benign
R0383:Uggt2 UTSW 14 119,286,863 (GRCm39) missense probably damaging 1.00
R0433:Uggt2 UTSW 14 119,312,741 (GRCm39) critical splice donor site probably null
R0472:Uggt2 UTSW 14 119,332,748 (GRCm39) missense probably damaging 1.00
R0609:Uggt2 UTSW 14 119,332,748 (GRCm39) missense probably damaging 1.00
R0645:Uggt2 UTSW 14 119,295,010 (GRCm39) missense probably benign 0.27
R0788:Uggt2 UTSW 14 119,332,812 (GRCm39) splice site probably benign
R0940:Uggt2 UTSW 14 119,328,604 (GRCm39) critical splice donor site probably null
R1567:Uggt2 UTSW 14 119,246,505 (GRCm39) missense possibly damaging 0.58
R1627:Uggt2 UTSW 14 119,295,075 (GRCm39) missense possibly damaging 0.95
R1682:Uggt2 UTSW 14 119,292,055 (GRCm39) missense probably benign 0.19
R1746:Uggt2 UTSW 14 119,250,915 (GRCm39) missense probably benign 0.00
R1785:Uggt2 UTSW 14 119,298,788 (GRCm39) missense probably damaging 1.00
R1786:Uggt2 UTSW 14 119,298,788 (GRCm39) missense probably damaging 1.00
R1799:Uggt2 UTSW 14 119,269,688 (GRCm39) missense probably benign 0.00
R1894:Uggt2 UTSW 14 119,287,130 (GRCm39) missense probably damaging 0.99
R1918:Uggt2 UTSW 14 119,245,467 (GRCm39) splice site probably benign
R2149:Uggt2 UTSW 14 119,312,757 (GRCm39) missense probably benign 0.02
R2168:Uggt2 UTSW 14 119,256,917 (GRCm39) missense probably damaging 1.00
R2219:Uggt2 UTSW 14 119,312,749 (GRCm39) missense probably damaging 1.00
R2220:Uggt2 UTSW 14 119,312,749 (GRCm39) missense probably damaging 1.00
R2240:Uggt2 UTSW 14 119,232,461 (GRCm39) missense probably damaging 1.00
R2331:Uggt2 UTSW 14 119,264,011 (GRCm39) missense possibly damaging 0.87
R2904:Uggt2 UTSW 14 119,296,521 (GRCm39) missense possibly damaging 0.74
R2906:Uggt2 UTSW 14 119,256,919 (GRCm39) missense probably benign 0.00
R2907:Uggt2 UTSW 14 119,256,919 (GRCm39) missense probably benign 0.00
R2908:Uggt2 UTSW 14 119,256,919 (GRCm39) missense probably benign 0.00
R2998:Uggt2 UTSW 14 119,286,797 (GRCm39) missense probably damaging 1.00
R3407:Uggt2 UTSW 14 119,328,682 (GRCm39) missense probably benign 0.39
R3722:Uggt2 UTSW 14 119,278,930 (GRCm39) missense probably damaging 1.00
R3749:Uggt2 UTSW 14 119,295,084 (GRCm39) missense probably benign 0.13
R4015:Uggt2 UTSW 14 119,263,845 (GRCm39) missense possibly damaging 0.47
R4016:Uggt2 UTSW 14 119,263,845 (GRCm39) missense possibly damaging 0.47
R4017:Uggt2 UTSW 14 119,263,845 (GRCm39) missense possibly damaging 0.47
R4206:Uggt2 UTSW 14 119,286,674 (GRCm39) missense probably damaging 1.00
R4536:Uggt2 UTSW 14 119,256,970 (GRCm39) missense probably benign
R4642:Uggt2 UTSW 14 119,272,347 (GRCm39) missense probably benign 0.00
R4654:Uggt2 UTSW 14 119,269,670 (GRCm39) missense possibly damaging 0.46
R4810:Uggt2 UTSW 14 119,250,933 (GRCm39) missense probably damaging 1.00
R4832:Uggt2 UTSW 14 119,239,259 (GRCm39) missense probably damaging 0.99
R4856:Uggt2 UTSW 14 119,273,376 (GRCm39) splice site probably null
R4886:Uggt2 UTSW 14 119,273,376 (GRCm39) splice site probably null
R4888:Uggt2 UTSW 14 119,315,062 (GRCm39) critical splice donor site probably null
R4888:Uggt2 UTSW 14 119,286,665 (GRCm39) missense probably damaging 1.00
R4895:Uggt2 UTSW 14 119,256,298 (GRCm39) missense probably damaging 1.00
R5353:Uggt2 UTSW 14 119,319,182 (GRCm39) missense probably benign 0.00
R5423:Uggt2 UTSW 14 119,256,898 (GRCm39) missense probably damaging 1.00
R5476:Uggt2 UTSW 14 119,328,121 (GRCm39) missense probably benign 0.01
R5561:Uggt2 UTSW 14 119,278,939 (GRCm39) missense probably benign 0.02
R5607:Uggt2 UTSW 14 119,326,611 (GRCm39) missense possibly damaging 0.81
R5608:Uggt2 UTSW 14 119,326,611 (GRCm39) missense possibly damaging 0.81
R5625:Uggt2 UTSW 14 119,315,136 (GRCm39) missense probably damaging 1.00
R5698:Uggt2 UTSW 14 119,280,138 (GRCm39) missense probably damaging 1.00
R5986:Uggt2 UTSW 14 119,286,838 (GRCm39) missense probably damaging 1.00
R6031:Uggt2 UTSW 14 119,308,238 (GRCm39) missense probably benign 0.06
R6031:Uggt2 UTSW 14 119,308,238 (GRCm39) missense probably benign 0.06
R6056:Uggt2 UTSW 14 119,273,381 (GRCm39) critical splice donor site probably null
R6289:Uggt2 UTSW 14 119,279,014 (GRCm39) missense probably damaging 0.99
R6480:Uggt2 UTSW 14 119,294,976 (GRCm39) missense probably benign 0.01
R6515:Uggt2 UTSW 14 119,315,131 (GRCm39) missense possibly damaging 0.89
R6706:Uggt2 UTSW 14 119,308,293 (GRCm39) missense probably damaging 1.00
R6745:Uggt2 UTSW 14 119,280,022 (GRCm39) missense possibly damaging 0.58
R6819:Uggt2 UTSW 14 119,263,847 (GRCm39) missense probably damaging 1.00
R6879:Uggt2 UTSW 14 119,239,271 (GRCm39) missense probably benign 0.10
R7117:Uggt2 UTSW 14 119,251,938 (GRCm39) missense probably benign 0.25
R7183:Uggt2 UTSW 14 119,257,049 (GRCm39) splice site probably null
R7337:Uggt2 UTSW 14 119,323,587 (GRCm39) missense probably benign 0.28
R7342:Uggt2 UTSW 14 119,232,384 (GRCm39) missense possibly damaging 0.56
R7615:Uggt2 UTSW 14 119,326,681 (GRCm39) missense probably benign 0.12
R7625:Uggt2 UTSW 14 119,263,905 (GRCm39) missense probably damaging 1.00
R7685:Uggt2 UTSW 14 119,312,759 (GRCm39) missense probably damaging 1.00
R7842:Uggt2 UTSW 14 119,235,516 (GRCm39) missense probably damaging 1.00
R7891:Uggt2 UTSW 14 119,280,059 (GRCm39) missense probably benign 0.09
R7938:Uggt2 UTSW 14 119,296,519 (GRCm39) missense possibly damaging 0.68
R8050:Uggt2 UTSW 14 119,263,834 (GRCm39) missense probably damaging 0.98
R9007:Uggt2 UTSW 14 119,326,724 (GRCm39) missense probably damaging 1.00
R9080:Uggt2 UTSW 14 119,295,017 (GRCm39) missense probably benign 0.42
R9203:Uggt2 UTSW 14 119,294,975 (GRCm39) missense probably benign 0.08
R9215:Uggt2 UTSW 14 119,279,006 (GRCm39) missense probably damaging 1.00
R9324:Uggt2 UTSW 14 119,312,741 (GRCm39) critical splice donor site probably null
R9459:Uggt2 UTSW 14 119,286,595 (GRCm39) missense probably benign 0.02
R9647:Uggt2 UTSW 14 119,256,312 (GRCm39) missense probably damaging 1.00
R9781:Uggt2 UTSW 14 119,232,384 (GRCm39) missense possibly damaging 0.56
Z1177:Uggt2 UTSW 14 119,244,708 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGCAATTAAGTGAAGTGAC -3'
(R):5'- GATCAGAGTGTGCTAGGCAGTG -3'

Sequencing Primer
(F):5'- TGACAAAGAGAGCTAGTCCAC -3'
(R):5'- GTTTGCAAACCAAGGTTCTAGC -3'
Posted On 2015-12-29