Incidental Mutation 'R7938:Uggt2'
ID 648896
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 045984-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R7938 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 119222451-119336842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119296519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 448 (I448F)
Ref Sequence ENSEMBL: ENSMUSP00000121249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000127153] [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 possibly damaging
Transcript: ENSMUST00000156203
AA Change: I448F

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: I448F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Bcam T G 7: 19,490,738 (GRCm39) E586D probably benign Het
Bmp7 A C 2: 172,721,283 (GRCm39) I264S probably benign Het
Casz1 G A 4: 149,028,943 (GRCm39) M1129I probably benign Het
Ccdc59 T A 10: 105,677,455 (GRCm39) N31K probably benign Het
Cfap61 A G 2: 145,887,376 (GRCm39) Y607C probably benign Het
Cnga1 T C 5: 72,761,597 (GRCm39) E639G probably benign Het
Coch T A 12: 51,643,366 (GRCm39) probably null Het
Col6a6 A C 9: 105,657,883 (GRCm39) Y776* probably null Het
Cyp1a1 T G 9: 57,609,073 (GRCm39) L318R probably damaging Het
Cyp3a16 T A 5: 145,389,666 (GRCm39) Y233F probably benign Het
Dgkz G T 2: 91,795,817 (GRCm39) R42S probably damaging Het
Dner A G 1: 84,673,218 (GRCm39) Y78H possibly damaging Het
Fat2 T C 11: 55,163,922 (GRCm39) N3111S probably damaging Het
Frmpd2 T C 14: 33,260,246 (GRCm39) S768P probably benign Het
Gm45861 T A 8: 28,071,990 (GRCm39) N1269K unknown Het
Gpr12 T A 5: 146,520,094 (GRCm39) Y276F possibly damaging Het
Hace1 C T 10: 45,562,792 (GRCm39) P769L probably benign Het
Hapln1 G A 13: 89,753,347 (GRCm39) R171H probably damaging Het
Hlx T G 1: 184,464,125 (GRCm39) T72P probably benign Het
Iqcm G T 8: 76,304,596 (GRCm39) C119F probably benign Het
Katna1 G T 10: 7,637,075 (GRCm39) A409S probably benign Het
Kcnip2 A T 19: 45,782,729 (GRCm39) I204N probably damaging Het
Kel G T 6: 41,675,310 (GRCm39) Q314K probably benign Het
Klf5 T C 14: 99,536,444 (GRCm39) V5A probably damaging Het
Lax1 A T 1: 133,607,896 (GRCm39) C282S probably benign Het
Lyar A G 5: 38,388,295 (GRCm39) T274A probably benign Het
Mboat1 A G 13: 30,415,959 (GRCm39) H306R possibly damaging Het
Morn5 A T 2: 35,947,082 (GRCm39) Y120F probably benign Het
Mrgprx2 T C 7: 48,132,240 (GRCm39) T193A probably benign Het
Myh10 T A 11: 68,583,327 (GRCm39) W8R unknown Het
Nfasc A G 1: 132,533,269 (GRCm39) V644A probably damaging Het
Nup153 G T 13: 46,842,855 (GRCm39) probably null Het
Nup50l T C 6: 96,141,866 (GRCm39) K393E possibly damaging Het
Or1o4 T A 17: 37,590,991 (GRCm39) M107L probably benign Het
Or4x6 A T 2: 89,949,173 (GRCm39) Y256* probably null Het
Or5h19 A T 16: 58,856,325 (GRCm39) Y258* probably null Het
Orc4 A T 2: 48,800,203 (GRCm39) V315E possibly damaging Het
Pcsk5 T A 19: 17,443,549 (GRCm39) probably null Het
Pif1 A G 9: 65,502,073 (GRCm39) D635G probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ppfia2 A G 10: 106,310,648 (GRCm39) T52A probably damaging Het
Ppp1r36 A T 12: 76,485,180 (GRCm39) D301V probably damaging Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Qser1 A C 2: 104,619,312 (GRCm39) V410G probably damaging Het
Reln A C 5: 22,155,870 (GRCm39) N2207K probably damaging Het
Rimkla A G 4: 119,327,810 (GRCm39) V180A probably benign Het
Rpa1 CA C 11: 75,198,050 (GRCm39) probably null Het
Rsph3a G T 17: 8,165,050 (GRCm39) E137* probably null Het
Spata31f1a A G 4: 42,850,765 (GRCm39) S464P possibly damaging Het
Sqle C A 15: 59,196,315 (GRCm39) H369Q probably damaging Het
Srebf2 T A 15: 82,057,016 (GRCm39) D250E probably damaging Het
Svs3b A T 2: 164,097,567 (GRCm39) C251* probably null Het
Tdrd9 A T 12: 111,997,649 (GRCm39) N713Y possibly damaging Het
Terf2ip T C 8: 112,738,717 (GRCm39) S202P possibly damaging Het
Trank1 A G 9: 111,194,096 (GRCm39) T707A probably benign Het
Trav8-1 T G 14: 53,707,688 (GRCm39) D109E possibly damaging Het
Trem2 T A 17: 48,658,777 (GRCm39) S181T probably benign Het
Trim37 A G 11: 87,037,863 (GRCm39) N199S probably benign Het
Tshz3 T C 7: 36,468,583 (GRCm39) F191L probably damaging Het
Ubxn8 A G 8: 34,111,712 (GRCm39) M227T probably damaging Het
Usp47 T A 7: 111,687,132 (GRCm39) L697M probably damaging Het
Vmn2r52 T C 7: 9,893,300 (GRCm39) D613G probably benign Het
Wdr81 T C 11: 75,338,828 (GRCm39) T1444A probably benign Het
Zfp423 T C 8: 88,622,304 (GRCm39) Y11C unknown Het
Zw10 T A 9: 48,982,933 (GRCm39) D521E 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
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
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'- CTGTGCCTACTAGTCAACAGG -3'
(R):5'- TAAGACTGTAGCATGGCGGC -3'

Sequencing Primer
(F):5'- TGTGCCTACTAGTCAACAGGAAAGTC -3'
(R):5'- CCTTAATGTAGTTTTAACAGGT -3'
Posted On 2020-09-15