Mutagenetix > Incidental Mutation

Incidental Mutation 'R6232:Ldlrap1'

504664

Institutional Source

Beutler Lab

Gene Symbol

Ldlrap1

Ensembl Gene

ENSMUSG00000037295

Gene Name

low density lipoprotein receptor adaptor protein 1

Synonyms

Arh, Arh1

MMRRC Submission

044360-MU

Accession Numbers

Essential gene?

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

Stock #

R6232 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

134468865-134495335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134486345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 38 (R38Q)

Ref Sequence

ENSEMBL: ENSMUSP00000036749 (fasta)

Gene Model

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

AlphaFold

Q8C142

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037828
AA Change: R38Q

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036749
Gene: ENSMUSG00000037295
AA Change: R38Q

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

94% (64/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,933 (GRCm39)	V198A	possibly damaging	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgra2	A	T	8: 27,609,193 (GRCm39)	M805L	probably benign	Het
Arhgap39	T	C	15: 76,620,712 (GRCm39)	S630G	probably damaging	Het
Bcl3	T	A	7: 19,546,409 (GRCm39)	N142I	probably damaging	Het
Cfap210	C	T	2: 69,602,398 (GRCm39)	E338K	possibly damaging	Het
Chuk	A	T	19: 44,085,431 (GRCm39)	D238E	probably benign	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Cyp2j8	A	T	4: 96,395,427 (GRCm39)	L66Q	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dst	T	A	1: 34,227,253 (GRCm39)	D1290E	probably damaging	Het
Dysf	T	C	6: 84,075,235 (GRCm39)	I583T	probably benign	Het
Eif1ad13	A	T	12: 87,762,351 (GRCm39)	R24*	probably null	Het
Fbxl2	T	A	9: 113,815,516 (GRCm39)	D249V	probably damaging	Het
Fbxo30	A	T	10: 11,165,602 (GRCm39)	Y108F	possibly damaging	Het
Fibin	G	T	2: 110,193,041 (GRCm39)	H34N	probably damaging	Het
Gabrr1	A	G	4: 33,161,632 (GRCm39)	I319V	probably benign	Het
Gfm1	G	T	3: 67,375,215 (GRCm39)	L559F	possibly damaging	Het
Gm5134	T	A	10: 75,821,859 (GRCm39)	L231Q	possibly damaging	Het
Grm5	A	G	7: 87,251,638 (GRCm39)		probably benign	Het
Hbs1l	T	A	10: 21,183,657 (GRCm39)		probably null	Het
Hsf5	C	G	11: 87,508,120 (GRCm39)	T8S	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Inpp4b	A	G	8: 82,678,813 (GRCm39)	Q281R	probably damaging	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Lepr	A	G	4: 101,671,588 (GRCm39)		probably null	Het
Map3k12	A	G	15: 102,412,081 (GRCm39)	S328P	probably damaging	Het
Mrpl2	T	C	17: 46,958,356 (GRCm39)	V46A	probably benign	Het
Muc16	A	T	9: 18,568,294 (GRCm39)	N1408K	unknown	Het
Myh7	T	A	14: 55,226,753 (GRCm39)	Q366L	probably benign	Het
Nbeal2	A	G	9: 110,467,802 (GRCm39)	V462A	probably damaging	Het
Nradd	G	T	9: 110,450,655 (GRCm39)	T174N	probably damaging	Het
Nup155	T	C	15: 8,138,963 (GRCm39)	S12P	probably benign	Het
Obscn	C	A	11: 58,943,337 (GRCm39)	E4832*	probably null	Het
Opn3	G	A	1: 175,490,669 (GRCm39)	R331W	probably damaging	Het
Or2ag15	A	T	7: 106,340,761 (GRCm39)	C127S	probably damaging	Het
Or2w3	T	A	11: 58,556,757 (GRCm39)	V124E	possibly damaging	Het
Or4a66	G	T	2: 88,531,161 (GRCm39)	H171N	probably benign	Het
Or52ae9	T	A	7: 103,389,661 (GRCm39)	H262L	probably damaging	Het
Or5b120	G	A	19: 13,480,427 (GRCm39)	C240Y	probably damaging	Het
Or6b2	T	C	1: 92,408,305 (GRCm39)	I13V	probably benign	Het
Phip	A	G	9: 82,785,234 (GRCm39)	V827A	probably benign	Het
Phldb1	G	A	9: 44,607,414 (GRCm39)	R1264W	probably damaging	Het
Pibf1	T	G	14: 99,424,014 (GRCm39)	I529S	probably benign	Het
Pkp1	T	A	1: 135,814,599 (GRCm39)	I241F	probably benign	Het
Pla2g4f	G	T	2: 120,132,702 (GRCm39)	D711E	possibly damaging	Het
Pold1	A	G	7: 44,190,266 (GRCm39)		probably null	Het
Pold2	T	C	11: 5,823,691 (GRCm39)	S287G	probably benign	Het
Prg4	T	C	1: 150,331,567 (GRCm39)		probably benign	Het
Prl8a1	T	C	13: 27,759,557 (GRCm39)	E160G	possibly damaging	Het
Rfc4	C	T	16: 22,932,840 (GRCm39)		probably benign	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph14	G	A	10: 74,797,520 (GRCm39)	R156W	probably benign	Het
Sec61a1	T	C	6: 88,482,150 (GRCm39)	Y457C	probably benign	Het
Sec63	T	A	10: 42,704,861 (GRCm39)		probably null	Het
Spen	T	C	4: 141,244,333 (GRCm39)	E234G	unknown	Het
Sphkap	T	A	1: 83,258,200 (GRCm39)	E181V	probably damaging	Het
Stau2	C	T	1: 16,445,035 (GRCm39)	A298T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 56,990,796 (GRCm39)	I661V	probably benign	Het
Thoc6	A	C	17: 23,889,295 (GRCm39)		probably null	Het
Trpv1	T	A	11: 73,141,636 (GRCm39)	M553K	possibly damaging	Het
Ttn	T	C	2: 76,641,579 (GRCm39)	I11760V	probably benign	Het
Vmn1r61	G	A	7: 5,613,850 (GRCm39)	H155Y	probably damaging	Het
Vmn2r41	A	G	7: 8,153,214 (GRCm39)		probably null	Het
Vmn2r74	A	G	7: 85,607,498 (GRCm39)	I75T	possibly damaging	Het
Wwp2	C	A	8: 108,232,977 (GRCm39)	T205K	probably benign	Het
Zfp1003	A	T	2: 177,546,195 (GRCm39)	T40S	probably benign	Het
Zfp747	C	T	7: 126,973,306 (GRCm39)	G288D	probably damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	Het
Zfp953	G	A	13: 67,491,161 (GRCm39)	L264F	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
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

Predicted Primers

PCR Primer
(F):5'- CCTAGGGACAAGGACAACTG -3'
(R):5'- TATGACAGGTTGTAGGTGCTCC -3'

Sequencing Primer
(F):5'- GGGGCAAGGTGAGCTGTC -3'
(R):5'- CTCCTAAGACTGAATGGGGTC -3'

Posted On

2018-02-28