Mutagenetix > Incidental Mutation

Incidental Mutation 'R1416:Lrp12'

159606

Institutional Source

Beutler Lab

Gene Symbol

Lrp12

Ensembl Gene

ENSMUSG00000022305

Gene Name

low density lipoprotein-related protein 12

Synonyms

C820005L12Rik

MMRRC Submission

039472-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R1416 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39733985-39807390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39742019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 232 (E232G)

Ref Sequence

ENSEMBL: ENSMUSP00000105934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022916] [ENSMUST00000110305] [ENSMUST00000228575]

AlphaFold

Q8BUJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022916
AA Change: E251G

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

SMART Domains

Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: E251G

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: E232G

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

SMART Domains

Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: E232G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228575

Meta Mutation Damage Score

0.9174

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

94% (63/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 103,950,822 (GRCm39)	S49P	probably damaging	Het
Afm	T	C	5: 90,674,238 (GRCm39)	I250T	possibly damaging	Het
Alox5	G	A	6: 116,400,106 (GRCm39)	Q278*	probably null	Het
Anxa7	G	A	14: 20,512,775 (GRCm39)	R253C	probably damaging	Het
Arfgef1	T	A	1: 10,243,164 (GRCm39)	T1059S	probably damaging	Het
Arpp21	T	C	9: 112,008,197 (GRCm39)	E101G	probably damaging	Het
Bcr	A	T	10: 74,897,338 (GRCm39)	I161F	possibly damaging	Het
Ccdc141	T	C	2: 76,845,140 (GRCm39)	E1309G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cep41	C	T	6: 30,657,356 (GRCm39)	S233N	probably damaging	Het
Col5a1	T	G	2: 27,812,076 (GRCm39)	S53A	unknown	Het
Cplane1	C	T	15: 8,276,422 (GRCm39)	Q2689*	probably null	Het
Efnb2	A	G	8: 8,672,329 (GRCm39)		probably null	Het
Epb41l5	T	C	1: 119,477,606 (GRCm39)		probably benign	Het
Eri2	A	G	7: 119,390,397 (GRCm39)	F77S	probably damaging	Het
Ern1	C	T	11: 106,312,806 (GRCm39)		probably benign	Het
Eya3	T	C	4: 132,434,440 (GRCm39)		probably benign	Het
Icos	T	C	1: 61,033,802 (GRCm39)	L144P	probably damaging	Het
Ipo8	A	G	6: 148,690,591 (GRCm39)	V717A	probably benign	Het
Lrp1b	A	G	2: 40,888,228 (GRCm39)	I2344T	probably damaging	Het
Mettl5	A	T	2: 69,701,633 (GRCm39)	F207I	possibly damaging	Het
Mtor	G	T	4: 148,575,871 (GRCm39)	E1342*	probably null	Het
Nrap	A	G	19: 56,315,725 (GRCm39)	Y1360H	possibly damaging	Het
Nsun7	T	C	5: 66,418,423 (GRCm39)	V51A	probably damaging	Het
Or5an11	C	A	19: 12,246,258 (GRCm39)	F221L	probably benign	Het
Or5p5	T	C	7: 107,414,469 (GRCm39)	L228P	probably damaging	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Or8k27	T	C	2: 86,275,664 (GRCm39)	I221V	probably benign	Het
Or9m1b	T	A	2: 87,836,915 (GRCm39)	Y60F	probably damaging	Het
Otud6b	A	C	4: 14,818,473 (GRCm39)	L143V	probably damaging	Het
Pabir2	T	C	X: 52,335,023 (GRCm39)	*256W	probably null	Het
Pp2d1	T	C	17: 53,822,835 (GRCm39)	N77S	probably benign	Het
Ppp4r3c2	A	T	X: 88,797,283 (GRCm39)	M372L	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Raly	G	T	2: 154,699,273 (GRCm39)	G26*	probably null	Het
Rarb	T	C	14: 16,435,177 (GRCm38)	M290V	possibly damaging	Het
Rusc2	A	G	4: 43,421,617 (GRCm39)	E679G	possibly damaging	Het
Scap	T	C	9: 110,213,841 (GRCm39)	V1268A	probably damaging	Het
Setd1b	C	T	5: 123,298,748 (GRCm39)		probably benign	Het
Shisa3	C	G	5: 67,768,777 (GRCm39)	P226A	probably benign	Het
Smox	C	T	2: 131,364,051 (GRCm39)	S481F	probably damaging	Het
Stard9	T	C	2: 120,531,453 (GRCm39)	V2570A	probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Sult4a1	C	T	15: 83,970,847 (GRCm39)	R186Q	probably benign	Het
Taf2	G	T	15: 54,901,806 (GRCm39)	A796E	possibly damaging	Het
Taf4b	T	C	18: 14,954,484 (GRCm39)		probably benign	Het
Thbs4	G	T	13: 92,898,041 (GRCm39)	Q593K	probably benign	Het
Tigd3	T	C	19: 5,941,753 (GRCm39)	D459G	probably benign	Het
Tmem168	A	T	6: 13,591,400 (GRCm39)	L472Q	probably damaging	Het
Tmem169	G	T	1: 72,339,875 (GRCm39)	V102F	probably damaging	Het
Tmem241	T	C	18: 12,126,631 (GRCm39)	T274A	probably benign	Het
Trip10	A	G	17: 57,557,800 (GRCm39)	Y28C	probably damaging	Het
Ubp1	T	C	9: 113,799,239 (GRCm39)	V398A	probably benign	Het
Ubr3	A	G	2: 69,775,415 (GRCm39)	Y567C	probably damaging	Het
Uckl1	A	T	2: 181,211,362 (GRCm39)	M489K	possibly damaging	Het
Ush2a	C	T	1: 188,169,080 (GRCm39)	P1074S	probably damaging	Het
Vmn1r62	T	C	7: 5,678,904 (GRCm39)	V195A	probably damaging	Het
Vmn2r63	T	A	7: 42,577,339 (GRCm39)	I400L	probably benign	Het
Vmn2r67	T	A	7: 84,800,824 (GRCm39)	I371F	probably benign	Het
Wdr64	A	G	1: 175,633,568 (GRCm39)	T940A	probably benign	Het
Zfp105	A	T	9: 122,759,742 (GRCm39)	Y471F	probably damaging	Het
Zfp287	A	T	11: 62,605,166 (GRCm39)	H580Q	probably 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
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
R2050:Lrp12	UTSW	15	39,735,985 (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'- TCGAAAGCAGTTAGCACCCGCAAG -3'
(R):5'- ACGAGTGTGGAGACAGTTCTGACG -3'

Sequencing Primer
(F):5'- TTTTGACATAATCACCATACCCG -3'
(R):5'- CAGTTCTGACGAGGAGGTC -3'

Posted On

2014-03-14