Mutagenetix > Incidental Mutation

Incidental Mutation 'R5236:Lrp6'

398390

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

044393-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5236 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134423439-134543876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134488227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 290 (N290D)

Ref Sequence

ENSEMBL: ENSMUSP00000032322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032322] [ENSMUST00000126836]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032322
AA Change: N290D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: N290D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126836

SMART Domains

Protein: ENSMUSP00000144733
Gene: ENSMUSG00000030201

Domain	Start	End	E-Value	Type
LY	23	65	6.8e-16	SMART
LY	66	107	1.4e-8	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	A	9: 101,820,120 (GRCm39)	I180N	possibly damaging	Het
Actl9	T	C	17: 33,653,073 (GRCm39)	S378P	probably damaging	Het
Agrn	A	T	4: 156,263,315 (GRCm39)	C263S	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Arid4b	A	G	13: 14,301,034 (GRCm39)		probably null	Het
Bin2	T	C	15: 100,560,415 (GRCm39)	N49D	probably damaging	Het
Ccdc39	T	C	3: 33,884,251 (GRCm39)	T364A	probably damaging	Het
Cdcp1	A	T	9: 123,014,258 (GRCm39)	V172D	probably damaging	Het
Cdh23	A	G	10: 60,148,351 (GRCm39)	L2670P	probably damaging	Het
Cmtm4	G	C	8: 105,084,378 (GRCm39)	F105L	probably damaging	Het
Cspg4b	A	G	13: 113,502,754 (GRCm39)	Y153C	probably benign	Het
Ctsa	G	A	2: 164,680,831 (GRCm39)	V453M	probably damaging	Het
Cyp3a59	A	G	5: 146,039,635 (GRCm39)	I303V	probably benign	Het
Cyp4f17	T	C	17: 32,739,606 (GRCm39)		probably null	Het
Dst	C	T	1: 34,203,498 (GRCm39)	R447C	probably damaging	Het
E2f7	C	T	10: 110,603,070 (GRCm39)	P362S	probably damaging	Het
Fbxw9	A	G	8: 85,792,974 (GRCm39)	T407A	probably damaging	Het
Fyb2	T	C	4: 104,805,957 (GRCm39)	S346P	probably benign	Het
Git2	T	A	5: 114,905,233 (GRCm39)	I75L	probably damaging	Het
H2-DMa	T	A	17: 34,356,913 (GRCm39)	L137Q	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hrg	T	C	16: 22,780,263 (GRCm39)		probably benign	Het
Htr7	A	T	19: 36,034,169 (GRCm39)	I162N	probably damaging	Het
Itpripl1	A	T	2: 126,983,770 (GRCm39)	F117L	probably damaging	Het
Kri1	T	C	9: 21,187,237 (GRCm39)	Y392C	probably damaging	Het
Krt27	A	C	11: 99,241,641 (GRCm39)	S87A	possibly damaging	Het
Lama1	T	C	17: 68,111,487 (GRCm39)	V2246A	probably benign	Het
Lcn2	A	T	2: 32,275,973 (GRCm39)	M119K	probably benign	Het
Lrp2	T	C	2: 69,287,163 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,291,614 (GRCm39)	E2517G	probably damaging	Het
Melk	G	A	4: 44,344,959 (GRCm39)	C363Y	probably benign	Het
Mettl22	T	A	16: 8,306,597 (GRCm39)	L351*	probably null	Het
Mms22l	A	G	4: 24,588,347 (GRCm39)	Q953R	probably benign	Het
Ndufaf7	T	C	17: 79,247,060 (GRCm39)	S107P	probably benign	Het
Opa3	A	G	7: 18,978,682 (GRCm39)	Y49C	probably damaging	Het
Or2a12	A	C	6: 42,904,715 (GRCm39)	R183S	probably benign	Het
Or9a2	C	A	6: 41,749,045 (GRCm39)	G63C	probably benign	Het
Pabpn1	T	A	14: 55,132,399 (GRCm39)	M145K	possibly damaging	Het
Plce1	A	C	19: 38,758,791 (GRCm39)	M1982L	probably benign	Het
Ppcdc	A	C	9: 57,321,937 (GRCm39)	I201S	probably benign	Het
Rag2	A	T	2: 101,460,005 (GRCm39)	D105V	probably damaging	Het
Rnf130	C	T	11: 49,986,805 (GRCm39)	T383I	probably damaging	Het
Sgip1	T	G	4: 102,784,784 (GRCm39)		probably null	Het
Slc23a2	T	A	2: 131,917,504 (GRCm39)	I245F	probably damaging	Het
Slc4a9	A	G	18: 36,663,900 (GRCm39)	Y308C	probably benign	Het
Slc7a15	C	T	12: 8,589,005 (GRCm39)	V181M	probably benign	Het
Sprr2b	G	A	3: 92,224,943 (GRCm39)	C63Y	unknown	Het
Stpg2	A	T	3: 138,937,984 (GRCm39)	Y181F	probably damaging	Het
Sult2a5	A	T	7: 13,398,974 (GRCm39)	T194S	probably benign	Het
Tbx15	A	T	3: 99,259,362 (GRCm39)	Q411L	possibly damaging	Het
Tln2	T	A	9: 67,273,205 (GRCm39)	E427V	probably damaging	Het
Trpv4	A	C	5: 114,760,856 (GRCm39)	V825G	possibly damaging	Het
Trrap	A	G	5: 144,754,596 (GRCm39)	I1968V	probably benign	Het
Ttn	G	A	2: 76,619,146 (GRCm39)	L16078F	probably damaging	Het
Unc45b	T	A	11: 82,805,888 (GRCm39)	F132I	possibly damaging	Het
Unc79	T	A	12: 103,060,654 (GRCm39)		probably null	Het
Vmn2r71	A	T	7: 85,272,877 (GRCm39)	N564Y	probably damaging	Het
Zfp638	G	T	6: 83,953,557 (GRCm39)	E1221*	probably null	Het
Zfp934	A	T	13: 62,665,527 (GRCm39)	H371Q	probably damaging	Het
Zranb3	A	G	1: 127,968,726 (GRCm39)	L63P	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
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
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'- TGAGTGACTAGCCTCCCAAAG -3'
(R):5'- CTTGGTAGTCAAACACCTGGATG -3'

Sequencing Primer
(F):5'- GAGTGACTAGCCTCCCAAAGTACTG -3'
(R):5'- GTCAAACACCTGGATGAAATTTGG -3'

Posted On

2016-07-06