Incidental Mutation 'R1934:Lrp4'
ID 215643
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 039952-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R1934 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 91287856-91344124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91310777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 606 (D606G)
Ref Sequence ENSEMBL: ENSMUSP00000028689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028689]
AlphaFold Q8VI56
Predicted Effect probably damaging
Transcript: ENSMUST00000028689
AA Change: D606G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: D606G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151907
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,626,792 (GRCm39) L548P probably damaging Het
Abca6 A G 11: 110,100,909 (GRCm39) probably null Het
Abcb5 A G 12: 118,871,235 (GRCm39) probably null Het
Acacb G A 5: 114,336,343 (GRCm39) A686T probably benign Het
Acot6 T C 12: 84,153,367 (GRCm39) V203A probably benign Het
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adamts9 A G 6: 92,920,102 (GRCm39) L12P possibly damaging Het
Adamtsl2 A T 2: 26,979,605 (GRCm39) D258V probably damaging Het
Aox4 G A 1: 58,285,095 (GRCm39) V616I probably benign Het
Ap1m1 A G 8: 73,009,637 (GRCm39) I382V probably damaging Het
Arhgef2 G A 3: 88,537,098 (GRCm39) R8Q probably damaging Het
Arhgef37 T G 18: 61,657,014 (GRCm39) E17A probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Arih1 T C 9: 59,302,215 (GRCm39) D431G probably damaging Het
Astn2 C T 4: 65,353,426 (GRCm39) V1115M probably damaging Het
Atg7 T A 6: 114,678,196 (GRCm39) M280K probably damaging Het
Birc2 T C 9: 7,854,500 (GRCm39) T397A possibly damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Cdadc1 A T 14: 59,827,309 (GRCm39) S121T possibly damaging Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Cenpb A G 2: 131,021,184 (GRCm39) S205P probably benign Het
Chsy1 T C 7: 65,821,991 (GRCm39) V742A probably damaging Het
Col12a1 G A 9: 79,511,804 (GRCm39) R133* probably null Het
Col18a1 A C 10: 76,948,578 (GRCm39) S311R possibly damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Coq2 T A 5: 100,809,731 (GRCm39) R17S probably damaging Het
Ctf1 A G 7: 127,311,936 (GRCm39) R4G probably damaging Het
Cwc27 T C 13: 104,768,184 (GRCm39) D437G probably benign Het
Cyp4f14 T C 17: 33,125,289 (GRCm39) N430D probably damaging Het
Dars2 A G 1: 160,890,811 (GRCm39) probably null Het
Dgkz A T 2: 91,767,449 (GRCm39) M848K possibly damaging Het
Dnhd1 T G 7: 105,357,789 (GRCm39) V3208G probably benign Het
Dsg1b A G 18: 20,528,963 (GRCm39) Y233C probably damaging Het
Edem3 A T 1: 151,680,034 (GRCm39) D460V probably damaging Het
Ednra A G 8: 78,415,747 (GRCm39) S167P possibly damaging Het
Eif3m A T 2: 104,831,624 (GRCm39) V180D probably damaging Het
Fam217a T A 13: 35,094,864 (GRCm39) R207S probably damaging Het
Fcgbp G A 7: 27,806,518 (GRCm39) G2162D probably damaging Het
Fhod3 A T 18: 25,223,335 (GRCm39) I894F probably benign Het
Fpgs A T 2: 32,577,993 (GRCm39) I143N probably damaging Het
Fpr-rs6 A G 17: 20,403,152 (GRCm39) S70P probably benign Het
Frs2 T C 10: 116,914,806 (GRCm39) M38V probably damaging Het
Fsip2 A G 2: 82,810,902 (GRCm39) N2407S possibly damaging Het
Gabrg2 T A 11: 41,811,297 (GRCm39) T283S probably benign Het
Gas2l1 T A 11: 5,011,408 (GRCm39) T474S probably benign Het
Gli1 A T 10: 127,167,108 (GRCm39) M715K possibly damaging Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5800 T A 14: 51,949,396 (GRCm39) N183I possibly damaging Het
Gm8674 T A 13: 50,055,471 (GRCm39) noncoding transcript Het
Gnat3 A T 5: 18,224,508 (GRCm39) I303F possibly damaging Het
Grin2d C T 7: 45,506,251 (GRCm39) V547M probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Heatr5b T C 17: 79,103,347 (GRCm39) I1169V possibly damaging Het
Icam5 A G 9: 20,946,082 (GRCm39) T305A probably benign Het
Itga11 T A 9: 62,651,796 (GRCm39) N309K probably damaging Het
Itgb6 T C 2: 60,499,493 (GRCm39) D100G probably benign Het
Kdm3b A G 18: 34,946,597 (GRCm39) K862R probably benign Het
Kif7 T C 7: 79,361,286 (GRCm39) D135G probably benign Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Metap1d A T 2: 71,352,927 (GRCm39) H252L possibly damaging Het
Mfhas1 A G 8: 36,058,251 (GRCm39) K909E possibly damaging Het
Mrgprh C T 17: 13,095,838 (GRCm39) T26I probably damaging Het
Myo15b T C 11: 115,754,310 (GRCm39) S937P probably benign Het
Neto2 A T 8: 86,397,033 (GRCm39) I73N possibly damaging Het
Nod2 T C 8: 89,390,347 (GRCm39) I196T probably benign Het
Nvl T G 1: 180,926,693 (GRCm39) T788P probably damaging Het
Or13a25 C A 7: 140,247,951 (GRCm39) C243* probably null Het
Or2h2 A T 17: 37,396,906 (GRCm39) D50E possibly damaging Het
Pax3 G A 1: 78,080,117 (GRCm39) T423I possibly damaging Het
Pde4dip A G 3: 97,600,007 (GRCm39) V2403A possibly damaging Het
Phip C T 9: 82,785,235 (GRCm39) V827I probably benign Het
Plcb3 A G 19: 6,941,977 (GRCm39) F285L probably damaging Het
Pnp2 A G 14: 51,193,675 (GRCm39) I16V probably benign Het
Pola2 A G 19: 6,003,769 (GRCm39) L202P probably damaging Het
Ppfia1 A T 7: 144,058,847 (GRCm39) N651K probably benign Het
Prss53 T C 7: 127,485,920 (GRCm39) probably null Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rasgrf2 A T 13: 92,131,825 (GRCm39) probably null Het
Rccd1 T A 7: 79,970,272 (GRCm39) N115I possibly damaging Het
Rpgrip1 A T 14: 52,352,101 (GRCm39) T26S possibly damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Slc36a4 T C 9: 15,632,085 (GRCm39) V87A probably damaging Het
Slc5a4b A T 10: 75,917,307 (GRCm39) V243E possibly damaging Het
Sos2 T G 12: 69,695,315 (GRCm39) I141L probably damaging Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tshr T C 12: 91,503,955 (GRCm39) S298P probably damaging Het
Tspan14 T C 14: 40,656,209 (GRCm39) Y6C probably damaging Het
Ttn A T 2: 76,577,384 (GRCm39) V24503E probably damaging Het
Vcan T A 13: 89,851,045 (GRCm39) N1305I probably damaging Het
Vmn2r81 A G 10: 79,083,628 (GRCm39) M1V probably null Het
Vps39 A T 2: 120,148,558 (GRCm39) V873E probably damaging Het
Vstm2a A T 11: 16,359,734 (GRCm39) D270V unknown Het
Wdr24 A T 17: 26,043,240 (GRCm39) M21L possibly damaging Het
Wee1 A G 7: 109,721,698 (GRCm39) T48A probably benign Het
Zfp369 T C 13: 65,444,965 (GRCm39) C703R probably damaging Het
Zfp532 A T 18: 65,818,682 (GRCm39) D1114V probably damaging Het
Zfp758 A G 17: 22,592,633 (GRCm39) T46A 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
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
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'- CACCGTGGCTGTCATTCATC -3'
(R):5'- TCAAACACTGTGATGGCAAAGG -3'

Sequencing Primer
(F):5'- GTGGCTGTCATTCATCAGTCC -3'
(R):5'- GGAGACAGTCCAAAAAGACCTTAGTC -3'
Posted On 2014-07-14