Mutagenetix > Incidental Mutation

Incidental Mutation 'R9764:Ldlrap1'

733133

Institutional Source

Beutler Lab

Gene Symbol

Ldlrap1

Ensembl Gene

ENSMUSG00000037295

Gene Name

low density lipoprotein receptor adaptor protein 1

Synonyms

Arh, Arh1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9764 (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 G at 134476661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 244 (N244T)

Ref Sequence

ENSEMBL: ENSMUSP00000036749 (fasta)

Gene Model

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

AlphaFold

Q8C142

Predicted Effect

probably benign
Transcript: ENSMUST00000037828
AA Change: N244T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036749
Gene: ENSMUSG00000037295
AA Change: N244T

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029F12Rik	T	C	13: 97,166,738 (GRCm39)	T93A	unknown	Het
Adgrg6	T	A	10: 14,302,515 (GRCm39)	H938L	probably benign	Het
Aff1	A	G	5: 103,997,365 (GRCm39)	Y1153C	probably damaging	Het
Akr1c20	T	A	13: 4,564,388 (GRCm39)	I42L	probably benign	Het
Atad2b	T	A	12: 5,082,064 (GRCm39)	N1324K	probably benign	Het
Aurka	T	A	2: 172,201,760 (GRCm39)	I270F	probably damaging	Het
Camk2g	A	T	14: 20,815,498 (GRCm39)	D189E	probably damaging	Het
Cc2d2b	A	G	19: 40,804,299 (GRCm39)	D942G	unknown	Het
Ccnd1	A	C	7: 144,491,770 (GRCm39)	S90A	probably benign	Het
Cfap77	G	T	2: 28,852,741 (GRCm39)	T177K	probably damaging	Het
Chd9	A	G	8: 91,721,220 (GRCm39)	N1003D	unknown	Het
Chga	C	G	12: 102,525,613 (GRCm39)	Q85E	possibly damaging	Het
Cnot1	T	C	8: 96,496,209 (GRCm39)	S322G	probably benign	Het
Cyp8b1	C	A	9: 121,744,294 (GRCm39)	S346I	probably benign	Het
Cysltr2	T	A	14: 73,266,906 (GRCm39)	H268L	probably damaging	Het
Dnah11	T	C	12: 117,884,704 (GRCm39)	T3783A	probably benign	Het
Dock3	C	T	9: 106,959,713 (GRCm39)	V109I	probably benign	Het
Dscc1	A	G	15: 54,953,674 (GRCm39)	C50R	probably benign	Het
Dtx3l	T	A	16: 35,753,277 (GRCm39)	D443V	probably damaging	Het
Ephb6	A	G	6: 41,592,911 (GRCm39)	H383R	probably benign	Het
Fdft1	A	G	14: 63,400,869 (GRCm39)	I88T	probably damaging	Het
Fmo3	C	A	1: 162,794,524 (GRCm39)	W182L	probably benign	Het
Folh1	T	A	7: 86,406,158 (GRCm39)	Q305L	probably benign	Het
Gale	C	T	4: 135,692,975 (GRCm39)	Q73*	probably null	Het
Gm9195	T	C	14: 72,699,885 (GRCm39)	M1154V	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gtsf1l	T	C	2: 162,929,052 (GRCm39)	T144A	probably benign	Het
Itpkc	T	C	7: 26,927,222 (GRCm39)	T231A	probably benign	Het
Kng2	C	A	16: 22,822,737 (GRCm39)	C205F	probably damaging	Het
Lingo2	A	G	4: 35,709,750 (GRCm39)	F77L	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,438 (GRCm39)	T256S	possibly damaging	Het
Lrit2	A	G	14: 36,790,936 (GRCm39)	D205G	probably damaging	Het
Lrrc34	T	C	3: 30,697,467 (GRCm39)	D88G	probably damaging	Het
Macf1	T	C	4: 123,366,136 (GRCm39)	E2875G	probably benign	Het
Med13	G	T	11: 86,177,345 (GRCm39)	Q1584K	possibly damaging	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Ndufv2	A	G	17: 66,394,503 (GRCm39)	Y121H	probably damaging	Het
Or4f52	T	A	2: 111,061,521 (GRCm39)	I206F	probably damaging	Het
Peg12	T	C	7: 62,113,297 (GRCm39)	T267A	unknown	Het
Pkig	A	G	2: 163,567,375 (GRCm39)		probably null	Het
Prkch	C	G	12: 73,747,078 (GRCm39)	T319S	probably benign	Het
Rhobtb1	T	C	10: 69,115,202 (GRCm39)	S534P	probably damaging	Het
Riok2	A	G	17: 17,607,814 (GRCm39)	N454S	probably benign	Het
Ryr2	T	A	13: 11,701,935 (GRCm39)	K2907N	possibly damaging	Het
Sdc3	C	T	4: 130,546,048 (GRCm39)	P136S	unknown	Het
Slc37a3	G	A	6: 39,322,844 (GRCm39)	L371F	probably damaging	Het
Slc3a1	A	T	17: 85,371,419 (GRCm39)	H657L	probably damaging	Het
Slc7a13	T	A	4: 19,819,033 (GRCm39)	Y78N	probably benign	Het
Slfn8	G	T	11: 82,907,838 (GRCm39)	A235E	probably damaging	Het
Snap91	T	A	9: 86,707,094 (GRCm39)	D232V	possibly damaging	Het
Stap2	C	A	17: 56,309,914 (GRCm39)	S79I	probably damaging	Het
Stra6l	T	C	4: 45,884,602 (GRCm39)	V544A	probably damaging	Het
Syn2	T	C	6: 115,251,219 (GRCm39)		probably null	Het
Tctn1	G	A	5: 122,388,527 (GRCm39)	P284S	possibly damaging	Het
Terb2	G	A	2: 122,018,475 (GRCm39)	M77I	probably benign	Het
Trim80	G	T	11: 115,338,757 (GRCm39)	R529L	possibly damaging	Het
Washc2	T	C	6: 116,186,048 (GRCm39)	L86P	possibly damaging	Het
Zfp74	A	T	7: 29,631,845 (GRCm39)	F133Y	probably benign	Het
Zfp987	T	A	4: 146,060,752 (GRCm39)	N61K	probably benign	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
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
R9800:Ldlrap1	UTSW	4	134,477,303 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGACATTGTTCAGCCACTCC -3'
(R):5'- ACCAGTATAGTGCAGGAGTACC -3'

Sequencing Primer
(F):5'- ATTGTTCAGCCACTCCACCCAG -3'
(R):5'- TACCAGAATGCTTGCAGAGGCC -3'

Posted On

2022-11-14