Mutagenetix > Incidental Mutation

Incidental Mutation 'R8407:Ldlrap1'

652461

Institutional Source

Beutler Lab

Gene Symbol

Ldlrap1

Ensembl Gene

ENSMUSG00000037295

Gene Name

low density lipoprotein receptor adaptor protein 1

Synonyms

Arh, Arh1

MMRRC Submission

067814-MU

Accession Numbers

Essential gene?

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

Stock #

R8407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134468865-134495335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134484736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 86 (K86R)

Ref Sequence

ENSEMBL: ENSMUSP00000036749 (fasta)

Gene Model

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

AlphaFold

Q8C142

Predicted Effect

probably damaging
Transcript: ENSMUST00000037828
AA Change: K86R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036749
Gene: ENSMUSG00000037295
AA Change: K86R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	T	C	11: 100,384,897 (GRCm39)	I629V	possibly damaging	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Arhgef12	C	T	9: 42,937,475 (GRCm39)		probably null	Het
BC048562	T	A	9: 108,315,631 (GRCm39)	S12R	possibly damaging	Het
Calhm2	G	A	19: 47,098,755 (GRCm39)	Q310*	probably null	Het
Celsr3	A	G	9: 108,706,256 (GRCm39)	E913G	probably damaging	Het
Cep68	T	C	11: 20,190,446 (GRCm39)	S189G	possibly damaging	Het
Cilp	C	A	9: 65,181,898 (GRCm39)	P336T	probably damaging	Het
Cnot4	A	G	6: 35,033,154 (GRCm39)	S288P	probably benign	Het
Cst13	T	C	2: 148,665,124 (GRCm39)	S40P	probably damaging	Het
Cyp4f37	A	T	17: 32,853,158 (GRCm39)	D374V	probably damaging	Het
Ddit3	A	G	10: 127,131,318 (GRCm39)	T37A	probably benign	Het
Dnah2	T	C	11: 69,350,104 (GRCm39)	N2343S	probably benign	Het
Emp3	G	A	7: 45,569,445 (GRCm39)	P32L	probably damaging	Het
Esyt1	G	T	10: 128,347,796 (GRCm39)	L965M	probably damaging	Het
Fbxw28	T	A	9: 109,155,269 (GRCm39)	I406L	probably benign	Het
Fgf10	A	G	13: 118,851,938 (GRCm39)	T7A	possibly damaging	Het
Frs3	A	T	17: 48,009,552 (GRCm39)	D11V	probably damaging	Het
Glmn	A	G	5: 107,718,057 (GRCm39)	S287P	probably benign	Het
Glyctk	C	T	9: 106,033,141 (GRCm39)	A291T	probably benign	Het
H2bc12	G	T	13: 22,220,217 (GRCm39)	G54V	probably damaging	Het
Ibtk	A	T	9: 85,603,119 (GRCm39)	F629I	possibly damaging	Het
Kcnh8	C	A	17: 53,212,101 (GRCm39)	A633E	probably damaging	Het
Kif24	T	C	4: 41,394,488 (GRCm39)	N929S	probably benign	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lmod1	A	G	1: 135,291,763 (GRCm39)	K206R	probably benign	Het
Lmod1	C	A	1: 135,292,734 (GRCm39)	P530T	possibly damaging	Het
Lnp1	A	T	16: 56,748,251 (GRCm39)	S14T	probably benign	Het
Map3k6	T	A	4: 132,974,904 (GRCm39)	Y646N	possibly damaging	Het
Mapk14	G	A	17: 28,963,983 (GRCm39)	V290I	probably benign	Het
Mrpl22	C	A	11: 58,066,156 (GRCm39)	Y83*	probably null	Het
Myh6	T	C	14: 55,201,388 (GRCm39)	N104D	probably benign	Het
Nalcn	T	A	14: 123,554,683 (GRCm39)	M903L	probably damaging	Het
Nfat5	C	T	8: 108,094,047 (GRCm39)	Q763*	probably null	Het
Or5w19	A	C	2: 87,698,437 (GRCm39)	Y34S	probably damaging	Het
Plin1	T	C	7: 79,373,051 (GRCm39)	D306G	probably benign	Het
Ppp1r12a	T	A	10: 108,076,042 (GRCm39)		probably null	Het
Prelid1	T	A	13: 55,470,672 (GRCm39)	H33Q	probably damaging	Het
Prkcz	C	T	4: 155,352,673 (GRCm39)	A485T	probably damaging	Het
Ptch1	T	C	13: 63,662,057 (GRCm39)	E1169G	probably null	Het
Rps19	C	A	7: 24,588,517 (GRCm39)	T181K	unknown	Het
Skic2	G	A	17: 35,060,103 (GRCm39)	A889V	probably benign	Het
Slc22a3	A	C	17: 12,640,368 (GRCm39)	C538G	probably benign	Het
Slc2a10	T	A	2: 165,356,787 (GRCm39)	F149Y	possibly damaging	Het
Smarcal1	A	G	1: 72,640,554 (GRCm39)	I516M	probably benign	Het
Smarcc2	T	A	10: 128,318,190 (GRCm39)	W601R	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Srp68	A	G	11: 116,143,589 (GRCm39)	S369P	probably benign	Het
Tex2	C	T	11: 106,459,221 (GRCm39)	E70K	probably damaging	Het
Ticam2	A	G	18: 46,693,590 (GRCm39)	S166P	probably damaging	Het
Trpv5	A	G	6: 41,652,272 (GRCm39)	S138P	probably benign	Het
Ttll8	C	T	15: 88,798,741 (GRCm39)	V665I	probably benign	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Zbtb4	T	C	11: 69,669,101 (GRCm39)	V608A	probably benign	Het
Zfp957	A	G	14: 79,451,352 (GRCm39)	V149A	possibly damaging	Het

Other mutations in Ldlrap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01076:Ldlrap1	APN	4	134,477,293 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCGTGACTCAGAAAGAAAG -3'
(R):5'- TTGGTGTGTCTTAAACTTGCACC -3'

Sequencing Primer
(F):5'- CGTGACTCAGAAAGAAAGTTTTATGG -3'
(R):5'- TCTCTACAAGCCAGTCTGATGGAG -3'

Posted On

2020-10-20