Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01076:Ldlrap1'

51007

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ldlrap1

Ensembl Gene

ENSMUSG00000037295

Gene Name

low density lipoprotein receptor adaptor protein 1

Synonyms

Arh, Arh1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01076

Quality Score

Status

Chromosome

Chromosomal Location

134468865-134495335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134477293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 197 (D197G)

Ref Sequence

ENSEMBL: ENSMUSP00000036749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037828]

AlphaFold

Q8C142

Predicted Effect

probably benign
Transcript: ENSMUST00000037828
AA Change: D197G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000036749
Gene: ENSMUSG00000037295
AA Change: D197G

Domain	Start	End	E-Value	Type
PTB	42	177	4.92e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148479

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have increased levels of circulating LDL cholesterol and total plasmsa cholesterol and are physiologically similar to humans with autosomal recessive hypercholesterolemia (ARH). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 2 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Klk1b8	T	C	7: 43,604,279 (GRCm39)	F249S	probably damaging	Het
Nlrp4d	A	T	7: 10,106,010 (GRCm39)	D801E	unknown	Het

Other mutations in Ldlrap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02303:Ldlrap1	APN	4	134,484,706 (GRCm39)	missense	probably damaging	1.00
R0129:Ldlrap1	UTSW	4	134,484,733 (GRCm39)	missense	probably damaging	1.00
R3841:Ldlrap1	UTSW	4	134,477,747 (GRCm39)	missense	probably damaging	0.97
R4233:Ldlrap1	UTSW	4	134,484,649 (GRCm39)	splice site	probably null
R4884:Ldlrap1	UTSW	4	134,486,282 (GRCm39)	missense	probably benign
R5871:Ldlrap1	UTSW	4	134,486,240 (GRCm39)	missense	probably damaging	1.00
R6221:Ldlrap1	UTSW	4	134,484,671 (GRCm39)	missense	probably damaging	0.96
R6222:Ldlrap1	UTSW	4	134,484,671 (GRCm39)	missense	probably damaging	0.96
R6232:Ldlrap1	UTSW	4	134,486,345 (GRCm39)	missense	possibly damaging	0.82
R6939:Ldlrap1	UTSW	4	134,495,285 (GRCm39)	start gained	probably benign
R7472:Ldlrap1	UTSW	4	134,486,307 (GRCm39)	missense	possibly damaging	0.61
R8407:Ldlrap1	UTSW	4	134,484,736 (GRCm39)	missense	probably damaging	1.00
R8737:Ldlrap1	UTSW	4	134,495,147 (GRCm39)	missense	probably benign	0.05
R9450:Ldlrap1	UTSW	4	134,474,490 (GRCm39)	missense	probably damaging	1.00
R9764:Ldlrap1	UTSW	4	134,476,661 (GRCm39)	missense	probably benign	0.00
R9800:Ldlrap1	UTSW	4	134,477,303 (GRCm39)	missense	probably benign

Posted On

2013-06-21