Mutagenetix > Incidental Mutation

Incidental Mutation 'R8866:Lrp6'

675926

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

068742-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R8866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134423439-134543876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134445785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1009 (N1009K)

Ref Sequence

ENSEMBL: ENSMUSP00000032322 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032322
AA Change: N1009K

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: N1009K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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 (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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,914,511 (GRCm39)	T38I	probably benign	Het
Arhgap1	G	T	2: 91,499,744 (GRCm39)	S293I	probably benign	Het
Arhgap45	C	A	10: 79,853,750 (GRCm39)	P88Q	probably damaging	Het
Atg9a	A	C	1: 75,161,867 (GRCm39)	F560V	probably damaging	Het
Btaf1	T	A	19: 36,935,901 (GRCm39)	N230K	probably benign	Het
Ccne1	A	C	7: 37,800,046 (GRCm39)	H179Q	probably benign	Het
Dbr1	T	A	9: 99,460,497 (GRCm39)	L109*	probably null	Het
Dchs1	G	T	7: 105,404,597 (GRCm39)	N2648K	probably benign	Het
Ddx47	A	G	6: 135,000,356 (GRCm39)	K451E	probably benign	Het
Dlgap1	A	T	17: 70,823,435 (GRCm39)	H140L	probably damaging	Het
Dnah11	T	A	12: 118,156,107 (GRCm39)	H181L	probably benign	Het
Dync1h1	T	C	12: 110,602,333 (GRCm39)	C2074R	probably damaging	Het
Ell2	A	T	13: 75,917,793 (GRCm39)	Q574H	probably damaging	Het
Eloa	A	C	4: 135,737,538 (GRCm39)		probably null	Het
Epha7	A	G	4: 28,821,614 (GRCm39)	I260V	probably benign	Het
Fbp2	T	C	13: 62,989,709 (GRCm39)	K199R	probably benign	Het
Fetub	A	T	16: 22,758,321 (GRCm39)	E368V	possibly damaging	Het
Fsip2	A	G	2: 82,810,521 (GRCm39)	Q2280R	probably benign	Het
Fstl4	A	G	11: 52,963,233 (GRCm39)	E205G	possibly damaging	Het
Gm5592	A	T	7: 40,938,246 (GRCm39)	R509S	possibly damaging	Het
Gpld1	A	G	13: 25,170,890 (GRCm39)	T794A	probably benign	Het
Gsk3b	A	G	16: 38,004,900 (GRCm39)	Y157C	probably damaging	Het
Hgs	A	G	11: 120,360,464 (GRCm39)	N54S	probably benign	Het
Hydin	G	A	8: 111,308,779 (GRCm39)	V4022M	possibly damaging	Het
Kank1	T	C	19: 25,388,702 (GRCm39)	S792P	possibly damaging	Het
Kctd4	A	G	14: 76,200,465 (GRCm39)	I145M	probably benign	Het
Klra5	A	T	6: 129,880,533 (GRCm39)	W212R	probably damaging	Het
Lrrc10	T	A	10: 116,881,858 (GRCm39)	N177K	probably damaging	Het
Lrrc39	T	A	3: 116,363,790 (GRCm39)	I121N	probably damaging	Het
Mov10l1	A	T	15: 88,896,169 (GRCm39)	D671V	probably benign	Het
Ndel1	A	G	11: 68,734,645 (GRCm39)		probably null	Het
Or10g3	A	T	14: 52,610,196 (GRCm39)	Y105N	probably damaging	Het
Or1e27-ps1	A	G	11: 73,555,825 (GRCm39)	Y130C	probably damaging	Het
Or1e32	A	T	11: 73,705,237 (GRCm39)	S224T	probably damaging	Het
Or51a43	A	T	7: 103,718,119 (GRCm39)	S40T	probably damaging	Het
Otop2	A	G	11: 115,220,354 (GRCm39)	D398G	probably benign	Het
Pkd1	T	C	17: 24,792,051 (GRCm39)	V1246A	probably damaging	Het
Polr3b	T	A	10: 84,531,555 (GRCm39)	D810E	probably benign	Het
Ppl	T	A	16: 4,920,211 (GRCm39)	T395S	probably benign	Het
Ptprm	G	A	17: 67,116,630 (GRCm39)	A883V	probably benign	Het
Rapgef6	G	A	11: 54,443,700 (GRCm39)		probably null	Het
Rbm12	A	T	2: 155,938,693 (GRCm39)	Y526*	probably null	Het
Rbm15b	C	T	9: 106,763,595 (GRCm39)	R191Q	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Rxylt1	A	G	10: 121,924,953 (GRCm39)	Y250H	probably damaging	Het
Serpinb6c	A	T	13: 34,083,309 (GRCm39)	I35N	probably damaging	Het
Setd4	A	G	16: 93,386,961 (GRCm39)	F246L	probably damaging	Het
Shank2	A	G	7: 143,964,986 (GRCm39)	S865G	probably benign	Het
Skint6	T	C	4: 112,711,650 (GRCm39)	N956D	probably benign	Het
Slc30a3	C	A	5: 31,245,325 (GRCm39)	V332F	possibly damaging	Het
Smg1	A	G	7: 117,806,122 (GRCm39)	S240P	unknown	Het
Tank	T	A	2: 61,409,005 (GRCm39)	S7R	probably benign	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tmem74	A	G	15: 43,730,231 (GRCm39)	S271P	probably damaging	Het
Tor4a	T	C	2: 25,084,965 (GRCm39)	M313V	probably benign	Het
Tpd52l2	A	G	2: 181,154,861 (GRCm39)	D192G	probably damaging	Het
Trim29	T	C	9: 43,222,945 (GRCm39)	V258A	probably damaging	Het
Ttc39c	A	T	18: 12,831,003 (GRCm39)	S288C	probably benign	Het
Ttn	T	C	2: 76,592,675 (GRCm39)	E20819G	probably damaging	Het
Twnk	C	T	19: 45,000,272 (GRCm39)	Q663*	probably null	Het
Ucn	T	A	5: 31,295,857 (GRCm39)	Q3L	probably benign	Het
Unc80	G	A	1: 66,629,388 (GRCm39)	G1295E	probably benign	Het
Usp9y	C	T	Y: 1,395,758 (GRCm39)	R492H	probably damaging	Het
Vars1	T	C	17: 35,234,620 (GRCm39)	S1150P	probably benign	Het
Vwa5b1	T	G	4: 138,327,628 (GRCm39)	E316A	probably damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp839	A	G	12: 110,834,848 (GRCm39)	E701G	probably benign	Het
Zfp931	A	T	2: 177,710,178 (GRCm39)	C69*	probably null	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
R6724:Lrp6	UTSW	6	134,463,504 (GRCm39)	missense	possibly damaging	0.94
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
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'- TTGGAACATACCCTTTCTCGG -3'
(R):5'- TGCTCCAGGTTAAAGTAGCC -3'

Sequencing Primer
(F):5'- GGGTTTACCACAATGGCTCGAG -3'
(R):5'- CTCCAGGTTAAAGTAGCCCTGAAATG -3'

Posted On

2021-07-15