Mutagenetix > Incidental Mutation

Incidental Mutation 'R1417:Lrp5'

159878

Institutional Source

Beutler Lab

Gene Symbol

Lrp5

Ensembl Gene

ENSMUSG00000024913

Gene Name

low density lipoprotein receptor-related protein 5

Synonyms

LRP7, LR3

MMRRC Submission

039473-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R1417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3634828-3736564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3636425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1514 (V1514A)

Ref Sequence

ENSEMBL: ENSMUSP00000025856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025856] [ENSMUST00000177294] [ENSMUST00000177330]

AlphaFold

Q91VN0

Predicted Effect

probably benign
Transcript: ENSMUST00000025856
AA Change: V1514A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025856
Gene: ENSMUSG00000024913
AA Change: V1514A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
LY	54	96	1.26e0	SMART
LY	99	141	2.11e-13	SMART
LY	142	185	1.32e-14	SMART
LY	186	228	1.6e-13	SMART
LY	229	270	4e-5	SMART
EGF	297	336	1.01e-1	SMART
LY	364	406	5.15e-8	SMART
LY	407	449	4.12e-16	SMART
LY	450	493	7.68e-16	SMART
LY	494	536	6.24e-16	SMART
LY	537	577	3.73e-5	SMART
EGF	603	640	2.48e-1	SMART
LY	666	708	5.92e-8	SMART
LY	709	751	5.65e-14	SMART
LY	752	795	3.81e-11	SMART
LY	796	837	3.54e-6	SMART
LY	838	877	1.33e-1	SMART
EGF	904	941	1.22e0	SMART
LY	968	1009	4.39e-2	SMART
LY	1015	1057	1.81e0	SMART
LY	1058	1102	9.47e-7	SMART
LY	1103	1145	6.91e-9	SMART
LY	1146	1186	1.53e0	SMART
EGF	1215	1253	2.85e-1	SMART
LDLa	1257	1296	1.23e-13	SMART
LDLa	1297	1333	3.26e-9	SMART
LDLa	1334	1371	1.31e-13	SMART
transmembrane domain	1384	1406	N/A	INTRINSIC
low complexity region	1494	1503	N/A	INTRINSIC
low complexity region	1571	1578	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177294

SMART Domains

Protein: ENSMUSP00000134771
Gene: ENSMUSG00000024913

Domain	Start	End	E-Value	Type
LY	1	26	1.88e1	SMART
LY	27	70	3.81e-11	SMART
LY	71	112	3.54e-6	SMART
LY	113	152	1.33e-1	SMART
EGF	179	216	1.22e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177330

SMART Domains

Protein: ENSMUSP00000134983
Gene: ENSMUSG00000024913

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
LY	54	96	1.26e0	SMART
LY	99	141	2.11e-13	SMART
LY	142	185	1.32e-14	SMART
LY	186	228	1.6e-13	SMART

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutants show variable bone loss, decreased osteoblast proliferation, impaired glucose tolerance, increased plasma cholesterol on high-fat diet and persistent embryonic eye vascularization, depending on allelic combination and strain background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	A	G	16: 29,117,053 (GRCm39)	V565A	probably benign	Het
Atp6v1b1	T	C	6: 83,730,862 (GRCm39)	S196P	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ces1a	C	T	8: 93,749,044 (GRCm39)	D456N	probably benign	Het
Clu	T	A	14: 66,212,420 (GRCm39)	Y124*	probably null	Het
Cnnm1	A	G	19: 43,458,162 (GRCm39)	E658G	probably benign	Het
Dnah9	T	C	11: 65,846,573 (GRCm39)	E2913G	probably damaging	Het
Edc4	G	A	8: 106,614,487 (GRCm39)		probably null	Het
Enox1	C	T	14: 77,723,445 (GRCm39)		probably benign	Het
G6pc2	T	C	2: 69,053,312 (GRCm39)	V122A	probably damaging	Het
Galns	T	C	8: 123,311,652 (GRCm39)	S453G	possibly damaging	Het
Gm12185	A	C	11: 48,798,669 (GRCm39)	V608G	probably damaging	Het
Hbq1a	A	G	11: 32,250,722 (GRCm39)	D135G	probably benign	Het
Hspg2	A	G	4: 137,244,947 (GRCm39)	T891A	probably benign	Het
Ift172	T	C	5: 31,413,993 (GRCm39)	Y1445C	probably damaging	Het
Ipo8	C	T	6: 148,719,550 (GRCm39)	D132N	probably benign	Het
Klhl11	T	C	11: 100,363,115 (GRCm39)	E147G	probably benign	Het
Kmt2d	A	T	15: 98,764,311 (GRCm39)	V41D	probably damaging	Het
Lrp1b	T	C	2: 40,894,653 (GRCm39)	I2306V	probably benign	Het
Lrrtm2	A	T	18: 35,347,011 (GRCm39)	I97N	probably damaging	Het
Mtmr3	C	A	11: 4,437,923 (GRCm39)	V844L	probably benign	Het
Myh8	A	G	11: 67,197,011 (GRCm39)	E1832G	probably damaging	Het
Or4n5	T	A	14: 50,133,020 (GRCm39)	R80*	probably null	Het
Pcdhb16	A	G	18: 37,611,180 (GRCm39)	T47A	probably benign	Het
Pfkp	T	C	13: 6,655,755 (GRCm39)	K293E	probably benign	Het
Phlpp2	G	T	8: 110,667,313 (GRCm39)	E1281*	probably null	Het
Prss23	T	A	7: 89,159,392 (GRCm39)	T226S	probably damaging	Het
Slc8a1	T	G	17: 81,715,709 (GRCm39)	M775L	probably damaging	Het
Stx12	A	G	4: 132,587,853 (GRCm39)		probably null	Het
Syt11	A	T	3: 88,669,289 (GRCm39)	I201N	probably damaging	Het
Ttc21a	A	G	9: 119,783,327 (GRCm39)	N543S	probably damaging	Het
Usf3	A	G	16: 44,037,812 (GRCm39)	N764S	probably benign	Het
Xylb	A	G	9: 119,193,606 (GRCm39)	D100G	probably benign	Het
Zfp423	T	C	8: 88,500,284 (GRCm39)		probably null	Het
Zkscan16	T	C	4: 58,952,377 (GRCm39)	V225A	probably benign	Het

Other mutations in Lrp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Lrp5	APN	19	3,699,404 (GRCm39)	missense	probably benign
IGL00902:Lrp5	APN	19	3,650,774 (GRCm39)	missense	probably damaging	1.00
IGL02032:Lrp5	APN	19	3,665,886 (GRCm39)	splice site	probably benign
IGL02331:Lrp5	APN	19	3,641,816 (GRCm39)	missense	possibly damaging	0.64
IGL02401:Lrp5	APN	19	3,643,585 (GRCm39)	missense	probably damaging	1.00
IGL02471:Lrp5	APN	19	3,652,408 (GRCm39)	missense	probably benign	0.31
IGL02572:Lrp5	APN	19	3,664,283 (GRCm39)	missense	probably benign	0.17
IGL02637:Lrp5	APN	19	3,680,269 (GRCm39)	missense	probably benign	0.03
IGL02696:Lrp5	APN	19	3,652,253 (GRCm39)	missense	probably benign
IGL02742:Lrp5	APN	19	3,654,022 (GRCm39)	missense	probably damaging	0.99
IGL02804:Lrp5	APN	19	3,650,777 (GRCm39)	missense	possibly damaging	0.63
IGL03089:Lrp5	APN	19	3,670,314 (GRCm39)	splice site	probably null
IGL03243:Lrp5	APN	19	3,680,159 (GRCm39)	missense	probably benign	0.12
Contrarian	UTSW	19	3,709,355 (GRCm39)	missense	probably damaging	1.00
Contrarian2	UTSW	19	3,702,296 (GRCm39)	missense	probably damaging	1.00
lucent	UTSW	19	3,736,353 (GRCm39)	critical splice donor site	probably null
Microtome	UTSW	19	3,672,638 (GRCm39)	missense	probably damaging	1.00
r18	UTSW	19	0 ()	small insertion
Spicule	UTSW	19	3,662,197 (GRCm39)	critical splice donor site	probably null
Stirrup	UTSW	19	3,650,753 (GRCm39)	missense	probably damaging	1.00
PIT4494001:Lrp5	UTSW	19	3,660,091 (GRCm39)	missense	probably damaging	1.00
R0219:Lrp5	UTSW	19	3,647,349 (GRCm39)	missense	probably damaging	1.00
R0526:Lrp5	UTSW	19	3,678,295 (GRCm39)	missense	probably damaging	1.00
R0597:Lrp5	UTSW	19	3,650,777 (GRCm39)	missense	possibly damaging	0.63
R0883:Lrp5	UTSW	19	3,655,308 (GRCm39)	missense	probably damaging	1.00
R1086:Lrp5	UTSW	19	3,699,476 (GRCm39)	missense	probably benign	0.28
R1468:Lrp5	UTSW	19	3,670,191 (GRCm39)	missense	possibly damaging	0.76
R1468:Lrp5	UTSW	19	3,670,191 (GRCm39)	missense	possibly damaging	0.76
R1533:Lrp5	UTSW	19	3,664,234 (GRCm39)	missense	probably benign	0.17
R1538:Lrp5	UTSW	19	3,697,585 (GRCm39)	missense	possibly damaging	0.70
R1856:Lrp5	UTSW	19	3,647,346 (GRCm39)	missense	probably benign	0.18
R1930:Lrp5	UTSW	19	3,660,131 (GRCm39)	missense	probably benign	0.02
R1931:Lrp5	UTSW	19	3,660,131 (GRCm39)	missense	probably benign	0.02
R1932:Lrp5	UTSW	19	3,660,131 (GRCm39)	missense	probably benign	0.02
R1951:Lrp5	UTSW	19	3,670,298 (GRCm39)	missense	possibly damaging	0.89
R2016:Lrp5	UTSW	19	3,660,056 (GRCm39)	missense	probably benign	0.04
R2131:Lrp5	UTSW	19	3,672,708 (GRCm39)	missense	possibly damaging	0.87
R2153:Lrp5	UTSW	19	3,664,339 (GRCm39)	missense	probably benign	0.22
R2403:Lrp5	UTSW	19	3,647,430 (GRCm39)	missense	probably damaging	1.00
R3158:Lrp5	UTSW	19	3,665,849 (GRCm39)	missense	probably damaging	0.97
R3771:Lrp5	UTSW	19	3,662,330 (GRCm39)	missense	probably damaging	1.00
R3772:Lrp5	UTSW	19	3,662,330 (GRCm39)	missense	probably damaging	1.00
R3773:Lrp5	UTSW	19	3,662,330 (GRCm39)	missense	probably damaging	1.00
R3825:Lrp5	UTSW	19	3,655,290 (GRCm39)	nonsense	probably null
R3887:Lrp5	UTSW	19	3,662,330 (GRCm39)	missense	probably damaging	1.00
R3888:Lrp5	UTSW	19	3,662,330 (GRCm39)	missense	probably damaging	1.00
R3893:Lrp5	UTSW	19	3,662,330 (GRCm39)	missense	probably damaging	1.00
R3917:Lrp5	UTSW	19	3,662,330 (GRCm39)	missense	probably damaging	1.00
R4279:Lrp5	UTSW	19	3,641,778 (GRCm39)	missense	possibly damaging	0.94
R4714:Lrp5	UTSW	19	3,709,454 (GRCm39)	missense	probably damaging	1.00
R4825:Lrp5	UTSW	19	3,664,292 (GRCm39)	missense	probably damaging	1.00
R5102:Lrp5	UTSW	19	3,709,304 (GRCm39)	missense	probably damaging	0.96
R5138:Lrp5	UTSW	19	3,678,319 (GRCm39)	missense	probably benign	0.03
R5497:Lrp5	UTSW	19	3,652,319 (GRCm39)	missense	probably damaging	1.00
R5632:Lrp5	UTSW	19	3,672,512 (GRCm39)	missense	probably benign
R5887:Lrp5	UTSW	19	3,654,094 (GRCm39)	missense	probably benign	0.01
R5950:Lrp5	UTSW	19	3,652,333 (GRCm39)	missense	probably benign	0.17
R5987:Lrp5	UTSW	19	3,678,299 (GRCm39)	missense	probably damaging	1.00
R6080:Lrp5	UTSW	19	3,678,316 (GRCm39)	missense	probably benign	0.32
R6181:Lrp5	UTSW	19	3,678,427 (GRCm39)	missense	probably damaging	1.00
R6236:Lrp5	UTSW	19	3,680,483 (GRCm39)	splice site	probably null
R6332:Lrp5	UTSW	19	3,709,355 (GRCm39)	missense	probably damaging	1.00
R6511:Lrp5	UTSW	19	3,702,296 (GRCm39)	missense	probably damaging	1.00
R6641:Lrp5	UTSW	19	3,702,287 (GRCm39)	missense	probably damaging	1.00
R6791:Lrp5	UTSW	19	3,650,753 (GRCm39)	missense	probably damaging	1.00
R6865:Lrp5	UTSW	19	3,670,013 (GRCm39)	critical splice donor site	probably null
R6906:Lrp5	UTSW	19	3,672,638 (GRCm39)	missense	probably damaging	1.00
R6922:Lrp5	UTSW	19	3,655,301 (GRCm39)	missense	probably damaging	1.00
R7091:Lrp5	UTSW	19	3,680,184 (GRCm39)	missense	probably damaging	1.00
R7303:Lrp5	UTSW	19	3,641,774 (GRCm39)	missense	probably damaging	0.99
R7368:Lrp5	UTSW	19	3,670,085 (GRCm39)	missense	possibly damaging	0.95
R7381:Lrp5	UTSW	19	3,643,588 (GRCm39)	missense	probably benign	0.20
R7385:Lrp5	UTSW	19	3,662,197 (GRCm39)	critical splice donor site	probably null
R7392:Lrp5	UTSW	19	3,660,199 (GRCm39)	missense	probably damaging	1.00
R7448:Lrp5	UTSW	19	3,699,439 (GRCm39)	missense	probably benign	0.01
R7585:Lrp5	UTSW	19	3,654,094 (GRCm39)	missense	possibly damaging	0.88
R7662:Lrp5	UTSW	19	3,736,353 (GRCm39)	critical splice donor site	probably null
R7984:Lrp5	UTSW	19	3,662,342 (GRCm39)	missense	probably damaging	1.00
R8056:Lrp5	UTSW	19	3,647,337 (GRCm39)	missense	probably damaging	0.98
R8391:Lrp5	UTSW	19	3,654,185 (GRCm39)	missense	probably damaging	1.00
R8881:Lrp5	UTSW	19	3,641,015 (GRCm39)	missense	probably damaging	0.98
R8885:Lrp5	UTSW	19	3,702,170 (GRCm39)	missense	probably damaging	1.00
R9051:Lrp5	UTSW	19	3,680,156 (GRCm39)	missense	possibly damaging	0.89
R9263:Lrp5	UTSW	19	3,654,190 (GRCm39)	missense	probably damaging	1.00
R9376:Lrp5	UTSW	19	3,670,286 (GRCm39)	missense	probably benign	0.00
R9400:Lrp5	UTSW	19	3,635,272 (GRCm39)	missense	probably benign	0.00
R9536:Lrp5	UTSW	19	3,672,672 (GRCm39)	missense	probably damaging	1.00
R9600:Lrp5	UTSW	19	3,641,712 (GRCm39)	missense	probably benign	0.00
Z1177:Lrp5	UTSW	19	3,678,345 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGGTGTCTCAAGCAATGGAGAAG -3'
(R):5'- TTTGGGGAAGATGGCTGATGCCAC -3'

Sequencing Primer
(F):5'- CACTTGTATAAAACCAGCTCTGAG -3'
(R):5'- CCTAAGTTTCACTAGCTCTGGAAGG -3'

Posted On

2014-03-14