Mutagenetix > Incidental Mutation

Incidental Mutation 'R6186:Ldlr'

502181

Institutional Source

Beutler Lab

Gene Symbol

Ldlr

Ensembl Gene

ENSMUSG00000032193

Gene Name

low density lipoprotein receptor

Synonyms

MMRRC Submission

044326-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6186 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21723483-21749919 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 21723759 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034713] [ENSMUST00000213114]

AlphaFold

P35951

Predicted Effect

probably benign
Transcript: ENSMUST00000034713

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
LDLa	26	65	1.89e-14	SMART
LDLa	67	106	9.81e-13	SMART
EGF_like	108	144	6.81e1	SMART
LDLa	108	145	3.77e-14	SMART
LDLa	147	186	6.67e-15	SMART
LDLa	197	234	1.16e-14	SMART
LDLa	236	273	3.24e-13	SMART
LDLa	276	316	1e-9	SMART
EGF	318	354	3.2e-4	SMART
EGF_CA	355	394	4.09e-11	SMART
LY	420	462	1.11e-3	SMART
LY	466	508	4.7e-11	SMART
LY	509	552	5.23e-9	SMART
LY	553	595	7.86e-13	SMART
LY	596	639	3.25e-5	SMART
EGF	666	713	7.64e-2	SMART
low complexity region	799	811	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181400

Predicted Effect

probably benign
Transcript: ENSMUST00000213114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217111

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA792892	T	A	5: 94,383,976	Y240N	probably benign	Het
Adgb	A	G	10: 10,422,758	S409P	probably damaging	Het
Adgrg5	T	C	8: 94,934,024	V93A	possibly damaging	Het
Akap8l	C	T	17: 32,333,044	V420I	probably benign	Het
Ankrd36	T	G	11: 5,643,812	D472E	possibly damaging	Het
Apbb1	T	C	7: 105,567,726	E250G	probably damaging	Het
AW549877	C	A	15: 3,986,369	D238Y	possibly damaging	Het
Cacna2d4	G	A	6: 119,281,689	E579K	possibly damaging	Het
Capn7	G	T	14: 31,370,918	G780W	probably damaging	Het
Celsr1	T	C	15: 85,921,193	E2419G	possibly damaging	Het
Cep164	A	T	9: 45,794,109	S363R	probably damaging	Het
Cfap221	T	A	1: 119,934,610	I581F	probably damaging	Het
Cog2	C	A	8: 124,546,686	T588N	probably damaging	Het
Cyp2a5	T	C	7: 26,843,388		probably benign	Het
Cyp2j6	G	C	4: 96,536,086	L145V	probably damaging	Het
Evx1	T	C	6: 52,314,218		probably null	Het
Fam186a	T	C	15: 99,947,325	H346R	unknown	Het
Fam205c	T	C	4: 42,872,000	K125R	possibly damaging	Het
Fam53b	T	A	7: 132,715,716	D399V	possibly damaging	Het
Fcho2	T	A	13: 98,815,083	N9I	probably benign	Het
Fjx1	T	C	2: 102,450,807	E261G	probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Fkbpl	T	C	17: 34,646,179	F307S	probably benign	Het
Fn1	A	G	1: 71,637,290	I594T	probably damaging	Het
Inpp4b	T	A	8: 82,046,234	V719E	probably damaging	Het
Macf1	A	G	4: 123,484,175	V1419A	probably damaging	Het
Mapkap1	A	G	2: 34,563,114	T340A	possibly damaging	Het
Mark2	A	G	19: 7,283,202	V403A	probably benign	Het
Mast3	T	C	8: 70,785,483	T521A	probably damaging	Het
Mkl1	T	C	15: 81,016,652	K546R	probably damaging	Het
Myo1h	C	T	5: 114,319,803	T125I	possibly damaging	Het
Ndufa8	A	G	2: 36,039,740	V118A	probably benign	Het
Nphs1	A	G	7: 30,465,634	T551A	probably damaging	Het
Olfr267	T	C	4: 58,784,948	Y258C	probably damaging	Het
Olfr726	T	A	14: 50,084,525	D52V	probably damaging	Het
Pcm1	T	C	8: 41,293,793	L1343P	probably benign	Het
Pdcd1	T	A	1: 94,040,121	R202*	probably null	Het
Prkab2	A	G	3: 97,663,991		probably null	Het
Ptdss2	T	C	7: 141,154,949		probably benign	Het
Rap1b	G	T	10: 117,820,552	F78L	probably damaging	Het
Rbl2	C	T	8: 91,106,730	T711I	probably damaging	Het
Rhobtb2	A	G	14: 69,798,244	I126T	probably damaging	Het
Rnf123	A	C	9: 108,069,958	S210A	possibly damaging	Het
Shank1	T	A	7: 44,352,566	F1228L	probably benign	Het
Sumo1	C	A	1: 59,644,570	V38L	probably benign	Het
Sycp2	C	T	2: 178,383,560	S363N	probably damaging	Het
Tbx2	G	T	11: 85,837,846	E352*	probably null	Het
Timm44	T	C	8: 4,266,824	N270D	probably damaging	Het
Topaz1	A	T	9: 122,748,826	Q267L	probably benign	Het
Trp63	T	C	16: 25,876,733		probably benign	Het
Ushbp1	T	A	8: 71,391,003	T264S	possibly damaging	Het
Vav3	A	G	3: 109,516,067	Y334C	probably damaging	Het
Wdr36	G	C	18: 32,852,901	A553P	probably benign	Het
Zfhx2	A	T	14: 55,063,160	I2378K	probably damaging	Het
Zfp276	T	A	8: 123,255,933	Y145*	probably null	Het
Zfp458	T	C	13: 67,257,637	E246G	probably damaging	Het
Zfp526	A	G	7: 25,226,136	T607A	probably benign	Het

Other mutations in Ldlr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Ldlr	APN	9	21735361	critical splice donor site	probably null
IGL01975:Ldlr	APN	9	21733697	missense	probably benign	0.05
IGL02043:Ldlr	APN	9	21733499	missense	probably benign	0.03
IGL02524:Ldlr	APN	9	21733681	missense	probably damaging	1.00
IGL03049:Ldlr	APN	9	21745819	missense	probably benign	0.00
IGL03113:Ldlr	APN	9	21739828	missense	possibly damaging	0.85
R0240:Ldlr	UTSW	9	21737999	splice site	probably benign
R0586:Ldlr	UTSW	9	21739744	missense	probably benign	0.00
R1398:Ldlr	UTSW	9	21739542	missense	probably benign	0.01
R1587:Ldlr	UTSW	9	21737913	missense	probably damaging	0.99
R2198:Ldlr	UTSW	9	21732402	missense	probably damaging	1.00
R3730:Ldlr	UTSW	9	21731801	missense	probably benign	0.09
R4422:Ldlr	UTSW	9	21737952	missense	probably damaging	1.00
R5044:Ldlr	UTSW	9	21735242	missense	probably benign	0.00
R5046:Ldlr	UTSW	9	21745907	critical splice donor site	probably null
R6195:Ldlr	UTSW	9	21731781	nonsense	probably null
R6523:Ldlr	UTSW	9	21737253	missense	probably damaging	1.00
R6682:Ldlr	UTSW	9	21732375	missense	probably benign
R7256:Ldlr	UTSW	9	21745744	missense	probably benign	0.01
R7384:Ldlr	UTSW	9	21739794	missense	probably benign	0.07
R7823:Ldlr	UTSW	9	21742306	critical splice donor site	probably null
R8065:Ldlr	UTSW	9	21737945	missense	probably damaging	1.00
R8223:Ldlr	UTSW	9	21747250	missense	probably damaging	1.00
R8732:Ldlr	UTSW	9	21739689	missense	probably benign	0.00
R8931:Ldlr	UTSW	9	21731812	missense	probably damaging	0.99
R8954:Ldlr	UTSW	9	21739532	missense	possibly damaging	0.87
R9315:Ldlr	UTSW	9	21733486	splice site	probably benign
R9489:Ldlr	UTSW	9	21735330	missense	probably damaging	1.00
R9517:Ldlr	UTSW	9	21743944	missense	possibly damaging	0.90
R9605:Ldlr	UTSW	9	21735330	missense	probably damaging	1.00
R9709:Ldlr	UTSW	9	21745839	missense	probably benign	0.00
X0024:Ldlr	UTSW	9	21739818	missense	probably damaging	1.00
Z1177:Ldlr	UTSW	9	21739830	missense	probably benign	0.00

Predicted Primers

Posted On

2018-02-27