Mutagenetix > Incidental Mutation

Incidental Mutation 'R9089:Lrp6'

690816

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

068907-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R9089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134423439-134543876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 134488169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 309 (A309G)

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: A309G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: A309G

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

Meta Mutation Damage Score

0.1695

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	A	17: 48,347,951 (GRCm39)	R118*	probably null	Het
Acadsb	T	C	7: 131,027,504 (GRCm39)	V68A	probably damaging	Het
Adgb	T	C	10: 10,318,432 (GRCm39)	R137G	probably benign	Het
Adgrl3	C	A	5: 81,808,291 (GRCm39)	N622K	possibly damaging	Het
Ager	C	A	17: 34,819,579 (GRCm39)	P366T	probably benign	Het
Barx2	C	A	9: 31,765,443 (GRCm39)	W184L	probably damaging	Het
Bckdha	A	C	7: 25,341,144 (GRCm39)	N72K	probably benign	Het
Blm	A	T	7: 80,162,867 (GRCm39)	D161E	probably damaging	Het
Ccdc121rt2	A	T	5: 112,598,757 (GRCm39)	R435W	probably damaging	Het
Cd96	G	T	16: 45,870,068 (GRCm39)	T467N	probably benign	Het
Cdk13	A	T	13: 17,978,444 (GRCm39)	S265T	unknown	Het
Col6a5	A	C	9: 105,766,142 (GRCm39)	I1926S	probably damaging	Het
Csgalnact2	A	T	6: 118,097,983 (GRCm39)	V361D	probably damaging	Het
Cstf1	T	A	2: 172,217,807 (GRCm39)	M140K		Het
Ddx41	A	T	13: 55,683,424 (GRCm39)	S128T	probably benign	Het
Deaf1	A	T	7: 140,877,465 (GRCm39)	V554D	probably damaging	Het
Dido1	C	T	2: 180,303,293 (GRCm39)	S1537N	probably benign	Het
Dmwd	T	C	7: 18,811,980 (GRCm39)	S145P	probably damaging	Het
Eftud2	A	G	11: 102,759,971 (GRCm39)	S125P	probably benign	Het
Gga1	A	G	15: 78,773,952 (GRCm39)	D325G	probably damaging	Het
Gm43518	T	C	5: 124,072,329 (GRCm39)		probably null	Het
Got1l1	A	T	8: 27,690,889 (GRCm39)	V53E	probably damaging	Het
Helz2	A	T	2: 180,881,433 (GRCm39)	C350S	probably damaging	Het
Ipo7	T	A	7: 109,643,666 (GRCm39)	F398I	possibly damaging	Het
Itga11	A	G	9: 62,678,662 (GRCm39)	N943S	probably damaging	Het
Itpa	T	A	2: 130,509,857 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kbtbd4	A	T	2: 90,737,909 (GRCm39)	N220Y	possibly damaging	Het
Kdm5b	T	A	1: 134,535,506 (GRCm39)	F594L	probably damaging	Het
Klhdc4	C	T	8: 122,524,684 (GRCm39)	V446I	probably benign	Het
Klk1b1	A	G	7: 43,620,668 (GRCm39)	I253V	possibly damaging	Het
Kynu	T	A	2: 43,489,620 (GRCm39)	M135K	probably damaging	Het
Lgi1	T	C	19: 38,294,095 (GRCm39)	I289T	possibly damaging	Het
Lhx2	A	G	2: 38,250,045 (GRCm39)	N288S	probably damaging	Het
Map2	T	A	1: 66,452,098 (GRCm39)	N329K	probably benign	Het
Med15	G	A	16: 17,473,421 (GRCm39)	P476L	unknown	Het
Muc16	A	T	9: 18,555,846 (GRCm39)	N3482K	unknown	Het
Nemf	A	C	12: 69,400,628 (GRCm39)	V149G	probably damaging	Het
Notch3	T	C	17: 32,370,521 (GRCm39)	S706G	probably benign	Het
Nphp4	T	C	4: 152,645,673 (GRCm39)	V1227A	possibly damaging	Het
Or1e31	A	G	11: 73,690,052 (GRCm39)	F177S	probably damaging	Het
Or2a52	A	T	6: 43,144,917 (GRCm39)	R308S	probably benign	Het
Or6c70	A	G	10: 129,710,488 (GRCm39)	L46P	probably damaging	Het
Parp2	A	G	14: 51,052,327 (GRCm39)	T102A	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,264 (GRCm39)	V555A	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ralgapa1	A	C	12: 55,723,351 (GRCm39)	L1725R	probably damaging	Het
Reln	G	T	5: 22,130,198 (GRCm39)	D2704E	probably benign	Het
Sart3	C	A	5: 113,891,756 (GRCm39)	E405D	possibly damaging	Het
Scin	A	T	12: 40,131,703 (GRCm39)	L277*	probably null	Het
Sec62	T	A	3: 30,868,383 (GRCm39)	V204E	probably benign	Het
Serpina3a	T	C	12: 104,085,956 (GRCm39)	I137T	possibly damaging	Het
Sh3rf1	T	C	8: 61,825,613 (GRCm39)	M536T	probably benign	Het
Slc45a4	T	C	15: 73,457,953 (GRCm39)	H532R	probably damaging	Het
Svs5	A	G	2: 164,079,341 (GRCm39)	F189L	probably benign	Het
Synm	T	C	7: 67,408,766 (GRCm39)	D204G	probably damaging	Het
Tmtc1	A	T	6: 148,147,215 (GRCm39)	H827Q	possibly damaging	Het
Tnfrsf25	T	A	4: 152,201,929 (GRCm39)	C135*	probably null	Het
Unc13b	T	G	4: 43,095,847 (GRCm39)	I85S	probably damaging	Het
Ush2a	T	A	1: 188,487,374 (GRCm39)	Y3047*	probably null	Het
Vmn1r75	T	C	7: 11,614,453 (GRCm39)	S62P	probably damaging	Het
Vps50	T	C	6: 3,536,884 (GRCm39)	V285A	probably benign	Het
Vwa5b1	T	A	4: 138,296,742 (GRCm39)	D1095V	probably benign	Het
Zdhhc21	T	A	4: 82,725,292 (GRCm39)	D208V	probably damaging	Het
Zfp422	A	C	6: 116,604,086 (GRCm39)		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
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
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
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'- AGTGACTAGCCTCCCAAAGTAC -3'
(R):5'- TGCTTGGTAGTCAAACACCTGG -3'

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

Posted On

2021-12-30