Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Ldlr'

564274

Institutional Source

Beutler Lab

Gene Symbol

Ldlr

Ensembl Gene

ENSMUSG00000032193

Gene Name

low density lipoprotein receptor

Synonyms

MMRRC Submission

045317-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21634872-21661215 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21657040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 719 (V719E)

Ref Sequence

ENSEMBL: ENSMUSP00000034713 (fasta)

Gene Model

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

AlphaFold

P35951

Predicted Effect

probably benign
Transcript: ENSMUST00000034713
AA Change: V719E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: V719E

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

probably benign
Transcript: ENSMUST00000213114
AA Change: V667E

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,659,923 (GRCm39)	Y790H	probably damaging	Het
Bend3	A	C	10: 43,369,667 (GRCm39)	S7R	probably benign	Het
Ccdc106	A	G	7: 5,063,325 (GRCm39)	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,431,997 (GRCm39)	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,288,851 (GRCm39)	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,490 (GRCm39)	S1406P	probably benign	Het
Cep290	A	G	10: 100,382,360 (GRCm39)	T208A	probably damaging	Het
Cep85l	A	C	10: 53,172,351 (GRCm39)	C569W	probably damaging	Het
Ces5a	G	A	8: 94,226,154 (GRCm39)	T527I	probably benign	Het
Clca3a2	T	A	3: 144,796,608 (GRCm39)	I200F	probably damaging	Het
Cmas	G	A	6: 142,716,312 (GRCm39)	D251N	probably damaging	Het
Ctcfl	G	T	2: 172,960,268 (GRCm39)	A105E	probably benign	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
Dctn6	A	T	8: 34,557,962 (GRCm39)	I170N	probably damaging	Het
Dnah2	T	C	11: 69,321,920 (GRCm39)	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,724,988 (GRCm39)	V465I	possibly damaging	Het
Dzip1	T	C	14: 119,123,058 (GRCm39)	T646A	probably benign	Het
Etv4	T	A	11: 101,675,151 (GRCm39)		probably null	Het
Exoc3l2	T	C	7: 19,218,628 (GRCm39)	V549A	unknown	Het
Ficd	G	T	5: 113,876,880 (GRCm39)	A352S	probably damaging	Het
Fry	T	G	5: 150,390,251 (GRCm39)	I179S		Het
Galntl5	A	G	5: 25,400,298 (GRCm39)	H109R	probably benign	Het
Garem1	C	A	18: 21,281,811 (GRCm39)	G182W	probably damaging	Het
Gm5916	A	T	9: 36,032,285 (GRCm39)	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,615,709 (GRCm39)	F271I	probably benign	Het
Hivep2	G	T	10: 14,004,845 (GRCm39)	S481I	probably benign	Het
Homez	T	A	14: 55,094,877 (GRCm39)	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,210,722 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,678,957 (GRCm39)	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,617,212 (GRCm39)		probably null	Het
Kif5b	A	G	18: 6,225,340 (GRCm39)	V230A	probably damaging	Het
Lsm7	G	A	10: 80,689,565 (GRCm39)	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,710,988 (GRCm39)	D90E	probably benign	Het
Mmrn1	A	G	6: 60,953,098 (GRCm39)	K460E	probably damaging	Het
Myh10	A	C	11: 68,681,515 (GRCm39)	N1061H	probably damaging	Het
Nepn	A	G	10: 52,277,089 (GRCm39)	Q275R	probably benign	Het
Noc3l	A	T	19: 38,800,800 (GRCm39)	D227E	probably benign	Het
Nploc4	G	T	11: 120,319,376 (GRCm39)	S61R	probably benign	Het
Nr4a2	T	C	2: 57,002,381 (GRCm39)	Y24C	probably damaging	Het
Nup160	T	A	2: 90,553,699 (GRCm39)	I1143N	probably damaging	Het
Or14a256	G	T	7: 86,264,873 (GRCm39)	H327N	probably benign	Het
Or4a15	A	T	2: 89,192,838 (GRCm39)	Y312N	probably benign	Het
Or8c17	T	A	9: 38,180,004 (GRCm39)	M57K	probably damaging	Het
Or8h7	A	G	2: 86,720,956 (GRCm39)	S188P	probably damaging	Het
Papola	T	A	12: 105,775,604 (GRCm39)	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap1	A	T	1: 54,532,366 (GRCm39)		probably null	Het
Pitrm1	A	G	13: 6,606,633 (GRCm39)	H229R	probably damaging	Het
Plcl1	A	G	1: 55,737,377 (GRCm39)	Q906R	probably benign	Het
Ppfia3	T	C	7: 44,991,167 (GRCm39)	N1018S	probably benign	Het
Pramel24	T	A	4: 143,452,849 (GRCm39)	D93E	probably benign	Het
Prkd1	A	G	12: 50,435,125 (GRCm39)	V534A	possibly damaging	Het
Pygm	A	T	19: 6,435,926 (GRCm39)	I126F	probably benign	Het
Rag1	T	C	2: 101,472,415 (GRCm39)	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 92,032,637 (GRCm39)	Q560*	probably null	Het
Rbp3	A	T	14: 33,684,540 (GRCm39)	I1190F	possibly damaging	Het
Reln	T	C	5: 22,183,921 (GRCm39)	K1693E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsph3a	A	G	17: 8,165,002 (GRCm39)	T121A	probably benign	Het
Rufy3	A	G	5: 88,762,806 (GRCm39)	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,502,591 (GRCm39)	Q3548*	probably null	Het
Sardh	A	T	2: 27,108,824 (GRCm39)	V637D	probably benign	Het
Spata16	T	C	3: 26,722,016 (GRCm39)	V179A	probably benign	Het
Spopfm2	T	C	3: 94,083,667 (GRCm39)	E48G	probably benign	Het
Tbc1d30	G	A	10: 121,124,870 (GRCm39)	T319I	probably damaging	Het
Tlr2	T	A	3: 83,744,913 (GRCm39)	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,109,237 (GRCm39)		probably null	Het
Vmn1r113	T	A	7: 20,521,370 (GRCm39)	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,434,036 (GRCm39)	Y210S	probably damaging	Het
Zbbx	A	T	3: 74,947,205 (GRCm39)	H670Q	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
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
R8223:Ldlr	UTSW	9	21,658,546 (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'- GGGATGACAAGTTTGAGGTCCC -3'
(R):5'- CTTATGAAATGAAGGCTGGGC -3'

Sequencing Primer
(F):5'- AGTTTGAGGTCCCCCTGGAATAATC -3'
(R):5'- CCTGGCCGGTACCTTGGTG -3'

Posted On

2019-06-26