Incidental Mutation 'R2240:Uggt2'
ID 240345
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 040240-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R2240 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 119222451-119336842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119232461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 1463 (E1463D)
Ref Sequence ENSEMBL: ENSMUSP00000121249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000156203]
AlphaFold E9Q4X2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126023
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148022
Predicted Effect probably damaging
Transcript: ENSMUST00000156203
AA Change: E1463D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: E1463D

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,595,417 (GRCm39) I318N probably damaging Het
Abl1 A G 2: 31,690,517 (GRCm39) K679E probably benign Het
Actr8 A G 14: 29,711,714 (GRCm39) H420R possibly damaging Het
Arhgap29 T A 3: 121,805,102 (GRCm39) V897D probably benign Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bicc1 A G 10: 70,782,633 (GRCm39) probably null Het
Brd4 T C 17: 32,432,613 (GRCm39) probably benign Het
Camk2g T C 14: 20,815,514 (GRCm39) E184G probably damaging Het
Camta1 T C 4: 151,169,032 (GRCm39) S240G possibly damaging Het
Cbx7 C A 15: 79,802,558 (GRCm39) A240S probably damaging Het
Ccdc181 A T 1: 164,107,596 (GRCm39) D93V probably damaging Het
Ces2g A C 8: 105,689,134 (GRCm39) S37R probably benign Het
Clca3a1 T A 3: 144,714,746 (GRCm39) R624W probably damaging Het
Clca3b T C 3: 144,531,696 (GRCm39) K703E probably benign Het
Clec2h T C 6: 128,652,845 (GRCm39) V204A probably benign Het
Cltb T C 13: 54,746,967 (GRCm39) N3S possibly damaging Het
Col9a1 A G 1: 24,218,582 (GRCm39) I65V unknown Het
D430041D05Rik C T 2: 103,987,161 (GRCm39) R1895Q probably damaging Het
Dnah1 T C 14: 31,021,931 (GRCm39) S1191G probably benign Het
Ehf G A 2: 103,104,420 (GRCm39) P163S probably benign Het
Fam170b A C 14: 32,557,825 (GRCm39) H220P probably damaging Het
Fastkd1 G A 2: 69,527,297 (GRCm39) T598I probably benign Het
Fignl2 C T 15: 100,951,916 (GRCm39) G122D probably damaging Het
Foxp4 C A 17: 48,182,201 (GRCm39) V530L unknown Het
Gcnt1 G T 19: 17,306,695 (GRCm39) D343E possibly damaging Het
Gja8 T G 3: 96,827,618 (GRCm39) N15H probably benign Het
Gm128 T C 3: 95,148,243 (GRCm39) E17G probably benign Het
Gnl1 T C 17: 36,293,571 (GRCm39) V252A probably benign Het
Gpld1 G A 13: 25,166,490 (GRCm39) probably null Het
Gpr179 A G 11: 97,242,559 (GRCm39) L95P probably damaging Het
Gtf2a1 A T 12: 91,553,513 (GRCm39) D31E possibly damaging Het
Il12a T A 3: 68,601,517 (GRCm39) Y58* probably null Het
Il1r2 T C 1: 40,144,630 (GRCm39) W106R probably damaging Het
Kif26b A G 1: 178,543,488 (GRCm39) S374G probably benign Het
Mafb A T 2: 160,207,947 (GRCm39) V217E probably damaging Het
Mapk13 T A 17: 28,997,085 (GRCm39) D292E probably damaging Het
Matn2 A G 15: 34,433,209 (GRCm39) D871G probably damaging Het
Mdn1 C A 4: 32,765,701 (GRCm39) T5220K possibly damaging Het
Mfsd6 T C 1: 52,699,978 (GRCm39) I723M probably damaging Het
Mia2 G A 12: 59,154,668 (GRCm39) S127N probably benign Het
Mpeg1 A C 19: 12,440,402 (GRCm39) E620A probably damaging Het
Mrgprb3 A T 7: 48,293,389 (GRCm39) F54Y probably damaging Het
Mtx2 A G 2: 74,699,696 (GRCm39) I156V probably benign Het
Neurog1 T C 13: 56,399,348 (GRCm39) E133G probably damaging Het
Nid2 G A 14: 19,855,982 (GRCm39) D1236N probably damaging Het
Nif3l1 A G 1: 58,491,288 (GRCm39) T213A probably benign Het
Or7e173 A G 9: 19,938,440 (GRCm39) S265P probably damaging Het
Otog A G 7: 45,890,453 (GRCm39) M1V probably null Het
Pde4dip C T 3: 97,631,480 (GRCm39) R1143K probably benign Het
Pgam2 T C 11: 5,753,265 (GRCm39) probably benign Het
Plec T C 15: 76,090,250 (GRCm39) D30G probably damaging Het
Pramel5 C A 4: 143,999,506 (GRCm39) E194* probably null Het
Prss22 T A 17: 24,215,755 (GRCm39) S56C probably damaging Het
Rab23 A G 1: 33,778,406 (GRCm39) N216S probably benign Het
Rasgrf1 A T 9: 89,858,815 (GRCm39) E491V probably damaging Het
Rbbp8 C T 18: 11,810,726 (GRCm39) T76I probably damaging Het
Rtn2 G A 7: 19,020,754 (GRCm39) probably null Het
Sdr39u1 A T 14: 56,137,124 (GRCm39) N62K probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc26a3 T C 12: 31,507,071 (GRCm39) V342A probably damaging Het
Slc49a3 A G 5: 108,592,573 (GRCm39) S234P probably benign Het
Snx30 G T 4: 59,886,515 (GRCm39) C308F probably damaging Het
Timd2 A T 11: 46,569,043 (GRCm39) V205E probably benign Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfaip6 G A 2: 51,940,926 (GRCm39) D156N probably benign Het
Urb2 C A 8: 124,756,878 (GRCm39) P862T probably benign Het
Vmn1r64 A T 7: 5,887,369 (GRCm39) L58* probably null Het
Vmn2r3 C A 3: 64,166,483 (GRCm39) G883C probably benign Het
Vps13d A T 4: 144,837,465 (GRCm39) C2707S possibly damaging Het
Wdr11 G T 7: 129,207,418 (GRCm39) probably null Het
Wdr37 T A 13: 8,911,268 (GRCm39) probably benign Het
Wtap G A 17: 13,194,352 (GRCm39) Q95* probably null Het
Zfp26 A T 9: 20,348,563 (GRCm39) L667H probably damaging Het
Zfp268 C T 4: 145,311,891 (GRCm39) probably benign 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
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
R4770:Uggt2 UTSW 14 119,266,466 (GRCm39) splice site probably null
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'- AGGAAACACTGACATGACTCGG -3'
(R):5'- TGTGTAGCCACCCAGTACACAG -3'

Sequencing Primer
(F):5'- CTCACTAAGAGCAGCCTGTG -3'
(R):5'- CAGTAGGCTGTGCTTTTCATAG -3'
Posted On 2014-10-15