Mutagenetix > Incidental Mutation

Incidental Mutation 'R4840:Lrp8'

371703

Institutional Source

Beutler Lab

Gene Symbol

Lrp8

Ensembl Gene

ENSMUSG00000028613

Gene Name

low density lipoprotein receptor-related protein 8, apolipoprotein e receptor

Synonyms

4932703M08Rik, Lr8b, apoER2

MMRRC Submission

042453-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

R4840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107659337-107734037 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107727234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 893 (L893Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030356] [ENSMUST00000106732] [ENSMUST00000106733] [ENSMUST00000126573] [ENSMUST00000143601]

AlphaFold

Q924X6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030356
AA Change: L893Q

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030356
Gene: ENSMUSG00000028613
AA Change: L893Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LDLa	40	77	3.24e-13	SMART
EGF_like	79	117	3.29e1	SMART
LDLa	79	118	2.45e-13	SMART
LDLa	120	159	1.19e-11	SMART
LDLa	160	197	3.52e-14	SMART
LDLa	199	239	8.09e-14	SMART
LDLa	250	288	4.05e-14	SMART
LDLa	290	327	4.58e-13	SMART
EGF	331	367	2.83e-5	SMART
EGF_CA	368	407	9.91e-10	SMART
LY	434	476	8.44e-4	SMART
LY	481	523	2.29e-14	SMART
LY	524	567	5.96e-13	SMART
LY	568	610	4.21e-13	SMART
LY	612	654	7.24e-3	SMART
EGF	681	727	1.56e1	SMART
low complexity region	729	745	N/A	INTRINSIC
low complexity region	783	798	N/A	INTRINSIC
transmembrane domain	818	840	N/A	INTRINSIC
low complexity region	863	869	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106731

SMART Domains

Protein: ENSMUSP00000102342
Gene: ENSMUSG00000028613

Domain	Start	End	E-Value	Type
EGF_like	9	47	3.29e1	SMART
LDLa	9	48	2.45e-13	SMART
LDLa	50	89	1.19e-11	SMART
LDLa	93	130	4.58e-13	SMART
EGF	134	170	2.83e-5	SMART
EGF_CA	171	210	9.91e-10	SMART
LY	237	279	8.44e-4	SMART
LY	284	326	2.29e-14	SMART
LY	327	370	5.96e-13	SMART
LY	371	413	4.21e-13	SMART
LY	415	457	7.24e-3	SMART
EGF	484	530	1.56e1	SMART
low complexity region	532	548	N/A	INTRINSIC
low complexity region	586	601	N/A	INTRINSIC
transmembrane domain	621	643	N/A	INTRINSIC
low complexity region	666	672	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106732
AA Change: L808Q

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102343
Gene: ENSMUSG00000028613
AA Change: L808Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LDLa	40	77	3.24e-13	SMART
EGF_like	79	117	3.29e1	SMART
LDLa	79	118	2.45e-13	SMART
LDLa	120	159	1.19e-11	SMART
LDLa	164	201	4.58e-13	SMART
LDLa	204	244	1.4e-8	SMART
EGF	246	282	2.83e-5	SMART
EGF_CA	283	322	9.91e-10	SMART
LY	349	391	8.44e-4	SMART
LY	396	438	2.29e-14	SMART
LY	439	482	5.96e-13	SMART
LY	483	525	4.21e-13	SMART
LY	527	569	7.24e-3	SMART
EGF	596	642	1.56e1	SMART
low complexity region	644	660	N/A	INTRINSIC
low complexity region	698	713	N/A	INTRINSIC
transmembrane domain	733	755	N/A	INTRINSIC
low complexity region	778	784	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106733

SMART Domains

Protein: ENSMUSP00000102344
Gene: ENSMUSG00000028613

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LDLa	40	77	3.24e-13	SMART
EGF_like	79	117	3.29e1	SMART
LDLa	79	118	2.45e-13	SMART
LDLa	120	159	1.19e-11	SMART
LDLa	160	197	3.52e-14	SMART
LDLa	199	239	8.09e-14	SMART
LDLa	250	288	4.05e-14	SMART
LDLa	290	327	4.58e-13	SMART
EGF	331	367	2.83e-5	SMART
EGF_CA	368	407	9.91e-10	SMART
LY	434	476	8.44e-4	SMART
LY	481	523	2.29e-14	SMART
LY	524	567	5.96e-13	SMART
LY	568	610	4.21e-13	SMART
LY	612	654	7.24e-3	SMART
EGF	681	727	1.56e1	SMART
low complexity region	729	745	N/A	INTRINSIC
low complexity region	783	798	N/A	INTRINSIC
transmembrane domain	818	840	N/A	INTRINSIC
low complexity region	863	869	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123140

Predicted Effect

probably benign
Transcript: ENSMUST00000126573

SMART Domains

Protein: ENSMUSP00000118020
Gene: ENSMUSG00000028613

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LDLa	40	77	3.24e-13	SMART
EGF_like	79	117	3.29e1	SMART
LDLa	79	118	2.45e-13	SMART
LDLa	120	159	1.19e-11	SMART
LDLa	163	200	4.58e-13	SMART
EGF	204	240	2.83e-5	SMART
EGF_CA	241	280	9.91e-10	SMART
LY	307	349	8.44e-4	SMART
LY	354	396	2.29e-14	SMART
LY	397	440	5.96e-13	SMART
LY	441	483	4.21e-13	SMART
LY	485	527	7.24e-3	SMART
EGF	554	600	1.56e1	SMART
transmembrane domain	616	638	N/A	INTRINSIC
low complexity region	661	667	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143601
AA Change: L934Q

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115854
Gene: ENSMUSG00000028613
AA Change: L934Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LDLa	40	77	3.24e-13	SMART
EGF_like	79	117	3.29e1	SMART
LDLa	79	118	2.45e-13	SMART
LDLa	120	159	1.19e-11	SMART
LDLa	160	197	3.52e-14	SMART
LDLa	199	239	8.09e-14	SMART
LDLa	250	288	4.05e-14	SMART
LDLa	290	327	4.58e-13	SMART
LDLa	330	370	1.4e-8	SMART
EGF	372	408	2.83e-5	SMART
EGF_CA	409	448	9.91e-10	SMART
LY	475	517	8.44e-4	SMART
LY	522	564	2.29e-14	SMART
LY	565	608	5.96e-13	SMART
LY	609	651	4.21e-13	SMART
LY	653	695	7.24e-3	SMART
EGF	722	768	1.56e1	SMART
low complexity region	770	786	N/A	INTRINSIC
low complexity region	824	839	N/A	INTRINSIC
transmembrane domain	859	881	N/A	INTRINSIC
low complexity region	904	910	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146552

Meta Mutation Damage Score

0.0899

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

97% (114/117)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired granule cell migration, radial glial scaffold formation, contextual fear conditioning, and long-term potentiation. Mutant males have abnormal sperm and are sterile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	A	1: 85,974,166 (GRCm39)	T161K	probably benign	Het
Actn3	G	A	19: 4,914,539 (GRCm39)	R530W	probably damaging	Het
Alg11	C	T	8: 22,558,026 (GRCm39)	A404V	possibly damaging	Het
Alkbh8	T	A	9: 3,369,751 (GRCm39)	V340D	probably damaging	Het
Arhgef12	T	C	9: 42,886,364 (GRCm39)	H1166R	probably benign	Het
Aspm	T	A	1: 139,398,269 (GRCm39)	D978E	possibly damaging	Het
Bod1l	C	T	5: 41,975,815 (GRCm39)	G1833D	probably damaging	Het
Brd3	A	G	2: 27,339,251 (GRCm39)	V676A	possibly damaging	Het
Brip1	G	A	11: 86,037,009 (GRCm39)	T454I	possibly damaging	Het
C3ar1	T	C	6: 122,827,723 (GRCm39)	I165V	probably benign	Het
Camta1	T	A	4: 151,228,864 (GRCm39)	Q656L	probably benign	Het
Casp14	A	T	10: 78,549,178 (GRCm39)	L256*	probably null	Het
Cdh23	G	T	10: 60,255,556 (GRCm39)	H773Q	possibly damaging	Het
Chd1	G	T	17: 15,989,016 (GRCm39)	D1590Y	probably damaging	Het
Chd1	G	A	17: 15,989,015 (GRCm39)	W1589*	probably null	Het
Cldn19	A	G	4: 119,112,951 (GRCm39)	Q61R	probably damaging	Het
Cyp2a22	A	G	7: 26,631,949 (GRCm39)	S436P	probably benign	Het
Emc10	A	C	7: 44,142,051 (GRCm39)	V124G	probably damaging	Het
Enam	A	T	5: 88,650,885 (GRCm39)	D723V	probably benign	Het
Eps8	C	A	6: 137,504,128 (GRCm39)	Q158H	probably damaging	Het
Ercc6	G	A	14: 32,263,253 (GRCm39)	D486N	probably damaging	Het
Fasn	T	C	11: 120,703,885 (GRCm39)	E1485G	possibly damaging	Het
Fat2	T	C	11: 55,169,844 (GRCm39)	K2972E	probably benign	Het
Fbxw28	T	C	9: 109,168,602 (GRCm39)	K30R	probably null	Het
Flot2	T	A	11: 77,948,339 (GRCm39)	L164Q	probably damaging	Het
Fsip2	A	T	2: 82,779,739 (GRCm39)	I162L	probably benign	Het
Fsip2	A	T	2: 82,815,815 (GRCm39)	L3849F	probably benign	Het
Gabrb1	C	G	5: 71,858,154 (GRCm39)	P60R	probably damaging	Het
Galnt14	T	C	17: 73,811,893 (GRCm39)	R443G	probably benign	Het
Gas8	C	T	8: 124,257,753 (GRCm39)	T400M	probably benign	Het
Gfap	T	C	11: 102,785,214 (GRCm39)	Y254C	probably damaging	Het
Git2	A	G	5: 114,883,543 (GRCm39)	S396P	probably damaging	Het
Glb1l3	A	T	9: 26,740,349 (GRCm39)	M327K	probably benign	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10787	G	A	10: 76,857,841 (GRCm39)		noncoding transcript	Het
Gm1123	T	A	9: 98,900,622 (GRCm39)	D78V	probably damaging	Het
Gm27013	T	C	6: 130,655,079 (GRCm39)	T128A	probably benign	Het
Gpbp1	A	G	13: 111,577,164 (GRCm39)		probably null	Het
Gphn	G	A	12: 78,569,729 (GRCm39)		probably null	Het
Gpr157	A	G	4: 150,186,823 (GRCm39)	E317G	probably benign	Het
Gsdmc4	T	A	15: 63,765,596 (GRCm39)	M318L	probably benign	Het
Gtf2f2	A	T	14: 76,248,131 (GRCm39)	W19R	probably damaging	Het
Gvin-ps3	T	C	7: 105,680,627 (GRCm39)		noncoding transcript	Het
Helb	A	G	10: 119,920,763 (GRCm39)	V1060A	probably benign	Het
Igfn1	C	T	1: 135,895,778 (GRCm39)	G1596D	probably benign	Het
Il1rl2	T	C	1: 40,366,547 (GRCm39)	I27T	possibly damaging	Het
Inpp5j	A	G	11: 3,449,676 (GRCm39)	V702A	probably damaging	Het
Kmt2d	A	C	15: 98,759,775 (GRCm39)	V1161G	unknown	Het
Krtap1-3	T	G	11: 99,481,715 (GRCm39)	Y144S	possibly damaging	Het
Layn	C	T	9: 50,968,682 (GRCm39)	V354M	probably damaging	Het
Lrba	G	A	3: 86,526,816 (GRCm39)		probably null	Het
Mrps9	T	A	1: 42,937,575 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,862,813 (GRCm39)	M1387K	probably damaging	Het
Myo18b	A	C	5: 113,021,895 (GRCm39)	V499G	probably benign	Het
Nbea	T	C	3: 55,618,091 (GRCm39)	E2321G	probably benign	Het
Nrsn2	C	T	2: 152,211,552 (GRCm39)	V160I	probably benign	Het
Nup210	G	A	6: 91,008,650 (GRCm39)	Q510*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or2ag12	T	G	7: 106,277,330 (GRCm39)	D121A	probably damaging	Het
P3h3	G	T	6: 124,827,600 (GRCm39)	Q479K	possibly damaging	Het
Paqr9	T	A	9: 95,442,723 (GRCm39)	F238I	probably damaging	Het
Parp3	A	T	9: 106,350,308 (GRCm39)	L343H	probably damaging	Het
Pcdh18	A	C	3: 49,699,117 (GRCm39)	M1115R	probably damaging	Het
Pcdh8	A	G	14: 80,008,308 (GRCm39)	V85A	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,452 (GRCm39)	N254S	possibly damaging	Het
Pld1	T	C	3: 28,130,700 (GRCm39)	V500A	probably benign	Het
Pramel29	T	C	4: 143,935,144 (GRCm39)	K199R	probably damaging	Het
Prkg2	A	T	5: 99,129,002 (GRCm39)	D311E	probably benign	Het
Prss42	T	C	9: 110,628,369 (GRCm39)	L171P	probably damaging	Het
Pth2	T	A	7: 44,830,767 (GRCm39)	L17H	probably damaging	Het
Reln	A	T	5: 22,223,844 (GRCm39)		probably null	Het
Rmi2	G	T	16: 10,657,701 (GRCm39)	V104L	probably damaging	Het
Rpusd4	T	A	9: 35,179,831 (GRCm39)	V108D	probably damaging	Het
Rufy4	C	A	1: 74,168,198 (GRCm39)	T82K	possibly damaging	Het
Scimp	G	A	11: 70,682,294 (GRCm39)	Q141*	probably null	Het
Sel1l2	T	C	2: 140,105,390 (GRCm39)	T267A	probably benign	Het
Sema5a	T	A	15: 32,550,400 (GRCm39)	S146R	possibly damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Slc30a6	T	C	17: 74,712,716 (GRCm39)	L71P	probably damaging	Het
Srrm3	A	G	5: 135,883,449 (GRCm39)	Y224C	possibly damaging	Het
Tacr3	A	T	3: 134,560,615 (GRCm39)	T185S	possibly damaging	Het
Tas2r140	T	A	6: 133,032,528 (GRCm39)	T77S	probably benign	Het
Thsd7b	T	C	1: 129,523,581 (GRCm39)	V128A	probably benign	Het
Tnfrsf10b	T	G	14: 70,013,608 (GRCm39)	H179Q	probably damaging	Het
Tonsl	A	G	15: 76,517,409 (GRCm39)	V770A	probably benign	Het
Trim42	G	A	9: 97,244,982 (GRCm39)	P606L	probably benign	Het
Trim45	A	T	3: 100,832,804 (GRCm39)	T346S	possibly damaging	Het
Ttc28	C	A	5: 111,433,947 (GRCm39)	S2296Y	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Tube1	A	G	10: 39,020,842 (GRCm39)	N243D	probably benign	Het
Tvp23b	G	T	11: 62,770,424 (GRCm39)		probably null	Het
Ubxn11	T	A	4: 133,836,919 (GRCm39)	I49N	probably damaging	Het
Usp17le	T	A	7: 104,418,977 (GRCm39)	E55V	probably benign	Het
Vmn2r114	A	T	17: 23,510,353 (GRCm39)	V709D	probably damaging	Het
Vmn2r129	G	C	4: 156,685,733 (GRCm39)		noncoding transcript	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r60	C	T	7: 41,785,285 (GRCm39)	P166S	probably damaging	Het
Vmn2r83	A	G	10: 79,313,682 (GRCm39)	I97V	possibly damaging	Het
Wbp2nl	A	T	15: 82,198,537 (GRCm39)	K358M	possibly damaging	Het
Xpo1	T	A	11: 23,228,183 (GRCm39)	I150N	probably damaging	Het
Zfp113	G	A	5: 138,143,687 (GRCm39)	L188F	probably damaging	Het
Zfp189	T	G	4: 49,529,984 (GRCm39)	S362R	probably damaging	Het
Zfp593os	A	G	4: 133,972,587 (GRCm39)		probably benign	Het

Other mutations in Lrp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Lrp8	APN	4	107,721,273 (GRCm39)	missense	probably benign	0.04
IGL01514:Lrp8	APN	4	107,712,881 (GRCm39)	missense	probably damaging	1.00
IGL02058:Lrp8	APN	4	107,727,306 (GRCm39)	missense	probably benign	0.25
IGL02398:Lrp8	APN	4	107,726,245 (GRCm39)	missense	probably damaging	1.00
IGL02398:Lrp8	APN	4	107,704,691 (GRCm39)	missense	probably damaging	0.97
IGL02706:Lrp8	APN	4	107,660,516 (GRCm39)	nonsense	probably null
IGL02754:Lrp8	APN	4	107,691,952 (GRCm39)	splice site	probably null
IGL02967:Lrp8	APN	4	107,718,431 (GRCm39)	missense	probably benign	0.21
IGL03080:Lrp8	APN	4	107,712,996 (GRCm39)	missense	probably damaging	1.00
IGL02837:Lrp8	UTSW	4	107,718,478 (GRCm39)	missense	probably benign	0.01
R0312:Lrp8	UTSW	4	107,664,052 (GRCm39)	intron	probably benign
R0440:Lrp8	UTSW	4	107,726,295 (GRCm39)	missense	probably damaging	0.99
R0598:Lrp8	UTSW	4	107,714,434 (GRCm39)	missense	possibly damaging	0.73
R1627:Lrp8	UTSW	4	107,711,613 (GRCm39)	missense	probably damaging	0.99
R1967:Lrp8	UTSW	4	107,717,168 (GRCm39)	missense	probably damaging	1.00
R2183:Lrp8	UTSW	4	107,660,462 (GRCm39)	missense	probably damaging	1.00
R2208:Lrp8	UTSW	4	107,712,987 (GRCm39)	missense	probably damaging	1.00
R2325:Lrp8	UTSW	4	107,721,206 (GRCm39)	missense	probably benign	0.03
R3712:Lrp8	UTSW	4	107,705,499 (GRCm39)	missense	probably benign	0.08
R4093:Lrp8	UTSW	4	107,700,468 (GRCm39)	nonsense	probably null
R4706:Lrp8	UTSW	4	107,718,470 (GRCm39)	missense	probably benign	0.00
R4765:Lrp8	UTSW	4	107,711,592 (GRCm39)	missense	probably damaging	1.00
R4900:Lrp8	UTSW	4	107,664,006 (GRCm39)	intron	probably benign
R5033:Lrp8	UTSW	4	107,691,952 (GRCm39)	splice site	probably null
R5280:Lrp8	UTSW	4	107,711,518 (GRCm39)	missense	probably damaging	1.00
R5381:Lrp8	UTSW	4	107,726,307 (GRCm39)	missense	probably damaging	1.00
R5935:Lrp8	UTSW	4	107,714,493 (GRCm39)	missense	probably damaging	1.00
R5972:Lrp8	UTSW	4	107,726,267 (GRCm39)	missense	probably damaging	1.00
R6076:Lrp8	UTSW	4	107,704,656 (GRCm39)	missense	possibly damaging	0.81
R6343:Lrp8	UTSW	4	107,726,353 (GRCm39)	splice site	probably null
R6805:Lrp8	UTSW	4	107,711,517 (GRCm39)	missense	probably damaging	0.99
R7100:Lrp8	UTSW	4	107,659,647 (GRCm39)	missense	possibly damaging	0.93
R7262:Lrp8	UTSW	4	107,704,661 (GRCm39)	missense	probably benign
R7717:Lrp8	UTSW	4	107,691,940 (GRCm39)	missense	probably benign	0.00
R7949:Lrp8	UTSW	4	107,660,524 (GRCm39)	missense	probably damaging	1.00
R8350:Lrp8	UTSW	4	107,704,661 (GRCm39)	missense	probably benign
R8371:Lrp8	UTSW	4	107,726,268 (GRCm39)	missense	probably damaging	1.00
R9272:Lrp8	UTSW	4	107,717,158 (GRCm39)	missense	probably benign	0.19
R9461:Lrp8	UTSW	4	107,700,515 (GRCm39)	missense	possibly damaging	0.93
R9567:Lrp8	UTSW	4	107,711,469 (GRCm39)	missense	probably damaging	0.99
Z1177:Lrp8	UTSW	4	107,700,529 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCTGGCTTTAACAAATGCTGAAG -3'
(R):5'- CTAGGTTTAAGGCCCTCACTC -3'

Sequencing Primer
(F):5'- TCAAGTGCATAGGATGACTCC -3'
(R):5'- CCCCTCAGGCTCAGAGTG -3'

Posted On

2016-03-01