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

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

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

96785475-96807444 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 96796651 bp (GRCm39)

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
Aadacl2fm1	A	G	3: 59,843,771 (GRCm39)	H155R	possibly damaging	Het
Abca13	G	T	11: 9,244,559 (GRCm39)	V2141L	probably benign	Het
Adam17	T	C	12: 21,390,459 (GRCm39)		probably benign	Het
Adam3	A	T	8: 25,185,331 (GRCm39)	C456S	probably damaging	Het
Aldh4a1	G	T	4: 139,369,882 (GRCm39)		probably benign	Het
Anapc4	A	G	5: 52,999,359 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,718,198 (GRCm39)	Q483L	probably damaging	Het
Ankle2	A	G	5: 110,389,925 (GRCm39)		probably benign	Het
Ankrd13b	T	A	11: 77,364,114 (GRCm39)	T150S	possibly damaging	Het
Apeh	A	G	9: 107,964,254 (GRCm39)	M524T	probably benign	Het
Arl14epl	T	A	18: 47,059,484 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,302,569 (GRCm39)	F964S	possibly damaging	Het
Atg2b	C	T	12: 105,583,412 (GRCm39)	V2050M	probably damaging	Het
Atp2b4	A	T	1: 133,659,956 (GRCm39)		probably benign	Het
Bbof1	T	A	12: 84,477,045 (GRCm39)	S512T	probably benign	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Car10	T	C	11: 93,381,408 (GRCm39)	Y100H	probably damaging	Het
Ccdc81	T	A	7: 89,542,504 (GRCm39)	E124V	probably damaging	Het
Cd84	A	G	1: 171,700,494 (GRCm39)	T204A	probably benign	Het
Celf2	A	G	2: 6,608,987 (GRCm39)	S178P	probably damaging	Het
Chat	G	A	14: 32,130,976 (GRCm39)	T555M	probably damaging	Het
Chd6	A	G	2: 160,834,111 (GRCm39)	F917S	probably damaging	Het
Chrna2	C	A	14: 66,386,553 (GRCm39)	T233N	probably damaging	Het
Cnpy2	T	C	10: 128,162,054 (GRCm39)	V109A	probably benign	Het
Col4a1	T	C	8: 11,258,333 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,982,529 (GRCm39)	V2713M	possibly damaging	Het
Cuedc1	G	A	11: 88,074,231 (GRCm39)	R255Q	probably damaging	Het
Cxcl15	A	T	5: 90,945,897 (GRCm39)		probably benign	Het
Dach1	A	T	14: 98,138,765 (GRCm39)	H559Q	possibly damaging	Het
Dele1	T	C	18: 38,387,124 (GRCm39)		probably null	Het
Dennd4c	C	T	4: 86,744,259 (GRCm39)	T1367M	probably damaging	Het
Depdc5	T	A	5: 33,102,372 (GRCm39)	Y365*	probably null	Het
Dicer1	T	C	12: 104,669,100 (GRCm39)	Y1194C	possibly damaging	Het
Dmxl1	C	G	18: 50,024,534 (GRCm39)	S1736*	probably null	Het
Dnah7a	C	T	1: 53,536,285 (GRCm39)	R2586K	probably benign	Het
Dnajb8	T	C	6: 88,199,467 (GRCm39)	M1T	probably null	Het
Dync2h1	G	A	9: 7,122,692 (GRCm39)	P2088L	probably benign	Het
Eftud2	T	G	11: 102,735,048 (GRCm39)	H617P	probably damaging	Het
Ephb1	A	G	9: 101,873,179 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,574,975 (GRCm39)	H155Q	probably benign	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Ganc	G	T	2: 120,278,882 (GRCm39)	E700*	probably null	Het
Gm10912	A	G	2: 103,897,290 (GRCm39)		probably benign	Het
Haus5	A	T	7: 30,358,492 (GRCm39)	I294N	probably damaging	Het
Hr	T	A	14: 70,799,352 (GRCm39)	C641*	probably null	Het
Itga10	A	G	3: 96,565,490 (GRCm39)	N1038S	probably damaging	Het
Itgb1bp1	T	G	12: 21,321,436 (GRCm39)	Y172S	probably damaging	Het
Kprp	T	C	3: 92,732,030 (GRCm39)	N340S	probably damaging	Het
Kremen1	A	G	11: 5,165,447 (GRCm39)	I41T	probably damaging	Het
Krt6b	A	G	15: 101,586,042 (GRCm39)		probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Ldhd	A	G	8: 112,356,309 (GRCm39)	Y86H	probably benign	Het
Lilra6	A	T	7: 3,915,784 (GRCm39)	I76N	possibly damaging	Het
Mak	T	C	13: 41,199,743 (GRCm39)	T299A	probably benign	Het
Med25	A	G	7: 44,534,502 (GRCm39)		probably null	Het
Mpg	A	T	11: 32,180,039 (GRCm39)	N189I	probably damaging	Het
Mroh8	A	G	2: 157,071,838 (GRCm39)	Y556H	probably damaging	Het
Myh8	T	A	11: 67,175,333 (GRCm39)	S294T	probably benign	Het
Myom1	T	A	17: 71,391,312 (GRCm39)	D842E	probably benign	Het
Myorg	A	G	4: 41,498,538 (GRCm39)	F364S	probably damaging	Het
Nat2	C	T	8: 67,953,982 (GRCm39)	Q31*	probably null	Het
Nf1	T	A	11: 79,329,595 (GRCm39)	M653K	probably benign	Het
Nhs	C	A	X: 160,620,355 (GRCm39)	R1467I	probably damaging	Het
Npr2	A	G	4: 43,632,801 (GRCm39)	E206G	probably benign	Het
Nsd3	G	A	8: 26,168,732 (GRCm39)	G629D	possibly damaging	Het
Nwd1	G	A	8: 73,408,633 (GRCm39)	C831Y	probably damaging	Het
Or52r1c	T	C	7: 102,735,058 (GRCm39)	I111T	probably damaging	Het
Or5t9	A	G	2: 86,659,950 (GRCm39)	I285V	probably benign	Het
P2ry14	A	G	3: 59,023,449 (GRCm39)	S4P	possibly damaging	Het
Parp4	A	G	14: 56,873,172 (GRCm39)		probably benign	Het
Pate14	A	T	9: 36,549,873 (GRCm39)		probably null	Het
Pclo	A	G	5: 14,728,299 (GRCm39)		probably benign	Het
Pclo	T	C	5: 14,729,412 (GRCm39)		probably benign	Het
Pcnt	A	T	10: 76,240,429 (GRCm39)	S1202T	possibly damaging	Het
Pfkfb4	A	G	9: 108,856,825 (GRCm39)	Y412C	probably damaging	Het
Pgm2	T	A	5: 64,267,898 (GRCm39)	V449D	probably damaging	Het
Poldip3	T	A	15: 83,022,436 (GRCm39)	D116V	probably damaging	Het
Pom121	G	T	5: 135,410,686 (GRCm39)	Q824K	unknown	Het
Prkdc	G	T	16: 15,649,146 (GRCm39)	G3707*	probably null	Het
Prr14l	T	C	5: 33,001,560 (GRCm39)		probably benign	Het
Ptbp2	T	G	3: 119,514,613 (GRCm39)	I405L	probably benign	Het
Rad21l	A	T	2: 151,490,989 (GRCm39)		probably benign	Het
Rbm6	G	A	9: 107,724,488 (GRCm39)	Q488*	probably null	Het
Rdh1	T	A	10: 127,600,652 (GRCm39)	M225K	probably benign	Het
Recql5	T	C	11: 115,819,209 (GRCm39)	D119G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo1	T	C	16: 72,810,013 (GRCm39)		probably null	Het
Samd12	G	A	15: 53,723,567 (GRCm39)	T42I	probably benign	Het
Scn10a	A	T	9: 119,442,766 (GRCm39)	M1494K	probably damaging	Het
Sec31a	G	A	5: 100,523,099 (GRCm39)	P864L	probably benign	Het
Senp2	T	C	16: 21,855,320 (GRCm39)	V344A	probably benign	Het
Serpina5	G	A	12: 104,069,621 (GRCm39)	D278N	probably benign	Het
Sh3tc1	A	T	5: 35,860,806 (GRCm39)	V1017D	probably damaging	Het
Sin3a	T	A	9: 57,004,179 (GRCm39)	Y310*	probably null	Het
Slc25a32	T	C	15: 38,960,940 (GRCm39)	T248A	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,117,206 (GRCm39)	V722M	probably damaging	Het
Slco1a4	A	G	6: 141,776,586 (GRCm39)		probably benign	Het
Smg6	T	A	11: 74,819,884 (GRCm39)	Y52N	probably damaging	Het
Sncb	T	G	13: 54,913,400 (GRCm39)	T33P	probably damaging	Het
Spef2	A	G	15: 9,584,070 (GRCm39)		probably null	Het
Spmip1	G	T	6: 29,478,169 (GRCm39)		probably benign	Het
Sugp1	A	G	8: 70,512,013 (GRCm39)	E203G	probably damaging	Het
Suv39h2	A	T	2: 3,473,616 (GRCm39)	C105S	probably damaging	Het
Tlr1	A	T	5: 65,083,963 (GRCm39)	F205I	probably damaging	Het
Tnip1	A	T	11: 54,808,699 (GRCm39)	M496K	probably damaging	Het
Tnxb	G	A	17: 34,937,219 (GRCm39)	E2889K	probably damaging	Het
Trim30b	T	A	7: 104,015,010 (GRCm39)	H126L	possibly damaging	Het
Trpm7	A	T	2: 126,668,638 (GRCm39)	Y759*	probably null	Het
Ttc17	A	G	2: 94,153,465 (GRCm39)	I1000T	possibly damaging	Het
Ttc27	A	T	17: 75,025,710 (GRCm39)	N61I	probably benign	Het
Uba6	T	C	5: 86,260,609 (GRCm39)	Y990C	probably damaging	Het
Vav3	A	G	3: 109,571,756 (GRCm39)		probably benign	Het
Vmn2r55	C	T	7: 12,404,945 (GRCm39)	A153T	possibly damaging	Het
Wars2	A	G	3: 99,123,865 (GRCm39)	D242G	probably damaging	Het
Xylt2	G	A	11: 94,560,762 (GRCm39)	Q259*	probably null	Het
Zfp27	G	A	7: 29,593,947 (GRCm39)	P673S	probably damaging	Het
Zgrf1	T	C	3: 127,378,309 (GRCm39)	I1023T	possibly damaging	Het

Other mutations in Hmgcr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGCCAAATTGGACGACCCTCAC -3'
(R):5'- GCTGTTCCTCAGGCCATAGATCATC -3'

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

Posted On

2013-06-11