Mutagenetix > Incidental Mutation

Incidental Mutation 'R7835:Lrp4'

605899

Institutional Source

Beutler Lab

Gene Symbol

Lrp4

Ensembl Gene

ENSMUSG00000027253

Gene Name

low density lipoprotein receptor-related protein 4

Synonyms

mdig, Megf7

MMRRC Submission

045889-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R7835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91457511-91513779 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91495042 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1404 (V1404A)

Ref Sequence

ENSEMBL: ENSMUSP00000028689 (fasta)

Gene Model

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

AlphaFold

Q8VI56

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028689
AA Change: V1404A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: V1404A

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: 99.7%
20x: 98.9%

Validation Efficiency

98% (48/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 79,099,875 (GRCm38)	S1465T	probably benign	Het
Accsl	T	A	2: 93,865,984 (GRCm38)	K90*	probably null	Het
Adamts3	A	T	5: 89,700,440 (GRCm38)	D674E	possibly damaging	Het
Adap2	T	A	11: 80,160,231 (GRCm38)	V129D	probably benign	Het
Ank3	A	G	10: 69,987,727 (GRCm38)	D742G		Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
C330021F23Rik	A	G	8: 3,580,452 (GRCm38)		probably benign	Het
Cachd1	G	T	4: 100,974,153 (GRCm38)		probably null	Het
Ccne1	G	T	7: 38,102,845 (GRCm38)	Q133K	probably benign	Het
Cers3	C	T	7: 66,773,639 (GRCm38)	H111Y	possibly damaging	Het
Chst5	A	T	8: 111,890,602 (GRCm38)	L129M	probably damaging	Het
Depdc7	A	G	2: 104,728,185 (GRCm38)	S164P	probably benign	Het
Dnah10	G	A	5: 124,777,234 (GRCm38)	A1966T	probably damaging	Het
Fam208a	G	T	14: 27,476,643 (GRCm38)	G1311C	probably damaging	Het
Fcgbp	T	G	7: 28,117,207 (GRCm38)	S2365A	possibly damaging	Het
Ihh	A	G	1: 74,946,366 (GRCm38)	V320A	probably damaging	Het
Kdm5d	T	C	Y: 900,558 (GRCm38)	V201A	possibly damaging	Het
Kif13b	T	A	14: 64,767,452 (GRCm38)	H1117Q	probably benign	Het
Lcn8	C	A	2: 25,655,296 (GRCm38)		probably null	Het
Lrrc61	A	T	6: 48,568,572 (GRCm38)	T110S	probably benign	Het
Mrpl19	G	A	6: 81,962,126 (GRCm38)	R232C	probably damaging	Het
Muc5ac	G	C	7: 141,809,303 (GRCm38)	G2117A	unknown	Het
Mzt1	T	C	14: 99,046,003 (GRCm38)	T21A	probably benign	Het
Naip6	G	T	13: 100,316,004 (GRCm38)	A183E	probably benign	Het
Neb	T	C	2: 52,150,577 (GRCm38)	D6624G	probably benign	Het
Nup85	A	G	11: 115,570,071 (GRCm38)	D183G	probably benign	Het
Olfm5	A	T	7: 104,154,445 (GRCm38)	Y195*	probably null	Het
Olfr828	T	A	9: 18,815,809 (GRCm38)	M162L	probably benign	Het
Piezo2	A	T	18: 63,082,945 (GRCm38)	F1216I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Polr1a	T	C	6: 71,915,142 (GRCm38)	V135A	probably benign	Het
Ppcdc	A	G	9: 57,420,276 (GRCm38)	S83P	probably benign	Het
Prss21	A	T	17: 23,869,451 (GRCm38)	Q130L	possibly damaging	Het
Rdx	T	A	9: 52,065,788 (GRCm38)	N112K	probably damaging	Het
Rgs22	A	G	15: 36,081,911 (GRCm38)		probably null	Het
Rps26	C	T	10: 128,626,126 (GRCm38)	V40I	probably benign	Het
Runx2	A	T	17: 44,608,236 (GRCm38)	M405K	probably damaging	Het
Serinc2	A	C	4: 130,275,487 (GRCm38)	C4G	unknown	Het
Sh3rf2	C	A	18: 42,111,170 (GRCm38)	R266S	probably benign	Het
Slc38a10	A	G	11: 120,116,996 (GRCm38)	I386T	possibly damaging	Het
Stab2	G	A	10: 86,872,619 (GRCm38)	P1694L	probably benign	Het
Taf4	G	A	2: 179,932,029 (GRCm38)	T682M	probably damaging	Het
Tmem102	A	G	11: 69,804,345 (GRCm38)	V267A	probably damaging	Het
Trim65	A	G	11: 116,130,929 (GRCm38)	L26P	probably damaging	Het
Vmn1r160	T	A	7: 22,871,954 (GRCm38)	M244K	possibly damaging	Het
Vmn1r57	A	T	7: 5,221,139 (GRCm38)	H221L	probably benign	Het
Wdr89	C	A	12: 75,632,899 (GRCm38)	V194F	probably damaging	Het
Wee1	C	A	7: 110,130,878 (GRCm38)	Y396*	probably null	Het
Zfp451	A	T	1: 33,772,979 (GRCm38)	V885D	probably damaging	Het
Zfp981	A	T	4: 146,537,876 (GRCm38)	Q419H	probably benign	Het
Znfx1	A	G	2: 167,039,827 (GRCm38)	Y1081H	probably damaging	Het

Other mutations in Lrp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Lrp4	APN	2	91,495,026 (GRCm38)	missense	probably benign
IGL00509:Lrp4	APN	2	91,486,174 (GRCm38)	splice site	probably benign
IGL01145:Lrp4	APN	2	91,487,051 (GRCm38)	missense	probably damaging	1.00
IGL01287:Lrp4	APN	2	91,473,948 (GRCm38)	missense	probably damaging	1.00
IGL01531:Lrp4	APN	2	91,511,553 (GRCm38)	missense	probably damaging	1.00
IGL01534:Lrp4	APN	2	91,473,641 (GRCm38)	missense	probably damaging	1.00
IGL01544:Lrp4	APN	2	91,477,551 (GRCm38)	missense	probably damaging	1.00
IGL01761:Lrp4	APN	2	91,481,981 (GRCm38)	critical splice donor site	probably null
IGL01885:Lrp4	APN	2	91,501,107 (GRCm38)	missense	probably benign	0.05
IGL01909:Lrp4	APN	2	91,494,184 (GRCm38)	missense	possibly damaging	0.50
IGL02111:Lrp4	APN	2	91,506,059 (GRCm38)	missense	probably damaging	1.00
IGL02385:Lrp4	APN	2	91,474,720 (GRCm38)	missense	possibly damaging	0.89
IGL02403:Lrp4	APN	2	91,508,582 (GRCm38)	missense	probably benign	0.05
IGL02431:Lrp4	APN	2	91,476,637 (GRCm38)	missense	possibly damaging	0.95
IGL02452:Lrp4	APN	2	91,474,002 (GRCm38)	missense	probably damaging	1.00
IGL02798:Lrp4	APN	2	91,476,710 (GRCm38)	missense	probably benign	0.02
IGL02828:Lrp4	APN	2	91,475,294 (GRCm38)	missense	probably benign
IGL02832:Lrp4	APN	2	91,511,580 (GRCm38)	missense	probably damaging	1.00
IGL02893:Lrp4	APN	2	91,474,816 (GRCm38)	missense	possibly damaging	0.76
artiodactyl	UTSW	2	91,494,994 (GRCm38)	missense	probably damaging	0.99
bubalus	UTSW	2	91,494,955 (GRCm38)	missense	possibly damaging	0.71
riverhorse	UTSW	2	91,480,321 (GRCm38)	missense	probably damaging	1.00
wallow	UTSW	2	91,477,698 (GRCm38)	missense	probably benign	0.09
F5770:Lrp4	UTSW	2	91,488,518 (GRCm38)	missense	possibly damaging	0.96
R0037:Lrp4	UTSW	2	91,471,203 (GRCm38)	missense	probably benign	0.22
R0037:Lrp4	UTSW	2	91,471,203 (GRCm38)	missense	probably benign	0.22
R0137:Lrp4	UTSW	2	91,494,982 (GRCm38)	missense	probably damaging	1.00
R0265:Lrp4	UTSW	2	91,490,670 (GRCm38)	missense	probably damaging	1.00
R0368:Lrp4	UTSW	2	91,477,734 (GRCm38)	missense	probably damaging	0.99
R0531:Lrp4	UTSW	2	91,475,178 (GRCm38)	splice site	probably benign
R0827:Lrp4	UTSW	2	91,495,041 (GRCm38)	missense	probably damaging	1.00
R1029:Lrp4	UTSW	2	91,487,027 (GRCm38)	splice site	probably benign
R1183:Lrp4	UTSW	2	91,477,519 (GRCm38)	critical splice acceptor site	probably null
R1587:Lrp4	UTSW	2	91,476,305 (GRCm38)	missense	probably benign	0.26
R1693:Lrp4	UTSW	2	91,492,353 (GRCm38)	missense	probably damaging	1.00
R1747:Lrp4	UTSW	2	91,492,621 (GRCm38)	missense	probably damaging	0.98
R1863:Lrp4	UTSW	2	91,498,363 (GRCm38)	missense	probably benign	0.15
R1908:Lrp4	UTSW	2	91,498,408 (GRCm38)	missense	possibly damaging	0.93
R1909:Lrp4	UTSW	2	91,498,408 (GRCm38)	missense	possibly damaging	0.93
R1932:Lrp4	UTSW	2	91,497,355 (GRCm38)	nonsense	probably null
R1934:Lrp4	UTSW	2	91,480,432 (GRCm38)	missense	probably damaging	1.00
R2358:Lrp4	UTSW	2	91,501,954 (GRCm38)	missense	probably benign	0.01
R2433:Lrp4	UTSW	2	91,506,015 (GRCm38)	missense	probably benign	0.00
R2698:Lrp4	UTSW	2	91,475,212 (GRCm38)	missense	probably damaging	0.99
R2919:Lrp4	UTSW	2	91,490,730 (GRCm38)	missense	probably benign	0.01
R3105:Lrp4	UTSW	2	91,501,049 (GRCm38)	missense	probably benign
R3709:Lrp4	UTSW	2	91,490,466 (GRCm38)	missense	possibly damaging	0.60
R3711:Lrp4	UTSW	2	91,501,954 (GRCm38)	missense	probably benign	0.01
R3735:Lrp4	UTSW	2	91,498,371 (GRCm38)	missense	probably damaging	1.00
R3808:Lrp4	UTSW	2	91,476,702 (GRCm38)	missense	probably damaging	0.99
R3894:Lrp4	UTSW	2	91,473,949 (GRCm38)	missense	probably damaging	1.00
R3895:Lrp4	UTSW	2	91,473,949 (GRCm38)	missense	probably damaging	1.00
R4397:Lrp4	UTSW	2	91,511,670 (GRCm38)	missense	probably benign	0.20
R4741:Lrp4	UTSW	2	91,511,567 (GRCm38)	missense	probably damaging	1.00
R4948:Lrp4	UTSW	2	91,485,886 (GRCm38)	missense	probably benign
R5050:Lrp4	UTSW	2	91,492,422 (GRCm38)	missense	probably benign	0.22
R5096:Lrp4	UTSW	2	91,485,792 (GRCm38)	missense	possibly damaging	0.65
R5110:Lrp4	UTSW	2	91,497,072 (GRCm38)	missense	possibly damaging	0.48
R5141:Lrp4	UTSW	2	91,478,678 (GRCm38)	splice site	probably benign
R5439:Lrp4	UTSW	2	91,497,073 (GRCm38)	missense	probably benign	0.14
R5725:Lrp4	UTSW	2	91,494,895 (GRCm38)	missense	probably damaging	1.00
R5795:Lrp4	UTSW	2	91,474,471 (GRCm38)	missense	probably benign	0.01
R5820:Lrp4	UTSW	2	91,492,615 (GRCm38)	missense	probably damaging	0.99
R5883:Lrp4	UTSW	2	91,488,433 (GRCm38)	missense	probably benign	0.01
R5919:Lrp4	UTSW	2	91,473,207 (GRCm38)	missense	probably damaging	1.00
R5925:Lrp4	UTSW	2	91,511,684 (GRCm38)	missense	probably benign	0.01
R6080:Lrp4	UTSW	2	91,502,000 (GRCm38)	missense	probably benign
R6189:Lrp4	UTSW	2	91,475,234 (GRCm38)	missense	possibly damaging	0.63
R6192:Lrp4	UTSW	2	91,508,488 (GRCm38)	missense	probably benign	0.00
R6319:Lrp4	UTSW	2	91,480,321 (GRCm38)	missense	probably damaging	1.00
R6378:Lrp4	UTSW	2	91,493,829 (GRCm38)	missense	probably benign	0.18
R6479:Lrp4	UTSW	2	91,487,084 (GRCm38)	missense	probably damaging	0.96
R6500:Lrp4	UTSW	2	91,492,420 (GRCm38)	missense	possibly damaging	0.90
R6643:Lrp4	UTSW	2	91,501,995 (GRCm38)	missense	probably benign
R6657:Lrp4	UTSW	2	91,492,053 (GRCm38)	missense	probably benign	0.00
R6696:Lrp4	UTSW	2	91,497,345 (GRCm38)	missense	probably benign	0.03
R6714:Lrp4	UTSW	2	91,476,365 (GRCm38)	missense	possibly damaging	0.90
R6734:Lrp4	UTSW	2	91,485,897 (GRCm38)	missense	possibly damaging	0.79
R6770:Lrp4	UTSW	2	91,497,303 (GRCm38)	missense	probably benign	0.33
R6774:Lrp4	UTSW	2	91,511,504 (GRCm38)	missense	probably benign	0.01
R6957:Lrp4	UTSW	2	91,487,042 (GRCm38)	missense	probably damaging	0.99
R6978:Lrp4	UTSW	2	91,491,998 (GRCm38)	missense	probably damaging	1.00
R7065:Lrp4	UTSW	2	91,511,580 (GRCm38)	missense	probably damaging	1.00
R7142:Lrp4	UTSW	2	91,494,994 (GRCm38)	missense	probably damaging	0.99
R7219:Lrp4	UTSW	2	91,492,023 (GRCm38)	missense	probably damaging	1.00
R7237:Lrp4	UTSW	2	91,473,183 (GRCm38)	missense	probably benign	0.04
R7387:Lrp4	UTSW	2	91,476,614 (GRCm38)	missense	probably benign
R7585:Lrp4	UTSW	2	91,492,588 (GRCm38)	missense	probably damaging	1.00
R7872:Lrp4	UTSW	2	91,490,716 (GRCm38)	missense	possibly damaging	0.54
R7968:Lrp4	UTSW	2	91,494,079 (GRCm38)	missense	possibly damaging	0.74
R8222:Lrp4	UTSW	2	91,474,741 (GRCm38)	missense	probably damaging	1.00
R8338:Lrp4	UTSW	2	91,492,368 (GRCm38)	missense	probably benign	0.15
R8342:Lrp4	UTSW	2	91,488,445 (GRCm38)	missense	probably damaging	1.00
R8435:Lrp4	UTSW	2	91,477,653 (GRCm38)	missense	probably damaging	1.00
R8720:Lrp4	UTSW	2	91,494,114 (GRCm38)	missense	probably damaging	1.00
R8774:Lrp4	UTSW	2	91,477,698 (GRCm38)	missense	probably benign	0.09
R8774-TAIL:Lrp4	UTSW	2	91,477,698 (GRCm38)	missense	probably benign	0.09
R8792:Lrp4	UTSW	2	91,494,955 (GRCm38)	missense	possibly damaging	0.71
R8913:Lrp4	UTSW	2	91,501,440 (GRCm38)	missense	probably benign	0.11
R9017:Lrp4	UTSW	2	91,494,052 (GRCm38)	missense	possibly damaging	0.51
R9062:Lrp4	UTSW	2	91,473,580 (GRCm38)	missense	possibly damaging	0.46
R9118:Lrp4	UTSW	2	91,478,582 (GRCm38)	missense	possibly damaging	0.91
R9640:Lrp4	UTSW	2	91,485,951 (GRCm38)	missense	probably benign	0.02
R9649:Lrp4	UTSW	2	91,508,569 (GRCm38)	missense	possibly damaging	0.46
R9708:Lrp4	UTSW	2	91,511,731 (GRCm38)	missense	probably benign	0.02
R9748:Lrp4	UTSW	2	91,485,771 (GRCm38)	missense	probably damaging	0.99
R9776:Lrp4	UTSW	2	91,485,834 (GRCm38)	missense	probably damaging	1.00
V7580:Lrp4	UTSW	2	91,488,518 (GRCm38)	missense	possibly damaging	0.96
V7581:Lrp4	UTSW	2	91,488,518 (GRCm38)	missense	possibly damaging	0.96
V7582:Lrp4	UTSW	2	91,488,518 (GRCm38)	missense	possibly damaging	0.96
V7583:Lrp4	UTSW	2	91,488,518 (GRCm38)	missense	possibly damaging	0.96
X0021:Lrp4	UTSW	2	91,501,062 (GRCm38)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AAGAAATGGCGGCTGTTCCC -3'
(R):5'- TGTGGACCACTGTGAAGTG -3'

Sequencing Primer
(F):5'- CTGGCATTCAGCTGAAGGG -3'
(R):5'- GTGGTCAGAAATCTAACTCCATGTC -3'

Posted On

2019-12-20