Incidental Mutation 'R9748:Lrp4'
ID 732292
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.774) question?
Stock # R9748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91287856-91344124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91316116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 745 (L745F)
Ref Sequence ENSEMBL: ENSMUSP00000028689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028689]
AlphaFold Q8VI56
Predicted Effect probably damaging
Transcript: ENSMUST00000028689
AA Change: L745F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: L745F

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: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,301,068 (GRCm39) T221A probably benign Het
Adamts12 G A 15: 11,310,628 (GRCm39) V962I probably damaging Het
Ano3 T A 2: 110,488,640 (GRCm39) I931F probably damaging Het
Anxa2r2 T A 13: 120,488,200 (GRCm39) E116D possibly damaging Het
Arih1 T G 9: 59,300,581 (GRCm39) D555A possibly damaging Het
Arsg A G 11: 109,381,452 (GRCm39) D65G probably damaging Het
Atp8b3 G A 10: 80,364,407 (GRCm39) T567I probably damaging Het
Camkk2 G C 5: 122,872,182 (GRCm39) R575G probably benign Het
Ccdc168 G T 1: 44,095,824 (GRCm39) S1758Y possibly damaging Het
Ccdc88b G T 19: 6,831,461 (GRCm39) L494M probably damaging Het
Cdc7 A G 5: 107,123,405 (GRCm39) K317E possibly damaging Het
Cfh A G 1: 140,090,687 (GRCm39) probably null Het
Cp T G 3: 20,043,335 (GRCm39) V1041G possibly damaging Het
Cpeb3 A G 19: 37,151,926 (GRCm39) V150A probably benign Het
Cyp7a1 T A 4: 6,269,216 (GRCm39) E352V probably damaging Het
Dnah9 T A 11: 65,976,290 (GRCm39) H1253L possibly damaging Het
Dsg3 T C 18: 20,672,761 (GRCm39) S811P possibly damaging Het
Efcab5 A T 11: 77,007,022 (GRCm39) Y867* probably null Het
Eif2ak1 A G 5: 143,819,031 (GRCm39) T231A probably damaging Het
Eif2ak4 T A 2: 118,247,730 (GRCm39) C256S probably benign Het
Eif5b A G 1: 38,090,241 (GRCm39) N1140S possibly damaging Het
Etnppl A T 3: 130,414,002 (GRCm39) M34L probably benign Het
Fcrl5 T G 3: 87,364,469 (GRCm39) C549W possibly damaging Het
Fhod1 G A 8: 106,058,323 (GRCm39) A811V probably damaging Het
Flcn C T 11: 59,692,980 (GRCm39) S198N probably benign Het
Fndc1 T A 17: 7,991,929 (GRCm39) H589L unknown Het
Gm8108 G T 14: 4,110,527 (GRCm38) probably benign Het
Hcn4 C T 9: 58,730,996 (GRCm39) R68W unknown Het
Igfn1 A G 1: 135,926,336 (GRCm39) L38P possibly damaging Het
Il1r1 A G 1: 40,349,496 (GRCm39) T351A probably benign Het
Ildr2 T C 1: 166,096,889 (GRCm39) L36P probably damaging Het
Itgb1bp1 C T 12: 21,324,876 (GRCm39) C60Y probably damaging Het
Jrk A G 15: 74,579,225 (GRCm39) L20P probably damaging Het
Kif5c C T 2: 49,584,859 (GRCm39) A194V probably damaging Het
Ly9 A T 1: 171,428,722 (GRCm39) D299E possibly damaging Het
Mfsd1 C T 3: 67,499,910 (GRCm39) T185I possibly damaging Het
Mprip A G 11: 59,656,348 (GRCm39) Y808C probably damaging Het
Mrps2 C A 2: 28,359,594 (GRCm39) H150Q possibly damaging Het
Mtcl3 A T 10: 29,024,398 (GRCm39) D438V probably damaging Het
Mturn A T 6: 54,665,989 (GRCm39) probably null Het
Myo5a T C 9: 75,091,965 (GRCm39) S1205P probably damaging Het
Nckap5 G A 1: 125,953,939 (GRCm39) P871L probably damaging Het
Ndst3 T A 3: 123,421,631 (GRCm39) I401F probably benign Het
Nek4 G A 14: 30,709,114 (GRCm39) V723M possibly damaging Het
Nfe2l2 A G 2: 75,506,667 (GRCm39) S478P probably damaging Het
Nol6 T C 4: 41,123,538 (GRCm39) Y70C probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Oas1h A T 5: 121,005,088 (GRCm39) N179Y probably damaging Het
Or1o11 T G 17: 37,756,595 (GRCm39) V61G probably benign Het
Or8b39 T A 9: 37,996,353 (GRCm39) S74T probably benign Het
Otof T C 5: 30,540,998 (GRCm39) D847G probably damaging Het
Pak1 C A 7: 97,547,842 (GRCm39) D331E possibly damaging Het
Pkd1l3 T C 8: 110,373,555 (GRCm39) W1374R probably benign Het
Pkdrej G T 15: 85,704,871 (GRCm39) T355K possibly damaging Het
Pramel27 A G 4: 143,579,892 (GRCm39) *492W probably null Het
Prkcd A T 14: 30,320,800 (GRCm39) F607I possibly damaging Het
Prrc2c A G 1: 162,535,435 (GRCm39) S775P unknown Het
Prss16 G T 13: 22,192,504 (GRCm39) H154N possibly damaging Het
Psme2b T C 11: 48,836,779 (GRCm39) D56G possibly damaging Het
Rapsn C T 2: 90,875,823 (GRCm39) P400L probably damaging Het
Rptn A G 3: 93,304,761 (GRCm39) D698G possibly damaging Het
Rragc T C 4: 123,818,658 (GRCm39) V291A possibly damaging Het
Rras2 A G 7: 113,716,629 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scyl2 A C 10: 89,476,794 (GRCm39) M777R probably benign Het
Serhl G T 15: 82,998,597 (GRCm39) V235L probably benign Het
Sh2b3 T C 5: 121,955,874 (GRCm39) Y536C probably damaging Het
Sh3pxd2a T C 19: 47,257,093 (GRCm39) M570V probably benign Het
Slamf8 C T 1: 172,411,800 (GRCm39) V232M probably benign Het
Slc6a21 T A 7: 44,929,941 (GRCm39) L143Q probably damaging Het
Snx9 T A 17: 5,949,670 (GRCm39) D123E probably benign Het
Spopfm2 G A 3: 94,083,155 (GRCm39) H219Y probably damaging Het
Supt6 C A 11: 78,108,767 (GRCm39) R1178L probably damaging Het
Sycp2 T G 2: 178,025,304 (GRCm39) E379D probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tg A G 15: 66,719,008 (GRCm39) M2655V possibly damaging Het
Tiam2 C T 17: 3,561,440 (GRCm39) T1335I probably benign Het
Tmem154 T A 3: 84,573,693 (GRCm39) L12Q possibly damaging Het
Trpv3 A T 11: 73,174,499 (GRCm39) I289F possibly damaging Het
Tubgcp3 A G 8: 12,699,758 (GRCm39) L365P probably damaging Het
Tulp4 T C 17: 6,291,480 (GRCm39) probably null Het
Tyr A G 7: 87,142,072 (GRCm39) S163P possibly damaging Het
Usp42 A T 5: 143,713,533 (GRCm39) probably null Het
Vmn2r94 A G 17: 18,463,989 (GRCm39) M767T probably benign Het
Wasl A G 6: 24,619,533 (GRCm39) V329A unknown Het
Wdr62 T A 7: 29,953,466 (GRCm39) M635L possibly damaging Het
Wee1 G T 7: 109,721,722 (GRCm39) E56* probably null Het
Zc3h12c C T 9: 52,055,231 (GRCm39) G193S probably damaging Het
Zfp236 T A 18: 82,637,008 (GRCm39) Q1426L possibly damaging Het
Zfp74 T C 7: 29,634,751 (GRCm39) Y319C 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
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
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'- AGCAGTGGAGTAAACTCTGCTC -3'
(R):5'- TTGGCCCTGCTGATGGTATC -3'

Sequencing Primer
(F):5'- TCTAACGTGTAATCCCCGAGG -3'
(R):5'- ATCAGTGCTGACATCTGTCCAATAC -3'
Posted On 2022-11-14