Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Lrp12'

514286

Institutional Source

Beutler Lab

Gene Symbol

Lrp12

Ensembl Gene

ENSMUSG00000022305

Gene Name

low density lipoprotein-related protein 12

Synonyms

C820005L12Rik

Accession Numbers

Essential gene?

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

Stock #

R6351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39733985-39807390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39741584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 377 (D377V)

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: D396V

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

SMART Domains

Protein: ENSMUSP00000022916
Gene: ENSMUSG00000022305
AA Change: D396V

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: D377V

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

SMART Domains

Protein: ENSMUSP00000105934
Gene: ENSMUSG00000022305
AA Change: D377V

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

0.6164

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1a	C	A	9: 119,170,630 (GRCm39)	S17*	probably null	Het
Adamts16	T	A	13: 70,984,322 (GRCm39)	S114C	probably damaging	Het
Agpat5	T	C	8: 18,896,724 (GRCm39)	V50A	probably benign	Het
Agrn	T	C	4: 156,263,891 (GRCm39)	N124S	probably benign	Het
Ak8	T	C	2: 28,625,638 (GRCm39)	I227T	probably benign	Het
Akap6	A	G	12: 53,188,808 (GRCm39)	E2074G	probably damaging	Het
Apc	T	A	18: 34,445,265 (GRCm39)	S702R	probably damaging	Het
Ascc3	T	C	10: 50,596,769 (GRCm39)	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,533,698 (GRCm39)	F318I	probably damaging	Het
Bltp1	G	A	3: 36,962,377 (GRCm39)	A493T	probably damaging	Het
Bnc2	T	C	4: 84,211,380 (GRCm39)	T397A	probably benign	Het
Bpifb4	C	T	2: 153,799,054 (GRCm39)	T528I	probably damaging	Het
Brinp3	A	G	1: 146,777,323 (GRCm39)	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,542,477 (GRCm39)	S372P	probably benign	Het
Cdhr2	A	G	13: 54,874,589 (GRCm39)	H887R	probably benign	Het
Clcn6	C	T	4: 148,101,957 (GRCm39)	V376I	probably benign	Het
Cntln	T	G	4: 85,033,591 (GRCm39)	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,799,928 (GRCm39)	D1564G	probably benign	Het
Cux1	A	T	5: 136,338,646 (GRCm39)	S582T	probably damaging	Het
Cwh43	G	A	5: 73,569,248 (GRCm39)	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,219,826 (GRCm39)	F781L	probably damaging	Het
Dsc3	G	T	18: 20,099,348 (GRCm39)	H723N	probably benign	Het
Ear10	A	T	14: 44,160,512 (GRCm39)	V105D	probably damaging	Het
Ecel1	A	G	1: 87,077,231 (GRCm39)	V659A	possibly damaging	Het
Eogt	A	T	6: 97,097,155 (GRCm39)	F316I	probably damaging	Het
Etaa1	T	C	11: 17,897,188 (GRCm39)	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,203,633 (GRCm39)	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,839,623 (GRCm39)	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,677,024 (GRCm39)	Y178H	probably damaging	Het
Fat1	A	T	8: 45,486,532 (GRCm39)	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,823,028 (GRCm39)	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,063,528 (GRCm39)	T299A	probably damaging	Het
Gbp11	T	C	5: 105,475,464 (GRCm39)	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203 (GRCm39)	Q44*	probably null	Het
Gpc5	A	T	14: 115,636,612 (GRCm39)	T432S	probably benign	Het
Grhl1	G	A	12: 24,634,857 (GRCm39)	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,708 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ints9	A	G	14: 65,230,456 (GRCm39)	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,302,850 (GRCm39)	N130I	probably damaging	Het
Krba1	T	C	6: 48,391,062 (GRCm39)	V717A	probably benign	Het
Magi1	G	T	6: 93,920,210 (GRCm39)	D135E	possibly damaging	Het
Map10	T	A	8: 126,397,984 (GRCm39)	L459Q	probably damaging	Het
Mitf	A	G	6: 97,980,873 (GRCm39)	D238G	possibly damaging	Het
Ms4a19	C	T	19: 11,119,765 (GRCm39)	G14D	probably damaging	Het
Mylk	G	T	16: 34,742,341 (GRCm39)	R951L	probably benign	Het
Nacad	T	A	11: 6,549,235 (GRCm39)	D1272V	probably damaging	Het
Nacad	T	A	11: 6,550,165 (GRCm39)	K1009*	probably null	Het
Ncor1	T	C	11: 62,264,124 (GRCm39)	D786G	probably benign	Het
Oas2	G	A	5: 120,886,603 (GRCm39)	R188C	probably benign	Het
Odf2l	A	G	3: 144,841,479 (GRCm39)	I300V	probably benign	Het
Or1j10	T	A	2: 36,267,208 (GRCm39)	V140D	possibly damaging	Het
Or51b17	A	T	7: 103,542,342 (GRCm39)	L200*	probably null	Het
Or51v8	A	G	7: 103,320,163 (GRCm39)	I25T	possibly damaging	Het
Or5p60	A	G	7: 107,723,637 (GRCm39)	S278P	probably damaging	Het
Or9i1	A	G	19: 13,839,186 (GRCm39)	T10A	probably benign	Het
Pes1	T	A	11: 3,928,865 (GRCm39)	D574E	probably benign	Het
Phf20	C	T	2: 156,136,130 (GRCm39)	R650C	possibly damaging	Het
Pias4	G	A	10: 80,993,098 (GRCm39)	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,282,175 (GRCm39)	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,250,033 (GRCm39)		probably null	Het
Plekha7	A	G	7: 115,776,133 (GRCm39)	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,041,973 (GRCm39)	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 24,901,576 (GRCm39)	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,521,313 (GRCm39)	S279C	probably damaging	Het
Ptprq	T	A	10: 107,544,529 (GRCm39)	T334S	probably damaging	Het
Rab39	T	C	9: 53,597,821 (GRCm39)	D148G	probably benign	Het
Reep3	A	T	10: 66,870,432 (GRCm39)	F121L	probably benign	Het
Reln	G	T	5: 22,106,661 (GRCm39)	C3236*	probably null	Het
Rrp8	C	T	7: 105,384,016 (GRCm39)	C162Y	probably damaging	Het
Scrib	C	A	15: 75,936,835 (GRCm39)	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,189,224 (GRCm39)	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,190,263 (GRCm39)	V63A	possibly damaging	Het
Shoc1	T	C	4: 59,069,317 (GRCm39)	D703G	probably benign	Het
Slc46a1	T	C	11: 78,357,985 (GRCm39)	M346T	probably benign	Het
Sycp2	A	G	2: 178,005,209 (GRCm39)	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,750,505 (GRCm39)	I105F	probably benign	Het
Thumpd1	A	T	7: 119,319,828 (GRCm39)	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,035,164 (GRCm39)	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 70,010,850 (GRCm39)	C85S	probably damaging	Het
Tox	T	C	4: 6,697,439 (GRCm39)	T455A	probably benign	Het
Tox	T	C	4: 6,741,536 (GRCm39)	Q148R	probably benign	Het
Trp53bp1	A	C	2: 121,100,426 (GRCm39)	S109R	probably damaging	Het
Tshz2	A	T	2: 169,726,888 (GRCm39)	T26S	probably benign	Het
Tubb4a	T	A	17: 57,388,016 (GRCm39)	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,534,458 (GRCm39)	V119E	probably damaging	Het
Unk	C	T	11: 115,945,772 (GRCm39)	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,820,259 (GRCm39)	T44I	probably benign	Het
Vstm5	G	A	9: 15,168,829 (GRCm39)	G131D	probably damaging	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp369	T	A	13: 65,444,044 (GRCm39)	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,157,209 (GRCm39)	C302*	probably null	Het
Zfp972	A	T	2: 177,548,728 (GRCm39)		probably null	Het
Zfyve21	C	A	12: 111,794,028 (GRCm39)	A212E	probably benign	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
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
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'- AATTCCCTGGCTGGCAAAAG -3'
(R):5'- GAGAATCCTCGCAAGCTCTTG -3'

Sequencing Primer
(F):5'- CCTGGCTGGCAAAAGAAGCAG -3'
(R):5'- AAGCTCTTGCGGGTGCTAAC -3'

Posted On

2018-04-27