Mutagenetix > Incidental Mutation

Incidental Mutation 'R6221:Ldlrap1'

504008

Institutional Source

Beutler Lab

Gene Symbol

Ldlrap1

Ensembl Gene

ENSMUSG00000037295

Gene Name

low density lipoprotein receptor adaptor protein 1

Synonyms

Arh, Arh1

MMRRC Submission

044432-MU

Accession Numbers

Essential gene?

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

Stock #

R6221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134468865-134495335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134484671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 108 (E108K)

Ref Sequence

ENSEMBL: ENSMUSP00000036749 (fasta)

Gene Model

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

AlphaFold

Q8C142

Predicted Effect

probably damaging
Transcript: ENSMUST00000037828
AA Change: E108K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000036749
Gene: ENSMUSG00000037295
AA Change: E108K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,874 (GRCm39)	M108V	probably benign	Het
Adgrl1	C	T	8: 84,664,316 (GRCm39)	Q1236*	probably null	Het
Adprhl1	T	C	8: 13,275,634 (GRCm39)	I375V	probably benign	Het
Bsn	A	G	9: 107,982,765 (GRCm39)	S3663P	unknown	Het
Cfap44	A	T	16: 44,257,549 (GRCm39)	Q1028L	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Col1a2	T	C	6: 4,539,490 (GRCm39)	S1253P	unknown	Het
Dkk3	A	G	7: 111,720,853 (GRCm39)	Y158H	probably damaging	Het
Dmxl1	A	G	18: 50,004,799 (GRCm39)	Y949C	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,152 (GRCm39)	Y164C	probably benign	Het
Evx1	T	A	6: 52,293,768 (GRCm39)	V312E	probably damaging	Het
Fam240b	T	C	13: 64,629,591 (GRCm39)	N75S	probably benign	Het
Fat2	A	G	11: 55,186,898 (GRCm39)		probably null	Het
Fbn1	G	T	2: 125,162,841 (GRCm39)	D2148E	probably benign	Het
Fzd4	A	G	7: 89,054,100 (GRCm39)	H69R	probably damaging	Het
Fzd6	T	C	15: 38,894,239 (GRCm39)	V135A	probably benign	Het
Gimap8	T	C	6: 48,635,876 (GRCm39)	L547S	probably damaging	Het
Gnrhr	G	A	5: 86,333,262 (GRCm39)	Q203*	probably null	Het
Gpaa1	T	G	15: 76,218,032 (GRCm39)	V341G	probably benign	Het
Grik3	T	A	4: 125,598,916 (GRCm39)	L828Q	probably damaging	Het
Heatr5b	T	C	17: 79,074,383 (GRCm39)	N1568S	probably benign	Het
Hpf1	T	A	8: 61,346,808 (GRCm39)	V41E	probably damaging	Het
Hsd3b1	A	T	3: 98,760,472 (GRCm39)	M173K	probably benign	Het
Hsd3b6	A	G	3: 98,713,849 (GRCm39)	I150T	probably benign	Het
Ica1	C	G	6: 8,644,181 (GRCm39)	L369F	possibly damaging	Het
Inf2	T	G	12: 112,570,179 (GRCm39)	S293A	possibly damaging	Het
Klra10	T	C	6: 130,246,235 (GRCm39)	T247A	probably benign	Het
Kpna1	G	A	16: 35,841,058 (GRCm39)	G91D	probably benign	Het
Ltb4r2	C	T	14: 55,999,540 (GRCm39)	R54W	probably damaging	Het
Mki67	A	G	7: 135,299,643 (GRCm39)	F1797S	probably benign	Het
Mlh3	C	A	12: 85,315,192 (GRCm39)	Q331H	possibly damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Odad1	T	C	7: 45,596,903 (GRCm39)	L410P	probably damaging	Het
Or5b124	T	A	19: 13,610,830 (GRCm39)	Y118*	probably null	Het
Oxct2b	T	C	4: 123,010,601 (GRCm39)	Y174H	probably damaging	Het
Pakap	C	T	4: 57,855,618 (GRCm39)	Q559*	probably null	Het
Pclo	G	A	5: 14,725,327 (GRCm39)	R1395Q	unknown	Het
Ppara	A	G	15: 85,661,881 (GRCm39)	I41V	probably benign	Het
Ppip5k2	A	T	1: 97,657,753 (GRCm39)	I766K	probably damaging	Het
Ppm1j	A	G	3: 104,693,092 (GRCm39)	N483S	possibly damaging	Het
Prex2	T	C	1: 11,336,236 (GRCm39)	I1478T	probably benign	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rsl1d1	A	G	16: 11,019,175 (GRCm39)	V121A	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Slc15a1	T	C	14: 121,702,316 (GRCm39)	Q610R	probably null	Het
Slc1a6	A	G	10: 78,635,910 (GRCm39)	E325G	probably damaging	Het
Slc7a13	A	G	4: 19,839,305 (GRCm39)	I303V	probably benign	Het
Smc3	T	A	19: 53,630,362 (GRCm39)	V1123E	probably damaging	Het
Smco1	G	A	16: 32,092,023 (GRCm39)	V34I	probably benign	Het
Spag1	A	G	15: 36,197,949 (GRCm39)	R304G	probably benign	Het
Spata31f1e	A	T	4: 42,793,153 (GRCm39)	N326K	probably benign	Het
Spta1	A	G	1: 174,009,342 (GRCm39)	D293G	probably damaging	Het
Sspo	C	A	6: 48,440,639 (GRCm39)	P1751Q	probably damaging	Het
Syt14	A	T	1: 192,612,908 (GRCm39)	Y631N	probably damaging	Het
Taar3	A	G	10: 23,825,970 (GRCm39)	N172S	possibly damaging	Het
Tank	A	G	2: 61,480,427 (GRCm39)	E321G	probably damaging	Het
Tcstv5	T	G	13: 120,411,534 (GRCm39)	H24P	probably damaging	Het
Thbs1	C	A	2: 117,950,478 (GRCm39)	L704M	probably damaging	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Togaram1	A	T	12: 65,013,320 (GRCm39)	E190D	probably damaging	Het
Traf1	A	C	2: 34,838,313 (GRCm39)	V175G	probably benign	Het
Trib3	A	T	2: 152,180,528 (GRCm39)	C222S	probably damaging	Het
Tsen34	T	A	7: 3,698,543 (GRCm39)	I229N	probably damaging	Het
Ttc28	A	G	5: 111,419,114 (GRCm39)	D1370G	probably benign	Het
Ugt1a5	G	A	1: 88,093,964 (GRCm39)	R64H	probably benign	Het
Vdac2	G	A	14: 21,895,246 (GRCm39)	G265R	possibly damaging	Het
Vdac3	A	G	8: 23,078,759 (GRCm39)	V17A	possibly damaging	Het
Yif1b	C	T	7: 28,945,207 (GRCm39)	T220I	possibly damaging	Het
Zfp846	T	G	9: 20,504,591 (GRCm39)	H150Q	possibly damaging	Het
Zwilch	A	T	9: 64,068,665 (GRCm39)	H181Q	probably 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
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

Predicted Primers

PCR Primer
(F):5'- GCATCAGCTGGTTAGGGAACAG -3'
(R):5'- AAGGTGCCAGTTGAGTGTC -3'

Sequencing Primer
(F):5'- GGGTTTCTCAGTGGCACAACATAAC -3'
(R):5'- GCCAGTTGAGTGTCCTCCTG -3'

Posted On

2018-02-28