Mutagenetix > Incidental Mutation

Incidental Mutation 'R9709:Ldlr'

729983

Institutional Source

Beutler Lab

Gene Symbol

Ldlr

Ensembl Gene

ENSMUSG00000032193

Gene Name

low density lipoprotein receptor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9709 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21723483-21749919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21745839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 751 (T751A)

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: T751A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: T751A

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: T699A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	T	C	2: 91,281,754	Q250R	probably benign	Het
1810062G17Rik	T	C	3: 36,476,207	S25P	unknown	Het
4921539E11Rik	A	G	4: 103,235,481	I268T	unknown	Het
4930507D05Rik	T	A	10: 62,449,802	C102S	unknown	Het
Abca14	T	A	7: 120,289,516	Y1228*	probably null	Het
Abca17	T	C	17: 24,298,960	I792V	probably benign	Het
Abca6	C	A	11: 110,211,763	L878F	probably benign	Het
Adk	C	A	14: 21,076,318	T4N	probably benign	Het
Atg2b	A	T	12: 105,644,881	F1264I	probably damaging	Het
Atl3	T	G	19: 7,530,556	S358A	probably benign	Het
Atp8a2	T	A	14: 60,033,738	Y248F	probably damaging	Het
Bcas3	T	C	11: 85,583,923	V785A	probably damaging	Het
Cckar	C	T	5: 53,702,859		probably null	Het
Cdc42se2	A	G	11: 54,723,591	F47L	probably benign	Het
Cfap58	T	C	19: 47,975,553	L540P	probably damaging	Het
Copg1	A	G	6: 87,891,975	E117G	probably benign	Het
Cul2	C	T	18: 3,431,560	T655M	probably damaging	Het
Ddi2	T	C	4: 141,685,118	Q161R	probably benign	Het
Dffb	T	C	4: 153,974,664	Y52C	probably damaging	Het
Dll1	T	C	17: 15,370,936	Q249R	probably benign	Het
Dnmt3a	T	A	12: 3,907,701	I894N	probably damaging	Het
Fam109b	C	G	15: 82,343,334	A18G	probably damaging	Het
Fam109b	G	T	15: 82,343,336	D19Y	probably damaging	Het
Fshr	G	A	17: 88,985,837	T471I	probably damaging	Het
Gabpb1	C	T	2: 126,658,568	V4I	probably benign	Het
Gbp9	T	C	5: 105,083,676	Q348R	probably damaging	Het
Gm14124	T	A	2: 150,268,385	C332S	possibly damaging	Het
Gm21149	G	A	5: 15,472,112	S248F	unknown	Het
Gm21885	G	A	11: 94,284,734	S65N	probably benign	Het
Gpr152	C	A	19: 4,142,641	H60Q	probably benign	Het
Hdac9	A	G	12: 34,312,603	S612P	probably benign	Het
Hhipl2	A	G	1: 183,418,816	D102G	possibly damaging	Het
Hspa9	A	G	18: 34,940,241	V530A	possibly damaging	Het
Igfbp7	T	C	5: 77,401,537	N173S	unknown	Het
Ighv1-75	A	G	12: 115,834,171	S44P	possibly damaging	Het
Iqgap3	C	A	3: 88,108,869	F986L	probably damaging	Het
Itgax	G	T	7: 128,136,328	G523W	probably damaging	Het
Itih3	A	G	14: 30,915,630		probably null	Het
Kcnb2	T	C	1: 15,710,299	I465T	probably benign	Het
Kmt2b	A	G	7: 30,579,803	V1478A	probably damaging	Het
Ky	A	T	9: 102,542,212	I473F	probably damaging	Het
Lbr	A	G	1: 181,838,469	V25A	probably damaging	Het
Lrrtm4	A	G	6: 80,809,173	E587G	probably damaging	Het
Lvrn	A	C	18: 46,873,780		probably null	Het
Mast2	A	T	4: 116,315,847	C594S	probably damaging	Het
Mast4	A	G	13: 102,774,203	V644A	probably damaging	Het
Mcm5	T	C	8: 75,115,976	Y293H	probably damaging	Het
Mthfd2	A	T	6: 83,306,683	V339E	possibly damaging	Het
Muc4	A	T	16: 32,770,270	I881F		Het
Myo7a	A	G	7: 98,094,329	S372P	possibly damaging	Het
Nbea	T	A	3: 55,786,458	K2180*	probably null	Het
Neb	T	C	2: 52,211,495	D4621G	probably damaging	Het
Nefh	C	T	11: 4,940,042	S859N	probably benign	Het
Nek2	T	A	1: 191,831,177	H384Q	possibly damaging	Het
Nfkb2	A	G	19: 46,310,343	E645G	probably benign	Het
Nin	G	T	12: 70,102,694	P47Q		Het
Nit1	C	A	1: 171,343,739	K178N	probably benign	Het
Nrap	C	A	19: 56,329,020	K1433N	probably damaging	Het
Nrap	T	C	19: 56,329,021	K1433R	probably benign	Het
Nup85	A	G	11: 115,566,637	Y55C	possibly damaging	Het
Olfr237-ps1	G	T	6: 43,153,535	V77F	possibly damaging	Het
Pde1b	A	G	15: 103,503,558	K29E	probably benign	Het
Pik3cg	A	T	12: 32,176,688	Y1067N	probably benign	Het
Pkd1l1	C	T	11: 8,849,016	G2249S	probably damaging	Het
Plppr4	T	A	3: 117,328,327	T201S	possibly damaging	Het
Polr1e	A	G	4: 45,018,678	T3A	probably benign	Het
Pou6f2	G	T	13: 18,239,804	Q129K	unknown	Het
Ppil4	T	A	10: 7,799,577	D163E	probably benign	Het
Pradc1	A	G	6: 85,447,970	F82L	probably benign	Het
Psd3	T	C	8: 67,741,762	K784R	probably null	Het
Ptgs1	C	A	2: 36,251,192	S550R	probably damaging	Het
Pxylp1	A	G	9: 96,828,977	L153P	probably damaging	Het
Rgs10	A	C	7: 128,374,005	F146C	probably damaging	Het
Rimbp2	G	A	5: 128,797,811	P239S	probably damaging	Het
Rp1	A	G	1: 4,042,032	Y1199H	unknown	Het
Rrp12	A	T	19: 41,868,792	M1181K	probably benign	Het
Rundc3b	T	C	5: 8,520,982	N279S	probably benign	Het
Sbf2	G	T	7: 110,428,307	P494Q	probably damaging	Het
Scnn1b	A	G	7: 121,910,470	T281A	probably benign	Het
Scube2	A	T	7: 109,831,764	N409K	probably damaging	Het
Serpina3m	A	C	12: 104,392,749	D340A	probably damaging	Het
Sez6	G	A	11: 77,974,295	E623K	possibly damaging	Het
Sgpp2	T	C	1: 78,390,563	I111T	probably benign	Het
Shprh	C	T	10: 11,162,830	T443I	possibly damaging	Het
Sis	T	A	3: 72,891,741	Y1726F	possibly damaging	Het
Slc17a9	T	C	2: 180,732,528	L129P	probably damaging	Het
Slc1a5	T	A	7: 16,793,804	F342I	probably benign	Het
Slc4a4	T	A	5: 89,040,346		probably null	Het
Slco3a1	T	C	7: 74,303,209	E534G	possibly damaging	Het
Smok2b	A	T	17: 13,235,165	I71F	possibly damaging	Het
Tmbim7	A	T	5: 3,661,809	H18L	probably damaging	Het
Tmem151a	A	T	19: 5,081,848	Y443*	probably null	Het
Tnks1bp1	T	G	2: 85,071,781	S1674A	probably benign	Het
Trappc11	T	A	8: 47,493,313	I1095F	probably damaging	Het
Trim11	A	G	11: 58,982,038	R183G	possibly damaging	Het
Trim29	A	G	9: 43,320,500	D348G	probably benign	Het
Ttc28	A	T	5: 111,285,771	S2224C	probably damaging	Het
Vps13d	C	T	4: 145,149,345	V1537M		Het
Zfp184	A	G	13: 21,959,495	D457G	possibly damaging	Het
Znrd1as	A	T	17: 36,964,357	R7S	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
R6186:Ldlr	UTSW	9	21723759	start gained	probably benign
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
X0024:Ldlr	UTSW	9	21739818	missense	probably damaging	1.00
Z1177:Ldlr	UTSW	9	21739830	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATGGAATTTGGTGGCCTGC -3'
(R):5'- ACATTTGCACAGAAACTGTACC -3'

Sequencing Primer
(F):5'- CGTTCCACCCAGAGCAGAG -3'
(R):5'- TGCCAAGCTTGCTAACCTGAG -3'

Posted On

2022-10-06