Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01975:Ldlr'

182649

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 #

IGL01975

Quality Score

Status

Chromosome

Chromosomal Location

21723483-21749919 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21733697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 174 (V174I)

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: V174I

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: V174I

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: V174I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	T	5: 8,167,396	C133Y	probably damaging	Het
Akap3	G	T	6: 126,874,000	S827I	probably damaging	Het
Arhgap20	C	T	9: 51,849,797	Q947*	probably null	Het
Csf2rb2	A	G	15: 78,288,886	I258T	probably benign	Het
Egln2	T	C	7: 27,160,320	I323V	possibly damaging	Het
Erlin1	C	A	19: 44,036,931	G348V	probably damaging	Het
Fbxo38	C	T	18: 62,515,413	A685T	probably damaging	Het
Gm10272	G	A	10: 77,706,774	C50Y	probably damaging	Het
Gm11559	G	T	11: 99,864,856	Q110H	unknown	Het
Gpr75	T	C	11: 30,891,835	S247P	probably benign	Het
Grid1	A	T	14: 35,323,426	M409L	probably benign	Het
Herc3	A	C	6: 58,916,576	D941A	possibly damaging	Het
Ilf3	T	A	9: 21,392,379	S166T	probably benign	Het
Kcnu1	A	C	8: 25,934,497	E273D	probably benign	Het
Kdm8	A	G	7: 125,452,357	S41G	probably benign	Het
Lpar5	T	C	6: 125,081,787	L157P	probably damaging	Het
Mcrs1	A	G	15: 99,243,678		probably null	Het
Ndst3	T	A	3: 123,601,514	Y489F	possibly damaging	Het
Olfr822	A	G	10: 130,075,270	I287V	probably damaging	Het
Palmd	A	T	3: 116,923,634	S405T	probably benign	Het
Ptger1	T	C	8: 83,669,520		probably benign	Het
Rbp3	A	T	14: 33,958,645	K1068M	probably damaging	Het
Rimbp2	T	C	5: 128,797,648	D293G	probably benign	Het
Rnf20	T	A	4: 49,654,473	D843E	probably benign	Het
Rxfp1	A	G	3: 79,660,078	S322P	possibly damaging	Het
Slc22a8	T	A	19: 8,605,411	I152N	probably damaging	Het
Slc6a21	T	A	7: 45,287,851	D268E	probably benign	Het
Sstr1	A	G	12: 58,213,626	N345S	probably benign	Het
Stx17	T	C	4: 48,180,670	S172P	probably damaging	Het
Syne1	A	G	10: 5,068,908		probably benign	Het
Tpte	A	G	8: 22,349,337	T467A	probably damaging	Het
Trappc12	A	G	12: 28,692,492		probably null	Het
Trav13-2	A	T	14: 53,635,366	T100S	possibly damaging	Het
Trip12	A	G	1: 84,814,813		probably benign	Het
Wdr36	A	G	18: 32,852,488	H486R	probably damaging	Het
Zswim5	T	C	4: 116,965,692	I453T	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
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

2014-05-07