Mutagenetix > Incidental Mutation

Incidental Mutation 'R6922:Lrp5'

539707

Institutional Source

Beutler Lab

Gene Symbol

Lrp5

Ensembl Gene

ENSMUSG00000024913

Gene Name

low density lipoprotein receptor-related protein 5

Synonyms

LRP7, LR3

MMRRC Submission

045041-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R6922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3634828-3736564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3655301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1073 (V1073D)

Ref Sequence

ENSEMBL: ENSMUSP00000025856 (fasta)

Gene Model

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

AlphaFold

Q91VN0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025856
AA Change: V1073D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025856
Gene: ENSMUSG00000024913
AA Change: V1073D

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	T	C	15: 72,985,601 (GRCm39)	I665V	probably benign	Het
Aoc1l3	T	G	6: 48,964,508 (GRCm39)	F172C	probably damaging	Het
Arhgap32	A	T	9: 32,063,983 (GRCm39)	M74L	possibly damaging	Het
Asb4	T	C	6: 5,398,304 (GRCm39)	C90R	possibly damaging	Het
B3galt4	T	A	17: 34,169,821 (GRCm39)	D139V	probably damaging	Het
Camta2	A	C	11: 70,564,964 (GRCm39)	I852S	probably benign	Het
Cd200l1	A	T	16: 45,264,294 (GRCm39)	M88K	probably benign	Het
Cox4i2	G	T	2: 152,599,015 (GRCm39)	E57D	probably benign	Het
Dip2b	T	C	15: 100,091,724 (GRCm39)	I1055T	probably benign	Het
Eif1ad18	T	A	12: 88,050,602 (GRCm39)	W46R	probably benign	Het
Eif4g3	C	T	4: 137,824,646 (GRCm39)	P284S	probably damaging	Het
Ephb1	C	A	9: 101,806,463 (GRCm39)		probably null	Het
Fbxw7	A	T	3: 84,879,723 (GRCm39)		probably null	Het
Frem1	C	A	4: 82,840,506 (GRCm39)	D1789Y	probably damaging	Het
Gm29106	A	T	1: 118,127,524 (GRCm39)	R405S	probably damaging	Het
Greb1l	G	A	18: 10,547,482 (GRCm39)	V1567M	possibly damaging	Het
Hapstr1	A	G	16: 8,648,553 (GRCm39)		probably null	Het
Heatr1	C	A	13: 12,449,956 (GRCm39)	D1983E	probably benign	Het
Lhfpl2	G	T	13: 94,311,029 (GRCm39)	A100S	probably damaging	Het
Naip6	G	A	13: 100,438,706 (GRCm39)	L364F	possibly damaging	Het
Nek9	A	G	12: 85,350,311 (GRCm39)	L921P	probably damaging	Het
Nim1k	C	T	13: 120,189,263 (GRCm39)	E49K	probably damaging	Het
Nsun5	A	C	5: 135,399,046 (GRCm39)	N32T	probably damaging	Het
Nuggc	T	C	14: 65,855,092 (GRCm39)	S325P	probably damaging	Het
Or2d36	A	G	7: 106,747,290 (GRCm39)	I256V	probably damaging	Het
Or5w12	T	A	2: 87,501,797 (GRCm39)	K305*	probably null	Het
Pcdhga7	A	G	18: 37,848,710 (GRCm39)	D239G	probably damaging	Het
Pld2	A	G	11: 70,444,273 (GRCm39)	D523G	probably benign	Het
Prokr1	C	A	6: 87,565,455 (GRCm39)	W130L	probably damaging	Het
Prpf8	A	G	11: 75,381,562 (GRCm39)	N266S	probably damaging	Het
Rdh10	T	C	1: 16,176,255 (GRCm39)	V5A	probably benign	Het
Rp1l1	T	C	14: 64,267,834 (GRCm39)	L1140P	possibly damaging	Het
Sacs	A	G	14: 61,448,874 (GRCm39)	D3640G	probably damaging	Het
Smarca2	A	G	19: 26,668,749 (GRCm39)	E916G	probably damaging	Het
Steap3	A	T	1: 120,171,624 (GRCm39)	H160Q	probably damaging	Het
Tlk2	T	C	11: 105,147,779 (GRCm39)		probably null	Het
Tmprss4	A	G	9: 45,097,220 (GRCm39)	V15A	probably benign	Het
Togaram2	T	C	17: 72,014,129 (GRCm39)	L559P	probably damaging	Het
Topbp1	T	A	9: 103,213,045 (GRCm39)	L990H	probably damaging	Het
Ttll7	A	G	3: 146,615,369 (GRCm39)	T278A	possibly damaging	Het
Ttn	G	A	2: 76,604,780 (GRCm39)	L18385F	probably damaging	Het
Upf3a	G	T	8: 13,841,911 (GRCm39)	A149S	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp316	A	T	5: 143,239,280 (GRCm39)	F913Y	probably damaging	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
R1417:Lrp5	UTSW	19	3,636,425 (GRCm39)	missense	probably benign	0.04
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
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'- ACGTCACCTTCAGCTTGTGC -3'
(R):5'- AGGCTGACTTGACCTTCTGC -3'

Sequencing Primer
(F):5'- TGCAGCTGGGGGTCCTG -3'
(R):5'- CTCCCTGGGTGTTCATGGC -3'

Posted On

2018-11-06