Incidental Mutation 'R7585:Lrp4'
ID 587020
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 045635-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R7585 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91287856-91344124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91322933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 1139 (Y1139C)
Ref Sequence ENSEMBL: ENSMUSP00000028689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028689]
AlphaFold Q8VI56
Predicted Effect probably damaging
Transcript: ENSMUST00000028689
AA Change: Y1139C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: Y1139C

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,854,851 (GRCm39) T64A probably benign Het
A930009A15Rik T A 10: 115,414,230 (GRCm39) V52D unknown Het
Aadacl2fm2 C A 3: 59,651,143 (GRCm39) D88E possibly damaging Het
Acacb A G 5: 114,384,073 (GRCm39) I2201V probably damaging Het
Aco2 A C 15: 81,756,685 (GRCm39) probably benign Het
Acod1 C T 14: 103,292,177 (GRCm39) Q234* probably null Het
Actr6 T C 10: 89,561,658 (GRCm39) S163G probably benign Het
Agmat T C 4: 141,477,056 (GRCm39) V154A probably benign Het
Agrn T C 4: 156,255,131 (GRCm39) N1584S probably benign Het
Alg6 A T 4: 99,626,371 (GRCm39) S60C probably damaging Het
Ap5s1 T C 2: 131,054,482 (GRCm39) F98L probably damaging Het
Atp6v1f G A 6: 29,467,927 (GRCm39) V38I possibly damaging Het
B3gnt3 T C 8: 72,145,972 (GRCm39) T186A probably damaging Het
Brpf1 T C 6: 113,292,007 (GRCm39) V351A possibly damaging Het
Cacna1g A G 11: 94,364,368 (GRCm39) S26P probably benign Het
Camta1 G A 4: 151,229,287 (GRCm39) S515L probably damaging Het
Ccdc122 C A 14: 77,329,139 (GRCm39) A64E probably damaging Het
Ccdc89 C A 7: 90,076,510 (GRCm39) T240K possibly damaging Het
Cercam T C 2: 29,771,743 (GRCm39) L521P probably damaging Het
Cfb T C 17: 35,076,737 (GRCm39) N561S probably benign Het
Clk3 T C 9: 57,669,119 (GRCm39) E159G probably damaging Het
Cntf A T 19: 12,741,587 (GRCm39) L91* probably null Het
Cntn4 T A 6: 106,466,572 (GRCm39) I158N probably damaging Het
Cog5 T A 12: 31,810,888 (GRCm39) I194K probably damaging Het
Col22a1 T A 15: 71,764,054 (GRCm39) D66V probably damaging Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Csmd3 T C 15: 48,485,471 (GRCm39) T145A possibly damaging Het
D130043K22Rik A G 13: 25,069,568 (GRCm39) I876V probably benign Het
Dlec1 T C 9: 118,971,819 (GRCm39) S1335P probably benign Het
Dnah5 A T 15: 28,402,014 (GRCm39) T3392S probably benign Het
Dnal1 A G 12: 84,171,267 (GRCm39) K21E probably benign Het
Dspp T C 5: 104,323,391 (GRCm39) V178A possibly damaging Het
Dst A G 1: 34,153,096 (GRCm39) D119G possibly damaging Het
Dyrk4 T A 6: 126,867,007 (GRCm39) I342F probably damaging Het
Eif3b A G 5: 140,425,757 (GRCm39) D649G probably damaging Het
Exoc7 T C 11: 116,191,124 (GRCm39) D259G probably benign Het
Fancm T C 12: 65,153,021 (GRCm39) V1159A possibly damaging Het
Fat3 T C 9: 15,909,558 (GRCm39) D2148G probably benign Het
Fdps C A 3: 89,001,113 (GRCm39) R300L probably benign Het
Gfm2 T C 13: 97,315,540 (GRCm39) L736P probably benign Het
Grin2b T A 6: 135,756,301 (GRCm39) T475S probably damaging Het
H2-M3 T G 17: 37,581,599 (GRCm39) L87R probably damaging Het
Hao1 T A 2: 134,343,076 (GRCm39) I272F probably damaging Het
Hapln2 C T 3: 87,929,980 (GRCm39) G299S probably damaging Het
Hdac3 A T 18: 38,078,408 (GRCm39) I154N probably damaging Het
Herc1 A G 9: 66,352,829 (GRCm39) D2105G probably damaging Het
Kcna2 T C 3: 107,012,658 (GRCm39) F413S probably damaging Het
Kctd13 A G 7: 126,528,458 (GRCm39) T78A possibly damaging Het
Kif20a A G 18: 34,758,591 (GRCm39) D20G probably benign Het
Kif26b A T 1: 178,744,061 (GRCm39) I1386F probably benign Het
Klc4 T A 17: 46,942,810 (GRCm39) M585L probably benign Het
Lrp5 A T 19: 3,654,094 (GRCm39) I1111N possibly damaging Het
Lrriq1 A T 10: 103,050,807 (GRCm39) D648E possibly damaging Het
Mmp2 G A 8: 93,563,564 (GRCm39) G346D probably damaging Het
Mrgpra4 T A 7: 47,631,377 (GRCm39) I75L probably benign Het
Muc4 T A 16: 32,586,076 (GRCm39) V537D Het
Myh2 T A 11: 67,070,237 (GRCm39) probably null Het
Myrf T C 19: 10,194,091 (GRCm39) T487A probably damaging Het
Nalcn A T 14: 123,753,050 (GRCm39) L312H probably damaging Het
Nop14 G A 5: 34,802,124 (GRCm39) P560L probably damaging Het
Nufip1 C G 14: 76,348,427 (GRCm39) P19A probably benign Het
Oosp3 G T 19: 11,678,322 (GRCm39) M99I probably benign Het
Or14c40 T C 7: 86,313,880 (GRCm39) *337Q probably null Het
Or4c52 A T 2: 89,845,393 (GRCm39) I40F probably damaging Het
Or4x13 T A 2: 90,231,367 (GRCm39) Y121N probably damaging Het
Or51aa5 C A 7: 103,167,166 (GRCm39) V142L possibly damaging Het
Or51k2 A G 7: 103,596,607 (GRCm39) N278S probably benign Het
Or52n4b C A 7: 108,144,598 (GRCm39) P289T probably damaging Het
Or6b2b A G 1: 92,419,042 (GRCm39) V145A probably benign Het
Or7e175 T C 9: 20,040,307 (GRCm39) Het
Panx2 A G 15: 88,952,169 (GRCm39) K212R probably damaging Het
Paxip1 A C 5: 27,977,002 (GRCm39) H353Q unknown Het
Pbx4 C A 8: 70,285,475 (GRCm39) D39E probably damaging Het
Phc2 G A 4: 128,604,932 (GRCm39) A223T probably benign Het
Plcl1 A G 1: 55,445,608 (GRCm39) D21G probably benign Het
Plec G A 15: 76,057,632 (GRCm39) R4102W probably damaging Het
Plekhh2 A G 17: 84,884,608 (GRCm39) Y774C probably benign Het
Polr2a A T 11: 69,630,828 (GRCm39) Y1197N probably damaging Het
Psmg4 A T 13: 34,347,195 (GRCm39) H46L probably benign Het
Ptprk A G 10: 28,436,084 (GRCm39) Y815C probably damaging Het
Qrich2 T C 11: 116,346,547 (GRCm39) I1426V probably benign Het
Rbm43 T C 2: 51,816,763 (GRCm39) D68G probably benign Het
Rgs6 T C 12: 83,153,644 (GRCm39) S360P probably damaging Het
Rp1l1 T G 14: 64,267,588 (GRCm39) L1058R probably damaging Het
Rreb1 A G 13: 38,077,874 (GRCm39) S29G probably benign Het
Scube1 C A 15: 83,522,988 (GRCm39) R284L possibly damaging Het
Serpinb9h G T 13: 33,588,299 (GRCm39) D295Y probably benign Het
Slc13a3 T C 2: 165,272,242 (GRCm39) Q267R probably benign Het
Slc49a3 T C 5: 108,596,685 (GRCm39) T16A probably benign Het
Slc5a1 A T 5: 33,318,288 (GRCm39) N647I probably damaging Het
Sphk2 A T 7: 45,361,006 (GRCm39) S333T probably benign Het
Sptan1 A G 2: 29,890,068 (GRCm39) D1050G probably benign Het
Tdo2 G T 3: 81,870,065 (GRCm39) A269E probably damaging Het
Tnc A T 4: 63,938,648 (GRCm39) C64S probably damaging Het
Trim47 T A 11: 115,998,383 (GRCm39) E360D probably damaging Het
Trp53i13 T A 11: 77,399,129 (GRCm39) T374S possibly damaging Het
Try5 A G 6: 41,288,748 (GRCm39) L157P probably benign Het
Ttn A T 2: 76,578,176 (GRCm39) V24239D probably damaging Het
Ttn T C 2: 76,773,667 (GRCm39) Y2318C unknown Het
Txn1 T C 4: 57,945,199 (GRCm39) D68G possibly damaging Het
Upf3a A G 8: 13,837,418 (GRCm39) D121G probably damaging Het
Vmn2r114 T C 17: 23,510,239 (GRCm39) Y747C probably damaging Het
Vmn2r68 A G 7: 84,881,587 (GRCm39) W498R probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Zp2 A T 7: 119,733,167 (GRCm39) F591L probably damaging Het
Other mutations in Lrp4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCATGAGGACATCATCACTACAG -3'
(R):5'- CAGTGCTCCTATGCTTCATGG -3'

Sequencing Primer
(F):5'- ACTACAGGTGAGCCTTCCTC -3'
(R):5'- TTCACCTATCCATAGTCTCGGCTAAG -3'
Posted On 2019-10-24