Mutagenetix > Incidental Mutation

Incidental Mutation 'R6724:Lrp6'

529758

Institutional Source

Beutler Lab

Gene Symbol

Lrp6

Ensembl Gene

ENSMUSG00000030201

Gene Name

low density lipoprotein receptor-related protein 6

Synonyms

ska, Cd, skax26, ska26

MMRRC Submission

044842-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134423439-134543876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134463504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 559 (H559R)

Ref Sequence

ENSEMBL: ENSMUSP00000032322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032322]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032322
AA Change: H559R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: H559R

Domain	Start	End	E-Value	Type
LY	43	85	1.55e-2	SMART
LY	87	129	1.91e-11	SMART
LY	130	173	5.19e-13	SMART
LY	174	216	1.39e-13	SMART
LY	217	258	2.87e-6	SMART
EGF	285	324	2.16e-1	SMART
low complexity region	330	341	N/A	INTRINSIC
LY	352	394	1.29e-8	SMART
LY	395	437	5.73e-15	SMART
LY	438	481	1.07e-14	SMART
LY	482	524	3.07e-15	SMART
LY	525	565	4.66e-6	SMART
EGF	591	628	1.47e-3	SMART
LY	654	696	2.06e-7	SMART
LY	697	739	3.73e-14	SMART
LY	740	783	3.37e-12	SMART
LY	784	825	1.17e-6	SMART
LY	827	865	1.91e-2	SMART
EGF	892	930	7.35e-4	SMART
LY	957	999	1.41e-5	SMART
LY	1005	1048	5.32e-1	SMART
LY	1049	1093	5e-6	SMART
LY	1094	1136	4.25e-9	SMART
LY	1137	1177	1.91e-2	SMART
EGF	1206	1250	1.23e1	SMART
LDLa	1248	1287	2.42e-12	SMART
LDLa	1288	1324	4.37e-10	SMART
LDLa	1325	1362	1.66e-10	SMART
transmembrane domain	1371	1393	N/A	INTRINSIC
low complexity region	1429	1438	N/A	INTRINSIC
low complexity region	1444	1457	N/A	INTRINSIC
low complexity region	1508	1524	N/A	INTRINSIC
low complexity region	1566	1573	N/A	INTRINSIC
low complexity region	1596	1608	N/A	INTRINSIC

Meta Mutation Damage Score

0.0880

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (63/64)

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 (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]
PHENOTYPE: Animals homozygous for this mutation exhibit partial embryonic lethality, growth retardation, crooked tail, abnormal vertebrae, small skull with occasional bent nose, absence of the third molars and small and/or unerupted lower incisors. Heterozygotes exhibit a crooked tail and abnormal vertebrae. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	A	16: 85,665,445 (GRCm39)	T619S	probably benign	Het
Adgra2	G	A	8: 27,604,210 (GRCm39)	A467T	possibly damaging	Het
Alox5	A	T	6: 116,391,509 (GRCm39)	I416N	probably damaging	Het
Blmh	A	G	11: 76,862,733 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,255,973 (GRCm39)	Y567*	probably null	Het
Cnr1	T	A	4: 33,944,728 (GRCm39)	M372K	possibly damaging	Het
Col6a3	T	C	1: 90,706,874 (GRCm39)	T2080A	unknown	Het
Crybg3	A	T	16: 59,364,501 (GRCm39)	C2374S	probably benign	Het
Csmd2	A	G	4: 128,457,164 (GRCm39)	I3544V	probably damaging	Het
Dnah12	A	T	14: 26,518,180 (GRCm39)	D1809V	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajb12	A	G	10: 59,728,602 (GRCm39)	D190G	possibly damaging	Het
Dtnb	T	A	12: 3,736,817 (GRCm39)	V319D	probably damaging	Het
Eif1ad6	A	T	12: 87,668,754 (GRCm39)	I129F	unknown	Het
Ercc6	A	T	14: 32,288,288 (GRCm39)	E820V	probably benign	Het
Fip1l1	T	G	5: 74,752,435 (GRCm39)	V378G	probably damaging	Het
Gabrg1	T	A	5: 70,911,552 (GRCm39)	Y358F	possibly damaging	Het
Gcn1	T	G	5: 115,747,217 (GRCm39)		probably null	Het
Gm11011	T	A	2: 169,429,402 (GRCm39)	T28S	unknown	Het
Guf1	C	A	5: 69,723,736 (GRCm39)	N438K	probably damaging	Het
Hoxa7	T	C	6: 52,192,719 (GRCm39)	E223G	probably benign	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Ipo8	A	T	6: 148,711,473 (GRCm39)		probably null	Het
Isl2	A	G	9: 55,448,572 (GRCm39)	D3G	possibly damaging	Het
Kcnb2	A	G	1: 15,780,664 (GRCm39)	Y512C	probably damaging	Het
Kifc1	T	A	17: 34,105,707 (GRCm39)		probably null	Het
Klhdc10	A	G	6: 30,446,640 (GRCm39)	D183G	probably damaging	Het
Klra5	T	A	6: 129,883,643 (GRCm39)	K71N	probably benign	Het
Maml3	T	C	3: 51,763,296 (GRCm39)	N556S	probably damaging	Het
Man2a1	A	G	17: 65,038,264 (GRCm39)	I83V	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,786 (GRCm39)	S293P	probably damaging	Het
Nalcn	A	G	14: 123,535,479 (GRCm39)	S1282P	probably damaging	Het
Npepps	A	T	11: 97,096,828 (GRCm39)		probably benign	Het
Or4a72	A	T	2: 89,405,309 (GRCm39)	F254I	probably benign	Het
Or4c108	T	G	2: 88,803,612 (GRCm39)	I208L	probably benign	Het
Or8u10	A	T	2: 85,915,701 (GRCm39)	V140E	possibly damaging	Het
Or9m1	T	G	2: 87,733,946 (GRCm39)	S25R	probably benign	Het
Pkn3	C	A	2: 29,980,562 (GRCm39)	R818S	possibly damaging	Het
Plekha3	T	A	2: 76,517,745 (GRCm39)	H190Q	probably damaging	Het
Ppp2r3c	A	T	12: 55,335,281 (GRCm39)	S261T	probably benign	Het
Ptprj	T	C	2: 90,281,195 (GRCm39)	D1015G	probably benign	Het
Pus10	T	C	11: 23,679,037 (GRCm39)	M503T	possibly damaging	Het
Pvr	T	C	7: 19,652,604 (GRCm39)	R104G	possibly damaging	Het
Rubcnl	A	G	14: 75,289,450 (GRCm39)	R653G	probably benign	Het
Semp2l2a	A	T	8: 13,887,083 (GRCm39)	L336Q	probably damaging	Het
Serpina1a	G	T	12: 103,826,679 (GRCm39)		probably benign	Het
Shank3	G	A	15: 89,416,656 (GRCm39)	R265Q	probably damaging	Het
Slc22a22	C	T	15: 57,110,928 (GRCm39)	R433H	probably damaging	Het
Slc22a26	A	G	19: 7,779,726 (GRCm39)	I30T	probably benign	Het
Spz1	A	T	13: 92,711,992 (GRCm39)	N161K	possibly damaging	Het
Tacc2	A	G	7: 130,330,492 (GRCm39)	R259G	probably damaging	Het
Top1	G	A	2: 160,554,616 (GRCm39)	V456M	probably damaging	Het
Tpcn2	G	A	7: 144,810,257 (GRCm39)	A649V	probably benign	Het
Trank1	C	G	9: 111,194,984 (GRCm39)	R1003G	probably damaging	Het
Tril	T	A	6: 53,796,559 (GRCm39)	H221L	possibly damaging	Het
Unc79	C	T	12: 103,071,120 (GRCm39)	T1305I	probably damaging	Het
Unc80	C	T	1: 66,722,350 (GRCm39)	A2988V	possibly damaging	Het
Vinac1	A	C	2: 128,879,976 (GRCm39)	V650G	probably benign	Het
Vmn1r81	A	T	7: 11,994,599 (GRCm39)	M3K	probably damaging	Het
Vmn2r78	A	T	7: 86,603,466 (GRCm39)	D548V	probably damaging	Het
Vwa3b	G	A	1: 37,084,112 (GRCm39)	R95Q	probably damaging	Het
Wdr6	G	A	9: 108,452,093 (GRCm39)	H597Y	probably benign	Het
Yme1l1	C	T	2: 23,084,774 (GRCm39)	T624I	probably damaging	Het

Other mutations in Lrp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Lrp6	APN	6	134,433,053 (GRCm39)	missense	probably benign	0.17
IGL00765:Lrp6	APN	6	134,518,817 (GRCm39)	missense	probably benign	0.02
IGL00898:Lrp6	APN	6	134,456,702 (GRCm39)	missense	probably damaging	0.99
IGL00916:Lrp6	APN	6	134,461,252 (GRCm39)	missense	probably damaging	1.00
IGL00961:Lrp6	APN	6	134,484,609 (GRCm39)	missense	probably damaging	0.98
IGL01620:Lrp6	APN	6	134,488,225 (GRCm39)	missense	probably damaging	1.00
IGL01765:Lrp6	APN	6	134,433,108 (GRCm39)	missense	probably damaging	0.99
IGL02066:Lrp6	APN	6	134,427,900 (GRCm39)	nonsense	probably null
IGL02067:Lrp6	APN	6	134,457,359 (GRCm39)	missense	probably damaging	0.99
IGL02169:Lrp6	APN	6	134,490,290 (GRCm39)	missense	probably damaging	0.96
IGL02281:Lrp6	APN	6	134,434,697 (GRCm39)	missense	probably benign	0.40
IGL02484:Lrp6	APN	6	134,518,886 (GRCm39)	missense	probably benign	0.15
IGL02724:Lrp6	APN	6	134,461,228 (GRCm39)	missense	probably damaging	1.00
IGL02876:Lrp6	APN	6	134,433,077 (GRCm39)	missense	probably benign	0.43
IGL03011:Lrp6	APN	6	134,497,380 (GRCm39)	missense	possibly damaging	0.80
IGL03352:Lrp6	APN	6	134,456,726 (GRCm39)	missense	probably damaging	1.00
Aileron	UTSW	6	134,439,579 (GRCm39)	missense	probably damaging	1.00
Cielo	UTSW	6	134,484,624 (GRCm39)	nonsense	probably null
Coiled	UTSW	6	134,484,521 (GRCm39)	nonsense	probably null
flap	UTSW	6	134,463,549 (GRCm39)	missense	probably damaging	0.99
soar	UTSW	6	134,488,169 (GRCm39)	missense	probably damaging	0.97
Swoop	UTSW	6	134,463,504 (GRCm39)	missense	possibly damaging	0.94
Upswing	UTSW	6	134,441,414 (GRCm39)	missense	probably damaging	0.99
Wingman	UTSW	6	134,434,705 (GRCm39)	missense	probably damaging	1.00
BB004:Lrp6	UTSW	6	134,497,513 (GRCm39)	missense	probably damaging	1.00
BB014:Lrp6	UTSW	6	134,497,513 (GRCm39)	missense	probably damaging	1.00
PIT4494001:Lrp6	UTSW	6	134,456,741 (GRCm39)	missense	probably damaging	1.00
R0008:Lrp6	UTSW	6	134,462,716 (GRCm39)	missense	probably damaging	0.96
R0008:Lrp6	UTSW	6	134,462,716 (GRCm39)	missense	probably damaging	0.96
R0201:Lrp6	UTSW	6	134,427,860 (GRCm39)	nonsense	probably null
R0295:Lrp6	UTSW	6	134,434,656 (GRCm39)	missense	probably benign	0.02
R0370:Lrp6	UTSW	6	134,456,729 (GRCm39)	missense	probably damaging	1.00
R0382:Lrp6	UTSW	6	134,444,631 (GRCm39)	missense	probably damaging	1.00
R0413:Lrp6	UTSW	6	134,484,587 (GRCm39)	missense	probably damaging	0.99
R0468:Lrp6	UTSW	6	134,462,624 (GRCm39)	missense	possibly damaging	0.94
R0492:Lrp6	UTSW	6	134,457,481 (GRCm39)	missense	possibly damaging	0.58
R0584:Lrp6	UTSW	6	134,433,039 (GRCm39)	missense	probably damaging	0.99
R0631:Lrp6	UTSW	6	134,456,738 (GRCm39)	missense	possibly damaging	0.95
R0738:Lrp6	UTSW	6	134,519,008 (GRCm39)	missense	probably benign	0.13
R0907:Lrp6	UTSW	6	134,484,488 (GRCm39)	missense	probably damaging	0.96
R1273:Lrp6	UTSW	6	134,444,470 (GRCm39)	critical splice donor site	probably null
R1548:Lrp6	UTSW	6	134,436,392 (GRCm39)	missense	possibly damaging	0.89
R1639:Lrp6	UTSW	6	134,430,529 (GRCm39)	missense	possibly damaging	0.68
R1650:Lrp6	UTSW	6	134,445,732 (GRCm39)	missense	probably benign	0.01
R1696:Lrp6	UTSW	6	134,445,686 (GRCm39)	missense	probably damaging	1.00
R1751:Lrp6	UTSW	6	134,441,531 (GRCm39)	missense	probably damaging	1.00
R1780:Lrp6	UTSW	6	134,441,414 (GRCm39)	missense	probably damaging	0.99
R2013:Lrp6	UTSW	6	134,457,337 (GRCm39)	critical splice donor site	probably null
R2015:Lrp6	UTSW	6	134,457,337 (GRCm39)	critical splice donor site	probably null
R2165:Lrp6	UTSW	6	134,436,246 (GRCm39)	missense	probably damaging	1.00
R2294:Lrp6	UTSW	6	134,434,705 (GRCm39)	missense	probably damaging	1.00
R2336:Lrp6	UTSW	6	134,484,546 (GRCm39)	missense	probably damaging	0.97
R2964:Lrp6	UTSW	6	134,444,489 (GRCm39)	missense	probably damaging	1.00
R3716:Lrp6	UTSW	6	134,484,410 (GRCm39)	missense	probably damaging	1.00
R4017:Lrp6	UTSW	6	134,497,513 (GRCm39)	missense	probably damaging	1.00
R4370:Lrp6	UTSW	6	134,483,321 (GRCm39)	nonsense	probably null
R4521:Lrp6	UTSW	6	134,462,825 (GRCm39)	missense	probably damaging	1.00
R4573:Lrp6	UTSW	6	134,447,693 (GRCm39)	nonsense	probably null
R4645:Lrp6	UTSW	6	134,461,213 (GRCm39)	missense	probably damaging	1.00
R4661:Lrp6	UTSW	6	134,488,230 (GRCm39)	missense	probably benign
R4688:Lrp6	UTSW	6	134,456,706 (GRCm39)	missense	probably damaging	1.00
R4784:Lrp6	UTSW	6	134,456,502 (GRCm39)	missense	probably benign	0.06
R5236:Lrp6	UTSW	6	134,488,227 (GRCm39)	missense	probably damaging	1.00
R5506:Lrp6	UTSW	6	134,436,259 (GRCm39)	missense	probably benign	0.09
R5508:Lrp6	UTSW	6	134,441,479 (GRCm39)	missense	probably benign	0.31
R6001:Lrp6	UTSW	6	134,441,481 (GRCm39)	missense	probably benign	0.03
R6319:Lrp6	UTSW	6	134,518,798 (GRCm39)	missense	possibly damaging	0.46
R6537:Lrp6	UTSW	6	134,457,458 (GRCm39)	missense	probably benign
R6552:Lrp6	UTSW	6	134,431,692 (GRCm39)	missense	probably benign	0.17
R6559:Lrp6	UTSW	6	134,490,217 (GRCm39)	missense	probably damaging	1.00
R6575:Lrp6	UTSW	6	134,518,934 (GRCm39)	missense	possibly damaging	0.80
R6585:Lrp6	UTSW	6	134,484,521 (GRCm39)	nonsense	probably null
R6700:Lrp6	UTSW	6	134,456,523 (GRCm39)	missense	probably damaging	1.00
R7159:Lrp6	UTSW	6	134,484,514 (GRCm39)	missense	probably benign
R7266:Lrp6	UTSW	6	134,484,364 (GRCm39)	missense	probably damaging	1.00
R7339:Lrp6	UTSW	6	134,427,781 (GRCm39)	missense	probably damaging	1.00
R7341:Lrp6	UTSW	6	134,427,781 (GRCm39)	missense	probably damaging	1.00
R7342:Lrp6	UTSW	6	134,427,781 (GRCm39)	missense	probably damaging	1.00
R7348:Lrp6	UTSW	6	134,427,781 (GRCm39)	missense	probably damaging	1.00
R7359:Lrp6	UTSW	6	134,427,923 (GRCm39)	nonsense	probably null
R7366:Lrp6	UTSW	6	134,427,781 (GRCm39)	missense	probably damaging	1.00
R7368:Lrp6	UTSW	6	134,427,781 (GRCm39)	missense	probably damaging	1.00
R7501:Lrp6	UTSW	6	134,463,471 (GRCm39)	missense	probably damaging	1.00
R7548:Lrp6	UTSW	6	134,484,471 (GRCm39)	missense	probably damaging	0.97
R7652:Lrp6	UTSW	6	134,488,208 (GRCm39)	nonsense	probably null
R7771:Lrp6	UTSW	6	134,439,579 (GRCm39)	missense	probably damaging	1.00
R7927:Lrp6	UTSW	6	134,497,513 (GRCm39)	missense	probably damaging	1.00
R8717:Lrp6	UTSW	6	134,434,711 (GRCm39)	missense	probably benign	0.41
R8726:Lrp6	UTSW	6	134,484,624 (GRCm39)	nonsense	probably null
R8792:Lrp6	UTSW	6	134,463,549 (GRCm39)	missense	probably damaging	0.99
R8812:Lrp6	UTSW	6	134,433,141 (GRCm39)	missense	probably benign
R8855:Lrp6	UTSW	6	134,445,785 (GRCm39)	missense	probably benign	0.04
R8866:Lrp6	UTSW	6	134,445,785 (GRCm39)	missense	probably benign	0.04
R8994:Lrp6	UTSW	6	134,518,656 (GRCm39)	missense	probably benign
R9021:Lrp6	UTSW	6	134,518,930 (GRCm39)	missense	probably benign	0.00
R9089:Lrp6	UTSW	6	134,488,169 (GRCm39)	missense	probably damaging	0.97
R9154:Lrp6	UTSW	6	134,518,855 (GRCm39)	missense	probably damaging	1.00
R9263:Lrp6	UTSW	6	134,457,467 (GRCm39)	missense	probably damaging	1.00
R9287:Lrp6	UTSW	6	134,483,259 (GRCm39)	missense	probably benign	0.21
R9545:Lrp6	UTSW	6	134,483,329 (GRCm39)	missense	probably damaging	1.00
R9574:Lrp6	UTSW	6	134,447,662 (GRCm39)	missense	possibly damaging	0.90
R9640:Lrp6	UTSW	6	134,441,414 (GRCm39)	missense	probably damaging	0.99
Z1176:Lrp6	UTSW	6	134,433,120 (GRCm39)	missense	possibly damaging	0.72
Z1177:Lrp6	UTSW	6	134,439,504 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTGCCTATGGATCTAACC -3'
(R):5'- GAGTACTGACCTAGACCTCCTC -3'

Sequencing Primer
(F):5'- GGCTGCCTATGGATCTAACCTAACAG -3'
(R):5'- CCTTCTCTTCCATCTCAAACCTGAAG -3'

Posted On

2018-08-01