Mutagenetix > Incidental Mutation

Incidental Mutation 'R8223:Ldlr'

636831

Institutional Source

Beutler Lab

Gene Symbol

Ldlr

Ensembl Gene

ENSMUSG00000032193

Gene Name

low density lipoprotein receptor

Synonyms

MMRRC Submission

067641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21634872-21661215 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21658546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 833 (T833A)

Ref Sequence

ENSEMBL: ENSMUSP00000034713 (fasta)

Gene Model

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

AlphaFold

P35951

Predicted Effect

probably damaging
Transcript: ENSMUST00000034713
AA Change: T833A

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

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: T833A

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,668,692 (GRCm39)	W18R	probably damaging	Het
Alms1	T	A	6: 85,620,222 (GRCm39)	Y2417*	probably null	Het
Apold1	T	A	6: 134,961,148 (GRCm39)	S201T	probably benign	Het
Arhgap31	G	A	16: 38,424,084 (GRCm39)	P661S	probably benign	Het
Cacfd1	T	C	2: 26,908,396 (GRCm39)	V110A	possibly damaging	Het
Capn2	A	G	1: 182,310,099 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,579,335 (GRCm39)	E98G	possibly damaging	Het
Crxos	T	C	7: 15,631,394 (GRCm39)	Y31H	probably benign	Het
Cyp4f14	A	C	17: 33,130,627 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,839 (GRCm39)	I95T	probably benign	Het
Dars1	T	C	1: 128,299,961 (GRCm39)	E341G	probably benign	Het
Dchs1	G	T	7: 105,411,824 (GRCm39)	R1431S	possibly damaging	Het
Dop1a	T	A	9: 86,400,345 (GRCm39)	H1001Q	probably damaging	Het
Efemp1	T	C	11: 28,804,528 (GRCm39)	Y19H	probably benign	Het
Eml1	T	G	12: 108,502,569 (GRCm39)	F726V	probably benign	Het
Fdx1	A	T	9: 51,859,921 (GRCm39)	D136E	probably benign	Het
Ganab	A	T	19: 8,888,192 (GRCm39)	D446V	probably damaging	Het
Gusb	A	G	5: 130,018,953 (GRCm39)	V561A	probably benign	Het
Hcn1	A	T	13: 118,010,406 (GRCm39)	D328V	unknown	Het
Hdgfl1	A	G	13: 26,954,047 (GRCm39)	Y9H	probably damaging	Het
Hes3	T	A	4: 152,371,572 (GRCm39)	S101C	probably damaging	Het
Igkv2-112	T	C	6: 68,197,579 (GRCm39)	S84P	probably benign	Het
Ints9	C	T	14: 65,257,809 (GRCm39)	P330S	possibly damaging	Het
Kdm7a	A	T	6: 39,126,235 (GRCm39)	N583K	probably damaging	Het
Klhl10	C	T	11: 100,338,227 (GRCm39)	T322M	probably damaging	Het
Kmt2c	A	T	5: 25,529,216 (GRCm39)	V1545D	possibly damaging	Het
Laptm5	T	C	4: 130,653,511 (GRCm39)		probably null	Het
Llgl1	G	T	11: 60,593,648 (GRCm39)	L40F	possibly damaging	Het
Lrrc14	T	C	15: 76,598,756 (GRCm39)	L464S	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lysmd3	T	A	13: 81,817,386 (GRCm39)	L121H		Het
Map2	T	C	1: 66,464,649 (GRCm39)	S1680P	probably damaging	Het
Med12l	T	C	3: 58,993,784 (GRCm39)	V583A	possibly damaging	Het
Mfsd4b5	A	G	10: 39,846,246 (GRCm39)	Y445H	probably damaging	Het
Morf4l1	G	A	9: 89,979,475 (GRCm39)	P169S	probably benign	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Ola1	A	G	2: 72,929,694 (GRCm39)	L303P	probably damaging	Het
Or1j19	T	A	2: 36,677,409 (GRCm39)	Y291N		Het
Or1o2	T	C	17: 37,542,727 (GRCm39)	D178G	possibly damaging	Het
Or7e166	T	C	9: 19,624,705 (GRCm39)	I194T	probably benign	Het
Or9i2	G	T	19: 13,816,225 (GRCm39)	T104K	probably damaging	Het
Pdlim3	A	T	8: 46,353,562 (GRCm39)	H99L	possibly damaging	Het
Plagl2	G	T	2: 153,073,461 (GRCm39)	T480N	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprq	C	T	10: 107,535,499 (GRCm39)	R422Q	probably benign	Het
Rad18	T	A	6: 112,664,982 (GRCm39)	R51*	probably null	Het
Rpap3	T	A	15: 97,589,185 (GRCm39)	T250S	probably benign	Het
Serpinb11	T	C	1: 107,305,262 (GRCm39)	Y213H	probably benign	Het
Slc15a4	A	G	5: 127,686,080 (GRCm39)	F201L	possibly damaging	Het
Slc25a4	A	G	8: 46,663,896 (GRCm39)	S22P	probably damaging	Het
Slfn1	T	A	11: 83,012,245 (GRCm39)	N120K	probably damaging	Het
Smok3c	T	C	5: 138,063,655 (GRCm39)	S381P	probably benign	Het
Sry	T	A	Y: 2,663,204 (GRCm39)	Q152L	unknown	Het
Taar2	T	A	10: 23,817,248 (GRCm39)	W263R	probably damaging	Het
Thnsl1	T	A	2: 21,216,924 (GRCm39)	V226E	probably benign	Het
Tmeff2	T	C	1: 51,172,279 (GRCm39)		probably null	Het
Tox	A	G	4: 6,842,408 (GRCm39)	Y41H	probably damaging	Het
Trank1	T	A	9: 111,194,957 (GRCm39)	Y994N	probably damaging	Het
Trim9	C	T	12: 70,297,789 (GRCm39)	A713T	probably damaging	Het
Tub	T	A	7: 108,628,533 (GRCm39)	M393K	probably benign	Het
Ube4a	A	G	9: 44,871,333 (GRCm39)	L22P	possibly damaging	Het
Usp47	A	G	7: 111,703,583 (GRCm39)	K1165R	probably damaging	Het
Usp6nl	T	A	2: 6,435,327 (GRCm39)	I362K	probably damaging	Het
Vmn1r217	T	C	13: 23,298,369 (GRCm39)	I178V	probably benign	Het
Vmn1r45	T	A	6: 89,910,074 (GRCm39)	T299S	probably damaging	Het
Vmn2r5	A	T	3: 64,398,726 (GRCm39)	L751*	probably null	Het
Xkr8	G	A	4: 132,458,246 (GRCm39)	P144L	probably damaging	Het
Zfpm2	T	C	15: 40,616,355 (GRCm39)	I35T	probably benign	Het

Other mutations in Ldlr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Ldlr	APN	9	21,646,657 (GRCm39)	critical splice donor site	probably null
IGL01975:Ldlr	APN	9	21,644,993 (GRCm39)	missense	probably benign	0.05
IGL02043:Ldlr	APN	9	21,644,795 (GRCm39)	missense	probably benign	0.03
IGL02524:Ldlr	APN	9	21,644,977 (GRCm39)	missense	probably damaging	1.00
IGL03049:Ldlr	APN	9	21,657,115 (GRCm39)	missense	probably benign	0.00
IGL03113:Ldlr	APN	9	21,651,124 (GRCm39)	missense	possibly damaging	0.85
R0240:Ldlr	UTSW	9	21,649,295 (GRCm39)	splice site	probably benign
R0586:Ldlr	UTSW	9	21,651,040 (GRCm39)	missense	probably benign	0.00
R1398:Ldlr	UTSW	9	21,650,838 (GRCm39)	missense	probably benign	0.01
R1587:Ldlr	UTSW	9	21,649,209 (GRCm39)	missense	probably damaging	0.99
R2198:Ldlr	UTSW	9	21,643,698 (GRCm39)	missense	probably damaging	1.00
R3730:Ldlr	UTSW	9	21,643,097 (GRCm39)	missense	probably benign	0.09
R4422:Ldlr	UTSW	9	21,649,248 (GRCm39)	missense	probably damaging	1.00
R5044:Ldlr	UTSW	9	21,646,538 (GRCm39)	missense	probably benign	0.00
R5046:Ldlr	UTSW	9	21,657,203 (GRCm39)	critical splice donor site	probably null
R6186:Ldlr	UTSW	9	21,635,055 (GRCm39)	start gained	probably benign
R6195:Ldlr	UTSW	9	21,643,077 (GRCm39)	nonsense	probably null
R6523:Ldlr	UTSW	9	21,648,549 (GRCm39)	missense	probably damaging	1.00
R6682:Ldlr	UTSW	9	21,643,671 (GRCm39)	missense	probably benign
R7256:Ldlr	UTSW	9	21,657,040 (GRCm39)	missense	probably benign	0.01
R7384:Ldlr	UTSW	9	21,651,090 (GRCm39)	missense	probably benign	0.07
R7823:Ldlr	UTSW	9	21,653,602 (GRCm39)	critical splice donor site	probably null
R8065:Ldlr	UTSW	9	21,649,241 (GRCm39)	missense	probably damaging	1.00
R8732:Ldlr	UTSW	9	21,650,985 (GRCm39)	missense	probably benign	0.00
R8931:Ldlr	UTSW	9	21,643,108 (GRCm39)	missense	probably damaging	0.99
R8954:Ldlr	UTSW	9	21,650,828 (GRCm39)	missense	possibly damaging	0.87
R9315:Ldlr	UTSW	9	21,644,782 (GRCm39)	splice site	probably benign
R9489:Ldlr	UTSW	9	21,646,626 (GRCm39)	missense	probably damaging	1.00
R9517:Ldlr	UTSW	9	21,655,240 (GRCm39)	missense	possibly damaging	0.90
R9605:Ldlr	UTSW	9	21,646,626 (GRCm39)	missense	probably damaging	1.00
R9709:Ldlr	UTSW	9	21,657,135 (GRCm39)	missense	probably benign	0.00
X0024:Ldlr	UTSW	9	21,651,114 (GRCm39)	missense	probably damaging	1.00
Z1177:Ldlr	UTSW	9	21,651,126 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGGACATGCCGGTAGCTTC -3'
(R):5'- AGCTGGCTCTAGCATGTTC -3'

Sequencing Primer
(F):5'- ACATGCCGGTAGCTTCACTGG -3'
(R):5'- CCTAGGCAGGTTCTACCACTGAG -3'

Posted On

2020-07-13