Mutagenetix > Incidental Mutations

Incidental Mutation 'R6845:Lrp10'

534735

Institutional Source

Beutler Lab

Gene Symbol

Lrp10

Ensembl Gene

ENSMUSG00000022175

Gene Name

low-density lipoprotein receptor-related protein 10

Synonyms

Lrp9

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54464137-54471497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 54469688 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 661 (R661C)

Ref Sequence

ENSEMBL: ENSMUSP00000022782 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022782
AA Change: R661C

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

SMART Domains

Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: R661C

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

probably benign
Transcript: ENSMUST00000227760

Predicted Effect

probably benign
Transcript: ENSMUST00000228407

Meta Mutation Damage Score

0.5161

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,221,904	S1887P	possibly damaging	Het
Adam6a	T	C	12: 113,544,097	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,721,508	R1099W	probably damaging	Het
Cdon	C	T	9: 35,486,956	Q990*	probably null	Het
Cit	T	A	5: 115,984,888	L1421Q	probably damaging	Het
Ddx27	T	C	2: 167,022,096	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,416,563	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,133,542	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Duoxa1	A	T	2: 122,305,191	Y142*	probably null	Het
F3	A	G	3: 121,732,475	K229R	probably benign	Het
Fance	A	G	17: 28,317,591	R42G	probably damaging	Het
Foxs1	T	C	2: 152,932,699	K145E	probably benign	Het
Gm5538	C	A	3: 59,752,118	P331T	probably damaging	Het
Gpd1l	T	C	9: 114,933,717	M1V	probably null	Het
Gpr149	T	A	3: 62,604,521	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 119,701,138	Y213H	probably damaging	Het
Htra1	C	A	7: 130,936,291		probably benign	Het
Il20ra	A	G	10: 19,759,311	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517		probably null	Het
Kif11	C	T	19: 37,404,117	L499F	probably damaging	Het
Kifc3	A	G	8: 95,108,679	M189T	probably benign	Het
Klk1b3	G	A	7: 44,201,703	A187T	probably benign	Het
Klre1	T	C	6: 129,584,239	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,809,366		probably benign	Het
Lgi4	A	T	7: 31,061,085	T22S	probably damaging	Het
Lrrtm1	A	G	6: 77,243,881	D107G	probably benign	Het
Mad1l1	C	A	5: 140,009,169	A701S	probably damaging	Het
Mia2	T	A	12: 59,184,278	Y1237*	probably null	Het
Mpp4	T	C	1: 59,144,804	D278G	probably benign	Het
Myh6	G	A	14: 54,944,749	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,281,310	R2021*	probably null	Het
Nol4l	T	C	2: 153,416,662	T602A	probably benign	Het
Olfr1463	T	A	19: 13,234,633	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,630,633	H894L	probably benign	Het
Phldb1	A	T	9: 44,716,062	I362N	probably damaging	Het
Plcxd2	T	A	16: 46,009,860		probably benign	Het
Ppp1r13l	G	T	7: 19,371,398	R365L	probably damaging	Het
Pramef25	T	C	4: 143,949,824	T237A	probably benign	Het
Rfc1	A	T	5: 65,311,116	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,342	V196A	possibly damaging	Het
Shank3	T	C	15: 89,548,325	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,979,640	D73G	probably benign	Het
Slc34a2	T	A	5: 53,069,169	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000	M810K	probably damaging	Het
Ss18	A	T	18: 14,655,164	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,599,332	R94G	probably damaging	Het
Tpp2	T	A	1: 43,978,508	C757*	probably null	Het
Trav13n-4	T	C	14: 53,362,399	L11P	probably damaging	Het
Trpm4	T	C	7: 45,322,329	M138V	possibly damaging	Het
Utp18	G	A	11: 93,885,756		probably benign	Het
Vps33a	A	G	5: 123,535,272	V417A	probably benign	Het
Zfp207	C	T	11: 80,395,491		probably benign	Het

Other mutations in Lrp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Lrp10	APN	14	54468662	nonsense	probably null
IGL02641:Lrp10	APN	14	54468611	nonsense	probably null
IGL02697:Lrp10	APN	14	54469697	missense	probably damaging	1.00
IGL02974:Lrp10	APN	14	54467884	nonsense	probably null
IGL03030:Lrp10	APN	14	54469162	missense	possibly damaging	0.69
chowmein	UTSW	14	54468090	missense	probably damaging	1.00
egg_fu_young	UTSW	14	54469266	missense	possibly damaging	0.66
R0452:Lrp10	UTSW	14	54467579	missense	probably benign	0.08
R0765:Lrp10	UTSW	14	54468090	missense	probably damaging	1.00
R1700:Lrp10	UTSW	14	54469752	missense	possibly damaging	0.94
R1726:Lrp10	UTSW	14	54469656	missense	probably damaging	0.99
R2943:Lrp10	UTSW	14	54469845	unclassified	probably benign
R3746:Lrp10	UTSW	14	54469266	missense	possibly damaging	0.66
R3749:Lrp10	UTSW	14	54469266	missense	possibly damaging	0.66
R4356:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4357:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4358:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4379:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4380:Lrp10	UTSW	14	54468366	missense	probably damaging	0.98
R4751:Lrp10	UTSW	14	54468592	missense	probably damaging	1.00
R5055:Lrp10	UTSW	14	54468345	missense	probably benign	0.00
R5133:Lrp10	UTSW	14	54469610	missense	probably benign
R6633:Lrp10	UTSW	14	54469074	missense	probably benign	0.03
R6874:Lrp10	UTSW	14	54468213	missense	possibly damaging	0.50
R6958:Lrp10	UTSW	14	54469821	unclassified	probably benign
R6989:Lrp10	UTSW	14	54468493	missense	probably benign	0.30
R7162:Lrp10	UTSW	14	54465706	missense	possibly damaging	0.60
R7453:Lrp10	UTSW	14	54468456	missense	probably damaging	1.00
R7600:Lrp10	UTSW	14	54469395	missense	possibly damaging	0.93
X0026:Lrp10	UTSW	14	54469399	nonsense	probably null
X0027:Lrp10	UTSW	14	54468535	missense	probably damaging	1.00
Z1088:Lrp10	UTSW	14	54467922	missense	probably benign	0.01
Z1177:Lrp10	UTSW	14	54467561

Predicted Primers

PCR Primer
(F):5'- GAACTAATACCCCAGCTCGG -3'
(R):5'- TTGTGCCTAGAGTCCCTCAG -3'

Sequencing Primer
(F):5'- TGAGACCAGATCCCAGGTC -3'
(R):5'- GGCAAGCAATGGTTCATCCTCTG -3'

Posted On

2018-09-12