Incidental Mutation 'R0433:Uggt2'
ID 38962
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 038635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R0433 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 119222451-119336842 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 119312741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000156203] [ENSMUST00000156203]
AlphaFold E9Q4X2
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136924
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
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 99% (108/109)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,636 (GRCm39) V199A possibly damaging Het
Abcb5 T C 12: 118,841,545 (GRCm39) M967V probably benign Het
Adcy10 T A 1: 165,379,591 (GRCm39) L951Q probably damaging Het
Amer2 A T 14: 60,616,032 (GRCm39) S76C probably damaging Het
Atad1 T C 19: 32,675,877 (GRCm39) I182M probably benign Het
Bpi A G 2: 158,100,339 (GRCm39) D42G probably damaging Het
C7 G T 15: 5,018,398 (GRCm39) T815K probably damaging Het
Cacna1g T A 11: 94,350,033 (GRCm39) D604V probably benign Het
Camk1g A G 1: 193,036,366 (GRCm39) F165L probably damaging Het
Ccdc69 C T 11: 54,943,716 (GRCm39) probably null Het
Ccser2 A C 14: 36,640,486 (GRCm39) F37L probably damaging Het
Cfap43 A G 19: 47,814,210 (GRCm39) F208S probably benign Het
Cfap54 G A 10: 92,814,942 (GRCm39) probably benign Het
Cfap69 A C 5: 5,699,853 (GRCm39) D62E probably damaging Het
Cnksr2 A T X: 156,671,554 (GRCm39) M483K probably benign Het
Cnksr2 C A X: 156,671,553 (GRCm39) M483I probably benign Het
Cog8 T C 8: 107,783,110 (GRCm39) S60G possibly damaging Het
Col4a3 C T 1: 82,647,940 (GRCm39) P484S unknown Het
Col6a4 C T 9: 105,945,193 (GRCm39) G974R probably damaging Het
Cplane1 T C 15: 8,246,046 (GRCm39) S1473P probably benign Het
Dbnl T G 11: 5,746,825 (GRCm39) probably null Het
Dhcr7 T C 7: 143,394,200 (GRCm39) C114R possibly damaging Het
Dnah2 C A 11: 69,350,114 (GRCm39) D2340Y probably damaging Het
Dnai4 T C 4: 102,960,450 (GRCm39) N67D probably benign Het
Dusp10 T A 1: 183,801,393 (GRCm39) Y387N probably damaging Het
Eipr1 C T 12: 28,909,330 (GRCm39) T199I possibly damaging Het
Emc2 T G 15: 43,360,520 (GRCm39) probably null Het
Enpp3 A G 10: 24,696,495 (GRCm39) S147P probably benign Het
Fam133b T A 5: 3,608,560 (GRCm39) probably benign Het
Fat1 C A 8: 45,477,686 (GRCm39) T2244K possibly damaging Het
Fbn1 A G 2: 125,190,135 (GRCm39) S1453P possibly damaging Het
Fez2 A T 17: 78,725,476 (GRCm39) F13I probably damaging Het
Ggnbp2 T C 11: 84,727,246 (GRCm39) K530R probably damaging Het
Gpa33 T C 1: 165,991,330 (GRCm39) probably benign Het
Gpr142 T C 11: 114,696,823 (GRCm39) I123T probably damaging Het
Il21 T G 3: 37,286,684 (GRCm39) I11L possibly damaging Het
Klhl7 A G 5: 24,332,700 (GRCm39) E86G probably damaging Het
Klk10 G T 7: 43,430,989 (GRCm39) A11S possibly damaging Het
Knl1 A T 2: 118,934,542 (GRCm39) D2115V probably damaging Het
Lonp2 A G 8: 87,360,582 (GRCm39) D185G probably damaging Het
Lrrc47 T C 4: 154,102,822 (GRCm39) probably benign Het
Lrrcc1 A G 3: 14,624,434 (GRCm39) I698V probably damaging Het
Lzts2 T C 19: 45,010,115 (GRCm39) V83A possibly damaging Het
Melk C A 4: 44,340,614 (GRCm39) probably benign Het
Mical1 G A 10: 41,355,486 (GRCm39) V150I probably benign Het
Morn3 C A 5: 123,177,396 (GRCm39) M129I probably benign Het
Mroh2b T A 15: 4,971,116 (GRCm39) D1040E probably benign Het
Mroh5 T C 15: 73,661,877 (GRCm39) N438S probably benign Het
Mroh5 T A 15: 73,662,657 (GRCm39) Q387L probably damaging Het
Myh15 A G 16: 48,965,599 (GRCm39) D1168G probably damaging Het
Nek10 A G 14: 14,860,927 (GRCm38) E493G probably benign Het
Nipsnap3a A G 4: 53,000,316 (GRCm39) Y227C probably damaging Het
Nlrp9c T A 7: 26,085,244 (GRCm39) T112S probably benign Het
Nphp4 T C 4: 152,602,629 (GRCm39) V401A probably benign Het
Nr1h2 A G 7: 44,199,411 (GRCm39) *365Q probably null Het
Or13p5 T C 4: 118,592,287 (GRCm39) V187A probably benign Het
Or5p54 T C 7: 107,554,469 (GRCm39) I207T probably damaging Het
Pacs2 T A 12: 113,020,464 (GRCm39) V279D possibly damaging Het
Pdcd2 C T 17: 15,746,646 (GRCm39) C171Y probably benign Het
Pde11a T A 2: 76,168,050 (GRCm39) D301V possibly damaging Het
Pfpl T G 19: 12,406,839 (GRCm39) N363K probably damaging Het
Phf14 T A 6: 11,933,742 (GRCm39) S201R probably damaging Het
Pip4k2c G A 10: 127,044,815 (GRCm39) P66S probably benign Het
Pou2f3 G T 9: 43,038,693 (GRCm39) H392N probably benign Het
Pou3f1 G T 4: 124,552,697 (GRCm39) G400C probably damaging Het
Ptprg T C 14: 12,220,620 (GRCm38) I1219T probably damaging Het
Rfx6 A G 10: 51,596,124 (GRCm39) D435G probably damaging Het
Rhpn2 T A 7: 35,084,899 (GRCm39) S598T probably benign Het
Sdccag8 C A 1: 176,672,387 (GRCm39) probably null Het
Sec16b C A 1: 157,362,279 (GRCm39) Y43* probably null Het
Sele T C 1: 163,876,813 (GRCm39) Y30H possibly damaging Het
Sgsm2 C T 11: 74,749,016 (GRCm39) probably null Het
Slc45a2 T C 15: 11,025,831 (GRCm39) Y394H probably benign Het
Slc4a10 T G 2: 62,120,327 (GRCm39) I788S probably benign Het
Slmap A T 14: 26,174,749 (GRCm39) L161* probably null Het
Slx4 A T 16: 3,803,882 (GRCm39) D977E probably benign Het
Spata31e5 A T 1: 28,816,423 (GRCm39) Y536* probably null Het
Spata31f3 A G 4: 42,874,013 (GRCm39) probably benign Het
Spen A T 4: 141,211,069 (GRCm39) M608K unknown Het
St8sia4 G C 1: 95,519,429 (GRCm39) T353R probably damaging Het
Stab2 G T 10: 86,679,355 (GRCm39) probably benign Het
Stx12 C T 4: 132,585,741 (GRCm39) G213D probably damaging Het
Synj2 A T 17: 6,084,123 (GRCm39) N270Y probably damaging Het
Tdrd9 C T 12: 111,992,015 (GRCm39) R438* probably null Het
Tert T C 13: 73,775,200 (GRCm39) Y18H probably damaging Het
Tph1 A T 7: 46,303,245 (GRCm39) F244L probably damaging Het
Triobp T C 15: 78,852,401 (GRCm39) F852L possibly damaging Het
Trpv1 T C 11: 73,143,834 (GRCm39) probably benign Het
Ulk4 A G 9: 120,873,885 (GRCm39) I1182T probably benign Het
Uqcc1 A G 2: 155,752,288 (GRCm39) Y98H probably damaging Het
Usp25 A G 16: 76,906,105 (GRCm39) I854V probably benign Het
Usp50 T C 2: 126,603,464 (GRCm39) S361G probably damaging Het
Uspl1 C A 5: 149,151,625 (GRCm39) Q743K probably damaging Het
Vmn2r3 A G 3: 64,183,054 (GRCm39) V215A possibly damaging Het
Vmn2r61 A T 7: 41,915,335 (GRCm39) H94L probably benign Het
Vps37c T C 19: 10,690,393 (GRCm39) V285A probably benign Het
Vwa8 T C 14: 79,300,116 (GRCm39) V983A probably damaging Het
Zcchc9 C T 13: 91,954,081 (GRCm39) R58H probably benign Het
Zdbf2 T C 1: 63,345,302 (GRCm39) V1227A possibly damaging Het
Zfp292 T C 4: 34,839,959 (GRCm39) K64E probably damaging Het
Zfp948 A G 17: 21,807,764 (GRCm39) T319A probably benign Het
Zp3r T G 1: 130,504,870 (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
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
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'- ACCCGACTTCATGTTCTTTCCAAAACC -3'
(R):5'- GTGTTCCATTGCATACGTGATTGTTCCT -3'

Sequencing Primer
(F):5'- aaaggaaggaaggaaggaaggaag -3'
(R):5'- GCATACGTGATTGTTCCTAAGCAC -3'
Posted On 2013-05-23