Mutagenetix > Incidental Mutation

Incidental Mutation 'R4357:Lrp10'

324626

Institutional Source

Beutler Lab

Gene Symbol

Lrp10

Ensembl Gene

ENSMUSG00000022175

Gene Name

low-density lipoprotein receptor-related protein 10

Synonyms

Lrp9

MMRRC Submission

041109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4357 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

54701260-54707749 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54705823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 338 (R338C)

Ref Sequence

ENSEMBL: ENSMUSP00000022782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022782] [ENSMUST00000227760]

AlphaFold

Q7TQH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000022782
AA Change: R338C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: R338C

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
CUB	29	137	5.33e-2	SMART
LDLa	140	177	5.26e-13	SMART
CUB	193	306	2.57e-4	SMART
LDLa	308	356	1.05e-3	SMART
LDLa	357	399	4.89e-2	SMART
LDLa	400	436	1.63e-9	SMART
transmembrane domain	442	464	N/A	INTRINSIC
low complexity region	544	569	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC
low complexity region	634	655	N/A	INTRINSIC
low complexity region	672	681	N/A	INTRINSIC
low complexity region	685	710	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226472

Predicted Effect

probably benign
Transcript: ENSMUST00000227760

Predicted Effect

probably benign
Transcript: ENSMUST00000228407

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,248,084 (GRCm39)	T65A	possibly damaging	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Ap4m1	A	G	5: 138,171,311 (GRCm39)	E125G	probably damaging	Het
Atp13a2	C	A	4: 140,729,215 (GRCm39)	D599E	probably benign	Het
Brme1	T	C	8: 84,886,221 (GRCm39)	L59P	probably benign	Het
Camkv	G	A	9: 107,825,145 (GRCm39)	G354E	probably benign	Het
Casp8ap2	T	A	4: 32,646,150 (GRCm39)	M1741K	probably benign	Het
Chtf18	T	C	17: 25,938,106 (GRCm39)	D119G	probably benign	Het
Cnga1	T	A	5: 72,775,595 (GRCm39)	D42V	probably damaging	Het
Cysltr2	T	C	14: 73,267,084 (GRCm39)	I209V	probably benign	Het
Defa27	A	T	8: 21,805,608 (GRCm39)	Q16L	probably null	Het
Dnaja3	T	C	16: 4,517,731 (GRCm39)	I321T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif2ak3	T	A	6: 70,861,859 (GRCm39)	I467N	probably damaging	Het
Eif5b	T	A	1: 38,089,339 (GRCm39)	V1105E	probably damaging	Het
Gfod2	T	C	8: 106,444,177 (GRCm39)	N122S	possibly damaging	Het
Gm10803	A	G	2: 93,394,350 (GRCm39)	R41G	unknown	Het
Gm38392	A	T	3: 88,154,741 (GRCm39)	I221N	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hsd17b6	G	T	10: 127,829,637 (GRCm39)		probably null	Het
Ids	C	A	X: 69,389,950 (GRCm39)	G506C	probably damaging	Het
Ifna15	G	T	4: 88,476,079 (GRCm39)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827 (GRCm39)		probably null	Het
Lats2	A	G	14: 57,936,840 (GRCm39)	S550P	probably damaging	Het
Lmo7	A	G	14: 102,125,091 (GRCm39)	R406G	probably null	Het
Lpcat2	C	A	8: 93,599,734 (GRCm39)	P234Q	probably benign	Het
Lrrfip2	A	G	9: 111,028,755 (GRCm39)	E326G	probably damaging	Het
Megf8	T	A	7: 25,055,174 (GRCm39)	I1969N	probably benign	Het
Mib1	A	G	18: 10,751,844 (GRCm39)	N242S	probably benign	Het
Ngf	A	G	3: 102,427,521 (GRCm39)	E94G	probably benign	Het
Oas2	C	T	5: 120,876,734 (GRCm39)		probably null	Het
Odf2	A	G	2: 29,782,256 (GRCm39)	T75A	probably benign	Het
Or4f60	A	G	2: 111,902,583 (GRCm39)	L115P	probably damaging	Het
Or5w11	T	A	2: 87,458,810 (GRCm39)	M1K	probably null	Het
Pi4ka	T	A	16: 17,185,303 (GRCm39)	I266F	probably benign	Het
Prps2	T	A	X: 166,146,545 (GRCm39)	K176*	probably null	Het
Psmd2	T	G	16: 20,475,402 (GRCm39)	D393E	probably benign	Het
Rabep2	A	G	7: 126,047,397 (GRCm39)	I753T	probably damaging	Het
Rara	A	C	11: 98,858,937 (GRCm39)	I129L	probably damaging	Het
Rasgrf2	C	A	13: 92,038,796 (GRCm39)	D1017Y	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Spmip4	T	C	6: 50,551,190 (GRCm39)	T420A	probably benign	Het
Spsb1	T	C	4: 149,991,232 (GRCm39)	H112R	probably damaging	Het
Sptlc1	A	T	13: 53,528,068 (GRCm39)	I32K	probably damaging	Het
Srd5a3	T	A	5: 76,295,547 (GRCm39)	F79Y	probably damaging	Het
Ssrp1	A	T	2: 84,871,495 (GRCm39)	M306L	probably benign	Het
Sulf2	T	C	2: 165,919,497 (GRCm39)	E817G	probably benign	Het
Tiam2	C	A	17: 3,501,128 (GRCm39)	D922E	probably damaging	Het
Tle4	A	G	19: 14,445,625 (GRCm39)	V207A	probably benign	Het
Ttll12	A	T	15: 83,465,958 (GRCm39)	C413S	probably damaging	Het
Usp45	T	A	4: 21,834,350 (GRCm39)	Y809*	probably null	Het
Vmn2r59	G	A	7: 41,661,644 (GRCm39)	P724S	probably damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het

Other mutations in Lrp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Lrp10	APN	14	54,706,119 (GRCm39)	nonsense	probably null
IGL02641:Lrp10	APN	14	54,706,068 (GRCm39)	nonsense	probably null
IGL02697:Lrp10	APN	14	54,707,154 (GRCm39)	missense	probably damaging	1.00
IGL02974:Lrp10	APN	14	54,705,341 (GRCm39)	nonsense	probably null
IGL03030:Lrp10	APN	14	54,706,619 (GRCm39)	missense	possibly damaging	0.69
chowmein	UTSW	14	54,705,547 (GRCm39)	missense	probably damaging	1.00
egg_fu_young	UTSW	14	54,706,723 (GRCm39)	missense	possibly damaging	0.66
R0452:Lrp10	UTSW	14	54,705,036 (GRCm39)	missense	probably benign	0.08
R0765:Lrp10	UTSW	14	54,705,547 (GRCm39)	missense	probably damaging	1.00
R1700:Lrp10	UTSW	14	54,707,209 (GRCm39)	missense	possibly damaging	0.94
R1726:Lrp10	UTSW	14	54,707,113 (GRCm39)	missense	probably damaging	0.99
R2943:Lrp10	UTSW	14	54,707,302 (GRCm39)	unclassified	probably benign
R3746:Lrp10	UTSW	14	54,706,723 (GRCm39)	missense	possibly damaging	0.66
R3749:Lrp10	UTSW	14	54,706,723 (GRCm39)	missense	possibly damaging	0.66
R4356:Lrp10	UTSW	14	54,705,823 (GRCm39)	missense	probably damaging	0.98
R4358:Lrp10	UTSW	14	54,705,823 (GRCm39)	missense	probably damaging	0.98
R4379:Lrp10	UTSW	14	54,705,823 (GRCm39)	missense	probably damaging	0.98
R4380:Lrp10	UTSW	14	54,705,823 (GRCm39)	missense	probably damaging	0.98
R4751:Lrp10	UTSW	14	54,706,049 (GRCm39)	missense	probably damaging	1.00
R5055:Lrp10	UTSW	14	54,705,802 (GRCm39)	missense	probably benign	0.00
R5133:Lrp10	UTSW	14	54,707,067 (GRCm39)	missense	probably benign
R6633:Lrp10	UTSW	14	54,706,531 (GRCm39)	missense	probably benign	0.03
R6845:Lrp10	UTSW	14	54,707,145 (GRCm39)	missense	probably damaging	1.00
R6874:Lrp10	UTSW	14	54,705,670 (GRCm39)	missense	possibly damaging	0.50
R6958:Lrp10	UTSW	14	54,707,278 (GRCm39)	unclassified	probably benign
R6989:Lrp10	UTSW	14	54,705,950 (GRCm39)	missense	probably benign	0.30
R7162:Lrp10	UTSW	14	54,703,163 (GRCm39)	missense	possibly damaging	0.60
R7453:Lrp10	UTSW	14	54,705,913 (GRCm39)	missense	probably damaging	1.00
R7600:Lrp10	UTSW	14	54,706,852 (GRCm39)	missense	possibly damaging	0.93
R9087:Lrp10	UTSW	14	54,705,621 (GRCm39)	missense	probably damaging	0.99
X0026:Lrp10	UTSW	14	54,706,856 (GRCm39)	nonsense	probably null
X0027:Lrp10	UTSW	14	54,705,992 (GRCm39)	missense	probably damaging	1.00
Z1088:Lrp10	UTSW	14	54,705,379 (GRCm39)	missense	probably benign	0.01
Z1177:Lrp10	UTSW	14	54,705,018 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

Posted On

2015-06-24