Mutagenetix > Incidental Mutation

Incidental Mutation 'R2698:Lrp4'

251272

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

040436-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R2698 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91287856-91344124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91305557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 276 (R276C)

Ref Sequence

ENSEMBL: ENSMUSP00000028689 (fasta)

Gene Model

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

AlphaFold

Q8VI56

Predicted Effect

probably damaging
Transcript: ENSMUST00000028689
AA Change: R276C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: R276C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151907

Meta Mutation Damage Score

0.5493

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,578,862 (GRCm39)	R901G	possibly damaging	Het
Abhd18	T	A	3: 40,885,401 (GRCm39)	M262K	probably benign	Het
Ano2	C	A	6: 125,689,309 (GRCm39)	L145I	probably benign	Het
Ckap5	T	C	2: 91,408,426 (GRCm39)	W874R	probably damaging	Het
Cox4i1	G	T	8: 121,396,102 (GRCm39)		probably benign	Het
Cwc27	A	T	13: 104,943,259 (GRCm39)	N94K	probably damaging	Het
Dcaf11	T	C	14: 55,804,342 (GRCm39)	S372P	probably damaging	Het
Dpysl4	A	G	7: 138,676,681 (GRCm39)	N356S	probably damaging	Het
Dusp8	A	G	7: 141,635,701 (GRCm39)		probably benign	Het
Erc2	G	A	14: 27,993,662 (GRCm39)	V894M	probably benign	Het
Fbxo28	T	A	1: 182,144,719 (GRCm39)	I282F	probably benign	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gabra4	T	C	5: 71,729,421 (GRCm39)	H453R	probably benign	Het
Glrx	T	A	13: 75,988,065 (GRCm39)		probably null	Het
Gm11541	A	T	11: 94,586,441 (GRCm39)	L102*	probably null	Het
Gm5113	T	A	7: 29,878,150 (GRCm39)	Y79*	probably null	Het
Gpr87	T	A	3: 59,086,587 (GRCm39)	N306I	probably damaging	Het
Hydin	T	A	8: 111,336,561 (GRCm39)	Y5113N	possibly damaging	Het
Iqsec3	C	T	6: 121,390,430 (GRCm39)		probably benign	Het
Kbtbd8	C	A	6: 95,103,570 (GRCm39)	Y406*	probably null	Het
Lamb1	G	T	12: 31,348,882 (GRCm39)	R590L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lnpk	T	C	2: 74,367,845 (GRCm39)	E165G	probably damaging	Het
Lrrc7	T	A	3: 157,841,028 (GRCm39)	T1384S	probably benign	Het
Mia2	T	C	12: 59,217,780 (GRCm39)		probably null	Het
Morc2a	T	C	11: 3,635,400 (GRCm39)	V797A	probably damaging	Het
Mrps23	T	C	11: 88,096,193 (GRCm39)		probably benign	Het
Muc17	A	T	5: 137,175,484 (GRCm39)	I62K	probably damaging	Het
Nlrp4g	T	A	9: 124,349,630 (GRCm38)		noncoding transcript	Het
Nptx1	A	T	11: 119,435,669 (GRCm39)		probably benign	Het
Or1j20	T	A	2: 36,760,208 (GRCm39)	I210K	possibly damaging	Het
Pabpc1l	T	G	2: 163,886,302 (GRCm39)		probably null	Het
Pdcd6ip	A	T	9: 113,503,575 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plcxd1	A	G	5: 110,250,349 (GRCm39)	Q230R	probably benign	Het
Psme4	T	A	11: 30,824,282 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptch1	T	A	13: 63,690,038 (GRCm39)	N320Y	probably damaging	Het
Qars1	G	A	9: 108,385,642 (GRCm39)	V60I	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhag	T	C	17: 41,147,367 (GRCm39)	S410P	probably damaging	Het
Rnf213	A	G	11: 119,300,970 (GRCm39)	K297E	probably benign	Het
Rps6ka4	T	C	19: 6,814,720 (GRCm39)	E294G	probably benign	Het
Scaf4	T	A	16: 90,041,244 (GRCm39)	I695F	unknown	Het
Scrn2	T	C	11: 96,923,122 (GRCm39)		probably benign	Het
Scx	T	A	15: 76,342,363 (GRCm39)	C188S	probably damaging	Het
Sdk1	G	T	5: 142,197,805 (GRCm39)	V1893L	possibly damaging	Het
Sema5a	C	A	15: 32,673,546 (GRCm39)	Q795K	probably damaging	Het
Slc24a3	A	G	2: 145,455,487 (GRCm39)	S459G	probably benign	Het
Smurf1	A	G	5: 144,820,372 (GRCm39)		probably benign	Het
Taar4	T	C	10: 23,837,328 (GRCm39)	Y313H	probably damaging	Het
Tmprss11c	A	G	5: 86,419,322 (GRCm39)	F79S	probably damaging	Het
Tnfaip8l2	T	A	3: 95,047,672 (GRCm39)	I64F	possibly damaging	Het
Trbv13-1	A	G	6: 41,093,372 (GRCm39)	T102A	probably damaging	Het
Trpa1	A	T	1: 14,976,222 (GRCm39)	N160K	probably damaging	Het
Ttc22	A	G	4: 106,496,435 (GRCm39)	Y495C	probably benign	Het
Usp50	A	G	2: 126,619,949 (GRCm39)	I121T	probably damaging	Het
Vmn2r117	A	G	17: 23,678,885 (GRCm39)	S780P	probably damaging	Het
Vmn2r66	A	T	7: 84,644,607 (GRCm39)	V601D	probably damaging	Het
Wapl	G	A	14: 34,413,734 (GRCm39)	A199T	probably benign	Het
Zfp658	A	G	7: 43,222,969 (GRCm39)	T415A	possibly damaging	Het
Zfp760	C	T	17: 21,939,935 (GRCm39)	T9I	probably damaging	Het
Zfp998	A	G	13: 66,581,495 (GRCm39)	S59P	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
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
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'- GGTAGCATCAAAGGCTTGGG -3'
(R):5'- AATGGCAATGTTCCCTTTGC -3'

Sequencing Primer
(F):5'- AAGGATACCTGTCGCCTAGTAGTC -3'
(R):5'- AATGGCAATGTTCCCTTTGCTTCTC -3'

Posted On

2014-12-04