Mutagenetix > Incidental Mutation

Incidental Mutation 'R0511:Hmgcr'

46955

Institutional Source

Beutler Lab

Gene Symbol

Hmgcr

Ensembl Gene

ENSMUSG00000021670

Gene Name

3-hydroxy-3-methylglutaryl-Coenzyme A reductase

Synonyms

HMG-CoAR, 3-hydroxy-3-methylglutaryl-CoA reductase, Red

MMRRC Submission

038705-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0511 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96648967-96670936 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 96660143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022176] [ENSMUST00000168855] [ENSMUST00000169196] [ENSMUST00000169202] [ENSMUST00000170287]

AlphaFold

Q01237

Predicted Effect

probably damaging
Transcript: ENSMUST00000022176
AA Change: P213Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022176
Gene: ENSMUSG00000021670
AA Change: P213Q

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000163201

Predicted Effect

probably benign
Transcript: ENSMUST00000168855

Predicted Effect

probably benign
Transcript: ENSMUST00000169196

SMART Domains

Protein: ENSMUSP00000132749
Gene: ENSMUSG00000021670

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000169202

SMART Domains

Protein: ENSMUSP00000132155
Gene: ENSMUSG00000021670

Domain	Start	End	E-Value	Type
Pfam:HMG-CoA_red	35	219	8.8e-76	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000170287
AA Change: P213Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128939
Gene: ENSMUSG00000021670
AA Change: P213Q

Domain	Start	End	E-Value	Type
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

0.4667

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (116/116)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,254,071		probably null	Het
A630095E13Rik	A	T	9: 36,638,577		probably null	Het
Abca13	G	T	11: 9,294,559	V2141L	probably benign	Het
Adam17	T	C	12: 21,340,458		probably benign	Het
Adam3	A	T	8: 24,695,315	C456S	probably damaging	Het
AI464131	A	G	4: 41,498,538	F364S	probably damaging	Het
Aldh4a1	G	T	4: 139,642,571		probably benign	Het
Anapc4	A	G	5: 52,842,017		probably benign	Het
Ank3	A	T	10: 69,882,368	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,242,059		probably benign	Het
Ankrd13b	T	A	11: 77,473,288	T150S	possibly damaging	Het
Apeh	A	G	9: 108,087,055	M524T	probably benign	Het
Arl14epl	T	A	18: 46,926,417		probably null	Het
Atg2a	T	C	19: 6,252,539	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,617,153	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,732,218		probably benign	Het
Bbof1	T	A	12: 84,430,271	S512T	probably benign	Het
BC055324	T	C	1: 163,971,843		probably null	Het
C130079G13Rik	A	G	3: 59,936,350	H155R	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Car10	T	C	11: 93,490,582	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,893,296	E124V	probably damaging	Het
Cd84	A	G	1: 171,872,927	T204A	probably benign	Het
Celf2	A	G	2: 6,604,176	S178P	probably damaging	Het
Chat	G	A	14: 32,409,019	T555M	probably damaging	Het
Chd6	A	G	2: 160,992,191	F917S	probably damaging	Het
Chrna2	C	A	14: 66,149,104	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,326,185	V109A	probably benign	Het
Col4a1	T	C	8: 11,208,333		probably null	Het
Csmd1	C	T	8: 15,932,529	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,183,405	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,798,038		probably benign	Het
Dach1	A	T	14: 97,901,329	H559Q	possibly damaging	Het
Dennd4c	C	T	4: 86,826,022	T1367M	probably damaging	Het
Depdc5	T	A	5: 32,945,028	Y365*	probably null	Het
Dicer1	T	C	12: 104,702,841	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 49,891,467	S1736*	probably null	Het
Dnah7a	C	T	1: 53,497,126	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,222,485	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692	P2088L	probably benign	Het
Eftud2	T	G	11: 102,844,222	H617P	probably damaging	Het
Ephb1	A	G	9: 101,995,980		probably benign	Het
Fam184a	G	T	10: 53,698,879	H155Q	probably benign	Het
Ganc	G	T	2: 120,448,401	E700*	probably null	Het
Gm10912	A	G	2: 104,066,945		probably benign	Het
Gm9047	G	T	6: 29,478,170		probably benign	Het
Haus5	A	T	7: 30,659,067	I294N	probably damaging	Het
Hr	T	A	14: 70,561,912	C641*	probably null	Het
Itga10	A	G	3: 96,658,174	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,271,435	Y172S	probably damaging	Het
Kprp	T	C	3: 92,824,723	N340S	probably damaging	Het
Kremen1	A	G	11: 5,215,447	I41T	probably damaging	Het
Krt6b	A	G	15: 101,677,607		probably benign	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Ldhd	A	G	8: 111,629,677	Y86H	probably benign	Het
Lilra6	A	T	7: 3,912,785	I76N	possibly damaging	Het
Mak	T	C	13: 41,046,267	T299A	probably benign	Het
Med25	A	G	7: 44,885,078		probably null	Het
Mpg	A	T	11: 32,230,039	N189I	probably damaging	Het
Mroh8	A	G	2: 157,229,918	Y556H	probably damaging	Het
Myh8	T	A	11: 67,284,507	S294T	probably benign	Het
Myom1	T	A	17: 71,084,317	D842E	probably benign	Het
Nat2	C	T	8: 67,501,330	Q31*	probably null	Het
Nf1	T	A	11: 79,438,769	M653K	probably benign	Het
Nhs	C	A	X: 161,837,359	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801	E206G	probably benign	Het
Nsd3	G	A	8: 25,678,716	G629D	possibly damaging	Het
Nwd1	G	A	8: 72,682,005	C831Y	probably damaging	Het
Olfr1094	A	G	2: 86,829,606	I285V	probably benign	Het
Olfr584	T	C	7: 103,085,851	I111T	probably damaging	Het
P2ry14	A	G	3: 59,116,028	S4P	possibly damaging	Het
Parp4	A	G	14: 56,635,715		probably benign	Het
Pclo	A	G	5: 14,678,285		probably benign	Het
Pclo	T	C	5: 14,679,398		probably benign	Het
Pcnt	A	T	10: 76,404,595	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 109,027,757	Y412C	probably damaging	Het
Pgm1	T	A	5: 64,110,555	V449D	probably damaging	Het
Poldip3	T	A	15: 83,138,235	D116V	probably damaging	Het
Pom121	G	T	5: 135,381,832	Q824K	unknown	Het
Prkdc	G	T	16: 15,831,282	G3707*	probably null	Het
Prr14l	T	C	5: 32,844,216		probably benign	Het
Ptbp2	T	G	3: 119,720,964	I405L	probably benign	Het
Rad21l	A	T	2: 151,649,069		probably benign	Het
Rbm6	G	A	9: 107,847,289	Q488*	probably null	Het
Rdh1	T	A	10: 127,764,783	M225K	probably benign	Het
Recql5	T	C	11: 115,928,383	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Robo1	T	C	16: 73,013,125		probably null	Het
Samd12	G	A	15: 53,860,171	T42I	probably benign	Het
Scn10a	A	T	9: 119,613,700	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,375,240	P864L	probably benign	Het
Senp2	T	C	16: 22,036,570	V344A	probably benign	Het
Serpina5	G	A	12: 104,103,362	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,703,462	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,096,895	Y310*	probably null	Het
Slc25a32	T	C	15: 39,097,545	T248A	probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	G	A	2: 62,286,862	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,830,860		probably benign	Het
Smg6	T	A	11: 74,929,058	Y52N	probably damaging	Het
Sncb	T	G	13: 54,765,587	T33P	probably damaging	Het
Spef2	A	G	15: 9,583,984		probably null	Het
Sugp1	A	G	8: 70,059,363	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,472,579	C105S	probably damaging	Het
Tlr1	A	T	5: 64,926,620	F205I	probably damaging	Het
Tnip1	A	T	11: 54,917,873	M496K	probably damaging	Het
Tnxb	G	A	17: 34,718,245	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,365,803	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,826,718	Y759*	probably null	Het
Ttc17	A	G	2: 94,323,120	I1000T	possibly damaging	Het
Ttc27	A	T	17: 74,718,715	N61I	probably benign	Het
Uba6	T	C	5: 86,112,750	Y990C	probably damaging	Het
Vav3	A	G	3: 109,664,440		probably benign	Het
Vmn2r55	C	T	7: 12,671,018	A153T	possibly damaging	Het
Wars2	A	G	3: 99,216,549	D242G	probably damaging	Het
Xylt2	G	A	11: 94,669,936	Q259*	probably null	Het
Zfp27	G	A	7: 29,894,522	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,584,660	I1023T	possibly damaging	Het

Other mutations in Hmgcr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Hmgcr	APN	13	96659278	missense	probably benign
IGL01369:Hmgcr	APN	13	96666522	missense	probably null	1.00
IGL01575:Hmgcr	APN	13	96656595	missense	possibly damaging	0.56
IGL02183:Hmgcr	APN	13	96663127	missense	probably damaging	1.00
IGL02515:Hmgcr	APN	13	96666512	splice site	probably benign
IGL02716:Hmgcr	APN	13	96660012	critical splice acceptor site	probably null
IGL03278:Hmgcr	APN	13	96656762	splice site	probably benign
IGL03367:Hmgcr	APN	13	96665853	missense	probably damaging	0.98
PIT4131001:Hmgcr	UTSW	13	96659054	missense	probably damaging	1.00
PIT4504001:Hmgcr	UTSW	13	96663097	missense	possibly damaging	0.95
R0003:Hmgcr	UTSW	13	96652145	missense	probably damaging	1.00
R0017:Hmgcr	UTSW	13	96652089	splice site	probably benign
R0017:Hmgcr	UTSW	13	96652089	splice site	probably benign
R0217:Hmgcr	UTSW	13	96651980	missense	probably damaging	1.00
R0707:Hmgcr	UTSW	13	96650643	unclassified	probably benign
R1301:Hmgcr	UTSW	13	96659020	missense	probably damaging	0.97
R2203:Hmgcr	UTSW	13	96656633	missense	probably damaging	1.00
R2204:Hmgcr	UTSW	13	96656633	missense	probably damaging	1.00
R2433:Hmgcr	UTSW	13	96665885	missense	probably damaging	1.00
R2938:Hmgcr	UTSW	13	96663068	missense	probably damaging	0.99
R3159:Hmgcr	UTSW	13	96665847	missense	probably damaging	1.00
R3737:Hmgcr	UTSW	13	96651063	missense	probably damaging	1.00
R3752:Hmgcr	UTSW	13	96663116	missense	probably damaging	1.00
R3837:Hmgcr	UTSW	13	96659089	missense	probably benign	0.19
R3838:Hmgcr	UTSW	13	96659089	missense	probably benign	0.19
R3839:Hmgcr	UTSW	13	96659089	missense	probably benign	0.19
R4034:Hmgcr	UTSW	13	96651063	missense	probably damaging	1.00
R4035:Hmgcr	UTSW	13	96651063	missense	probably damaging	1.00
R4210:Hmgcr	UTSW	13	96660221	missense	probably damaging	1.00
R4783:Hmgcr	UTSW	13	96666193	missense	probably damaging	1.00
R4820:Hmgcr	UTSW	13	96660192	missense	probably damaging	1.00
R5090:Hmgcr	UTSW	13	96650590	missense	probably benign
R5113:Hmgcr	UTSW	13	96656732	missense	probably benign	0.00
R5209:Hmgcr	UTSW	13	96666512	splice site	probably benign
R5354:Hmgcr	UTSW	13	96654896	missense	probably benign	0.26
R5571:Hmgcr	UTSW	13	96666663	missense	probably benign	0.11
R5804:Hmgcr	UTSW	13	96666187	missense	probably damaging	0.98
R5886:Hmgcr	UTSW	13	96660183	missense	probably damaging	1.00
R6340:Hmgcr	UTSW	13	96665858	missense	probably damaging	1.00
R6638:Hmgcr	UTSW	13	96658982	missense	probably benign
R6699:Hmgcr	UTSW	13	96660209	missense	probably damaging	1.00
R7024:Hmgcr	UTSW	13	96658910	missense	probably benign	0.10
R7061:Hmgcr	UTSW	13	96666148	missense	possibly damaging	0.64
R7284:Hmgcr	UTSW	13	96652665	missense	probably damaging	1.00
R7286:Hmgcr	UTSW	13	96666597	missense	probably damaging	1.00
R7705:Hmgcr	UTSW	13	96656723	missense	probably benign	0.01
R7709:Hmgcr	UTSW	13	96663097	missense	possibly damaging	0.95
R9034:Hmgcr	UTSW	13	96659377	missense	probably damaging	1.00
R9158:Hmgcr	UTSW	13	96655662	nonsense	probably null
R9253:Hmgcr	UTSW	13	96660137	missense	probably damaging	1.00
R9474:Hmgcr	UTSW	13	96659895	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCAAATTGGACGACCCTCAC -3'
(R):5'- GCTGTTCCTCAGGCCATAGATCATC -3'

Sequencing Primer
(F):5'- CCTCACGGCTTTCACGAG -3'
(R):5'- CAGGCCATAGATCATCTTTGTGTTG -3'

Posted On

2013-06-11