Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00501:Ldlr'

11744

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 #

IGL00501

Quality Score

Status

Chromosome

Chromosomal Location

21723483-21749919 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 21735361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149431 (fasta)

Gene Model

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

AlphaFold

P35951

Predicted Effect

probably null
Transcript: ENSMUST00000034713

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193

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 null
Transcript: ENSMUST00000034713

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193

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 null
Transcript: ENSMUST00000034713

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193

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 null
Transcript: ENSMUST00000213114

Predicted Effect

probably null
Transcript: ENSMUST00000213114

Predicted Effect

probably null
Transcript: ENSMUST00000213114

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900055J20Rik	G	A	18: 40,257,387		probably benign	Het
Acat1	T	C	9: 53,582,595	I409V	probably damaging	Het
Adck1	A	G	12: 88,368,422	N26S	probably benign	Het
Adgrf5	G	A	17: 43,449,915	A834T	possibly damaging	Het
Agpat5	T	C	8: 18,876,132		probably null	Het
Ano8	A	C	8: 71,479,149		probably null	Het
Baz2a	T	A	10: 128,114,625	M476K	probably benign	Het
Col16a1	A	G	4: 130,094,552		probably null	Het
Cyp3a13	A	T	5: 137,911,933	I113N	probably benign	Het
Dstn	A	G	2: 143,942,174	T146A	probably benign	Het
Eif2ak1	A	T	5: 143,889,470	M434L	probably damaging	Het
Fam126a	A	G	5: 23,985,845		probably benign	Het
Gba2	G	A	4: 43,568,477	A663V	probably damaging	Het
Gja10	T	C	4: 32,601,230	T385A	possibly damaging	Het
Gm42878	A	C	5: 121,533,343	I209R	probably damaging	Het
Grk1	T	A	8: 13,407,835	V245E	probably damaging	Het
H2afz	T	C	3: 137,865,596	V53A	probably damaging	Het
Klhdc8b	C	T	9: 108,448,906	R263H	probably benign	Het
Lcn8	T	C	2: 25,655,107		probably benign	Het
Lrrc40	T	C	3: 158,061,282	F458S	probably damaging	Het
Lypla1	T	A	1: 4,828,587	H35Q	probably damaging	Het
Mb21d1	G	A	9: 78,435,587	A311V	probably damaging	Het
Mink1	C	T	11: 70,603,812	T273I	probably damaging	Het
Neb	A	G	2: 52,295,344	F959L	probably benign	Het
Nedd4l	A	T	18: 65,208,092	D704V	probably damaging	Het
Peak1	C	T	9: 56,227,326	E1274K	probably damaging	Het
Prkcz	G	T	4: 155,294,401		probably benign	Het
Rabgap1	T	A	2: 37,469,546	N40K	probably damaging	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Spink5	A	G	18: 43,977,739	T126A	probably damaging	Het
Tanc2	T	C	11: 105,923,220	V1830A	probably benign	Het
Tmem104	T	C	11: 115,243,937	I433T	probably damaging	Het
Trim10	G	A	17: 36,877,047	R385K	probably benign	Het
Zbtb44	A	G	9: 31,054,310	I339V	possibly damaging	Het

Other mutations in Ldlr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06