Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02043:Ldlr'

184831

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ldlr

Ensembl Gene

ENSMUSG00000032193

Gene Name

low density lipoprotein receptor

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

21723483-21749919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21733499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 108 (T108A)

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: T108A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: T108A

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: T108A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217613

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	G	4: 107,894,868		probably benign	Het
Atp1b2	T	C	11: 69,605,276	T33A	probably benign	Het
Brd2	A	T	17: 34,112,616		probably benign	Het
Carmil1	T	C	13: 24,024,316		probably benign	Het
Cdh9	A	T	15: 16,856,232	D786V	probably damaging	Het
Cep128	A	C	12: 91,266,730		probably benign	Het
Cep85	T	C	4: 134,155,727	T284A	probably benign	Het
Chrna1	C	T	2: 73,568,106	E330K	probably benign	Het
Clec2l	T	C	6: 38,676,850	Y104H	probably damaging	Het
Clybl	G	T	14: 122,379,252	K226N	probably damaging	Het
Cmip	T	A	8: 117,445,328	D467E	probably benign	Het
Cpne3	A	T	4: 19,543,340		probably null	Het
Crisp4	A	G	1: 18,134,100	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,274,150	Y261H	probably damaging	Het
Cul5	C	A	9: 53,658,673	G86V	probably benign	Het
Depdc7	T	C	2: 104,730,281	T123A	probably benign	Het
Edem2	T	C	2: 155,705,741	T384A	probably damaging	Het
F8	C	T	X: 75,332,641	M377I	probably benign	Het
Fan1	T	A	7: 64,371,619		probably null	Het
Fez2	T	C	17: 78,381,622	D366G	probably damaging	Het
Gm4841	A	C	18: 60,270,965	S19A	probably benign	Het
Gm4862	T	A	3: 139,128,635		noncoding transcript	Het
Hk3	T	A	13: 55,015,095	Q44L	probably damaging	Het
Irgm1	C	A	11: 48,866,815	L56F	probably damaging	Het
Lgr4	T	A	2: 110,011,290	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,697,525	N3906S	probably null	Het
Lrrtm4	A	G	6: 80,021,862	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,207,534	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,262,422		probably null	Het
Mvp	A	T	7: 126,993,618	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,399,965	S711P	probably benign	Het
Myom3	A	G	4: 135,770,675	K189E	probably damaging	Het
Naip1	T	A	13: 100,426,796	K620N	probably benign	Het
Nlrp10	T	C	7: 108,925,502	E257G	probably damaging	Het
Nptn	T	G	9: 58,640,729	M139R	possibly damaging	Het
Nrk	T	G	X: 138,988,795	M1105R	possibly damaging	Het
Olfr357	T	A	2: 36,997,465	Y218*	probably null	Het
Olfr519	A	T	7: 108,893,839	C189*	probably null	Het
Olfr963	T	G	9: 39,669,078	V7G	probably damaging	Het
Pcdhb16	A	G	18: 37,479,195	T403A	probably benign	Het
Pcyt1b	A	G	X: 93,702,116	E50G	possibly damaging	Het
Pigg	C	T	5: 108,344,324	T892I	probably damaging	Het
Ppig	T	G	2: 69,735,983		probably null	Het
Prr12	A	G	7: 45,050,005		probably benign	Het
Slc5a5	G	T	8: 70,892,429	A78E	possibly damaging	Het
Slc7a2	T	G	8: 40,911,058	M436R	probably benign	Het
Sp7	T	A	15: 102,359,255	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134		probably benign	Het
Svep1	A	G	4: 58,068,556	S3077P	probably benign	Het
Tmem30a	A	T	9: 79,774,089		probably benign	Het
Tmem63a	C	T	1: 180,972,788	T714I	probably benign	Het
Trank1	T	C	9: 111,363,960	L535P	probably damaging	Het
Tuba8	A	C	6: 121,220,511	N44T	probably benign	Het
Wnk1	A	G	6: 119,949,078		probably benign	Het
Zfp654	A	T	16: 64,785,028	I396K	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
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
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

Posted On

2014-05-07