Mutagenetix > Incidental Mutation

Incidental Mutation 'R1639:Lrp6'

173368

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

039675-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R1639 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134423439-134543876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134430529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1511 (T1511A)

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: T1511A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032322
Gene: ENSMUSG00000030201
AA Change: T1511A

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

noncoding transcript
Transcript: ENSMUST00000111950

SMART Domains

Protein: ENSMUSP00000107581
Gene: ENSMUSG00000030201

Domain	Start	End	E-Value	Type
LY	11	53	1.41e-5	SMART
LY	59	102	5.32e-1	SMART
LY	103	147	5e-6	SMART
LY	148	190	4.25e-9	SMART
LY	191	231	1.91e-2	SMART
EGF	260	304	1.23e1	SMART
LDLa	302	341	2.42e-12	SMART
LDLa	342	378	4.37e-10	SMART
LDLa	379	416	1.66e-10	SMART
transmembrane domain	425	447	N/A	INTRINSIC
low complexity region	483	492	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
low complexity region	562	578	N/A	INTRINSIC
low complexity region	620	627	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC

Meta Mutation Damage Score

0.0712

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

96% (66/69)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	C	A	2: 155,398,828 (GRCm39)	T425N	probably benign	Het
Adam18	T	A	8: 25,142,168 (GRCm39)	I203L	probably benign	Het
Amigo2	A	G	15: 97,143,879 (GRCm39)	M181T	probably benign	Het
Anks1	T	A	17: 28,277,280 (GRCm39)	I1045N	probably damaging	Het
Ap3d1	C	T	10: 80,565,844 (GRCm39)	V108I	probably damaging	Het
Arl8a	C	T	1: 135,080,561 (GRCm39)	R57*	probably null	Het
Atp12a	A	T	14: 56,621,525 (GRCm39)	D720V	possibly damaging	Het
Brpf3	T	C	17: 29,043,042 (GRCm39)		probably null	Het
C2	T	C	17: 35,091,379 (GRCm39)	K95E	probably benign	Het
Cdk19	T	C	10: 40,352,965 (GRCm39)		probably null	Het
Cebpz	T	A	17: 79,242,035 (GRCm39)	I540L	possibly damaging	Het
Cep128	A	G	12: 91,333,142 (GRCm39)	V41A	probably damaging	Het
Cog7	T	C	7: 121,580,642 (GRCm39)	E56G	probably damaging	Het
Cylc2	T	C	4: 51,228,310 (GRCm39)	V127A	probably benign	Het
Cyp2b23	A	G	7: 26,385,842 (GRCm39)	V5A	possibly damaging	Het
Cyp8b1	A	G	9: 121,743,956 (GRCm39)	Y459H	probably benign	Het
Dbpht2	A	G	12: 74,345,932 (GRCm39)		noncoding transcript	Het
Ddx24	T	C	12: 103,377,578 (GRCm39)		probably null	Het
Dgki	C	T	6: 36,914,299 (GRCm39)	C757Y	probably damaging	Het
Eef2k	T	A	7: 120,485,051 (GRCm39)	L306H	probably damaging	Het
Ephb2	T	C	4: 136,421,216 (GRCm39)	N378S	probably benign	Het
Espl1	C	T	15: 102,229,149 (GRCm39)	T1767I	probably damaging	Het
Fbn2	C	A	18: 58,191,534 (GRCm39)	A1530S	probably benign	Het
Fndc11	A	G	2: 180,863,374 (GRCm39)	S60G	possibly damaging	Het
Glb1l	G	T	1: 75,176,245 (GRCm39)	Q612K	probably benign	Het
Gpsm1	A	G	2: 26,235,199 (GRCm39)	E371G	probably damaging	Het
Gtpbp2	G	A	17: 46,476,697 (GRCm39)		probably null	Het
Itch	A	G	2: 155,020,945 (GRCm39)		probably null	Het
Itga2	T	C	13: 114,993,832 (GRCm39)	T774A	probably benign	Het
Kit	A	G	5: 75,813,467 (GRCm39)	I881V	probably damaging	Het
Lpar5	T	C	6: 125,058,564 (GRCm39)	L95P	probably damaging	Het
Mgat4c	T	C	10: 102,214,142 (GRCm39)	Y42H	probably damaging	Het
Mpp3	G	T	11: 101,914,268 (GRCm39)	T109K	probably damaging	Het
Msantd4	A	G	9: 4,385,199 (GRCm39)	E308G	probably damaging	Het
Mug1	T	C	6: 121,857,530 (GRCm39)	S1085P	probably damaging	Het
Myo5b	A	G	18: 74,840,987 (GRCm39)	H956R	probably benign	Het
Ncoa7	A	C	10: 30,577,988 (GRCm39)	L132R	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Or4a81	T	C	2: 89,619,589 (GRCm39)	T36A	probably damaging	Het
Pkhd1l1	G	A	15: 44,404,351 (GRCm39)	V2327M	probably damaging	Het
Ppp1r9b	T	C	11: 94,887,436 (GRCm39)	Y59H	probably damaging	Het
Sema4c	A	T	1: 36,592,615 (GRCm39)	F152I	probably benign	Het
Slit2	A	T	5: 48,416,996 (GRCm39)	Y1016F	probably damaging	Het
Spata31d1c	T	A	13: 65,183,853 (GRCm39)	V465D	probably benign	Het
Ssc5d	T	C	7: 4,931,416 (GRCm39)	C208R	probably damaging	Het
Stambpl1	T	G	19: 34,213,707 (GRCm39)	V312G	probably benign	Het
Stim1	T	A	7: 102,003,748 (GRCm39)	D60E	probably benign	Het
Syt13	T	A	2: 92,776,316 (GRCm39)	V201D	probably benign	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,060,845 (GRCm39)	S366P	possibly damaging	Het
Tex56	T	C	13: 35,128,233 (GRCm39)	I150T	possibly damaging	Het
Tpte	G	A	8: 22,810,913 (GRCm39)	R190H	probably benign	Het
Vmn1r4	T	C	6: 56,934,060 (GRCm39)	V188A	probably damaging	Het
Vmn2r88	A	G	14: 51,654,244 (GRCm39)	D542G	probably damaging	Het
Vps33b	T	A	7: 79,934,101 (GRCm39)	I257N	probably damaging	Het
Wwox	G	T	8: 115,172,118 (GRCm39)	G71*	probably null	Het
Zc3h11a	G	T	1: 133,552,446 (GRCm39)	Q554K	probably benign	Het
Zfp947	T	C	17: 22,365,074 (GRCm39)	K200R	probably benign	Het
Zscan12	T	A	13: 21,553,156 (GRCm39)	C327S	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
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

Predicted Primers

PCR Primer
(F):5'- TCACGACGCTCTGAACTGTCTTG -3'
(R):5'- CCAGTGACGTAGGTGACCTGTTTTC -3'

Sequencing Primer
(F):5'- ccatctctgatgtgatctgattcc -3'
(R):5'- CCCTGTTCAGGATGGAGAACTG -3'

Posted On

2014-04-24