Mutagenetix > Incidental Mutation

Incidental Mutation 'R7219:Lrp4'

561636

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

045291-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

R7219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91287856-91344124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91322368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1068 (Y1068C)

Ref Sequence

ENSEMBL: ENSMUSP00000028689 (fasta)

Gene Model

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

AlphaFold

Q8VI56

Predicted Effect

probably damaging
Transcript: ENSMUST00000028689
AA Change: Y1068C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: Y1068C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,508 (GRCm39)	S300P	unknown	Het
Abhd17a	T	A	10: 80,420,008 (GRCm39)	K226*	probably null	Het
Alkbh7	T	A	17: 57,305,508 (GRCm39)	H108Q	probably damaging	Het
Ankrd44	A	C	1: 54,806,069 (GRCm39)	H112Q	probably damaging	Het
Capn3	A	G	2: 120,333,935 (GRCm39)	E790G	probably damaging	Het
Cd47	C	A	16: 49,728,440 (GRCm39)	N330K	possibly damaging	Het
Cd55	A	G	1: 130,390,343 (GRCm39)	S22P	possibly damaging	Het
Cdc25a	A	G	9: 109,718,154 (GRCm39)	I373V	probably damaging	Het
Cfap43	T	C	19: 47,779,912 (GRCm39)	I514V	probably benign	Het
Cfap73	A	T	5: 120,768,200 (GRCm39)	M186K	probably benign	Het
Chd9	A	G	8: 91,728,394 (GRCm39)	D1270G	unknown	Het
Ciita	A	G	16: 10,330,121 (GRCm39)	T802A	probably benign	Het
Dlgap2	A	G	8: 14,793,296 (GRCm39)	E430G	probably benign	Het
Dlx1	C	A	2: 71,360,513 (GRCm39)	S59*	probably null	Het
Dnaaf3	T	C	7: 4,531,076 (GRCm39)	N119S	probably damaging	Het
Dnah11	T	G	12: 118,004,830 (GRCm39)	I2164L	possibly damaging	Het
Dnah11	T	C	12: 118,090,624 (GRCm39)	K1079R	probably benign	Het
Dnah12	C	T	14: 26,576,837 (GRCm39)	T3029I	probably damaging	Het
Dppa3	A	T	6: 122,606,918 (GRCm39)	Y136F	probably damaging	Het
Enox1	T	A	14: 77,958,284 (GRCm39)	M611K	probably benign	Het
Fam149a	A	T	8: 45,803,600 (GRCm39)	I378N	possibly damaging	Het
Farp2	T	C	1: 93,488,040 (GRCm39)	F89S	probably damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Frs3	A	G	17: 48,013,620 (GRCm39)	T181A	probably damaging	Het
Heatr4	T	A	12: 84,004,644 (GRCm39)	I726F	possibly damaging	Het
Ighg1	T	G	12: 113,290,216 (GRCm39)	E375A		Het
Ikzf4	G	T	10: 128,470,252 (GRCm39)	Q476K	possibly damaging	Het
Kcnh1	G	T	1: 192,187,945 (GRCm39)	C829F	probably benign	Het
Krtap19-4	T	C	16: 88,681,797 (GRCm39)	Y53C	unknown	Het
Loricrin	C	A	3: 91,988,705 (GRCm39)	G194C	unknown	Het
Lrp1	A	C	10: 127,393,097 (GRCm39)	D2720E	probably benign	Het
Mbnl1	A	G	3: 60,511,244 (GRCm39)	N67D	probably benign	Het
Mrpl21	A	G	19: 3,336,998 (GRCm39)	E123G	probably benign	Het
Mst1	A	T	9: 107,958,485 (GRCm39)	D65V	probably damaging	Het
Myo15b	T	A	11: 115,767,921 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,028,052 (GRCm39)	Y79C	probably damaging	Het
Oas1c	A	T	5: 120,940,957 (GRCm39)	W279R	probably damaging	Het
Or4f4-ps1	A	T	2: 111,330,532 (GRCm39)	M312L	probably benign	Het
Or4k77	A	T	2: 111,199,882 (GRCm39)	I302L	probably benign	Het
Or51f5	A	G	7: 102,430,913 (GRCm39)	I77V	probably benign	Het
Pcdh9	C	T	14: 93,253,216 (GRCm39)	G1149D	possibly damaging	Het
Pcid2	G	A	8: 13,129,907 (GRCm39)	T283I	probably benign	Het
Pdhx	A	G	2: 102,858,760 (GRCm39)	V348A	probably benign	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmb3	T	A	11: 97,602,023 (GRCm39)	M131K	probably null	Het
Raph1	A	G	1: 60,542,032 (GRCm39)	Y309H	unknown	Het
Rasgrf1	A	G	9: 89,866,341 (GRCm39)	N593S	probably damaging	Het
Rbm38	A	C	2: 172,863,990 (GRCm39)	E53A	possibly damaging	Het
Rufy3	A	G	5: 88,797,715 (GRCm39)	T631A	probably benign	Het
Sbno1	A	T	5: 124,543,722 (GRCm39)	D272E	probably benign	Het
Scamp1	T	A	13: 94,361,415 (GRCm39)	Y207F	probably damaging	Het
Scn8a	T	A	15: 100,866,984 (GRCm39)	S263R	probably damaging	Het
Setbp1	T	G	18: 78,798,960 (GRCm39)	T1407P	probably damaging	Het
Skor2	T	C	18: 76,948,096 (GRCm39)	L606P	possibly damaging	Het
Slc35f6	A	G	5: 30,814,796 (GRCm39)	N241S	probably benign	Het
Slc36a2	T	G	11: 55,059,744 (GRCm39)	D247A	probably benign	Het
Smim10l1	T	A	6: 133,084,895 (GRCm39)	F87L	unknown	Het
Son	T	C	16: 91,461,889 (GRCm39)	S2265P	unknown	Het
Spta1	A	G	1: 174,050,203 (GRCm39)	N1748D	probably damaging	Het
Sptbn2	A	G	19: 4,774,201 (GRCm39)	D84G	probably damaging	Het
Tasor2	T	A	13: 3,640,521 (GRCm39)	L205F	probably damaging	Het
Tbc1d24	G	A	17: 24,404,266 (GRCm39)	R293C	probably damaging	Het
Tex15	A	G	8: 34,036,268 (GRCm39)	T65A	probably benign	Het
Thyn1	A	G	9: 26,916,506 (GRCm39)	Y97C	probably damaging	Het
Tmem64	T	C	4: 15,266,700 (GRCm39)	L250P	probably damaging	Het
Tnfrsf9	A	T	4: 151,019,991 (GRCm39)	K217N	probably damaging	Het
Tnxb	A	G	17: 34,898,039 (GRCm39)	T896A	probably benign	Het
Trpm1	T	A	7: 63,854,333 (GRCm39)	I285N	possibly damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
U2surp	G	A	9: 95,372,215 (GRCm39)	R316*	probably null	Het
Ubr2	G	T	17: 47,246,360 (GRCm39)	S1618*	probably null	Het
Ugp2	T	C	11: 21,273,271 (GRCm39)	I449M	probably damaging	Het
Umodl1	A	G	17: 31,201,236 (GRCm39)		probably null	Het
Vmn2r31	C	T	7: 7,390,105 (GRCm39)	V538I	probably benign	Het
Vmn2r31	A	T	7: 7,397,397 (GRCm39)	M287K	probably damaging	Het
Wwc2	A	G	8: 48,311,919 (GRCm39)	V748A	unknown	Het
Zfp800	A	C	6: 28,243,662 (GRCm39)	H434Q	probably benign	Het
Zfp869	A	G	8: 70,159,356 (GRCm39)	C406R	probably damaging	Het
Zhx1	A	G	15: 57,917,733 (GRCm39)	V171A	probably benign	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
R1747:Lrp4	UTSW	2	91,322,966 (GRCm39)	missense	probably damaging	0.98
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
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'- CCTCTTTCCATAGAATAAATGAAGAGG -3'
(R):5'- CTTGGCAGTGACAGCAGGAAC -3'

Sequencing Primer
(F):5'- ATTAGGAGTTGAGGACCCTCC -3'
(R):5'- TGACAGCAGGAACAGAAGGC -3'

Posted On

2019-06-26