Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02572:Lrp5'

299056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrp5

Ensembl Gene

ENSMUSG00000024913

Gene Name

low density lipoprotein receptor-related protein 5

Synonyms

LRP7, LR3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

IGL02572

Quality Score

Status

Chromosome

Chromosomal Location

3634828-3736564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3664283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 815 (Q815K)

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: Q815K

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025856
Gene: ENSMUSG00000024913
AA Change: Q815K

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
AA Change: Q90K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000134771
Gene: ENSMUSG00000024913
AA Change: Q90K

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	C	1: 85,652,892 (GRCm39)	N92S	probably damaging	Het
Abca2	T	C	2: 25,323,329 (GRCm39)	L99P	possibly damaging	Het
Adam19	T	A	11: 46,022,548 (GRCm39)	Y500*	probably null	Het
Amy1	A	T	3: 113,358,722 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,197,526 (GRCm39)	I624T	probably damaging	Het
Atad3a	C	T	4: 155,838,041 (GRCm39)	D244N	possibly damaging	Het
Atp5mf	C	A	5: 145,124,047 (GRCm39)		probably benign	Het
Bbof1	G	A	12: 84,475,139 (GRCm39)	D443N	probably damaging	Het
Bod1l	G	A	5: 41,978,573 (GRCm39)	Q914*	probably null	Het
C330011M18Rik	A	G	8: 84,793,208 (GRCm39)		probably benign	Het
Cgref1	A	G	5: 31,090,911 (GRCm39)	V301A	probably benign	Het
Coa6	T	C	8: 127,149,480 (GRCm39)	Y19H	probably damaging	Het
Cop1	T	A	1: 159,136,448 (GRCm39)		probably benign	Het
Dmrta1	T	C	4: 89,579,795 (GRCm39)	S252P	probably benign	Het
Dnaaf5	T	G	5: 139,170,384 (GRCm39)	S484A	probably benign	Het
Dspp	A	T	5: 104,324,935 (GRCm39)	S433C	probably damaging	Het
Efcab5	G	A	11: 77,028,714 (GRCm39)	R206*	probably null	Het
Epop	A	T	11: 97,519,027 (GRCm39)	S361T	probably benign	Het
Fat3	T	A	9: 15,871,802 (GRCm39)	T3530S	probably benign	Het
Flvcr1	A	G	1: 190,757,843 (GRCm39)	Y108H	probably damaging	Het
Fsip2	T	G	2: 82,822,347 (GRCm39)	S6027A	probably benign	Het
Galnt14	A	G	17: 73,842,262 (GRCm39)	L209P	probably damaging	Het
Hif3a	C	A	7: 16,784,513 (GRCm39)	R25L	probably null	Het
Hsf5	A	G	11: 87,522,521 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,502,492 (GRCm39)	T104S	probably benign	Het
Klrk1	A	G	6: 129,592,316 (GRCm39)	S138P	probably damaging	Het
Morn4	A	G	19: 42,064,886 (GRCm39)		probably benign	Het
Nlrp14	T	A	7: 106,781,929 (GRCm39)	Y375*	probably null	Het
Nsd1	T	A	13: 55,443,943 (GRCm39)	M1714K	probably damaging	Het
Or2aj6	T	A	16: 19,443,848 (GRCm39)	M1L	probably benign	Het
Or5aq7	G	A	2: 86,938,710 (GRCm39)	T7I	possibly damaging	Het
Or6c213	T	A	10: 129,574,735 (GRCm39)	D17V	possibly damaging	Het
Pappa2	C	T	1: 158,678,786 (GRCm39)	A877T	probably benign	Het
Pcsk2	G	A	2: 143,532,262 (GRCm39)	A137T	probably damaging	Het
Piezo1	A	G	8: 123,212,044 (GRCm39)	V2054A	probably benign	Het
Rad52	A	G	6: 119,892,188 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rusf1	A	T	7: 127,889,752 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,519,740 (GRCm39)		probably benign	Het
Scrn1	C	T	6: 54,489,186 (GRCm39)	D312N	probably benign	Het
Sin3b	A	G	8: 73,471,109 (GRCm39)	Q352R	probably benign	Het
Slc25a28	A	G	19: 43,652,885 (GRCm39)	Y259H	probably damaging	Het
Sppl2a	T	C	2: 126,768,216 (GRCm39)	M151V	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stra8	G	A	6: 34,916,094 (GRCm39)	D280N	probably damaging	Het
Thbs2	A	T	17: 14,897,275 (GRCm39)	D744E	possibly damaging	Het
Tiparp	A	G	3: 65,439,310 (GRCm39)	T27A	probably benign	Het
Tmem38a	T	C	8: 73,333,818 (GRCm39)	F99S	probably damaging	Het
Tmod3	T	C	9: 75,416,667 (GRCm39)	T222A	probably benign	Het
Tnn	A	G	1: 159,913,677 (GRCm39)	I1272T	probably damaging	Het
Tnpo1	A	T	13: 98,985,667 (GRCm39)	I829N	probably damaging	Het
Trpm5	A	T	7: 142,641,613 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,598,215 (GRCm39)	V19566A	probably damaging	Het
V1ra8	A	G	6: 90,180,040 (GRCm39)	D81G	probably damaging	Het
Zdhhc20	A	G	14: 58,127,564 (GRCm39)	V25A	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
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
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

Posted On

2015-04-16