Incidental Mutation 'R5090:Hmgcr'
ID 387712
Institutional Source Beutler Lab
Gene Symbol Hmgcr
Ensembl Gene ENSMUSG00000021670
Gene Name 3-hydroxy-3-methylglutaryl-Coenzyme A reductase
Synonyms Red, 3-hydroxy-3-methylglutaryl-CoA reductase, HMG-CoAR
MMRRC Submission 042679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5090 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 96785475-96807444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96787098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 162 (K162E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022176] [ENSMUST00000168855] [ENSMUST00000169202] [ENSMUST00000170287]
AlphaFold Q01237
Predicted Effect probably benign
Transcript: ENSMUST00000022176
AA Change: K885E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022176
Gene: ENSMUSG00000021670
AA Change: K885E

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Patched 56 342 2.7e-11 PFAM
Pfam:Sterol-sensing 85 234 3.4e-20 PFAM
Pfam:HMG-CoA_red 490 870 2.2e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168855
Predicted Effect probably benign
Transcript: ENSMUST00000169202
SMART Domains Protein: ENSMUSP00000132155
Gene: ENSMUSG00000021670

DomainStartEndE-ValueType
Pfam:HMG-CoA_red 35 219 8.8e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169945
AA Change: K162E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128642
Gene: ENSMUSG00000021670
AA Change: K162E

DomainStartEndE-ValueType
Pfam:HMG-CoA_red 1 96 1.8e-37 PFAM
Pfam:HMG-CoA_red 96 148 2.8e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170287
SMART Domains Protein: ENSMUSP00000128939
Gene: ENSMUSG00000021670

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
Pfam:Patched 56 347 1.4e-11 PFAM
Pfam:Sterol-sensing 85 234 7.4e-20 PFAM
Pfam:HMG-CoA_red 488 819 1.3e-148 PFAM
Meta Mutation Damage Score 0.0769 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 99% (66/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Inactivation of both copies of this gene results in early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,984,422 (GRCm39) S1168G probably damaging Het
Acsf2 A T 11: 94,462,095 (GRCm39) probably null Het
Ankk1 G T 9: 49,333,063 (GRCm39) S140R probably damaging Het
Ash1l G T 3: 88,960,184 (GRCm39) K2305N probably damaging Het
Asnsd1 C T 1: 53,391,563 (GRCm39) probably benign Het
Atxn7l1 T C 12: 33,376,077 (GRCm39) S51P probably damaging Het
Ccdc88c A G 12: 100,920,439 (GRCm39) L394P probably damaging Het
Cd200r1 T A 16: 44,609,924 (GRCm39) S48T possibly damaging Het
Cemip T C 7: 83,591,343 (GRCm39) E1243G probably damaging Het
Cep192 T A 18: 67,993,617 (GRCm39) H1977Q possibly damaging Het
Cep250 T C 2: 155,818,324 (GRCm39) L833P probably damaging Het
Chd9 C A 8: 91,753,462 (GRCm39) Y1818* probably null Het
Clca3a1 C A 3: 144,443,633 (GRCm39) V706L probably benign Het
Cntln T C 4: 84,865,830 (GRCm39) V162A probably damaging Het
Col5a1 G A 2: 27,908,614 (GRCm39) W67* probably null Het
Cux1 T A 5: 136,342,054 (GRCm39) N446I possibly damaging Het
Dlg1 G T 16: 31,656,902 (GRCm39) G599W probably damaging Het
Dock7 C T 4: 98,879,648 (GRCm39) V969I probably benign Het
Ephb3 T C 16: 21,033,237 (GRCm39) C74R probably damaging Het
Fads6 T A 11: 115,187,480 (GRCm39) T72S probably benign Het
Fra10ac1 C T 19: 38,202,873 (GRCm39) R110Q probably damaging Het
Gdf3 T A 6: 122,586,713 (GRCm39) L71F probably benign Het
Gm6685 A G 11: 28,289,253 (GRCm39) Y188H probably benign Het
Gm6981 A C 9: 51,914,142 (GRCm39) noncoding transcript Het
Gnpda1 T C 18: 38,465,146 (GRCm39) T157A probably damaging Het
Grap2 A C 15: 80,522,683 (GRCm39) N70H possibly damaging Het
Gvin3 T A 7: 106,200,109 (GRCm39) noncoding transcript Het
Hdac5 G A 11: 102,088,539 (GRCm39) R887C probably damaging Het
Hectd3 T A 4: 116,857,435 (GRCm39) probably benign Het
Inpp5e A T 2: 26,289,383 (GRCm39) probably null Het
Kifap3 A G 1: 163,683,645 (GRCm39) D442G possibly damaging Het
Lama3 A G 18: 12,675,459 (GRCm39) T1015A possibly damaging Het
Lcp2 T A 11: 34,039,725 (GRCm39) Y508* probably null Het
Map1b G T 13: 99,566,534 (GRCm39) Y2062* probably null Het
Mipep A G 14: 61,039,748 (GRCm39) D259G possibly damaging Het
Mmp2 T C 8: 93,579,202 (GRCm39) F97S probably damaging Het
Mrpl18 A C 17: 13,132,697 (GRCm39) M144R probably damaging Het
Nek9 A G 12: 85,376,616 (GRCm39) probably null Het
Nmral1 A T 16: 4,532,395 (GRCm39) Y139N probably damaging Het
Notch4 T C 17: 34,799,894 (GRCm39) C952R probably damaging Het
Nsf T C 11: 103,801,404 (GRCm39) N204D probably benign Het
P2rx4 A T 5: 122,863,118 (GRCm39) D197V probably damaging Het
Pak5 A T 2: 135,929,338 (GRCm39) I615N probably damaging Het
Parp10 T C 15: 76,125,925 (GRCm39) D421G probably damaging Het
Pcdha6 A T 18: 37,101,770 (GRCm39) D321V probably benign Het
Pkhd1 T A 1: 20,270,981 (GRCm39) I3191F probably damaging Het
Psmd4 T C 3: 94,942,559 (GRCm39) N7S possibly damaging Het
Ptprq A G 10: 107,361,950 (GRCm39) V2084A probably damaging Het
Rab3gap1 A G 1: 127,843,415 (GRCm39) E263G probably benign Het
Rbm5 A G 9: 107,637,511 (GRCm39) probably benign Het
Sacs T C 14: 61,442,702 (GRCm39) F1583L probably damaging Het
Sel1l3 G T 5: 53,357,388 (GRCm39) H201Q probably benign Het
Shoc1 T C 4: 59,111,108 (GRCm39) T55A unknown Het
Tdpoz3 T A 3: 93,733,870 (GRCm39) W182R possibly damaging Het
Trim55 A G 3: 19,725,771 (GRCm39) N313S probably benign Het
Usp17lb A T 7: 104,490,290 (GRCm39) D212E probably benign Het
Xirp2 A G 2: 67,355,814 (GRCm39) E3525G possibly damaging Het
Zfp236 T C 18: 82,637,006 (GRCm39) T1379A probably benign Het
Zfp553 A T 7: 126,834,659 (GRCm39) E71D probably damaging Het
Znrf1 T G 8: 112,265,035 (GRCm39) F21V probably benign Het
Other mutations in Hmgcr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Hmgcr APN 13 96,795,786 (GRCm39) missense probably benign
IGL01369:Hmgcr APN 13 96,803,030 (GRCm39) missense probably null 1.00
IGL01575:Hmgcr APN 13 96,793,103 (GRCm39) missense possibly damaging 0.56
IGL02183:Hmgcr APN 13 96,799,635 (GRCm39) missense probably damaging 1.00
IGL02515:Hmgcr APN 13 96,803,020 (GRCm39) splice site probably benign
IGL02716:Hmgcr APN 13 96,796,520 (GRCm39) critical splice acceptor site probably null
IGL03278:Hmgcr APN 13 96,793,270 (GRCm39) splice site probably benign
IGL03367:Hmgcr APN 13 96,802,361 (GRCm39) missense probably damaging 0.98
PIT4131001:Hmgcr UTSW 13 96,795,562 (GRCm39) missense probably damaging 1.00
PIT4504001:Hmgcr UTSW 13 96,799,605 (GRCm39) missense possibly damaging 0.95
R0003:Hmgcr UTSW 13 96,788,653 (GRCm39) missense probably damaging 1.00
R0017:Hmgcr UTSW 13 96,788,597 (GRCm39) splice site probably benign
R0017:Hmgcr UTSW 13 96,788,597 (GRCm39) splice site probably benign
R0217:Hmgcr UTSW 13 96,788,488 (GRCm39) missense probably damaging 1.00
R0511:Hmgcr UTSW 13 96,796,651 (GRCm39) splice site probably null
R0707:Hmgcr UTSW 13 96,787,151 (GRCm39) unclassified probably benign
R1301:Hmgcr UTSW 13 96,795,528 (GRCm39) missense probably damaging 0.97
R2203:Hmgcr UTSW 13 96,793,141 (GRCm39) missense probably damaging 1.00
R2204:Hmgcr UTSW 13 96,793,141 (GRCm39) missense probably damaging 1.00
R2433:Hmgcr UTSW 13 96,802,393 (GRCm39) missense probably damaging 1.00
R2938:Hmgcr UTSW 13 96,799,576 (GRCm39) missense probably damaging 0.99
R3159:Hmgcr UTSW 13 96,802,355 (GRCm39) missense probably damaging 1.00
R3737:Hmgcr UTSW 13 96,787,571 (GRCm39) missense probably damaging 1.00
R3752:Hmgcr UTSW 13 96,799,624 (GRCm39) missense probably damaging 1.00
R3837:Hmgcr UTSW 13 96,795,597 (GRCm39) missense probably benign 0.19
R3838:Hmgcr UTSW 13 96,795,597 (GRCm39) missense probably benign 0.19
R3839:Hmgcr UTSW 13 96,795,597 (GRCm39) missense probably benign 0.19
R4034:Hmgcr UTSW 13 96,787,571 (GRCm39) missense probably damaging 1.00
R4035:Hmgcr UTSW 13 96,787,571 (GRCm39) missense probably damaging 1.00
R4210:Hmgcr UTSW 13 96,796,729 (GRCm39) missense probably damaging 1.00
R4783:Hmgcr UTSW 13 96,802,701 (GRCm39) missense probably damaging 1.00
R4820:Hmgcr UTSW 13 96,796,700 (GRCm39) missense probably damaging 1.00
R5113:Hmgcr UTSW 13 96,793,240 (GRCm39) missense probably benign 0.00
R5209:Hmgcr UTSW 13 96,803,020 (GRCm39) splice site probably benign
R5354:Hmgcr UTSW 13 96,791,404 (GRCm39) missense probably benign 0.26
R5571:Hmgcr UTSW 13 96,803,171 (GRCm39) missense probably benign 0.11
R5804:Hmgcr UTSW 13 96,802,695 (GRCm39) missense probably damaging 0.98
R5886:Hmgcr UTSW 13 96,796,691 (GRCm39) missense probably damaging 1.00
R6340:Hmgcr UTSW 13 96,802,366 (GRCm39) missense probably damaging 1.00
R6638:Hmgcr UTSW 13 96,795,490 (GRCm39) missense probably benign
R6699:Hmgcr UTSW 13 96,796,717 (GRCm39) missense probably damaging 1.00
R7024:Hmgcr UTSW 13 96,795,418 (GRCm39) missense probably benign 0.10
R7061:Hmgcr UTSW 13 96,802,656 (GRCm39) missense possibly damaging 0.64
R7284:Hmgcr UTSW 13 96,789,173 (GRCm39) missense probably damaging 1.00
R7286:Hmgcr UTSW 13 96,803,105 (GRCm39) missense probably damaging 1.00
R7705:Hmgcr UTSW 13 96,793,231 (GRCm39) missense probably benign 0.01
R7709:Hmgcr UTSW 13 96,799,605 (GRCm39) missense possibly damaging 0.95
R9034:Hmgcr UTSW 13 96,795,885 (GRCm39) missense probably damaging 1.00
R9158:Hmgcr UTSW 13 96,792,170 (GRCm39) nonsense probably null
R9253:Hmgcr UTSW 13 96,796,645 (GRCm39) missense probably damaging 1.00
R9474:Hmgcr UTSW 13 96,796,403 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGCAAAGAACCTCAGACGTC -3'
(R):5'- CTGGTCTGGGAATTACCACTAAAATG -3'

Sequencing Primer
(F):5'- AGACGTCTCTGAAAGCGC -3'
(R):5'- ACTTGGCAAGTTCCAGGCTACTG -3'
Posted On 2016-06-06