Mutagenetix > Incidental Mutation

Incidental Mutation 'R8913:Lrp4'

678742

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

068702-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R8913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91287856-91344124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91331785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1633 (S1633P)

Ref Sequence

ENSEMBL: ENSMUSP00000028689 (fasta)

Gene Model

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

AlphaFold

Q8VI56

Predicted Effect

probably benign
Transcript: ENSMUST00000028689
AA Change: S1633P

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: S1633P

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: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

96% (65/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,972 (GRCm39)	Y2102H	probably damaging	Het
Adam30	A	T	3: 98,068,580 (GRCm39)	I10F	possibly damaging	Het
Afap1l1	C	T	18: 61,889,910 (GRCm39)		probably null	Het
Asz1	T	C	6: 18,054,570 (GRCm39)	D411G	probably benign	Het
Atp8b2	A	G	3: 89,852,830 (GRCm39)	L144P		Het
Atxn7l3	G	T	11: 102,185,787 (GRCm39)	N13K	probably damaging	Het
Cap1	C	A	4: 122,761,445 (GRCm39)		probably null	Het
Cd244a	T	A	1: 171,401,774 (GRCm39)	Y167N	probably damaging	Het
Cd244a	A	T	1: 171,401,775 (GRCm39)	Y167F	probably damaging	Het
Cd302	A	G	2: 60,088,241 (GRCm39)	F92S	probably damaging	Het
Cep128	C	T	12: 91,331,221 (GRCm39)		probably null	Het
Csmd2	C	A	4: 128,417,351 (GRCm39)	P2770T		Het
Cyp4f40	G	T	17: 32,886,810 (GRCm39)	D122Y	probably benign	Het
Dnah14	A	G	1: 181,553,063 (GRCm39)	E2583G	probably benign	Het
Dync1h1	T	C	12: 110,624,602 (GRCm39)	V3714A	probably benign	Het
Fam114a1	G	T	5: 65,185,821 (GRCm39)	A381S	possibly damaging	Het
Fzd8	A	G	18: 9,213,869 (GRCm39)	Y317C	probably damaging	Het
Igfn1	T	C	1: 135,891,579 (GRCm39)	K2312R	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klhl23	G	A	2: 69,664,234 (GRCm39)	E528K	probably damaging	Het
Lama4	T	C	10: 38,982,039 (GRCm39)	V1756A	probably benign	Het
Lcn2	C	A	2: 32,277,158 (GRCm39)	V53F	possibly damaging	Het
Map3k19	A	G	1: 127,750,363 (GRCm39)	V996A	probably benign	Het
Mettl9	T	G	7: 120,675,539 (GRCm39)	F313C	probably damaging	Het
Mios	T	A	6: 8,215,924 (GRCm39)	H373Q	probably benign	Het
Mroh2b	A	G	15: 4,947,010 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,541,710 (GRCm39)	V83A	probably benign	Het
Naxe	T	C	3: 87,965,665 (GRCm39)	T45A	probably benign	Het
Nckap1	A	G	2: 80,401,564 (GRCm39)	V40A	possibly damaging	Het
Nherf2	G	A	17: 24,863,839 (GRCm39)	S12L	probably benign	Het
Nmt1	G	T	11: 102,948,271 (GRCm39)	R265L	probably damaging	Het
Nwd2	C	A	5: 63,963,440 (GRCm39)	A1008D	possibly damaging	Het
Obsl1	C	T	1: 75,467,892 (GRCm39)	A1334T	probably benign	Het
Oplah	T	C	15: 76,181,680 (GRCm39)	M1114V		Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or10a49	A	T	7: 108,467,809 (GRCm39)	V184E	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2w6	A	G	13: 21,843,274 (GRCm39)	F73S	probably damaging	Het
Or4c29	A	G	2: 88,739,991 (GRCm39)	F249L	probably benign	Het
Pdlim5	A	T	3: 141,950,666 (GRCm39)	F582L	probably damaging	Het
Plcb2	A	G	2: 118,544,365 (GRCm39)	F671L	probably damaging	Het
Ppfibp1	T	A	6: 146,923,947 (GRCm39)	V725E	probably damaging	Het
Psmd11	C	T	11: 80,362,338 (GRCm39)	T396I	probably damaging	Het
Ptn	C	T	6: 36,718,276 (GRCm39)	D130N	probably benign	Het
Rasgrf2	T	C	13: 92,159,034 (GRCm39)	D473G	probably benign	Het
Robo1	A	C	16: 72,701,622 (GRCm39)	I163L	probably damaging	Het
Ror1	A	C	4: 100,265,027 (GRCm39)	D167A	possibly damaging	Het
Rps6ka5	T	C	12: 100,520,595 (GRCm39)	D709G		Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Runx2	T	C	17: 44,919,169 (GRCm39)	T472A	probably benign	Het
Scn11a	T	C	9: 119,623,094 (GRCm39)	T582A	probably damaging	Het
Serpina3m	C	T	12: 104,355,477 (GRCm39)	A48V	probably benign	Het
Smim8	T	A	4: 34,769,056 (GRCm39)	D76V	possibly damaging	Het
Sqor	A	G	2: 122,641,806 (GRCm39)	K260R	probably benign	Het
Syde2	A	T	3: 145,708,148 (GRCm39)	I963F	probably damaging	Het
Tasor	A	T	14: 27,188,145 (GRCm39)	N864Y	probably damaging	Het
Tenm4	G	A	7: 96,351,952 (GRCm39)		probably benign	Het
Tm7sf3	A	T	6: 146,527,621 (GRCm39)	Y68*	probably null	Het
Tmtc2	T	A	10: 105,158,887 (GRCm39)	I569F	probably damaging	Het
Upf3a	G	A	8: 13,845,728 (GRCm39)	V276M	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,375 (GRCm39)	V14M	possibly damaging	Het
Vmn2r104	A	G	17: 20,249,968 (GRCm39)	S768P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,778 (GRCm39)	T194S	probably benign	Het
Zfhx2	A	G	14: 55,309,543 (GRCm39)	M852T	probably benign	Het
Zfp207	T	A	11: 80,276,744 (GRCm39)	D19E	probably damaging	Het
Zfp318	G	A	17: 46,722,699 (GRCm39)	M1567I	probably benign	Het
Zfp407	T	A	18: 84,578,653 (GRCm39)	E820V	probably damaging	Het
Zfp512b	A	T	2: 181,227,282 (GRCm39)	C46S		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
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
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'- AGACCTGTGCATCCTTTGTG -3'
(R):5'- CAGGCTTGAGCATCATCACAAAG -3'

Sequencing Primer
(F):5'- AGACCTGTGCATCCTTTGTGATTATC -3'
(R):5'- GCCCAAGAATACTGCTCATTTAC -3'

Posted On

2021-08-02