Incidental Mutation 'R1078:Soat2'
ID 85754
Institutional Source Beutler Lab
Gene Symbol Soat2
Ensembl Gene ENSMUSG00000023045
Gene Name sterol O-acyltransferase 2
Synonyms D15Wsu97e, ACAT2
MMRRC Submission 039164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R1078 (G1)
Quality Score 193
Status Validated
Chromosome 15
Chromosomal Location 102058961-102071904 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 102061573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023806] [ENSMUST00000023807]
AlphaFold O88908
Predicted Effect probably null
Transcript: ENSMUST00000023806
SMART Domains Protein: ENSMUSP00000023806
Gene: ENSMUSG00000023045

low complexity region 7 19 N/A INTRINSIC
low complexity region 52 63 N/A INTRINSIC
transmembrane domain 121 143 N/A INTRINSIC
Pfam:MBOAT 147 497 3.3e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023807
SMART Domains Protein: ENSMUSP00000023807
Gene: ENSMUSG00000023046

IB 28 107 3.99e-23 SMART
TY 185 236 1.59e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160465
SMART Domains Protein: ENSMUSP00000124628
Gene: ENSMUSG00000023045

low complexity region 23 34 N/A INTRINSIC
transmembrane domain 92 114 N/A INTRINSIC
transmembrane domain 134 156 N/A INTRINSIC
transmembrane domain 163 185 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.4%
  • 20x: 94.4%
Validation Efficiency 96% (53/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals exhibit elevated serum triglyceride levels and are resistant to fatty liver, hyperlipidemia, and gallstone development when fed a high fat, high cholesterol diet. When fed a Western diet homozygous mutant animals exhibit elevated HDL levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik T C 5: 66,145,698 (GRCm39) T138A unknown Het
Abi3bp T C 16: 56,474,444 (GRCm39) probably null Het
Alpk3 A T 7: 80,728,348 (GRCm39) M493L probably benign Het
Bace2 C T 16: 97,158,060 (GRCm39) A20V unknown Het
Bms1 T C 6: 118,382,182 (GRCm39) D452G probably benign Het
Ccdc187 T C 2: 26,184,389 (GRCm39) T3A probably damaging Het
Ctu2 T C 8: 123,208,238 (GRCm39) V95A possibly damaging Het
Cyp2a5 A G 7: 26,534,966 (GRCm39) K60E probably benign Het
Cyp4f13 T C 17: 33,144,542 (GRCm39) H318R probably damaging Het
Dlgap5 G A 14: 47,637,023 (GRCm39) T485M probably damaging Het
Dsp C T 13: 38,367,082 (GRCm39) probably benign Het
Ell2 T C 13: 75,894,538 (GRCm39) probably benign Het
Eml2 A T 7: 18,913,687 (GRCm39) Y168F probably benign Het
Entrep1 T A 19: 23,950,939 (GRCm39) R547S probably benign Het
Ep400 C T 5: 110,883,388 (GRCm39) probably benign Het
Ercc4 C A 16: 12,948,061 (GRCm39) A336D probably benign Het
Fat4 T C 3: 39,037,235 (GRCm39) L3629S probably benign Het
Gabbr2 C T 4: 46,664,833 (GRCm39) R925H probably damaging Het
Gfi1b A T 2: 28,503,877 (GRCm39) W108R probably damaging Het
Gtse1 C T 15: 85,746,508 (GRCm39) P108L probably damaging Het
Hfm1 A T 5: 107,026,696 (GRCm39) F140I probably damaging Het
Hyal2 T A 9: 107,449,445 (GRCm39) H400Q probably benign Het
Igfn1 A G 1: 135,902,585 (GRCm39) Y371H probably damaging Het
Il22b T G 10: 118,126,056 (GRCm39) *180C probably null Het
Kdm2b T C 5: 123,099,604 (GRCm39) T118A possibly damaging Het
Lama5 A T 2: 179,821,557 (GRCm39) probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lmo7 C T 14: 102,157,910 (GRCm39) probably benign Het
Lrrc37a G T 11: 103,388,457 (GRCm39) P2323T unknown Het
Lrrc38 A G 4: 143,077,088 (GRCm39) Y117C probably benign Het
Myo1e T C 9: 70,291,281 (GRCm39) V1024A probably benign Het
Myrfl T C 10: 116,612,637 (GRCm39) N904S possibly damaging Het
Or12d13 T A 17: 37,647,917 (GRCm39) I69F probably damaging Het
Or4k47 T C 2: 111,451,690 (GRCm39) H243R probably damaging Het
Or9g4b T C 2: 85,616,437 (GRCm39) V194A possibly damaging Het
Pld4 A T 12: 112,729,876 (GRCm39) I53F probably benign Het
Plekhg4 T A 8: 106,108,309 (GRCm39) C1117* probably null Het
Prss39 G A 1: 34,541,167 (GRCm39) E224K probably benign Het
Psme1 G T 14: 55,818,107 (GRCm39) G149V probably damaging Het
Sanbr A C 11: 23,561,762 (GRCm39) I358S probably benign Het
Stab2 C T 10: 86,742,997 (GRCm39) probably null Het
Tcf7l2 A G 19: 55,731,627 (GRCm39) T127A probably benign Het
Tcp1 T C 17: 13,142,091 (GRCm39) probably benign Het
Thbs4 G A 13: 92,899,434 (GRCm39) probably benign Het
Tmf1 T C 6: 97,150,261 (GRCm39) D482G probably damaging Het
Trim66 G T 7: 109,071,526 (GRCm39) P591H probably damaging Het
Umodl1 T C 17: 31,178,347 (GRCm39) S108P probably benign Het
Unc79 T G 12: 103,041,112 (GRCm39) M715R probably benign Het
Usp34 C A 11: 23,383,175 (GRCm39) probably benign Het
Utrn T G 10: 12,331,310 (GRCm39) probably null Het
Zfp830 T C 11: 82,656,165 (GRCm39) probably null Het
Other mutations in Soat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02458:Soat2 APN 15 102,070,550 (GRCm39) missense probably damaging 0.96
IGL03093:Soat2 APN 15 102,066,078 (GRCm39) missense probably damaging 1.00
R0091:Soat2 UTSW 15 102,066,574 (GRCm39) missense probably damaging 1.00
R0391:Soat2 UTSW 15 102,067,188 (GRCm39) missense possibly damaging 0.92
R0396:Soat2 UTSW 15 102,059,142 (GRCm39) unclassified probably benign
R3421:Soat2 UTSW 15 102,065,244 (GRCm39) splice site probably benign
R3422:Soat2 UTSW 15 102,065,244 (GRCm39) splice site probably benign
R3754:Soat2 UTSW 15 102,065,513 (GRCm39) missense probably damaging 1.00
R4062:Soat2 UTSW 15 102,069,526 (GRCm39) missense possibly damaging 0.85
R4623:Soat2 UTSW 15 102,066,144 (GRCm39) intron probably benign
R5004:Soat2 UTSW 15 102,069,546 (GRCm39) missense probably damaging 1.00
R5808:Soat2 UTSW 15 102,062,460 (GRCm39) splice site probably null
R6481:Soat2 UTSW 15 102,070,490 (GRCm39) missense probably damaging 1.00
R6595:Soat2 UTSW 15 102,069,028 (GRCm39) missense probably damaging 0.98
R6876:Soat2 UTSW 15 102,069,049 (GRCm39) missense probably damaging 1.00
R7345:Soat2 UTSW 15 102,071,013 (GRCm39) missense probably benign 0.13
R7429:Soat2 UTSW 15 102,062,735 (GRCm39) missense probably damaging 1.00
R7572:Soat2 UTSW 15 102,062,456 (GRCm39) critical splice donor site probably null
R7653:Soat2 UTSW 15 102,071,013 (GRCm39) missense probably damaging 1.00
R7867:Soat2 UTSW 15 102,059,598 (GRCm39) critical splice donor site probably null
R7910:Soat2 UTSW 15 102,069,106 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- gctcaaaatcgccactctc -3'
Posted On 2013-11-18