Incidental Mutation 'R9034:Hmgcr'
ID 687248
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 068863-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9034 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 96785475-96807444 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96795885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 261 (S261P)
Ref Sequence ENSEMBL: ENSMUSP00000022176 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022176] [ENSMUST00000168855] [ENSMUST00000169196] [ENSMUST00000169202] [ENSMUST00000170287]
AlphaFold Q01237
Predicted Effect probably damaging
Transcript: ENSMUST00000022176
AA Change: S261P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022176
Gene: ENSMUSG00000021670
AA Change: S261P

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: ENSMUST00000169196
SMART Domains Protein: ENSMUSP00000132749
Gene: ENSMUSG00000021670

DomainStartEndE-ValueType
transmembrane domain 20 37 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
Pfam:Sterol-sensing 85 210 4.7e-15 PFAM
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 damaging
Transcript: ENSMUST00000170287
AA Change: S261P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128939
Gene: ENSMUSG00000021670
AA Change: S261P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 95% (57/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,039,615 (GRCm39) D466G probably benign Het
Acvr2a T C 2: 48,763,381 (GRCm39) Y142H probably damaging Het
Agfg1 C T 1: 82,853,913 (GRCm39) Q188* probably null Het
Akap11 C A 14: 78,748,299 (GRCm39) V1363F Het
Aldh3a1 A G 11: 61,104,475 (GRCm39) T121A probably benign Het
Arid1b T A 17: 5,387,180 (GRCm39) D1491E probably benign Het
Baz2a A G 10: 127,952,268 (GRCm39) T617A probably damaging Het
Cacna1c T C 6: 118,728,359 (GRCm39) M362V Het
Cant1 T A 11: 118,302,128 (GRCm39) H63L probably benign Het
Cdkn2aip C A 8: 48,164,243 (GRCm39) C490F probably damaging Het
Cenpn T A 8: 117,661,478 (GRCm39) D192E probably benign Het
Clint1 C A 11: 45,799,782 (GRCm39) L514M probably benign Het
Clint1 T A 11: 45,799,783 (GRCm39) L514Q possibly damaging Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cspg5 T C 9: 110,080,089 (GRCm39) F419S probably damaging Het
Ehmt2 C A 17: 35,122,417 (GRCm39) A328E probably benign Het
Ercc6l2 T C 13: 63,992,447 (GRCm39) S299P probably damaging Het
F13b T C 1: 139,435,961 (GRCm39) C256R probably damaging Het
F830016B08Rik A G 18: 60,433,141 (GRCm39) T75A probably damaging Het
Fam227a T C 15: 79,532,952 (GRCm39) M69V probably benign Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Grin2c C T 11: 115,142,065 (GRCm39) E785K probably damaging Het
H2-M2 A T 17: 37,792,176 (GRCm39) S325T probably benign Het
Impg1 T A 9: 80,347,351 (GRCm39) probably benign Het
Irag2 T C 6: 145,083,273 (GRCm39) V4A probably benign Het
Krit1 A G 5: 3,862,996 (GRCm39) probably benign Het
Krtap26-1 A T 16: 88,444,161 (GRCm39) N153K probably benign Het
Mfsd14b G T 13: 65,223,500 (GRCm39) A178E probably damaging Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Myh6 A T 14: 55,185,596 (GRCm39) I1531N possibly damaging Het
Myo7a G T 7: 97,728,465 (GRCm39) A836D probably benign Het
Ncam1 A T 9: 49,481,198 (GRCm39) S19T probably benign Het
Nes T A 3: 87,885,735 (GRCm39) D1331E probably damaging Het
Nsd2 G A 5: 34,037,478 (GRCm39) R700Q possibly damaging Het
Nxt1 A T 2: 148,517,331 (GRCm39) Y24F possibly damaging Het
Or14c39 G A 7: 86,343,969 (GRCm39) V102I probably benign Het
Or52n4 T A 7: 104,293,835 (GRCm39) H248L probably damaging Het
Or5g24-ps1 A T 2: 85,464,144 (GRCm39) T124S probably benign Het
Or6f2 G A 7: 139,756,884 (GRCm39) V284I probably benign Het
Or8b40 G A 9: 38,027,550 (GRCm39) V158M possibly damaging Het
Or8g50 G A 9: 39,648,886 (GRCm39) M258I probably benign Het
Or9g20 G T 2: 85,630,302 (GRCm39) A104E possibly damaging Het
Pex5l T A 3: 33,006,683 (GRCm39) Q562L probably damaging Het
Plxna2 A G 1: 194,476,197 (GRCm39) Y1139C probably damaging Het
Prelp T C 1: 133,842,329 (GRCm39) N272S probably damaging Het
Rtkn2 A G 10: 67,841,416 (GRCm39) K188R probably damaging Het
Sbno2 G A 10: 79,898,591 (GRCm39) R624W probably damaging Het
Scn8a T A 15: 100,927,642 (GRCm39) C1374S probably damaging Het
Serpina1e T A 12: 103,917,361 (GRCm39) T103S probably benign Het
Sh3tc2 A G 18: 62,107,571 (GRCm39) E194G probably benign Het
Slc36a3 A T 11: 55,016,515 (GRCm39) I360N probably damaging Het
Sphk1 T C 11: 116,426,449 (GRCm39) V135A probably damaging Het
Tnfsf10 G A 3: 27,389,379 (GRCm39) D147N probably benign Het
Tnip2 C T 5: 34,671,177 (GRCm39) C22Y probably damaging Het
Trmt9b C T 8: 36,978,954 (GRCm39) R186* probably null Het
Trp73 T C 4: 154,152,088 (GRCm39) T187A probably benign Het
Tspan33 C T 6: 29,717,611 (GRCm39) Q276* probably null Het
Ttn C T 2: 76,542,871 (GRCm39) G33372R probably damaging Het
Vmn2r31 T A 7: 7,397,680 (GRCm39) T193S probably benign Het
Vps54 T C 11: 21,213,273 (GRCm39) F19L probably benign Het
Vwa8 A G 14: 79,296,179 (GRCm39) T856A probably damaging Het
Zscan4b A T 7: 10,634,840 (GRCm39) Y468N 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
R5090:Hmgcr UTSW 13 96,787,098 (GRCm39) missense probably benign
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
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'- CACAGAGTATTGTGGGTTCCAG -3'
(R):5'- TATTCTTGCTCTCCTGAACAGACAG -3'

Sequencing Primer
(F):5'- TTCCAGTCACTTACTTGGAGAG -3'
(R):5'- GACCCCTGTCTTTGAAAGGC -3'
Posted On 2021-11-19