Incidental Mutation 'R6189:Lrp4'
ID 502357
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 044329-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R6189 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 91287856-91344124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91305579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 283 (V283A)
Ref Sequence ENSEMBL: ENSMUSP00000028689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028689]
AlphaFold Q8VI56
Predicted Effect possibly damaging
Transcript: ENSMUST00000028689
AA Change: V283A

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: V283A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,474,222 (GRCm39) probably benign Het
Abca8a T C 11: 109,921,710 (GRCm39) D1448G probably damaging Het
Actn2 C T 13: 12,291,326 (GRCm39) D693N probably damaging Het
Adam3 A C 8: 25,201,352 (GRCm39) I267R probably benign Het
Aldh1l2 A G 10: 83,343,877 (GRCm39) probably null Het
C4bp T C 1: 130,564,556 (GRCm39) Y376C probably damaging Het
Cacna1h A G 17: 25,616,818 (GRCm39) W101R probably damaging Het
Ccdc97 T A 7: 25,415,523 (GRCm39) T47S probably benign Het
Cenatac G A 9: 44,321,618 (GRCm39) R328C probably benign Het
Cnot6l G A 5: 96,246,136 (GRCm39) T171I probably benign Het
Cntnap2 T A 6: 47,248,232 (GRCm39) S1213T probably damaging Het
Cxcl10 A T 5: 92,495,972 (GRCm39) L55Q probably benign Het
Cyp1a1 T C 9: 57,607,966 (GRCm39) V198A probably damaging Het
Dclre1b A G 3: 103,710,849 (GRCm39) V354A probably damaging Het
Dmxl1 C T 18: 50,026,402 (GRCm39) H1837Y probably benign Het
Dnajc13 G C 9: 104,091,085 (GRCm39) D665E probably benign Het
Dnmbp T C 19: 43,878,748 (GRCm39) T108A probably benign Het
Dnmbp T A 19: 43,889,950 (GRCm39) T606S probably benign Het
Dok5 T A 2: 170,642,771 (GRCm39) I23N probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epha5 A T 5: 84,385,399 (GRCm39) F311I probably damaging Het
Erbb4 T A 1: 68,083,075 (GRCm39) M1059L probably benign Het
Fbxo40 A G 16: 36,786,526 (GRCm39) I681T probably benign Het
Flg2 T A 3: 93,127,381 (GRCm39) C2098S unknown Het
Gpr87 T A 3: 59,086,650 (GRCm39) D285V probably damaging Het
Hrh1 T A 6: 114,456,959 (GRCm39) V80D probably damaging Het
Hunk G A 16: 90,284,769 (GRCm39) R351K probably benign Het
Ifna12 A G 4: 88,521,248 (GRCm39) W100R probably damaging Het
Ift57 G A 16: 49,584,176 (GRCm39) G310S probably damaging Het
Igf1r T A 7: 67,857,084 (GRCm39) Y1015* probably null Het
Igkv14-130 T C 6: 67,768,432 (GRCm39) I96T probably damaging Het
Il34 C T 8: 111,469,350 (GRCm39) S155N probably benign Het
Itga7 T C 10: 128,786,272 (GRCm39) S938P possibly damaging Het
Itgam A G 7: 127,711,676 (GRCm39) M764V probably benign Het
Lao1 T A 4: 118,825,077 (GRCm39) M299K probably benign Het
Lnpep A T 17: 17,787,001 (GRCm39) S533T possibly damaging Het
Magi3 G T 3: 103,958,181 (GRCm39) H635N probably damaging Het
Mecr A T 4: 131,592,565 (GRCm39) probably null Het
Mgrn1 T C 16: 4,728,674 (GRCm39) probably null Het
Mical2 A C 7: 112,012,087 (GRCm39) N646H probably damaging Het
Mymk C T 2: 26,957,377 (GRCm39) V39I possibly damaging Het
Nav3 T C 10: 109,555,880 (GRCm39) S1684G probably damaging Het
Ntn5 A T 7: 45,342,644 (GRCm39) D330V probably benign Het
Nup42 G T 5: 24,380,452 (GRCm39) G149V probably damaging Het
Nutm2 T A 13: 50,623,774 (GRCm39) V157D possibly damaging Het
Obscn T C 11: 58,960,760 (GRCm39) I3460V probably benign Het
Or8u10 A T 2: 85,915,257 (GRCm39) M288K possibly damaging Het
Pakap A G 4: 57,855,928 (GRCm39) E419G probably benign Het
Pcdh15 C T 10: 74,178,483 (GRCm39) A580V probably null Het
Pcdhb10 T A 18: 37,545,456 (GRCm39) H177Q probably damaging Het
Pitx2 T C 3: 129,012,118 (GRCm39) Y130H probably damaging Het
Pmch G T 10: 87,927,248 (GRCm39) probably null Het
Pofut2 T A 10: 77,104,420 (GRCm39) I399N probably damaging Het
Prr36 C A 8: 4,264,177 (GRCm39) probably benign Het
Ptprq C A 10: 107,353,748 (GRCm39) C2256F probably damaging Het
Rassf5 G A 1: 131,172,716 (GRCm39) A51V probably damaging Het
Retnla A G 16: 48,663,258 (GRCm39) I54V probably benign Het
Rimbp2 A G 5: 128,880,961 (GRCm39) L142P probably benign Het
Ripk1 A G 13: 34,216,484 (GRCm39) T564A probably benign Het
Robo4 G A 9: 37,314,829 (GRCm39) E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Homo
Rusc1 A T 3: 88,996,319 (GRCm39) L132Q probably damaging Het
Serpinb9h A T 13: 33,588,427 (GRCm39) E337D probably benign Het
Setd1a T C 7: 127,377,455 (GRCm39) probably null Het
Slc38a6 A T 12: 73,356,970 (GRCm39) K122M probably damaging Het
Speer4a2 A G 5: 26,290,691 (GRCm39) I160T probably benign Het
Susd5 A T 9: 113,924,726 (GRCm39) D203V probably damaging Het
Trip4 G A 9: 65,786,434 (GRCm39) R110* probably null Het
Tuba4a T A 1: 75,193,518 (GRCm39) I95F probably benign Het
Ube2q2 T A 9: 55,070,267 (GRCm39) S70T probably benign Het
Umodl1 A G 17: 31,215,256 (GRCm39) I1027V possibly damaging Het
Unc80 G A 1: 66,716,630 (GRCm39) V2917I probably benign Het
Vmn1r70 T A 7: 10,367,598 (GRCm39) C29S probably benign Het
Vmn2r94 A T 17: 18,477,996 (GRCm39) D138E probably benign Het
Wee2 C T 6: 40,426,617 (GRCm39) H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,723,440 (GRCm39) probably benign Het
Zfp872 A T 9: 22,108,427 (GRCm39) D42V probably benign Het
Zic5 T G 14: 122,702,386 (GRCm39) D115A unknown 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
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'- TTGGGTGCAGATAGAGCATG -3'
(R):5'- TGACCCTACTCACTGGGAAG -3'

Sequencing Primer
(F):5'- AAGGATACCTGTCGCCTAGTAGTC -3'
(R):5'- CTACTCACTGGGAAGGGCAG -3'
Posted On 2018-02-27