Mutagenetix > Incidental Mutation

Incidental Mutation 'R8342:Lrp4'

644932

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

067731-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

R8342 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91287856-91344124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91318790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 876 (T876A)

Ref Sequence

ENSEMBL: ENSMUSP00000028689 (fasta)

Gene Model

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

AlphaFold

Q8VI56

Predicted Effect

probably damaging
Transcript: ENSMUST00000028689
AA Change: T876A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: T876A

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: 98.6%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	G	6: 86,963,321 (GRCm39)	D917G	unknown	Het
Adad1	T	C	3: 37,134,050 (GRCm39)	S322P	probably damaging	Het
Agbl4	C	T	4: 110,976,224 (GRCm39)	L194F	probably damaging	Het
Ahr	C	T	12: 35,558,271 (GRCm39)	G250R	probably damaging	Het
AI987944	A	T	7: 41,024,310 (GRCm39)	I226N	probably benign	Het
Ankar	A	G	1: 72,691,619 (GRCm39)	V1114A	probably damaging	Het
Ankrd49	C	A	9: 14,692,823 (GRCm39)	A114S	probably damaging	Het
Arl6	C	T	16: 59,442,802 (GRCm39)	G140D	unknown	Het
Arrdc3	A	G	13: 81,031,790 (GRCm39)	S8G	probably benign	Het
Ate1	A	T	7: 130,105,495 (GRCm39)	V298E	probably benign	Het
Atp6v1b2	A	G	8: 69,554,035 (GRCm39)	I71V	probably benign	Het
Bin1	A	G	18: 32,546,166 (GRCm39)	M112V	probably benign	Het
Camk2b	C	T	11: 5,940,383 (GRCm39)	A152T	probably benign	Het
Cars2	A	C	8: 11,579,706 (GRCm39)	F251V	probably damaging	Het
Cdkl1	A	T	12: 69,800,952 (GRCm39)	F229I	probably damaging	Het
Ceacam5	A	T	7: 17,486,171 (GRCm39)	Y556F	possibly damaging	Het
Chst15	T	C	7: 131,849,615 (GRCm39)	N442S	probably benign	Het
Ckap5	T	A	2: 91,436,707 (GRCm39)	D1602E	possibly damaging	Het
Col9a3	A	T	2: 180,245,183 (GRCm39)	I131F	unknown	Het
Cyp4f15	A	T	17: 32,909,733 (GRCm39)	D110V	possibly damaging	Het
Dlec1	A	G	9: 118,968,457 (GRCm39)	I1258V	probably benign	Het
Dpyd	A	G	3: 119,108,452 (GRCm39)	T832A	possibly damaging	Het
Eno1	A	G	4: 150,329,693 (GRCm39)	Y189C	probably damaging	Het
Gnat3	A	G	5: 18,208,838 (GRCm39)	T181A		Het
Kif1b	T	C	4: 149,306,805 (GRCm39)	M852V	probably damaging	Het
Klk1b26	A	T	7: 43,665,508 (GRCm39)	I139F	probably damaging	Het
Loxhd1	G	A	18: 77,493,681 (GRCm39)	V1547M	possibly damaging	Het
Malrd1	G	T	2: 15,638,035 (GRCm39)	W451L	unknown	Het
Marchf6	A	T	15: 31,494,262 (GRCm39)	N261K	possibly damaging	Het
Mcpt2	T	C	14: 56,280,250 (GRCm39)	C50R	probably damaging	Het
Muc16	A	G	9: 18,569,981 (GRCm39)	V846A	unknown	Het
Muc5b	A	T	7: 141,414,602 (GRCm39)	D2516V	unknown	Het
Myh15	T	C	16: 48,913,120 (GRCm39)	L359P	probably benign	Het
Nemp1	G	A	10: 127,528,898 (GRCm39)	V201I	probably benign	Het
Nr2e1	A	T	10: 42,444,425 (GRCm39)	L228Q	probably damaging	Het
Nrg1	C	A	8: 32,312,334 (GRCm39)	V388L	probably benign	Het
Nrg3	T	A	14: 38,734,053 (GRCm39)	T278S	probably damaging	Het
Numb	T	C	12: 83,854,990 (GRCm39)	E112G	probably benign	Het
Or1l4b	T	C	2: 37,036,778 (GRCm39)	S185P	probably damaging	Het
Or8g2b	A	C	9: 39,751,612 (GRCm39)	N294T	probably damaging	Het
Pdlim2	C	A	14: 70,403,563 (GRCm39)	C283F	probably damaging	Het
Potegl	T	A	2: 23,147,017 (GRCm39)		probably null	Het
Ppm1a	G	A	12: 72,830,909 (GRCm39)	G145R	probably damaging	Het
Pramel14	T	A	4: 143,720,809 (GRCm39)	D44V	probably benign	Het
Pramel18	A	T	4: 101,767,581 (GRCm39)	M277L	probably benign	Het
Prune2	C	A	19: 17,103,027 (GRCm39)	Q2729K	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scn9a	G	T	2: 66,366,626 (GRCm39)	T719K	probably benign	Het
Slc12a7	T	C	13: 73,933,281 (GRCm39)	V113A	probably benign	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc37a2	A	T	9: 37,149,510 (GRCm39)		probably null	Het
Steap1	G	A	5: 5,790,816 (GRCm39)	S44L	probably benign	Het
Sucnr1	C	T	3: 59,994,155 (GRCm39)	R228C	probably damaging	Het
Sult3a1	G	A	10: 33,742,517 (GRCm39)	G48D	probably damaging	Het
Syn3	A	T	10: 86,302,891 (GRCm39)	V88D	probably damaging	Het
Syne1	T	C	10: 5,058,622 (GRCm39)	D7297G	probably benign	Het
Tmco5	T	C	2: 116,710,734 (GRCm39)	I18T	probably damaging	Het
Trpc1	A	G	9: 95,608,601 (GRCm39)	L230P	probably damaging	Het
Ttn	T	C	2: 76,719,785 (GRCm39)	N7108S	unknown	Het
Ubr5	A	G	15: 38,025,081 (GRCm39)	V559A		Het
Ugt1a7c	T	C	1: 88,022,973 (GRCm39)	V44A	possibly damaging	Het
Vmn2r60	A	T	7: 41,790,494 (GRCm39)	S494C	possibly 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
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
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'- ATATAAGCCTTCAGGGACACGG -3'
(R):5'- ATGTTCTAGTGGCACCTTTACC -3'

Sequencing Primer
(F):5'- GCTCTGAGTCCAGGCTTAGG -3'
(R):5'- AGTGGCACCTTTACCTTCCTCTTG -3'

Posted On

2020-09-02