Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02484:Lrp6'

295355

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrp6

Ensembl Gene

ENSMUSG00000030201

Gene Name

low density lipoprotein receptor-related protein 6

Synonyms

ska, Cd, skax26, ska26

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02484

Quality Score

Status

Chromosome

Chromosomal Location

134423439-134543876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134518886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 60 (F60L)

Ref Sequence

ENSEMBL: ENSMUSP00000032322 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032322
AA Change: F60L

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: F60L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203235

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	C	7: 29,262,777 (GRCm39)		noncoding transcript	Het
Araf	A	G	X: 20,720,148 (GRCm39)		probably benign	Het
Arrb2	T	A	11: 70,330,300 (GRCm39)	V308E	probably damaging	Het
Asap3	A	G	4: 135,956,768 (GRCm39)		probably benign	Het
Astn2	G	A	4: 65,910,516 (GRCm39)		probably benign	Het
Cactin	T	A	10: 81,158,808 (GRCm39)	I258N	probably benign	Het
Calhm6	T	C	10: 34,002,400 (GRCm39)	T228A	probably benign	Het
Catsperg1	T	C	7: 28,910,345 (GRCm39)		probably benign	Het
Ccna1	C	T	3: 54,955,915 (GRCm39)	D146N	probably benign	Het
Chrna3	T	C	9: 54,922,821 (GRCm39)	Y329C	probably damaging	Het
Ctps2	G	A	X: 161,693,005 (GRCm39)	G56D	probably damaging	Het
Cyp4b1	T	C	4: 115,504,754 (GRCm39)	D44G	probably benign	Het
D3Ertd751e	A	G	3: 41,708,155 (GRCm39)		probably null	Het
Daxx	T	C	17: 34,131,216 (GRCm39)	V381A	probably damaging	Het
Dhx37	T	A	5: 125,496,401 (GRCm39)	I714F	possibly damaging	Het
Dnah7b	T	C	1: 46,234,478 (GRCm39)	V1470A	probably damaging	Het
Efl1	T	C	7: 82,332,247 (GRCm39)	I297T	probably damaging	Het
Fnd3c2	A	T	X: 105,289,092 (GRCm39)	H442Q	probably damaging	Het
Glp2r	A	C	11: 67,630,992 (GRCm39)	V126G	possibly damaging	Het
Gm5699	G	T	1: 31,037,843 (GRCm39)		noncoding transcript	Het
Gpt2	A	G	8: 86,242,862 (GRCm39)	D298G	probably damaging	Het
Gse1	G	T	8: 121,302,001 (GRCm39)		probably benign	Het
Hand1	T	C	11: 57,722,420 (GRCm39)	T65A	probably benign	Het
Ints8	G	A	4: 11,208,834 (GRCm39)	Q955*	probably null	Het
Lrguk	C	T	6: 34,069,726 (GRCm39)	P534S	probably damaging	Het
Mamld1	T	C	X: 70,162,258 (GRCm39)	I423T	possibly damaging	Het
Mrpl22	G	A	11: 58,063,888 (GRCm39)	S36N	possibly damaging	Het
Mug2	A	G	6: 122,049,712 (GRCm39)	E915G	probably damaging	Het
Oosp2	T	C	19: 11,628,847 (GRCm39)	T85A	probably benign	Het
Or5b94	T	C	19: 12,652,223 (GRCm39)	F218S	possibly damaging	Het
Or5p68	C	T	7: 107,945,813 (GRCm39)	R125Q	probably damaging	Het
Pde4c	T	A	8: 71,200,701 (GRCm39)		probably benign	Het
Pdxdc1	T	C	16: 13,693,945 (GRCm39)	E159G	possibly damaging	Het
Poln	T	C	5: 34,286,721 (GRCm39)	E149G	probably damaging	Het
Pou5f2	T	G	13: 78,174,024 (GRCm39)	L322R	probably damaging	Het
Ppm1k	A	T	6: 57,501,997 (GRCm39)	S55R	possibly damaging	Het
Ptges2	T	A	2: 32,287,719 (GRCm39)	I149N	probably damaging	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Raet1e	A	T	10: 22,056,666 (GRCm39)	M81L	probably benign	Het
Sipa1l3	A	G	7: 29,098,956 (GRCm39)	S438P	probably damaging	Het
Skint5	T	A	4: 113,799,750 (GRCm39)	K126*	probably null	Het
Stfa2	T	C	16: 36,225,569 (GRCm39)	T37A	probably damaging	Het
Ttll12	A	G	15: 83,465,897 (GRCm39)	I433T	possibly damaging	Het
Vmn2r32	C	T	7: 7,467,116 (GRCm39)	G804D	probably damaging	Het
Zc3h14	A	G	12: 98,740,560 (GRCm39)	T84A	probably benign	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
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
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

Posted On

2015-04-16