Mutagenetix > Incidental Mutations

Incidental Mutation 'R5165:Lrp12'

395668

Institutional Source

Beutler Lab

Gene Symbol

Lrp12

Ensembl Gene

ENSMUSG00000022305

Gene Name

low density lipoprotein-related protein 12

Synonyms

MMRRC Submission

042746-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R5165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39870589-39943994 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39872461 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 692 (S692P)

Ref Sequence

ENSEMBL: ENSMUSP00000105934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022916] [ENSMUST00000110305]

Predicted Effect

probably benign
Transcript: ENSMUST00000022916
AA Change: S711P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: S711P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
CUB	47	159	3.23e-28	SMART
LDLa	167	202	1.27e-11	SMART
LDLa	214	256	1.04e-7	SMART
CUB	259	372	9.88e-24	SMART
LDLa	374	412	2.6e-3	SMART
LDLa	413	450	2.36e-6	SMART
LDLa	451	487	5.1e-11	SMART
low complexity region	630	646	N/A	INTRINSIC
low complexity region	653	664	N/A	INTRINSIC
low complexity region	708	722	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110305
AA Change: S692P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: S692P

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CUB	28	140	3.23e-28	SMART
LDLa	148	183	1.27e-11	SMART
LDLa	195	237	1.04e-7	SMART
CUB	240	353	9.88e-24	SMART
LDLa	355	393	2.6e-3	SMART
LDLa	394	431	2.36e-6	SMART
LDLa	432	468	5.1e-11	SMART
low complexity region	611	627	N/A	INTRINSIC
low complexity region	634	645	N/A	INTRINSIC
low complexity region	689	703	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

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 related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,526,832	I77F	probably benign	Het
Actl6a	G	A	3: 32,720,208	V285I	probably benign	Het
Adam9	A	T	8: 24,967,174	I646N	possibly damaging	Het
Ahnak	T	C	19: 9,015,665	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,241,255	T223A	probably damaging	Het
Apc2	A	G	10: 80,315,850	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,581,789	I795T	probably benign	Het
Cdhr4	T	C	9: 107,997,630	L633P	probably damaging	Het
Cep350	A	G	1: 155,928,368	S990P	probably damaging	Het
Cplx2	A	G	13: 54,378,976	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 94,779,876	S170P	probably benign	Het
Cyth1	T	C	11: 118,169,082	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,939,215		probably null	Het
Dmwd	G	A	7: 19,078,035		probably benign	Het
Dsg1c	A	G	18: 20,277,023	H516R	probably damaging	Het
Efemp2	T	C	19: 5,475,411	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,777,657	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,956,012	V26A	probably damaging	Het
Gkap1	A	G	13: 58,263,196		probably null	Het
Gstcd	A	C	3: 133,084,679	V109G	probably damaging	Het
Hoxc9	T	A	15: 102,984,000	M215K	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kcnj9	A	T	1: 172,323,157	D296E	probably benign	Het
Kctd18	T	C	1: 57,959,236	Y68C	probably damaging	Het
Kif21a	A	T	15: 90,956,376	M1179K	probably benign	Het
Lrfn5	T	C	12: 61,839,624	I66T	possibly damaging	Het
Lrrc10	A	T	10: 117,046,060	N213I	probably benign	Het
Mettl11b	A	G	1: 163,722,523	I53T	probably benign	Het
Nceh1	G	A	3: 27,241,528	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,153,743	H53Q	probably damaging	Het
Nov	A	G	15: 54,749,189	D198G	probably damaging	Het
Olfr1276	T	A	2: 111,257,223	V36E	possibly damaging	Het
Olfr128	A	G	17: 37,924,361	D265G	probably benign	Het
Olfr1388	A	G	11: 49,444,376	H175R	probably damaging	Het
Olfr1447	A	T	19: 12,901,200	N193K	probably benign	Het
Oxct1	A	T	15: 4,053,769	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,675,670	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,967,925	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,678,272	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,465,912	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,846,822	S229T	possibly damaging	Het
Shank2	T	A	7: 144,409,636	V327D	possibly damaging	Het
Skint6	A	T	4: 112,865,668	V904E	possibly damaging	Het
Slfn8	A	T	11: 83,017,127	Y197N	probably damaging	Het
Smo	T	A	6: 29,736,078	L23Q	unknown	Het
Snx29	T	A	16: 11,420,775	M23K	probably damaging	Het
Synrg	T	C	11: 83,990,935	S366P	probably benign	Het
Tomm40	A	G	7: 19,713,667		probably null	Het
Tpcn1	T	C	5: 120,557,945	E81G	probably damaging	Het
Trappc1	A	G	11: 69,324,234	Q26R	probably benign	Het
Ttn	T	A	2: 76,776,556		probably null	Het
Usp25	T	A	16: 77,076,405	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,958,189	Y132*	probably null	Het

Other mutations in Lrp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01953:Lrp12	APN	15	39878101	missense	probably damaging	1.00
IGL02501:Lrp12	APN	15	39877904	missense	probably damaging	1.00
IGL02850:Lrp12	APN	15	39878575	missense	probably damaging	1.00
IGL03365:Lrp12	APN	15	39872521	missense	probably benign
R0010:Lrp12	UTSW	15	39878276	missense	probably damaging	1.00
R0047:Lrp12	UTSW	15	39878239	missense	probably damaging	1.00
R0416:Lrp12	UTSW	15	39878911	splice site	probably benign
R0840:Lrp12	UTSW	15	39876158	missense	probably damaging	1.00
R1053:Lrp12	UTSW	15	39877981	missense	probably damaging	1.00
R1158:Lrp12	UTSW	15	39878431	missense	probably damaging	1.00
R1288:Lrp12	UTSW	15	39878403	missense	probably damaging	1.00
R1350:Lrp12	UTSW	15	39878250	nonsense	probably null
R1416:Lrp12	UTSW	15	39878623	missense	probably damaging	1.00
R1548:Lrp12	UTSW	15	39872506	missense	probably damaging	0.99
R1691:Lrp12	UTSW	15	39872265	missense	probably damaging	1.00
R1696:Lrp12	UTSW	15	39878361	missense	probably damaging	0.99
R2050:Lrp12	UTSW	15	39872589	missense	probably damaging	0.99
R2513:Lrp12	UTSW	15	39876111	missense	probably damaging	1.00
R3415:Lrp12	UTSW	15	39878282	missense	probably damaging	1.00
R3417:Lrp12	UTSW	15	39878282	missense	probably damaging	1.00
R4118:Lrp12	UTSW	15	39877965	nonsense	probably null
R4167:Lrp12	UTSW	15	39885013	missense	probably damaging	1.00
R4214:Lrp12	UTSW	15	39872580	missense	probably benign	0.33
R4643:Lrp12	UTSW	15	39872022	missense	probably damaging	1.00
R5008:Lrp12	UTSW	15	39878456	missense	probably damaging	1.00
R5061:Lrp12	UTSW	15	39878254	missense	probably damaging	1.00
R5910:Lrp12	UTSW	15	39876043	intron	probably null
R6038:Lrp12	UTSW	15	39872380	missense	probably damaging	0.99
R6038:Lrp12	UTSW	15	39872380	missense	probably damaging	0.99
R6047:Lrp12	UTSW	15	39872067	missense	probably damaging	1.00
R6351:Lrp12	UTSW	15	39878188	missense	probably damaging	1.00
R6392:Lrp12	UTSW	15	39872019	missense	probably damaging	1.00
R7026:Lrp12	UTSW	15	39880170	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAATGTCCGAAGCTCCGTC -3'
(R):5'- GAGTCCGATGACACTGACACAG -3'

Sequencing Primer
(F):5'- GCTCCGTCTGAAACTGGAATTAGC -3'
(R):5'- GTCCGATGACACTGACACAGAAAATG -3'

Posted On

2016-06-21