Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Lrp4'

34831

Institutional Source

Beutler Lab

Gene Symbol

Lrp4

Ensembl Gene

ENSMUSG00000027253

Gene Name

low density lipoprotein receptor-related protein 4

Synonyms

mdig, Megf7

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.663) question?

Stock #

R0265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91457511-91513779 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91490670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 1014 (S1014C)

Ref Sequence

ENSEMBL: ENSMUSP00000028689 (fasta)

Gene Model

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

AlphaFold

Q8VI56

Predicted Effect

probably damaging
Transcript: ENSMUST00000028689
AA Change: S1014C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: S1014C

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

0.8315

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681	L486P	probably damaging	Het
Abca14	A	G	7: 120,223,627	I321V	probably benign	Het
Adcy7	A	G	8: 88,324,763	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524		probably benign	Het
Ap3b1	A	G	13: 94,493,681	K815E	unknown	Het
Atp11a	A	T	8: 12,856,930		probably benign	Het
Atp6v0a1	A	T	11: 101,048,515	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287		probably benign	Het
Dnah8	A	T	17: 30,690,271	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809	Q373*	probably null	Het
Fry	T	C	5: 150,434,776	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614	Y417N	probably damaging	Het
Golga2	C	A	2: 32,304,952		probably null	Het
Grip2	C	A	6: 91,773,792		probably null	Het
Gsx2	A	G	5: 75,077,068	Y227C	probably damaging	Het
Hif3a	T	C	7: 17,035,868	*665W	probably null	Het
Hist1h2aa	T	C	13: 23,934,649	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008		probably benign	Het
Inpp4a	A	T	1: 37,378,986	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459	D554E	probably benign	Het
Itk	G	A	11: 46,389,458		probably benign	Het
Kdm3b	T	A	18: 34,795,663		probably benign	Het
Klhl6	A	G	16: 19,948,234	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242	I41N	probably damaging	Het
Ltbp2	C	T	12: 84,785,969		probably null	Het
Map3k19	A	G	1: 127,822,182	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163		probably benign	Het
Mocos	A	G	18: 24,666,276	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897		probably null	Het
Nos2	A	T	11: 78,937,602	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334	M184T	probably benign	Het
Nvl	C	A	1: 181,134,830	D192Y	probably damaging	Het
Olfr1024	T	A	2: 85,904,247	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424	V123A	probably damaging	Het
P4ha1	A	G	10: 59,348,259	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659	S676P	probably benign	Het
Rfx8	T	C	1: 39,688,577	E196G	possibly damaging	Het
Rreb1	A	T	13: 37,916,155	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066		probably benign	Het
Skor2	A	T	18: 76,876,598	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,169,970	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337		probably benign	Het
Supt7l	C	T	5: 31,515,918	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165		probably benign	Het
Tcn2	A	T	11: 3,922,044	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160	Y648*	probably null	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Upf2	G	A	2: 6,027,204		probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406		probably benign	Het
Zfp704	C	A	3: 9,565,157	R48L	probably damaging	Het

Other mutations in Lrp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Lrp4	APN	2	91495026	missense	probably benign
IGL00509:Lrp4	APN	2	91486174	splice site	probably benign
IGL01145:Lrp4	APN	2	91487051	missense	probably damaging	1.00
IGL01287:Lrp4	APN	2	91473948	missense	probably damaging	1.00
IGL01531:Lrp4	APN	2	91511553	missense	probably damaging	1.00
IGL01534:Lrp4	APN	2	91473641	missense	probably damaging	1.00
IGL01544:Lrp4	APN	2	91477551	missense	probably damaging	1.00
IGL01761:Lrp4	APN	2	91481981	critical splice donor site	probably null
IGL01885:Lrp4	APN	2	91501107	missense	probably benign	0.05
IGL01909:Lrp4	APN	2	91494184	missense	possibly damaging	0.50
IGL02111:Lrp4	APN	2	91506059	missense	probably damaging	1.00
IGL02385:Lrp4	APN	2	91474720	missense	possibly damaging	0.89
IGL02403:Lrp4	APN	2	91508582	missense	probably benign	0.05
IGL02431:Lrp4	APN	2	91476637	missense	possibly damaging	0.95
IGL02452:Lrp4	APN	2	91474002	missense	probably damaging	1.00
IGL02798:Lrp4	APN	2	91476710	missense	probably benign	0.02
IGL02828:Lrp4	APN	2	91475294	missense	probably benign
IGL02832:Lrp4	APN	2	91511580	missense	probably damaging	1.00
IGL02893:Lrp4	APN	2	91474816	missense	possibly damaging	0.76
artiodactyl	UTSW	2	91494994	missense	probably damaging	0.99
bubalus	UTSW	2	91494955	missense	possibly damaging	0.71
riverhorse	UTSW	2	91480321	missense	probably damaging	1.00
wallow	UTSW	2	91477698	missense	probably benign	0.09
F5770:Lrp4	UTSW	2	91488518	missense	possibly damaging	0.96
R0037:Lrp4	UTSW	2	91471203	missense	probably benign	0.22
R0037:Lrp4	UTSW	2	91471203	missense	probably benign	0.22
R0137:Lrp4	UTSW	2	91494982	missense	probably damaging	1.00
R0368:Lrp4	UTSW	2	91477734	missense	probably damaging	0.99
R0531:Lrp4	UTSW	2	91475178	splice site	probably benign
R0827:Lrp4	UTSW	2	91495041	missense	probably damaging	1.00
R1029:Lrp4	UTSW	2	91487027	splice site	probably benign
R1183:Lrp4	UTSW	2	91477519	critical splice acceptor site	probably null
R1587:Lrp4	UTSW	2	91476305	missense	probably benign	0.26
R1693:Lrp4	UTSW	2	91492353	missense	probably damaging	1.00
R1747:Lrp4	UTSW	2	91492621	missense	probably damaging	0.98
R1863:Lrp4	UTSW	2	91498363	missense	probably benign	0.15
R1908:Lrp4	UTSW	2	91498408	missense	possibly damaging	0.93
R1909:Lrp4	UTSW	2	91498408	missense	possibly damaging	0.93
R1932:Lrp4	UTSW	2	91497355	nonsense	probably null
R1934:Lrp4	UTSW	2	91480432	missense	probably damaging	1.00
R2358:Lrp4	UTSW	2	91501954	missense	probably benign	0.01
R2433:Lrp4	UTSW	2	91506015	missense	probably benign	0.00
R2698:Lrp4	UTSW	2	91475212	missense	probably damaging	0.99
R2919:Lrp4	UTSW	2	91490730	missense	probably benign	0.01
R3105:Lrp4	UTSW	2	91501049	missense	probably benign
R3709:Lrp4	UTSW	2	91490466	missense	possibly damaging	0.60
R3711:Lrp4	UTSW	2	91501954	missense	probably benign	0.01
R3735:Lrp4	UTSW	2	91498371	missense	probably damaging	1.00
R3808:Lrp4	UTSW	2	91476702	missense	probably damaging	0.99
R3894:Lrp4	UTSW	2	91473949	missense	probably damaging	1.00
R3895:Lrp4	UTSW	2	91473949	missense	probably damaging	1.00
R4397:Lrp4	UTSW	2	91511670	missense	probably benign	0.20
R4741:Lrp4	UTSW	2	91511567	missense	probably damaging	1.00
R4948:Lrp4	UTSW	2	91485886	missense	probably benign
R5050:Lrp4	UTSW	2	91492422	missense	probably benign	0.22
R5096:Lrp4	UTSW	2	91485792	missense	possibly damaging	0.65
R5110:Lrp4	UTSW	2	91497072	missense	possibly damaging	0.48
R5141:Lrp4	UTSW	2	91478678	splice site	probably benign
R5439:Lrp4	UTSW	2	91497073	missense	probably benign	0.14
R5725:Lrp4	UTSW	2	91494895	missense	probably damaging	1.00
R5795:Lrp4	UTSW	2	91474471	missense	probably benign	0.01
R5820:Lrp4	UTSW	2	91492615	missense	probably damaging	0.99
R5883:Lrp4	UTSW	2	91488433	missense	probably benign	0.01
R5919:Lrp4	UTSW	2	91473207	missense	probably damaging	1.00
R5925:Lrp4	UTSW	2	91511684	missense	probably benign	0.01
R6080:Lrp4	UTSW	2	91502000	missense	probably benign
R6189:Lrp4	UTSW	2	91475234	missense	possibly damaging	0.63
R6192:Lrp4	UTSW	2	91508488	missense	probably benign	0.00
R6319:Lrp4	UTSW	2	91480321	missense	probably damaging	1.00
R6378:Lrp4	UTSW	2	91493829	missense	probably benign	0.18
R6479:Lrp4	UTSW	2	91487084	missense	probably damaging	0.96
R6500:Lrp4	UTSW	2	91492420	missense	possibly damaging	0.90
R6643:Lrp4	UTSW	2	91501995	missense	probably benign
R6657:Lrp4	UTSW	2	91492053	missense	probably benign	0.00
R6696:Lrp4	UTSW	2	91497345	missense	probably benign	0.03
R6714:Lrp4	UTSW	2	91476365	missense	possibly damaging	0.90
R6734:Lrp4	UTSW	2	91485897	missense	possibly damaging	0.79
R6770:Lrp4	UTSW	2	91497303	missense	probably benign	0.33
R6774:Lrp4	UTSW	2	91511504	missense	probably benign	0.01
R6957:Lrp4	UTSW	2	91487042	missense	probably damaging	0.99
R6978:Lrp4	UTSW	2	91491998	missense	probably damaging	1.00
R7065:Lrp4	UTSW	2	91511580	missense	probably damaging	1.00
R7142:Lrp4	UTSW	2	91494994	missense	probably damaging	0.99
R7219:Lrp4	UTSW	2	91492023	missense	probably damaging	1.00
R7237:Lrp4	UTSW	2	91473183	missense	probably benign	0.04
R7387:Lrp4	UTSW	2	91476614	missense	probably benign
R7585:Lrp4	UTSW	2	91492588	missense	probably damaging	1.00
R7835:Lrp4	UTSW	2	91495042	missense	possibly damaging	0.82
R7872:Lrp4	UTSW	2	91490716	missense	possibly damaging	0.54
R7968:Lrp4	UTSW	2	91494079	missense	possibly damaging	0.74
R8222:Lrp4	UTSW	2	91474741	missense	probably damaging	1.00
R8338:Lrp4	UTSW	2	91492368	missense	probably benign	0.15
R8342:Lrp4	UTSW	2	91488445	missense	probably damaging	1.00
R8435:Lrp4	UTSW	2	91477653	missense	probably damaging	1.00
R8720:Lrp4	UTSW	2	91494114	missense	probably damaging	1.00
R8774:Lrp4	UTSW	2	91477698	missense	probably benign	0.09
R8774-TAIL:Lrp4	UTSW	2	91477698	missense	probably benign	0.09
R8792:Lrp4	UTSW	2	91494955	missense	possibly damaging	0.71
R8913:Lrp4	UTSW	2	91501440	missense	probably benign	0.11
R9017:Lrp4	UTSW	2	91494052	missense	possibly damaging	0.51
R9062:Lrp4	UTSW	2	91473580	missense	possibly damaging	0.46
R9118:Lrp4	UTSW	2	91478582	missense	possibly damaging	0.91
R9640:Lrp4	UTSW	2	91485951	missense	probably benign	0.02
R9649:Lrp4	UTSW	2	91508569	missense	possibly damaging	0.46
R9708:Lrp4	UTSW	2	91511731	missense	probably benign	0.02
R9748:Lrp4	UTSW	2	91485771	missense	probably damaging	0.99
R9776:Lrp4	UTSW	2	91485834	missense	probably damaging	1.00
V7580:Lrp4	UTSW	2	91488518	missense	possibly damaging	0.96
V7581:Lrp4	UTSW	2	91488518	missense	possibly damaging	0.96
V7582:Lrp4	UTSW	2	91488518	missense	possibly damaging	0.96
V7583:Lrp4	UTSW	2	91488518	missense	possibly damaging	0.96
X0021:Lrp4	UTSW	2	91501062	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GCATCTATTGGACTGACTGGCAGAC -3'
(R):5'- GAAACGACGGAACCTGATCTCCATC -3'

Sequencing Primer
(F):5'- AAAGTGCTGACCGGCTGAC -3'
(R):5'- GGAACCTGATCTCCATCCTGTC -3'

Posted On

2013-05-09