Incidental Mutation 'R1567:Uggt2'
ID 175371
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 039606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R1567 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 119222451-119336842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119246505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1204 (F1204L)
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 noncoding transcript
Transcript: ENSMUST00000148648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154130
Predicted Effect possibly damaging
Transcript: ENSMUST00000156203
AA Change: F1204L

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: F1204L

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 benign
Transcript: ENSMUST00000173391
SMART Domains Protein: ENSMUSP00000133772
Gene: ENSMUSG00000042104

DomainStartEndE-ValueType
Pfam:UDP-g_GGTase 2 63 9.4e-18 PFAM
SCOP:d1ga8a_ 77 216 3e-21 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,030,352 (GRCm39) V155I probably benign Het
Actrt2 T C 4: 154,751,371 (GRCm39) Q255R possibly damaging Het
Adar A T 3: 89,643,088 (GRCm39) H323L probably benign Het
Adgrg5 T A 8: 95,664,326 (GRCm39) V312E probably damaging Het
Anapc1 T C 2: 128,459,636 (GRCm39) T1808A probably damaging Het
Aox3 C A 1: 58,233,852 (GRCm39) A1285E probably damaging Het
Arhgap40 T A 2: 158,388,719 (GRCm39) L551Q probably damaging Het
Blk A G 14: 63,618,178 (GRCm39) S243P probably damaging Het
Cfap206 G T 4: 34,716,490 (GRCm39) A325E probably benign Het
Cimap1b C A 15: 89,261,981 (GRCm39) R137L probably benign Het
Cnn3 A T 3: 121,243,607 (GRCm39) K23* probably null Het
Cog8 G A 8: 107,780,740 (GRCm39) R173* probably null Het
Col11a1 G A 3: 113,932,261 (GRCm39) R880H unknown Het
Cyp2c40 T C 19: 39,792,215 (GRCm39) Q243R probably null Het
Dcbld1 A G 10: 52,195,752 (GRCm39) E391G probably damaging Het
Dchs1 C A 7: 105,421,068 (GRCm39) A451S probably benign Het
Ddx43 A G 9: 78,323,991 (GRCm39) K441E probably damaging Het
Depdc1a A T 3: 159,228,177 (GRCm39) I310F possibly damaging Het
Dnah17 C T 11: 118,016,811 (GRCm39) V247M probably damaging Het
Dtd1 G T 2: 144,588,945 (GRCm39) G201V probably damaging Het
Eif1ad3 A T 12: 87,843,754 (GRCm39) I134F unknown Het
Enoph1 G A 5: 100,208,884 (GRCm39) G80S probably benign Het
Fam76a A T 4: 132,645,039 (GRCm39) Y48* probably null Het
Fut9 T G 4: 25,620,344 (GRCm39) T157P probably damaging Het
Gm57859 T A 11: 113,578,728 (GRCm39) V41D probably damaging Het
Gtpbp1 T C 15: 79,596,391 (GRCm39) I310T probably damaging Het
Hk3 T A 13: 55,154,418 (GRCm39) I753F probably damaging Het
Hnrnpl G T 7: 28,519,608 (GRCm39) A419S possibly damaging Het
Ighv5-6 T C 12: 113,589,528 (GRCm39) probably benign Het
Itpkb A G 1: 180,249,423 (GRCm39) T933A probably benign Het
Kcnn2 T G 18: 45,803,401 (GRCm39) probably null Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lmcd1 C T 6: 112,287,526 (GRCm39) R71C probably damaging Het
Mrgprb1 A T 7: 48,097,201 (GRCm39) V237E probably damaging Het
Mybl1 T A 1: 9,755,976 (GRCm39) E191V probably damaging Het
Nbas T A 12: 13,335,279 (GRCm39) F158I possibly damaging Het
Nbr1 C G 11: 101,466,037 (GRCm39) L748V probably damaging Het
Nlrp10 G A 7: 108,526,257 (GRCm39) T27M probably benign Het
Notch3 G A 17: 32,377,554 (GRCm39) T174I possibly damaging Het
Nup85 T A 11: 115,459,224 (GRCm39) I109K possibly damaging Het
Or10h28 A G 17: 33,488,450 (GRCm39) I251V probably benign Het
Or2b28 A T 13: 21,531,595 (GRCm39) I166L probably benign Het
Or2n1e A G 17: 38,586,459 (GRCm39) I266V possibly damaging Het
Or4c12b T C 2: 89,647,528 (GRCm39) L280P probably damaging Het
Or4k48 G T 2: 111,476,271 (GRCm39) Q24K possibly damaging Het
Or5b105 T C 19: 13,080,006 (GRCm39) T221A probably benign Het
Phf2 T C 13: 48,985,589 (GRCm39) K64E unknown Het
Polr2a T C 11: 69,636,857 (GRCm39) T365A probably benign Het
Prkcd A G 14: 30,329,405 (GRCm39) C12R probably benign Het
Ptprq T C 10: 107,401,748 (GRCm39) I1915V probably benign Het
Rcbtb2 G A 14: 73,399,902 (GRCm39) V112I probably benign Het
Rxfp3 A G 15: 11,036,187 (GRCm39) V395A probably benign Het
Ryr2 C A 13: 11,774,563 (GRCm39) G1198C possibly damaging Het
Scn1a T A 2: 66,103,675 (GRCm39) I1851F probably damaging Het
Selenop A G 15: 3,309,180 (GRCm39) *377W probably null Het
Sema4a A T 3: 88,359,353 (GRCm39) C113S probably damaging Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Speg T C 1: 75,404,691 (GRCm39) S2575P probably benign Het
Stk24 T A 14: 121,545,468 (GRCm39) I97L probably benign Het
Tap2 A G 17: 34,433,065 (GRCm39) K449R probably benign Het
Tecpr2 T A 12: 110,908,030 (GRCm39) probably null Het
Ttn T A 2: 76,727,955 (GRCm39) probably benign Het
Ugt2b36 T C 5: 87,240,258 (GRCm39) I42M probably damaging Het
Zdhhc8 A G 16: 18,044,984 (GRCm39) L274P probably benign Het
Zfp974 C A 7: 27,610,148 (GRCm39) D526Y probably damaging 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
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'- AGAACGCACAAACCCAGTGGATTT -3'
(R):5'- GGTATGAACATGGCAGGCTGTACTT -3'

Sequencing Primer
(F):5'- taataatGGCGGGTATGAAAATAAGC -3'
(R):5'- ATGGCAGGCTGTACTTCATTC -3'
Posted On 2014-04-24