Mutagenetix > Incidental Mutation

Incidental Mutation 'R2050:Lrp12'

226360

Institutional Source

Beutler Lab

Gene Symbol

Lrp12

Ensembl Gene

ENSMUSG00000022305

Gene Name

low density lipoprotein-related protein 12

Synonyms

C820005L12Rik

MMRRC Submission

040057-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R2050 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39733985-39807390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39735985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 649 (S649L)

Ref Sequence

ENSEMBL: ENSMUSP00000105934 (fasta)

Gene Model

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

AlphaFold

Q8BUJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000022916
AA Change: S668L

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: S668L

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 damaging
Transcript: ENSMUST00000110305
AA Change: S649L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: S649L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	G	T	10: 126,916,130 (GRCm39)	E214*	probably null	Het
Angpt2	G	T	8: 18,755,673 (GRCm39)	P265T	probably benign	Het
Apc2	C	A	10: 80,143,443 (GRCm39)		probably null	Het
Arpc1b	C	T	5: 145,062,729 (GRCm39)	P250S	probably damaging	Het
Atxn10	T	G	15: 85,249,513 (GRCm39)	V115G	probably benign	Het
Bace2	T	A	16: 97,213,336 (GRCm39)	C100S	probably damaging	Het
Bpifb9b	T	C	2: 154,151,524 (GRCm39)	S82P	possibly damaging	Het
Cacna1g	A	G	11: 94,300,300 (GRCm39)	S2157P	probably damaging	Het
Cacnb4	T	A	2: 52,359,598 (GRCm39)	I104L	probably damaging	Het
Ccdc121	T	C	5: 31,643,402 (GRCm39)	I44T	possibly damaging	Het
Cdh6	T	A	15: 13,057,587 (GRCm39)	M245L	probably benign	Het
Celsr1	A	C	15: 85,914,748 (GRCm39)	V1075G	probably benign	Het
Cfap61	T	C	2: 145,987,393 (GRCm39)	F1065L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Colgalt1	T	C	8: 72,070,330 (GRCm39)		probably null	Het
Ctnnal1	A	T	4: 56,835,350 (GRCm39)	V309D	probably benign	Het
D7Ertd443e	T	A	7: 133,868,527 (GRCm39)	E659D	probably damaging	Het
Dab2	T	C	15: 6,464,696 (GRCm39)	Y516H	possibly damaging	Het
Dnah14	T	C	1: 181,580,127 (GRCm39)	L3099P	probably damaging	Het
Frem3	A	G	8: 81,341,520 (GRCm39)	E1271G	probably damaging	Het
Grap2	A	G	15: 80,530,444 (GRCm39)	H188R	probably benign	Het
Grin2c	T	C	11: 115,148,245 (GRCm39)	D344G	possibly damaging	Het
Hmcn2	T	C	2: 31,225,448 (GRCm39)	M119T	probably damaging	Het
Hsd11b2	A	G	8: 106,249,992 (GRCm39)	I368V	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1bl2	T	A	19: 34,596,870 (GRCm39)	N249Y	possibly damaging	Het
Igsf8	T	A	1: 172,146,432 (GRCm39)	Y36N	probably damaging	Het
Map2	T	C	1: 66,453,473 (GRCm39)	S788P	probably damaging	Het
Mast4	T	C	13: 102,887,917 (GRCm39)	D1164G	probably damaging	Het
Mcm9	A	G	10: 53,488,921 (GRCm39)		probably null	Het
Myo5a	G	A	9: 75,054,156 (GRCm39)	E355K	probably benign	Het
Myo9b	T	A	8: 71,743,194 (GRCm39)	V85E	probably damaging	Het
Nbeal1	G	A	1: 60,332,123 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,174,077 (GRCm39)	W375R	probably damaging	Het
Pik3c2a	A	G	7: 116,016,686 (GRCm39)		probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Plk4	T	A	3: 40,764,815 (GRCm39)	M603K	probably benign	Het
Rfx7	T	A	9: 72,524,748 (GRCm39)	V646E	probably benign	Het
Slc28a2b	T	C	2: 122,353,349 (GRCm39)	S510P	probably benign	Het
Slc9a1	A	G	4: 133,143,645 (GRCm39)	H377R	probably benign	Het
Snrnp70	A	C	7: 45,036,724 (GRCm39)	Y61*	probably null	Het
Spatc1l	T	C	10: 76,399,892 (GRCm39)	L138P	probably damaging	Het
Spink5	T	C	18: 44,140,825 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,892,250 (GRCm39)	S1055T	probably benign	Het
Tas2r104	T	A	6: 131,662,083 (GRCm39)	M209L	probably damaging	Het
Tdrd12	C	T	7: 35,228,672 (GRCm39)	V17I	probably damaging	Het
Tmem129	C	A	5: 33,815,126 (GRCm39)	A16S	probably benign	Het
Tmtc1	T	C	6: 148,164,381 (GRCm39)	E584G	probably damaging	Het
Trank1	C	A	9: 111,193,856 (GRCm39)	H627N	probably damaging	Het
Trio	T	C	15: 27,852,031 (GRCm39)	D820G	possibly damaging	Het
Trpt1	T	A	19: 6,975,452 (GRCm39)	N98K	probably damaging	Het
Ube4b	A	T	4: 149,429,069 (GRCm39)	F857I	probably damaging	Het
Vmn2r45	A	G	7: 8,475,021 (GRCm39)	V669A	probably damaging	Het
Vmn2r71	A	G	7: 85,273,681 (GRCm39)	I832V	probably damaging	Het
Zbtb20	T	A	16: 43,429,975 (GRCm39)		probably null	Het
Zfyve9	A	C	4: 108,575,800 (GRCm39)	M427R	probably benign	Het
Zfyve9	A	T	4: 108,576,500 (GRCm39)	F194I	possibly damaging	Het

Other mutations in Lrp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01953:Lrp12	APN	15	39,741,497 (GRCm39)	missense	probably damaging	1.00
IGL02501:Lrp12	APN	15	39,741,300 (GRCm39)	missense	probably damaging	1.00
IGL02850:Lrp12	APN	15	39,741,971 (GRCm39)	missense	probably damaging	1.00
IGL03365:Lrp12	APN	15	39,735,917 (GRCm39)	missense	probably benign
R0010:Lrp12	UTSW	15	39,741,672 (GRCm39)	missense	probably damaging	1.00
R0047:Lrp12	UTSW	15	39,741,635 (GRCm39)	missense	probably damaging	1.00
R0416:Lrp12	UTSW	15	39,742,307 (GRCm39)	splice site	probably benign
R0840:Lrp12	UTSW	15	39,739,554 (GRCm39)	missense	probably damaging	1.00
R1053:Lrp12	UTSW	15	39,741,377 (GRCm39)	missense	probably damaging	1.00
R1158:Lrp12	UTSW	15	39,741,827 (GRCm39)	missense	probably damaging	1.00
R1288:Lrp12	UTSW	15	39,741,799 (GRCm39)	missense	probably damaging	1.00
R1350:Lrp12	UTSW	15	39,741,646 (GRCm39)	nonsense	probably null
R1416:Lrp12	UTSW	15	39,742,019 (GRCm39)	missense	probably damaging	1.00
R1548:Lrp12	UTSW	15	39,735,902 (GRCm39)	missense	probably damaging	0.99
R1691:Lrp12	UTSW	15	39,735,661 (GRCm39)	missense	probably damaging	1.00
R1696:Lrp12	UTSW	15	39,741,757 (GRCm39)	missense	probably damaging	0.99
R2513:Lrp12	UTSW	15	39,739,507 (GRCm39)	missense	probably damaging	1.00
R3415:Lrp12	UTSW	15	39,741,678 (GRCm39)	missense	probably damaging	1.00
R3417:Lrp12	UTSW	15	39,741,678 (GRCm39)	missense	probably damaging	1.00
R4118:Lrp12	UTSW	15	39,741,361 (GRCm39)	nonsense	probably null
R4167:Lrp12	UTSW	15	39,748,409 (GRCm39)	missense	probably damaging	1.00
R4214:Lrp12	UTSW	15	39,735,976 (GRCm39)	missense	probably benign	0.33
R4643:Lrp12	UTSW	15	39,735,418 (GRCm39)	missense	probably damaging	1.00
R5008:Lrp12	UTSW	15	39,741,852 (GRCm39)	missense	probably damaging	1.00
R5061:Lrp12	UTSW	15	39,741,650 (GRCm39)	missense	probably damaging	1.00
R5165:Lrp12	UTSW	15	39,735,857 (GRCm39)	missense	probably benign
R5910:Lrp12	UTSW	15	39,739,439 (GRCm39)	splice site	probably null
R6038:Lrp12	UTSW	15	39,735,776 (GRCm39)	missense	probably damaging	0.99
R6038:Lrp12	UTSW	15	39,735,776 (GRCm39)	missense	probably damaging	0.99
R6047:Lrp12	UTSW	15	39,735,463 (GRCm39)	missense	probably damaging	1.00
R6351:Lrp12	UTSW	15	39,741,584 (GRCm39)	missense	probably damaging	1.00
R6392:Lrp12	UTSW	15	39,735,415 (GRCm39)	missense	probably damaging	1.00
R7026:Lrp12	UTSW	15	39,743,566 (GRCm39)	missense	probably damaging	1.00
R8306:Lrp12	UTSW	15	39,741,450 (GRCm39)	missense	probably damaging	1.00
R8469:Lrp12	UTSW	15	39,735,791 (GRCm39)	missense	probably damaging	0.99
R8544:Lrp12	UTSW	15	39,741,970 (GRCm39)	nonsense	probably null
R9320:Lrp12	UTSW	15	39,741,357 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrp12	UTSW	15	39,741,519 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGACCTAGTGTAAAGCGGACC -3'
(R):5'- CCGTCATTCAGGGTCATTGG -3'

Sequencing Primer
(F):5'- CCGACTTAAAGCACTTGTGAGCTG -3'
(R):5'- CATTCAGGGTCATTGGCTTTG -3'

Posted On

2014-09-17