Mutagenetix > Incidental Mutation

Incidental Mutation 'R6195:Ldlr'

502861

Institutional Source

Beutler Lab

Gene Symbol

Ldlr

Ensembl Gene

ENSMUSG00000032193

Gene Name

low density lipoprotein receptor

Synonyms

MMRRC Submission

044335-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21634872-21661215 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21643077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 34 (C34*)

Ref Sequence

ENSEMBL: ENSMUSP00000149431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034713] [ENSMUST00000213114]

AlphaFold

P35951

Predicted Effect

probably null
Transcript: ENSMUST00000034713
AA Change: C34*

SMART Domains

Protein: ENSMUSP00000034713
Gene: ENSMUSG00000032193
AA Change: C34*

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
LDLa	26	65	1.89e-14	SMART
LDLa	67	106	9.81e-13	SMART
EGF_like	108	144	6.81e1	SMART
LDLa	108	145	3.77e-14	SMART
LDLa	147	186	6.67e-15	SMART
LDLa	197	234	1.16e-14	SMART
LDLa	236	273	3.24e-13	SMART
LDLa	276	316	1e-9	SMART
EGF	318	354	3.2e-4	SMART
EGF_CA	355	394	4.09e-11	SMART
LY	420	462	1.11e-3	SMART
LY	466	508	4.7e-11	SMART
LY	509	552	5.23e-9	SMART
LY	553	595	7.86e-13	SMART
LY	596	639	3.25e-5	SMART
EGF	666	713	7.64e-2	SMART
low complexity region	799	811	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000213114
AA Change: C34*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217613

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygous targeted mutants exhibit 2X higher total plasma cholesterol and 7-9X higher IDL and LDL levels on a normal diet compared to controls. On a high cholesterol diet, mutant effects dramatically increase and mice develop xanthomatosis and atherosclerosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,142 (GRCm39)		probably null	Het
Aadacl2fm2	G	A	3: 59,659,623 (GRCm39)	V359I	probably damaging	Het
Abtb1	T	C	6: 88,817,718 (GRCm39)	E50G	probably benign	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Aoc1	C	A	6: 48,885,611 (GRCm39)	N705K	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef7	C	T	8: 11,872,017 (GRCm39)	T701I	probably damaging	Het
Atg10	G	T	13: 91,356,555 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,068,926 (GRCm39)	I116M	possibly damaging	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Creb3	A	G	4: 43,566,346 (GRCm39)	D260G	probably benign	Het
Cyp1b1	G	T	17: 80,021,695 (GRCm39)	L16M	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dlec1	A	G	9: 118,966,321 (GRCm39)	K1097E	probably benign	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dok3	T	C	13: 55,671,389 (GRCm39)	N394S	probably benign	Het
Dpcd	A	G	19: 45,565,458 (GRCm39)	D144G	probably damaging	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eif4e1b	A	G	13: 54,932,018 (GRCm39)	N34S	probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fer1l6	T	C	15: 58,509,806 (GRCm39)	S1423P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Fxn	G	A	19: 24,239,407 (GRCm39)	R162C	probably damaging	Het
Fxr2	C	T	11: 69,543,099 (GRCm39)	T632M	probably benign	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Golga7b	A	T	19: 42,251,886 (GRCm39)	D44V	probably benign	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Hmcn2	T	C	2: 31,274,127 (GRCm39)	S1416P	probably damaging	Het
Hoxa11	G	A	6: 52,222,681 (GRCm39)	R7C	probably damaging	Het
Igkv14-126	A	T	6: 67,873,475 (GRCm39)	T68S	possibly damaging	Het
Insyn2a	T	C	7: 134,520,377 (GRCm39)	D51G	probably damaging	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kif22	A	G	7: 126,628,131 (GRCm39)	S540P	probably damaging	Het
Lrrtm4	T	C	6: 79,998,939 (GRCm39)	L117P	probably damaging	Het
Mad2l1	G	T	6: 66,514,612 (GRCm39)	G94C	possibly damaging	Het
Malrd1	C	A	2: 15,700,137 (GRCm39)	H661Q	probably damaging	Het
Mical3	T	A	6: 120,993,796 (GRCm39)		probably benign	Het
Mipep	T	A	14: 61,109,554 (GRCm39)	W644R	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myof	A	G	19: 37,901,805 (GRCm39)	F997L	possibly damaging	Het
Nagpa	C	T	16: 5,021,613 (GRCm39)	R46H	probably damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or52h1	A	T	7: 103,828,961 (GRCm39)	V218D	possibly damaging	Het
Or5ac23	A	G	16: 59,149,785 (GRCm39)	V29A	possibly damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pcdhb7	G	A	18: 37,475,709 (GRCm39)	V282I	probably benign	Het
Pcnx4	A	G	12: 72,603,648 (GRCm39)	D523G	possibly damaging	Het
Pigx	G	A	16: 31,903,404 (GRCm39)	T219I	probably damaging	Het
Plch1	G	T	3: 63,648,210 (GRCm39)	P399Q	probably damaging	Het
Pvrig-ps	T	A	5: 138,340,537 (GRCm39)	F74I	possibly damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Serpina9	T	A	12: 103,967,666 (GRCm39)	H243L	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 57,051,713 (GRCm39)	E6G	possibly damaging	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tnrc18	T	A	5: 142,750,928 (GRCm39)	K1217N	unknown	Het
Trim33	G	A	3: 103,244,848 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Tubgcp6	A	T	15: 89,006,994 (GRCm39)	D9E	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Zfp655	T	A	5: 145,180,572 (GRCm39)	F143L	possibly damaging	Het

Other mutations in Ldlr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Ldlr	APN	9	21,646,657 (GRCm39)	critical splice donor site	probably null
IGL01975:Ldlr	APN	9	21,644,993 (GRCm39)	missense	probably benign	0.05
IGL02043:Ldlr	APN	9	21,644,795 (GRCm39)	missense	probably benign	0.03
IGL02524:Ldlr	APN	9	21,644,977 (GRCm39)	missense	probably damaging	1.00
IGL03049:Ldlr	APN	9	21,657,115 (GRCm39)	missense	probably benign	0.00
IGL03113:Ldlr	APN	9	21,651,124 (GRCm39)	missense	possibly damaging	0.85
R0240:Ldlr	UTSW	9	21,649,295 (GRCm39)	splice site	probably benign
R0586:Ldlr	UTSW	9	21,651,040 (GRCm39)	missense	probably benign	0.00
R1398:Ldlr	UTSW	9	21,650,838 (GRCm39)	missense	probably benign	0.01
R1587:Ldlr	UTSW	9	21,649,209 (GRCm39)	missense	probably damaging	0.99
R2198:Ldlr	UTSW	9	21,643,698 (GRCm39)	missense	probably damaging	1.00
R3730:Ldlr	UTSW	9	21,643,097 (GRCm39)	missense	probably benign	0.09
R4422:Ldlr	UTSW	9	21,649,248 (GRCm39)	missense	probably damaging	1.00
R5044:Ldlr	UTSW	9	21,646,538 (GRCm39)	missense	probably benign	0.00
R5046:Ldlr	UTSW	9	21,657,203 (GRCm39)	critical splice donor site	probably null
R6186:Ldlr	UTSW	9	21,635,055 (GRCm39)	start gained	probably benign
R6523:Ldlr	UTSW	9	21,648,549 (GRCm39)	missense	probably damaging	1.00
R6682:Ldlr	UTSW	9	21,643,671 (GRCm39)	missense	probably benign
R7256:Ldlr	UTSW	9	21,657,040 (GRCm39)	missense	probably benign	0.01
R7384:Ldlr	UTSW	9	21,651,090 (GRCm39)	missense	probably benign	0.07
R7823:Ldlr	UTSW	9	21,653,602 (GRCm39)	critical splice donor site	probably null
R8065:Ldlr	UTSW	9	21,649,241 (GRCm39)	missense	probably damaging	1.00
R8223:Ldlr	UTSW	9	21,658,546 (GRCm39)	missense	probably damaging	1.00
R8732:Ldlr	UTSW	9	21,650,985 (GRCm39)	missense	probably benign	0.00
R8931:Ldlr	UTSW	9	21,643,108 (GRCm39)	missense	probably damaging	0.99
R8954:Ldlr	UTSW	9	21,650,828 (GRCm39)	missense	possibly damaging	0.87
R9315:Ldlr	UTSW	9	21,644,782 (GRCm39)	splice site	probably benign
R9489:Ldlr	UTSW	9	21,646,626 (GRCm39)	missense	probably damaging	1.00
R9517:Ldlr	UTSW	9	21,655,240 (GRCm39)	missense	possibly damaging	0.90
R9605:Ldlr	UTSW	9	21,646,626 (GRCm39)	missense	probably damaging	1.00
R9709:Ldlr	UTSW	9	21,657,135 (GRCm39)	missense	probably benign	0.00
X0024:Ldlr	UTSW	9	21,651,114 (GRCm39)	missense	probably damaging	1.00
Z1177:Ldlr	UTSW	9	21,651,126 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCGGTATTAACGTCTGACAGG -3'
(R):5'- GCCTTCTTCTAACTCACGAATG -3'

Sequencing Primer
(F):5'- ATTAACGTCTGACAGGTTGCC -3'
(R):5'- GCAGTAGAGCCCCTTGTCTAGTAAC -3'

Posted On

2018-02-27