Mutagenetix > Incidental Mutation

Incidental Mutation 'R7384:Ldlr'

572952

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 #

R7384 (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 C at 21739794 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 503 (T503P)

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: T503P

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: T503P

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: T503P

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,463,468		probably null	Het
Abca13	C	A	11: 9,333,257	S3226R	probably damaging	Het
Abhd14b	A	G	9: 106,450,141	I41V	probably benign	Het
Acot2	T	C	12: 83,992,667	S317P	probably benign	Het
Acp7	T	C	7: 28,615,088	E284G	possibly damaging	Het
Adamts5	A	G	16: 85,899,826	F148L	probably benign	Het
Adcy10	C	T	1: 165,576,608	P1611S	unknown	Het
Agr2	A	G	12: 35,995,924	T57A	probably damaging	Het
Ankar	T	G	1: 72,658,465	I1060L	probably benign	Het
Ano10	T	A	9: 122,176,343	D77V	unknown	Het
Apc2	G	A	10: 80,312,624	V1171I	probably damaging	Het
Apoa4	G	A	9: 46,241,474	R19Q	not run	Het
Arhgap33	A	G	7: 30,527,271	S504P	probably damaging	Het
Atg2a	T	C	19: 6,261,677	V1862A	probably damaging	Het
Atp7b	T	C	8: 22,022,315	S511G	probably benign	Het
Bcl10	A	G	3: 145,933,040	K146E	possibly damaging	Het
Bsg	A	T	10: 79,709,797	D181V	probably damaging	Het
Btg4	T	C	9: 51,119,113	V171A	probably benign	Het
Cdh8	A	C	8: 99,230,506	N188K	probably benign	Het
Cflar	C	A	1: 58,752,576	T346K		Het
Chrna5	T	C	9: 55,004,833	S306P	probably damaging	Het
Cldn20	G	A	17: 3,532,611	G20R	probably damaging	Het
Clns1a	G	A	7: 97,696,781	A18T	probably benign	Het
D130043K22Rik	A	G	13: 24,882,605	Y795C	probably damaging	Het
Dync1li2	A	C	8: 104,442,543	S38A	probably benign	Het
Dysf	A	G	6: 84,114,105	E1043G	probably benign	Het
Eral1	A	G	11: 78,074,101	I422T	possibly damaging	Het
Exoc3	G	A	13: 74,172,156	P729S	probably benign	Het
Eya1	T	A	1: 14,229,512	Y339F	probably damaging	Het
Faah	G	T	4: 116,005,167	N206K	probably damaging	Het
Fem1a	A	G	17: 56,257,537	E210G	probably benign	Het
Gcc2	T	A	10: 58,269,964	S341T	probably damaging	Het
Gfpt2	A	T	11: 49,810,990	I123F	possibly damaging	Het
Gm21188	T	A	13: 120,035,261	Q24L	possibly damaging	Het
Gm3047	T	A	14: 4,558,271	N164K	probably damaging	Het
Gm3327	A	G	14: 44,124,877	K78E		Het
Gm438	T	A	4: 144,780,621	I65F	possibly damaging	Het
Herpud1	A	G	8: 94,389,377	I57V	probably damaging	Het
Homer1	A	T	13: 93,393,039	R285S	possibly damaging	Het
Hps6	T	A	19: 46,004,017	V131E	possibly damaging	Het
Il1r1	T	A	1: 40,282,261	I11N	possibly damaging	Het
Jakmip1	T	A	5: 37,173,207	D410E	possibly damaging	Het
Kif3a	T	A	11: 53,578,854	F97L	probably damaging	Het
Klf11	C	T	12: 24,653,743	T76I	probably damaging	Het
Mapk3	G	C	7: 126,764,291	R279P		Het
Mb21d2	A	T	16: 28,828,912	D103E	probably benign	Het
Mfsd7a	A	T	5: 108,446,060	I61K	probably damaging	Het
Msh4	T	A	3: 153,888,748	M333L	probably benign	Het
Mycbp2	A	G	14: 103,276,393	I836T	probably damaging	Het
Myh1	A	T	11: 67,224,375	E1912V	possibly damaging	Het
Ncapd2	A	G	6: 125,173,401	V887A	probably benign	Het
Nlrp4a	G	A	7: 26,449,538	R190Q	not run	Het
Nop53	T	C	7: 15,939,495	T344A	probably damaging	Het
Olfr235	T	C	19: 12,269,076	V282A	possibly damaging	Het
Olfr457	A	T	6: 42,471,323	L285Q	possibly damaging	Het
Olfr871	A	G	9: 20,212,745	Y132C	probably damaging	Het
Pcyox1l	A	C	18: 61,698,390	V266G	probably damaging	Het
Pde5a	A	G	3: 122,825,000	Y654C	probably damaging	Het
Polq	T	C	16: 37,029,418	S345P	probably damaging	Het
Prdm1	A	T	10: 44,458,507	C8S	probably benign	Het
Psg17	T	A	7: 18,818,660	Q230L	possibly damaging	Het
Rab11fip5	A	T	6: 85,348,330	S332T	possibly damaging	Het
Rac2	T	A	15: 78,561,931	K186*	probably null	Het
S100pbp	T	C	4: 129,181,909	N208D	probably benign	Het
Scaf11	A	T	15: 96,420,387	V432D	possibly damaging	Het
Slc34a1	G	T	13: 55,402,934	C225F	probably benign	Het
Slc35e2	A	T	4: 155,610,632	M152L	probably benign	Het
Slc9a4	T	A	1: 40,612,251	I563K	probably benign	Het
Sppl3	T	G	5: 115,061,641		probably null	Het
Stam	T	C	2: 14,134,430	F301L	probably benign	Het
Supt16	G	A	14: 52,181,162	R213W	probably damaging	Het
Tbc1d8	A	T	1: 39,394,098	D334E	probably benign	Het
Tmem87a	C	T	2: 120,371,523		probably null	Het
Tnk1	T	C	11: 69,851,621	Y661C	probably damaging	Het
Tnpo2	G	A	8: 85,050,119	R485H	probably damaging	Het
Tnxb	A	G	17: 34,718,518	D2947G	probably damaging	Het
Traf4	A	G	11: 78,160,791		probably null	Het
Trappc10	A	T	10: 78,209,384	M490K	possibly damaging	Het
Trav12-1	A	G	14: 53,538,536	T49A	probably benign	Het
Ttc37	A	C	13: 76,150,735	S1187R	possibly damaging	Het
Twistnb	G	T	12: 33,433,632	G128W	probably damaging	Het
Ubap1l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	9: 65,371,750		probably benign	Het
Unc79	G	T	12: 103,171,578	V2485L	probably benign	Het
Ush2a	T	C	1: 188,400,163	S861P	probably damaging	Het
Vcam1	A	G	3: 116,117,228	V507A	possibly damaging	Het
Vmn1r218	A	G	13: 23,136,725	M81V	probably benign	Het
Zfp652	G	T	11: 95,753,004	V343L	probably damaging	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
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

PCR Primer
(F):5'- AAGATCTACAGGTGAGCTGC -3'
(R):5'- TGAGCTCAGGACCATCTCAC -3'

Sequencing Primer
(F):5'- GACCCCAGGCTCTATTGTGAC -3'
(R):5'- AGGACCATCTCACATTCTCCTGAG -3'

Posted On

2019-09-13