Mutagenetix > Incidental Mutation

Incidental Mutation 'R1747:Lrp4'

194030

Institutional Source

Beutler Lab

Gene Symbol

Lrp4

Ensembl Gene

ENSMUSG00000027253

Gene Name

low density lipoprotein receptor-related protein 4

Synonyms

6430526J12Rik, Megf7, mdig

MMRRC Submission

039779-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R1747 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91287856-91344124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91322966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1150 (V1150A)

Ref Sequence

ENSEMBL: ENSMUSP00000028689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028689]

AlphaFold

Q8VI56

Predicted Effect

probably damaging
Transcript: ENSMUST00000028689
AA Change: V1150A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: V1150A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LDLa	26	68	5.77e-10	SMART
LDLa	70	107	4.05e-14	SMART
LDLa	109	145	1.9e-10	SMART
LDLa	147	184	1.51e-13	SMART
LDLa	190	227	6.83e-12	SMART
LDLa	230	267	2.45e-13	SMART
LDLa	269	306	6.32e-16	SMART
LDLa	311	351	3.24e-13	SMART
EGF	357	394	1.4e0	SMART
EGF_CA	395	434	1.05e-8	SMART
LY	460	502	7.01e-10	SMART
LY	503	545	4.41e-16	SMART
LY	546	589	1.04e-12	SMART
LY	590	632	5.07e-16	SMART
LY	633	674	3.12e-7	SMART
EGF	701	737	9.27e-1	SMART
LY	765	807	7.29e-8	SMART
LY	808	850	1.92e-16	SMART
LY	851	894	3.05e-10	SMART
LY	895	937	6.69e-16	SMART
LY	938	979	8.71e-6	SMART
EGF	1005	1044	1.64e-1	SMART
LY	1073	1115	2.58e-8	SMART
LY	1116	1158	1.57e-12	SMART
LY	1159	1202	7.4e-9	SMART
LY	1203	1245	9.39e-11	SMART
LY	1246	1285	6.11e-1	SMART
EGF	1312	1349	1.53e-1	SMART
LY	1377	1419	4.42e-7	SMART
LY	1420	1462	1.04e-12	SMART
LY	1463	1506	2.11e-13	SMART
LY	1507	1549	4.66e-15	SMART
LY	1550	1590	2.02e-1	SMART
EGF_like	1616	1649	5.79e1	SMART
low complexity region	1674	1690	N/A	INTRINSIC
transmembrane domain	1724	1746	N/A	INTRINSIC
low complexity region	1857	1870	N/A	INTRINSIC

Meta Mutation Damage Score

0.5828

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (65/67)

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 receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	T	8: 13,608,814 (GRCm39)	S117N	probably damaging	Het
Acat3	A	G	17: 13,143,695 (GRCm39)	I349T	possibly damaging	Het
Add3	A	G	19: 53,230,981 (GRCm39)	N552S	probably benign	Het
Ak3	G	T	19: 29,000,261 (GRCm39)	P217T	possibly damaging	Het
Aox1	A	T	1: 58,378,751 (GRCm39)	D1000V	probably benign	Het
Ap1m2	A	G	9: 21,216,982 (GRCm39)	M118T	probably damaging	Het
Arhgap28	C	A	17: 68,208,304 (GRCm39)	A105S	probably benign	Het
Arhgef28	T	C	13: 98,073,332 (GRCm39)	E1368G	probably damaging	Het
Armc7	G	A	11: 115,379,583 (GRCm39)	V94I	probably benign	Het
Asxl1	C	A	2: 153,235,374 (GRCm39)	T223N	possibly damaging	Het
Btbd8	T	C	5: 107,599,865 (GRCm39)	S119P	probably damaging	Het
Cltc	T	C	11: 86,597,907 (GRCm39)	K1078E	probably damaging	Het
Cpne8	G	A	15: 90,469,118 (GRCm39)	T158I	probably benign	Het
Csn1s2b	T	C	5: 87,964,529 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,041,568 (GRCm39)	I371V	probably benign	Het
Dennd4c	T	C	4: 86,725,675 (GRCm39)	F710L	probably damaging	Het
Diaph3	T	C	14: 87,310,773 (GRCm39)	D126G	probably damaging	Het
Dnm3	G	A	1: 162,141,153 (GRCm39)	R369C	probably damaging	Het
Dst	A	C	1: 34,199,790 (GRCm39)	Q86P	probably damaging	Het
Ern2	C	A	7: 121,773,042 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,773,043 (GRCm39)		probably null	Het
Exoc6	T	A	19: 37,628,217 (GRCm39)		probably null	Het
Glg1	G	A	8: 111,924,305 (GRCm39)	R228C	probably damaging	Het
Gm4736	G	A	6: 132,092,633 (GRCm39)		noncoding transcript	Het
Hmcn2	G	C	2: 31,347,997 (GRCm39)	G4881A	probably benign	Het
Htr2a	T	G	14: 74,943,593 (GRCm39)	F391C	probably damaging	Het
Htr5b	A	T	1: 121,455,647 (GRCm39)	V91E	probably damaging	Het
Ifi44	T	A	3: 151,454,922 (GRCm39)	H101L	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl6	T	A	16: 19,765,778 (GRCm39)	H608L	probably benign	Het
Lyst	T	C	13: 13,932,007 (GRCm39)	F3545S	probably benign	Het
Magi3	T	C	3: 103,941,489 (GRCm39)	D822G	possibly damaging	Het
Nbas	G	A	12: 13,385,899 (GRCm39)	S721N	probably benign	Het
Nog	T	A	11: 89,192,408 (GRCm39)	M147L	probably benign	Het
Npr1	C	T	3: 90,365,976 (GRCm39)	C605Y	possibly damaging	Het
Or7e173	A	C	9: 19,938,613 (GRCm39)	V207G	probably benign	Het
Or8k21	G	A	2: 86,145,211 (GRCm39)	L140F	probably benign	Het
Pgs1	A	G	11: 117,892,457 (GRCm39)	S10G	probably benign	Het
Pla2g4c	T	C	7: 13,071,655 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,627 (GRCm39)	V371I	possibly damaging	Het
Prom1	C	T	5: 44,164,373 (GRCm39)	V703I	probably benign	Het
Ptprk	A	G	10: 28,230,688 (GRCm39)	T260A	possibly damaging	Het
Scnn1g	A	T	7: 121,359,686 (GRCm39)	I390F	probably damaging	Het
Scrt2	C	T	2: 151,935,638 (GRCm39)	H264Y	probably damaging	Het
Sel1l3	C	T	5: 53,302,887 (GRCm39)	E661K	possibly damaging	Het
Skic2	G	T	17: 35,066,782 (GRCm39)	P162H	probably benign	Het
Slc10a5	G	T	3: 10,400,451 (GRCm39)	Q70K	probably benign	Het
Smg8	A	G	11: 86,976,129 (GRCm39)	V484A	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Stag1	T	A	9: 100,770,353 (GRCm39)	S630T	probably benign	Het
Thyn1	A	C	9: 26,916,509 (GRCm39)	Q98P	probably damaging	Het
Ttc7	A	G	17: 87,614,443 (GRCm39)	R203G	possibly damaging	Het
Ttn	T	C	2: 76,708,860 (GRCm39)		probably benign	Het
Vmn1r236	C	T	17: 21,507,179 (GRCm39)	S99L	probably benign	Het
Vmn2r50	T	A	7: 9,781,605 (GRCm39)	H380L	probably benign	Het
Vmn2r73	A	T	7: 85,507,375 (GRCm39)	C646S	probably damaging	Het
Wnt10b	A	G	15: 98,672,214 (GRCm39)	S168P	probably benign	Het
Zc3h7a	A	G	16: 10,963,117 (GRCm39)	M748T	possibly damaging	Het
Zfp804b	C	G	5: 6,820,217 (GRCm39)	E913Q	probably benign	Het
Zfp974	G	T	7: 27,610,506 (GRCm39)	F406L	possibly damaging	Het
Zic4	G	A	9: 91,266,199 (GRCm39)	C274Y	probably damaging	Het

Other mutations in Lrp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Lrp4	APN	2	91,325,371 (GRCm39)	missense	probably benign
IGL00509:Lrp4	APN	2	91,316,519 (GRCm39)	splice site	probably benign
IGL01145:Lrp4	APN	2	91,317,396 (GRCm39)	missense	probably damaging	1.00
IGL01287:Lrp4	APN	2	91,304,293 (GRCm39)	missense	probably damaging	1.00
IGL01531:Lrp4	APN	2	91,341,898 (GRCm39)	missense	probably damaging	1.00
IGL01534:Lrp4	APN	2	91,303,986 (GRCm39)	missense	probably damaging	1.00
IGL01544:Lrp4	APN	2	91,307,896 (GRCm39)	missense	probably damaging	1.00
IGL01761:Lrp4	APN	2	91,312,326 (GRCm39)	critical splice donor site	probably null
IGL01885:Lrp4	APN	2	91,331,452 (GRCm39)	missense	probably benign	0.05
IGL01909:Lrp4	APN	2	91,324,529 (GRCm39)	missense	possibly damaging	0.50
IGL02111:Lrp4	APN	2	91,336,404 (GRCm39)	missense	probably damaging	1.00
IGL02385:Lrp4	APN	2	91,305,065 (GRCm39)	missense	possibly damaging	0.89
IGL02403:Lrp4	APN	2	91,338,927 (GRCm39)	missense	probably benign	0.05
IGL02431:Lrp4	APN	2	91,306,982 (GRCm39)	missense	possibly damaging	0.95
IGL02452:Lrp4	APN	2	91,304,347 (GRCm39)	missense	probably damaging	1.00
IGL02798:Lrp4	APN	2	91,307,055 (GRCm39)	missense	probably benign	0.02
IGL02828:Lrp4	APN	2	91,305,639 (GRCm39)	missense	probably benign
IGL02832:Lrp4	APN	2	91,341,925 (GRCm39)	missense	probably damaging	1.00
IGL02893:Lrp4	APN	2	91,305,161 (GRCm39)	missense	possibly damaging	0.76
artiodactyl	UTSW	2	91,325,339 (GRCm39)	missense	probably damaging	0.99
bubalus	UTSW	2	91,325,300 (GRCm39)	missense	possibly damaging	0.71
riverhorse	UTSW	2	91,310,666 (GRCm39)	missense	probably damaging	1.00
wallow	UTSW	2	91,308,043 (GRCm39)	missense	probably benign	0.09
F5770:Lrp4	UTSW	2	91,318,863 (GRCm39)	missense	possibly damaging	0.96
R0037:Lrp4	UTSW	2	91,301,548 (GRCm39)	missense	probably benign	0.22
R0037:Lrp4	UTSW	2	91,301,548 (GRCm39)	missense	probably benign	0.22
R0137:Lrp4	UTSW	2	91,325,327 (GRCm39)	missense	probably damaging	1.00
R0265:Lrp4	UTSW	2	91,321,015 (GRCm39)	missense	probably damaging	1.00
R0368:Lrp4	UTSW	2	91,308,079 (GRCm39)	missense	probably damaging	0.99
R0531:Lrp4	UTSW	2	91,305,523 (GRCm39)	splice site	probably benign
R0827:Lrp4	UTSW	2	91,325,386 (GRCm39)	missense	probably damaging	1.00
R1029:Lrp4	UTSW	2	91,317,372 (GRCm39)	splice site	probably benign
R1183:Lrp4	UTSW	2	91,307,864 (GRCm39)	critical splice acceptor site	probably null
R1587:Lrp4	UTSW	2	91,306,650 (GRCm39)	missense	probably benign	0.26
R1693:Lrp4	UTSW	2	91,322,698 (GRCm39)	missense	probably damaging	1.00
R1863:Lrp4	UTSW	2	91,328,708 (GRCm39)	missense	probably benign	0.15
R1908:Lrp4	UTSW	2	91,328,753 (GRCm39)	missense	possibly damaging	0.93
R1909:Lrp4	UTSW	2	91,328,753 (GRCm39)	missense	possibly damaging	0.93
R1932:Lrp4	UTSW	2	91,327,700 (GRCm39)	nonsense	probably null
R1934:Lrp4	UTSW	2	91,310,777 (GRCm39)	missense	probably damaging	1.00
R2358:Lrp4	UTSW	2	91,332,299 (GRCm39)	missense	probably benign	0.01
R2433:Lrp4	UTSW	2	91,336,360 (GRCm39)	missense	probably benign	0.00
R2698:Lrp4	UTSW	2	91,305,557 (GRCm39)	missense	probably damaging	0.99
R2919:Lrp4	UTSW	2	91,321,075 (GRCm39)	missense	probably benign	0.01
R3105:Lrp4	UTSW	2	91,331,394 (GRCm39)	missense	probably benign
R3709:Lrp4	UTSW	2	91,320,811 (GRCm39)	missense	possibly damaging	0.60
R3711:Lrp4	UTSW	2	91,332,299 (GRCm39)	missense	probably benign	0.01
R3735:Lrp4	UTSW	2	91,328,716 (GRCm39)	missense	probably damaging	1.00
R3808:Lrp4	UTSW	2	91,307,047 (GRCm39)	missense	probably damaging	0.99
R3894:Lrp4	UTSW	2	91,304,294 (GRCm39)	missense	probably damaging	1.00
R3895:Lrp4	UTSW	2	91,304,294 (GRCm39)	missense	probably damaging	1.00
R4397:Lrp4	UTSW	2	91,342,015 (GRCm39)	missense	probably benign	0.20
R4741:Lrp4	UTSW	2	91,341,912 (GRCm39)	missense	probably damaging	1.00
R4948:Lrp4	UTSW	2	91,316,231 (GRCm39)	missense	probably benign
R5050:Lrp4	UTSW	2	91,322,767 (GRCm39)	missense	probably benign	0.22
R5096:Lrp4	UTSW	2	91,316,137 (GRCm39)	missense	possibly damaging	0.65
R5110:Lrp4	UTSW	2	91,327,417 (GRCm39)	missense	possibly damaging	0.48
R5141:Lrp4	UTSW	2	91,309,023 (GRCm39)	splice site	probably benign
R5439:Lrp4	UTSW	2	91,327,418 (GRCm39)	missense	probably benign	0.14
R5725:Lrp4	UTSW	2	91,325,240 (GRCm39)	missense	probably damaging	1.00
R5795:Lrp4	UTSW	2	91,304,816 (GRCm39)	missense	probably benign	0.01
R5820:Lrp4	UTSW	2	91,322,960 (GRCm39)	missense	probably damaging	0.99
R5883:Lrp4	UTSW	2	91,318,778 (GRCm39)	missense	probably benign	0.01
R5919:Lrp4	UTSW	2	91,303,552 (GRCm39)	missense	probably damaging	1.00
R5925:Lrp4	UTSW	2	91,342,029 (GRCm39)	missense	probably benign	0.01
R6080:Lrp4	UTSW	2	91,332,345 (GRCm39)	missense	probably benign
R6189:Lrp4	UTSW	2	91,305,579 (GRCm39)	missense	possibly damaging	0.63
R6192:Lrp4	UTSW	2	91,338,833 (GRCm39)	missense	probably benign	0.00
R6319:Lrp4	UTSW	2	91,310,666 (GRCm39)	missense	probably damaging	1.00
R6378:Lrp4	UTSW	2	91,324,174 (GRCm39)	missense	probably benign	0.18
R6479:Lrp4	UTSW	2	91,317,429 (GRCm39)	missense	probably damaging	0.96
R6500:Lrp4	UTSW	2	91,322,765 (GRCm39)	missense	possibly damaging	0.90
R6643:Lrp4	UTSW	2	91,332,340 (GRCm39)	missense	probably benign
R6657:Lrp4	UTSW	2	91,322,398 (GRCm39)	missense	probably benign	0.00
R6696:Lrp4	UTSW	2	91,327,690 (GRCm39)	missense	probably benign	0.03
R6714:Lrp4	UTSW	2	91,306,710 (GRCm39)	missense	possibly damaging	0.90
R6734:Lrp4	UTSW	2	91,316,242 (GRCm39)	missense	possibly damaging	0.79
R6770:Lrp4	UTSW	2	91,327,648 (GRCm39)	missense	probably benign	0.33
R6774:Lrp4	UTSW	2	91,341,849 (GRCm39)	missense	probably benign	0.01
R6957:Lrp4	UTSW	2	91,317,387 (GRCm39)	missense	probably damaging	0.99
R6978:Lrp4	UTSW	2	91,322,343 (GRCm39)	missense	probably damaging	1.00
R7065:Lrp4	UTSW	2	91,341,925 (GRCm39)	missense	probably damaging	1.00
R7142:Lrp4	UTSW	2	91,325,339 (GRCm39)	missense	probably damaging	0.99
R7219:Lrp4	UTSW	2	91,322,368 (GRCm39)	missense	probably damaging	1.00
R7237:Lrp4	UTSW	2	91,303,528 (GRCm39)	missense	probably benign	0.04
R7387:Lrp4	UTSW	2	91,306,959 (GRCm39)	missense	probably benign
R7585:Lrp4	UTSW	2	91,322,933 (GRCm39)	missense	probably damaging	1.00
R7835:Lrp4	UTSW	2	91,325,387 (GRCm39)	missense	possibly damaging	0.82
R7872:Lrp4	UTSW	2	91,321,061 (GRCm39)	missense	possibly damaging	0.54
R7968:Lrp4	UTSW	2	91,324,424 (GRCm39)	missense	possibly damaging	0.74
R8222:Lrp4	UTSW	2	91,305,086 (GRCm39)	missense	probably damaging	1.00
R8338:Lrp4	UTSW	2	91,322,713 (GRCm39)	missense	probably benign	0.15
R8342:Lrp4	UTSW	2	91,318,790 (GRCm39)	missense	probably damaging	1.00
R8435:Lrp4	UTSW	2	91,307,998 (GRCm39)	missense	probably damaging	1.00
R8720:Lrp4	UTSW	2	91,324,459 (GRCm39)	missense	probably damaging	1.00
R8774:Lrp4	UTSW	2	91,308,043 (GRCm39)	missense	probably benign	0.09
R8774-TAIL:Lrp4	UTSW	2	91,308,043 (GRCm39)	missense	probably benign	0.09
R8792:Lrp4	UTSW	2	91,325,300 (GRCm39)	missense	possibly damaging	0.71
R8913:Lrp4	UTSW	2	91,331,785 (GRCm39)	missense	probably benign	0.11
R9017:Lrp4	UTSW	2	91,324,397 (GRCm39)	missense	possibly damaging	0.51
R9062:Lrp4	UTSW	2	91,303,925 (GRCm39)	missense	possibly damaging	0.46
R9118:Lrp4	UTSW	2	91,308,927 (GRCm39)	missense	possibly damaging	0.91
R9640:Lrp4	UTSW	2	91,316,296 (GRCm39)	missense	probably benign	0.02
R9649:Lrp4	UTSW	2	91,338,914 (GRCm39)	missense	possibly damaging	0.46
R9708:Lrp4	UTSW	2	91,342,076 (GRCm39)	missense	probably benign	0.02
R9748:Lrp4	UTSW	2	91,316,116 (GRCm39)	missense	probably damaging	0.99
R9776:Lrp4	UTSW	2	91,316,179 (GRCm39)	missense	probably damaging	1.00
V7580:Lrp4	UTSW	2	91,318,863 (GRCm39)	missense	possibly damaging	0.96
V7581:Lrp4	UTSW	2	91,318,863 (GRCm39)	missense	possibly damaging	0.96
V7582:Lrp4	UTSW	2	91,318,863 (GRCm39)	missense	possibly damaging	0.96
V7583:Lrp4	UTSW	2	91,318,863 (GRCm39)	missense	possibly damaging	0.96
X0021:Lrp4	UTSW	2	91,331,407 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GCTCACAGCATGAGGACATCATCAC -3'
(R):5'- TTGCATCCTGTCTACTGATGGCAAG -3'

Sequencing Primer
(F):5'- GGACATCATCACTACAGGTGAGC -3'
(R):5'- GGCAAGGCTCATGCTTTAAC -3'

Posted On

2014-05-23