Mutagenetix > Incidental Mutations

Incidental Mutation 'R1437:Lrp3'

161294

Institutional Source

Beutler Lab

Gene Symbol

Lrp3

Ensembl Gene

ENSMUSG00000001802

Gene Name

low density lipoprotein receptor-related protein 3

Synonyms

MMRRC Submission

039492-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R1437 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35200027-35215498 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35213170 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 31 (G31W)

Ref Sequence

ENSEMBL: ENSMUSP00000114026 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118444
AA Change: G31W

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

SMART Domains

Protein: ENSMUSP00000113406
Gene: ENSMUSG00000001802
AA Change: G31W

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

probably damaging
Transcript: ENSMUST00000122409
AA Change: G31W

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

SMART Domains

Protein: ENSMUSP00000114026
Gene: ENSMUSG00000001802
AA Change: G31W

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

noncoding transcript
Transcript: ENSMUST00000157682

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,942,429	H1097N	possibly damaging	Het
Abcb1b	T	A	5: 8,821,436	V330E	possibly damaging	Het
Abcb5	A	G	12: 118,874,762	S1022P	probably damaging	Het
Abcc8	A	G	7: 46,179,813	I46T	probably damaging	Het
Add3	A	G	19: 53,233,678	R275G	probably damaging	Het
Akap1	C	A	11: 88,844,751	G362*	probably null	Het
Arhgef4	A	G	1: 34,723,945	T761A	unknown	Het
Asap1	A	T	15: 64,120,107	L751Q	probably damaging	Het
Atg2a	C	A	19: 6,250,616	P741H	probably damaging	Het
Atxn10	T	C	15: 85,359,474	I46T	possibly damaging	Het
BC049715	C	A	6: 136,840,092	A110E	probably damaging	Het
Btbd7	T	A	12: 102,788,090	T806S	possibly damaging	Het
Cdk4	C	A	10: 127,064,689	P108H	probably damaging	Het
Cep290	A	G	10: 100,572,101	T2391A	probably benign	Het
Col6a3	G	T	1: 90,801,376	A1281E	probably damaging	Het
Cpa5	A	T	6: 30,624,655	I165F	probably damaging	Het
Ctdp1	G	T	18: 80,450,213	Q356K	probably benign	Het
Ddx21	A	G	10: 62,598,590	M130T	unknown	Het
Epha5	T	G	5: 84,233,696	D432A	probably damaging	Het
Esr1	ACGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACGCCGCCGCCGCCGCCGCCGCCGCC	10: 4,712,571		probably benign	Het
Fads2	A	T	19: 10,091,829	L77Q	probably benign	Het
Fbn2	A	T	18: 58,053,659	H1723Q	possibly damaging	Het
Fbxo42	C	T	4: 141,167,854	H43Y	probably benign	Het
Fry	A	G	5: 150,310,425	T121A	possibly damaging	Het
Gpr156	T	G	16: 37,988,542	S209A	probably damaging	Het
Hey2	T	C	10: 30,833,849	T303A	probably benign	Het
Hivep1	T	A	13: 42,157,140	M952K	probably benign	Het
Hrasls	C	A	16: 29,228,170	A147E	possibly damaging	Het
Hydin	C	T	8: 110,581,985	Q3968*	probably null	Het
Jup	T	C	11: 100,383,576	E96G	probably benign	Het
Kcnn1	A	G	8: 70,844,551	I504T	probably benign	Het
Klk1b9	T	C	7: 43,979,690	V174A	probably damaging	Het
Lama3	G	C	18: 12,549,227	M1083I	possibly damaging	Het
Lcmt2	A	G	2: 121,138,896	S569P	probably benign	Het
Lrfn2	T	C	17: 49,071,225	S445P	probably damaging	Het
Lrrc8b	T	C	5: 105,481,702	L638P	probably damaging	Het
Mief2	C	T	11: 60,730,943	T113M	probably benign	Het
Mrps2	T	C	2: 28,468,887	F76S	probably damaging	Het
Naca	A	G	10: 128,042,179		probably benign	Het
Ndst4	C	A	3: 125,561,450	R336S	probably damaging	Het
Nr1i3	CACTCAACACTAC	CAC	1: 171,217,141		probably null	Het
Nr5a1	T	A	2: 38,710,673	T29S	probably benign	Het
Olfr1111	C	T	2: 87,149,771	V297M	possibly damaging	Het
Olfr993	T	C	2: 85,414,874	I2V	probably benign	Het
Pald1	A	G	10: 61,341,285	F662S	possibly damaging	Het
Pdcd4	G	T	19: 53,909,243	A59S	probably damaging	Het
Pde4a	T	C	9: 21,192,592		probably null	Het
Pkd1	T	A	17: 24,595,132	S4159T	probably damaging	Het
Plch1	C	A	3: 63,697,533	R1641L	probably benign	Het
Plec	G	T	15: 76,189,281	P308Q	probably damaging	Het
Pnkp	A	G	7: 44,860,402	S262G	possibly damaging	Het
Pou2f1	A	G	1: 165,891,830	V504A	probably damaging	Het
Prepl	G	A	17: 85,088,357	R66W	probably damaging	Het
Rasgrf2	T	C	13: 92,030,888	K226E	probably damaging	Het
Ror1	T	A	4: 100,412,109	F381L	probably benign	Het
Sbsn	C	T	7: 30,753,053	Q498*	probably null	Het
Scgb2b19	T	C	7: 33,278,555	I106V	probably benign	Het
Sf3a2	G	A	10: 80,804,206		probably benign	Het
Sis	T	C	3: 72,934,142	H780R	probably damaging	Het
Slc28a3	G	T	13: 58,558,575	C617*	probably null	Het
Slc44a1	T	A	4: 53,561,006	V574D	probably damaging	Het
Slc8a3	T	A	12: 81,315,986	T20S	probably damaging	Het
Stt3b	T	A	9: 115,254,927	I394F	probably damaging	Het
Ubap1l	T	A	9: 65,372,055	V212D	possibly damaging	Het
Ugt2b35	T	C	5: 87,001,031	V47A	probably benign	Het
Vmn2r114	A	G	17: 23,291,211	F765S	probably damaging	Het
Vps50	C	T	6: 3,517,852	Q97*	probably null	Het
Vsig10	A	G	5: 117,351,570	Q467R	probably damaging	Het
Wdsub1	T	G	2: 59,878,133	Y11S	probably damaging	Het
Zbtb11	T	G	16: 55,991,620		probably null	Het

Other mutations in Lrp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00656:Lrp3	APN	7	35206028	splice site	probably benign
IGL01714:Lrp3	APN	7	35206071	splice site	probably null
IGL03033:Lrp3	APN	7	35202627	missense	possibly damaging	0.61
IGL03166:Lrp3	APN	7	35202480	missense	probably benign	0.00
Blackball	UTSW	7	35206052	missense	probably damaging	1.00
lowball	UTSW	7	35204168	missense	probably benign	0.00
PIT4434001:Lrp3	UTSW	7	35203995	missense	probably damaging	0.99
R0416:Lrp3	UTSW	7	35202353	missense	probably benign
R0733:Lrp3	UTSW	7	35202120	missense	possibly damaging	0.93
R0907:Lrp3	UTSW	7	35203293	missense	probably damaging	0.99
R1591:Lrp3	UTSW	7	35202365	missense	probably benign	0.03
R1625:Lrp3	UTSW	7	35203925	missense	probably damaging	1.00
R1703:Lrp3	UTSW	7	35213161	missense	possibly damaging	0.95
R3976:Lrp3	UTSW	7	35204105	missense	probably benign	0.06
R4196:Lrp3	UTSW	7	35203410	missense	probably damaging	1.00
R4679:Lrp3	UTSW	7	35203940	missense	probably damaging	1.00
R5686:Lrp3	UTSW	7	35203485	missense	possibly damaging	0.84
R5836:Lrp3	UTSW	7	35203322	missense	probably damaging	1.00
R6160:Lrp3	UTSW	7	35204123	missense	possibly damaging	0.79
R6342:Lrp3	UTSW	7	35202306	missense	probably benign	0.01
R6364:Lrp3	UTSW	7	35203709	missense	probably benign	0.03
R6415:Lrp3	UTSW	7	35204168	missense	probably benign	0.00
R6502:Lrp3	UTSW	7	35203988	missense	possibly damaging	0.89
R6747:Lrp3	UTSW	7	35211437	missense	probably benign
R7205:Lrp3	UTSW	7	35202626	missense	probably damaging	0.99
R7232:Lrp3	UTSW	7	35206052	missense	probably damaging	1.00
R7522:Lrp3	UTSW	7	35204330	missense	probably damaging	0.99
R7870:Lrp3	UTSW	7	35211497	missense	probably damaging	0.99
R7963:Lrp3	UTSW	7	35202979	nonsense	probably null
Z1177:Lrp3	UTSW	7	35203012	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGCATCCAGTGTCCCTAAGGAAC -3'
(R):5'- CCTTTGCCTGTCCCAGAAGGAATG -3'

Sequencing Primer
(F):5'- TGCTTCAATGGACCCTAACGG -3'
(R):5'- CCCAGAAGGAATGGCGGTG -3'

Posted On

2014-03-14