Mutagenetix > Incidental Mutation

Incidental Mutation 'R0733:Lrp3'

67106

Institutional Source

Beutler Lab

Gene Symbol

Lrp3

Ensembl Gene

ENSMUSG00000001802

Gene Name

low density lipoprotein receptor-related protein 3

Synonyms

MMRRC Submission

038914-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R0733 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

34900303-34914791 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34901545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 758 (L758M)

Ref Sequence

ENSEMBL: ENSMUSP00000113406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001854] [ENSMUST00000118444] [ENSMUST00000122409] [ENSMUST00000131048] [ENSMUST00000167441]

AlphaFold

E9Q1T6

Predicted Effect

probably benign
Transcript: ENSMUST00000001854

SMART Domains

Protein: ENSMUSP00000001854
Gene: ENSMUSG00000030495

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC
Pfam:AA_permease_2	46	474	4.8e-65	PFAM
Pfam:AA_permease	51	467	9.3e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118444
AA Change: L758M

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802
AA Change: L758M

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
CUB	43	159	9.97e-20	SMART
LDLa	165	202	7.21e-11	SMART
LDLa	211	251	1.37e-11	SMART
CUB	254	365	1.98e-3	SMART
LDLa	367	414	1.85e-1	SMART
LDLa	415	453	4.44e-3	SMART
LDLa	454	490	8.74e-10	SMART
transmembrane domain	497	519	N/A	INTRINSIC
low complexity region	584	606	N/A	INTRINSIC
low complexity region	641	652	N/A	INTRINSIC
low complexity region	674	684	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122409
AA Change: L779M

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802
AA Change: L779M

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
CUB	64	180	9.97e-20	SMART
LDLa	186	223	7.21e-11	SMART
LDLa	232	272	1.37e-11	SMART
CUB	275	386	1.98e-3	SMART
LDLa	388	435	1.85e-1	SMART
LDLa	436	474	4.44e-3	SMART
LDLa	475	511	8.74e-10	SMART
transmembrane domain	518	540	N/A	INTRINSIC
low complexity region	605	627	N/A	INTRINSIC
low complexity region	662	673	N/A	INTRINSIC
low complexity region	695	705	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131048

SMART Domains

Protein: ENSMUSP00000118331
Gene: ENSMUSG00000030495

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC
Pfam:AA_permease_2	46	346	8.6e-48	PFAM
Pfam:AA_permease	51	346	1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155404

Predicted Effect

probably benign
Transcript: ENSMUST00000167441

SMART Domains

Protein: ENSMUSP00000129954
Gene: ENSMUSG00000030495

Domain	Start	End	E-Value	Type
low complexity region	14	37	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	A	G	2: 31,668,957 (GRCm39)	Y88C	probably damaging	Het
Acbd3	A	G	1: 180,579,783 (GRCm39)	I476V	possibly damaging	Het
Apba2	T	C	7: 64,399,912 (GRCm39)	I689T	probably damaging	Het
AU018091	A	G	7: 3,209,001 (GRCm39)	Y362H	probably damaging	Het
Castor2	T	C	5: 134,165,054 (GRCm39)	F208L	possibly damaging	Het
Cdh26	T	C	2: 178,128,724 (GRCm39)	S759P	probably damaging	Het
Clcc1	A	G	3: 108,582,056 (GRCm39)	Q387R	probably benign	Het
Cobl	C	T	11: 12,315,167 (GRCm39)	G259R	probably benign	Het
Col4a1	C	T	8: 11,268,934 (GRCm39)	R968Q	possibly damaging	Het
Ddr2	A	G	1: 169,832,381 (GRCm39)		probably benign	Het
Dera	C	A	6: 137,773,846 (GRCm39)	N201K	probably damaging	Het
Dsg1a	A	C	18: 20,471,725 (GRCm39)	E659A	probably damaging	Het
Dus2	G	T	8: 106,772,702 (GRCm39)		probably null	Het
Ears2	T	A	7: 121,647,352 (GRCm39)	I311F	possibly damaging	Het
Eml4	T	A	17: 83,761,893 (GRCm39)	M417K	possibly damaging	Het
Exosc4	A	T	15: 76,213,616 (GRCm39)	M147L	probably benign	Het
Fam171a2	T	A	11: 102,330,548 (GRCm39)	Y278F	possibly damaging	Het
Fastk	A	C	5: 24,648,921 (GRCm39)	H155Q	probably null	Het
Fem1b	G	T	9: 62,704,125 (GRCm39)	N378K	possibly damaging	Het
Fut11	C	A	14: 20,745,427 (GRCm39)	Y119*	probably null	Het
Gm6797	T	C	X: 8,511,388 (GRCm39)		noncoding transcript	Het
Gstt4	T	C	10: 75,653,148 (GRCm39)	D138G	probably benign	Het
Hprt1	G	A	X: 52,091,027 (GRCm39)	C66Y	probably damaging	Het
Inpp5d	T	A	1: 87,595,799 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,547,108 (GRCm39)	S621T	probably benign	Het
Ints6l	C	G	X: 55,550,172 (GRCm39)	A699G	probably benign	Het
Kctd3	A	G	1: 188,729,247 (GRCm39)		probably benign	Het
Kntc1	G	T	5: 123,928,979 (GRCm39)	V1252L	probably null	Het
Lama5	A	T	2: 179,822,511 (GRCm39)	M2854K	possibly damaging	Het
Lcn5	G	T	2: 25,551,113 (GRCm39)	L187F	probably damaging	Het
Ltn1	T	A	16: 87,209,395 (GRCm39)	I740F	probably benign	Het
Mcm5	A	G	8: 75,853,876 (GRCm39)	K710R	probably benign	Het
Mllt10	A	G	2: 18,208,577 (GRCm39)		probably benign	Het
Nbr1	T	A	11: 101,467,197 (GRCm39)	M864K	probably benign	Het
Nkiras2	T	C	11: 100,515,758 (GRCm39)		probably null	Het
Nlrp4d	T	A	7: 10,116,449 (GRCm39)	E144V	probably benign	Het
Nppc	T	C	1: 86,597,356 (GRCm39)		probably benign	Het
Ormdl2	T	A	10: 128,655,868 (GRCm39)	Q94L	probably damaging	Het
Paox	G	C	7: 139,707,440 (GRCm39)	D88H	probably damaging	Het
Prl7a2	T	C	13: 27,846,671 (GRCm39)	E114G	probably damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Prss54	T	C	8: 96,286,368 (GRCm39)	D235G	possibly damaging	Het
Rwdd3	T	C	3: 120,965,256 (GRCm39)	M24V	probably benign	Het
Serpinb6e	T	A	13: 34,025,201 (GRCm39)	N30I	probably benign	Het
Sh3rf1	G	A	8: 61,825,594 (GRCm39)	A530T	probably benign	Het
Slc28a1	T	C	7: 80,774,648 (GRCm39)	I165T	probably benign	Het
Slco6d1	T	A	1: 98,355,994 (GRCm39)	L143*	probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Snx27	A	G	3: 94,469,320 (GRCm39)	L7P	probably benign	Het
Spata31e2	T	A	1: 26,722,013 (GRCm39)	T1056S	possibly damaging	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
St8sia2	C	T	7: 73,610,588 (GRCm39)	G232S	probably benign	Het
Sun1	A	G	5: 139,216,918 (GRCm39)	H255R	possibly damaging	Het
Tent2	T	A	13: 93,291,547 (GRCm39)	Q365L	probably benign	Het
Ube2k	A	G	5: 65,738,795 (GRCm39)	I95V	probably damaging	Het
Ube2m	C	A	7: 12,769,679 (GRCm39)	E126D	probably damaging	Het
Vmn2r27	A	T	6: 124,169,147 (GRCm39)	M661K	probably benign	Het
Wdr47	A	T	3: 108,525,939 (GRCm39)	D154V	probably damaging	Het
Zfp113	A	G	5: 138,143,845 (GRCm39)	V135A	probably benign	Het

Other mutations in Lrp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Lrp3	APN	7	34,905,453 (GRCm39)	splice site	probably benign
IGL01714:Lrp3	APN	7	34,905,496 (GRCm39)	splice site	probably null
IGL03033:Lrp3	APN	7	34,902,052 (GRCm39)	missense	possibly damaging	0.61
IGL03166:Lrp3	APN	7	34,901,905 (GRCm39)	missense	probably benign	0.00
Blackball	UTSW	7	34,905,477 (GRCm39)	missense	probably damaging	1.00
lowball	UTSW	7	34,903,593 (GRCm39)	missense	probably benign	0.00
PIT4434001:Lrp3	UTSW	7	34,903,420 (GRCm39)	missense	probably damaging	0.99
R0416:Lrp3	UTSW	7	34,901,778 (GRCm39)	missense	probably benign
R0907:Lrp3	UTSW	7	34,902,718 (GRCm39)	missense	probably damaging	0.99
R1437:Lrp3	UTSW	7	34,912,595 (GRCm39)	missense	probably damaging	1.00
R1591:Lrp3	UTSW	7	34,901,790 (GRCm39)	missense	probably benign	0.03
R1625:Lrp3	UTSW	7	34,903,350 (GRCm39)	missense	probably damaging	1.00
R1703:Lrp3	UTSW	7	34,912,586 (GRCm39)	missense	possibly damaging	0.95
R3976:Lrp3	UTSW	7	34,903,530 (GRCm39)	missense	probably benign	0.06
R4196:Lrp3	UTSW	7	34,902,835 (GRCm39)	missense	probably damaging	1.00
R4679:Lrp3	UTSW	7	34,903,365 (GRCm39)	missense	probably damaging	1.00
R5686:Lrp3	UTSW	7	34,902,910 (GRCm39)	missense	possibly damaging	0.84
R5836:Lrp3	UTSW	7	34,902,747 (GRCm39)	missense	probably damaging	1.00
R6160:Lrp3	UTSW	7	34,903,548 (GRCm39)	missense	possibly damaging	0.79
R6342:Lrp3	UTSW	7	34,901,731 (GRCm39)	missense	probably benign	0.01
R6364:Lrp3	UTSW	7	34,903,134 (GRCm39)	missense	probably benign	0.03
R6415:Lrp3	UTSW	7	34,903,593 (GRCm39)	missense	probably benign	0.00
R6502:Lrp3	UTSW	7	34,903,413 (GRCm39)	missense	possibly damaging	0.89
R6747:Lrp3	UTSW	7	34,910,862 (GRCm39)	missense	probably benign
R7205:Lrp3	UTSW	7	34,902,051 (GRCm39)	missense	probably damaging	0.99
R7232:Lrp3	UTSW	7	34,905,477 (GRCm39)	missense	probably damaging	1.00
R7522:Lrp3	UTSW	7	34,903,755 (GRCm39)	missense	probably damaging	0.99
R7870:Lrp3	UTSW	7	34,910,922 (GRCm39)	missense	probably damaging	0.99
R7963:Lrp3	UTSW	7	34,902,404 (GRCm39)	nonsense	probably null
R9094:Lrp3	UTSW	7	34,903,182 (GRCm39)	missense	probably damaging	1.00
R9242:Lrp3	UTSW	7	34,901,934 (GRCm39)	missense	probably benign	0.01
R9474:Lrp3	UTSW	7	34,903,489 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrp3	UTSW	7	34,902,437 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCAGAGCAATTTGCTGGGAGAC -3'
(R):5'- ACCCTTAAATCTGCGAGACCCAGAG -3'

Sequencing Primer
(F):5'- ATGCTCATGCTGATCTCAGAG -3'
(R):5'- CTGCGAGACCCAGAGTACAG -3'

Posted On

2013-09-03