Mutagenetix > Incidental Mutation

Incidental Mutation 'R3105:Lrp4'

262995

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

040579-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.781) question?

Stock #

R3105 (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 91331394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1585 (Y1585H)

Ref Sequence

ENSEMBL: ENSMUSP00000028689 (fasta)

Gene Model

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

AlphaFold

Q8VI56

Predicted Effect

probably benign
Transcript: ENSMUST00000028689
AA Change: Y1585H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: Y1585H

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

0.0696

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (44/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	T	C	1: 75,151,687 (GRCm39)		probably benign	Het
Abhd13	T	C	8: 10,037,931 (GRCm39)	V176A	probably benign	Het
Alpk2	A	T	18: 65,483,281 (GRCm39)	S242R	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Ccdc163	C	A	4: 116,566,697 (GRCm39)	Q58K	probably benign	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Clca4b	A	T	3: 144,622,432 (GRCm39)	N544K	probably benign	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dip2b	C	A	15: 100,040,018 (GRCm39)	C138*	probably null	Het
Dnaja2	G	A	8: 86,281,857 (GRCm39)	T7M	probably damaging	Het
Ezh1	A	C	11: 101,086,468 (GRCm39)	C575W	probably damaging	Het
F11	T	A	8: 45,698,754 (GRCm39)	Q463H	probably damaging	Het
Gfpt1	A	G	6: 87,034,628 (GRCm39)	D142G	probably benign	Het
Gm8730	T	C	8: 103,591,895 (GRCm39)		noncoding transcript	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Magi3	A	G	3: 103,958,636 (GRCm39)	V483A	probably damaging	Het
Map2	T	C	1: 66,472,756 (GRCm39)		probably null	Het
Or4a78	T	C	2: 89,497,302 (GRCm39)	I309M	probably benign	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Otof	A	G	5: 30,539,145 (GRCm39)	Y1090H	probably benign	Het
Pgr	T	A	9: 8,958,397 (GRCm39)	F801L	probably benign	Het
Pomk	A	C	8: 26,472,942 (GRCm39)	L337R	probably damaging	Het
Prune2	T	A	19: 17,096,520 (GRCm39)	S675T	probably damaging	Het
Rnpepl1	C	T	1: 92,844,102 (GRCm39)	L278F	probably damaging	Het
Sars1	C	T	3: 108,336,621 (GRCm39)	R302H	probably damaging	Het
Sbspon	T	C	1: 15,962,806 (GRCm39)	E24G	probably benign	Het
Sec16a	G	A	2: 26,328,433 (GRCm39)	P1194L	probably benign	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Slc22a29	T	C	19: 8,147,337 (GRCm39)	T342A	probably benign	Het
Spaca1	G	A	4: 34,028,468 (GRCm39)	T283M	probably damaging	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Taf6l	C	T	19: 8,756,219 (GRCm39)	S208N	probably damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tmigd1	A	G	11: 76,801,124 (GRCm39)	T204A	possibly damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Vmn1r205	T	C	13: 22,777,109 (GRCm39)		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
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'- GTGCACAGCATTCATTCAGG -3'
(R):5'- ATCACAAAGGATGCACAGGTC -3'

Sequencing Primer
(F):5'- GCATTCATTCAGGAAATCAGTCGC -3'
(R):5'- ATGAAACACAAGCCCTGTTGG -3'

Posted On

2015-02-05