Incidental Mutation 'R8435:Lrp4'
ID 653932
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 067824-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R8435 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 91287856-91344124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91307998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 481 (L481P)
Ref Sequence ENSEMBL: ENSMUSP00000028689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028689]
AlphaFold Q8VI56
Predicted Effect probably damaging
Transcript: ENSMUST00000028689
AA Change: L481P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028689
Gene: ENSMUSG00000027253
AA Change: L481P

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik G T 12: 24,146,881 (GRCm39) T30K possibly damaging Het
Adam20 C T 8: 41,248,072 (GRCm39) P61S probably damaging Het
Akip1 C T 7: 109,304,193 (GRCm39) S90L unknown Het
Atp13a5 C T 16: 29,099,747 (GRCm39) probably null Het
Atp1a1 A G 3: 101,490,078 (GRCm39) Y684H probably benign Het
Bach2 T A 4: 32,501,682 (GRCm39) C20S possibly damaging Het
Cage1 T C 13: 38,203,161 (GRCm39) I634M possibly damaging Het
Cckbr T C 7: 105,075,280 (GRCm39) S17P probably benign Het
Celsr2 T C 3: 108,321,715 (GRCm39) T366A probably benign Het
Cps1 G A 1: 67,251,589 (GRCm39) V1196I probably benign Het
Ddc A T 11: 11,814,902 (GRCm39) S188T probably damaging Het
Eml4 T C 17: 83,729,070 (GRCm39) C82R possibly damaging Het
Fig4 T A 10: 41,161,670 (GRCm39) H31L probably benign Het
Fkbp5 T C 17: 28,621,752 (GRCm39) D366G possibly damaging Het
Ift80 A G 3: 68,892,787 (GRCm39) S134P probably damaging Het
Lacc1 A T 14: 77,272,475 (GRCm39) V107D possibly damaging Het
Lcp2 A G 11: 34,004,316 (GRCm39) E51G probably damaging Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Lrp1 A G 10: 127,392,199 (GRCm39) Y2815H probably damaging Het
Ltbp4 C A 7: 27,034,870 (GRCm39) R97L unknown Het
Mbnl1 G A 3: 60,437,090 (GRCm39) W13* probably null Het
Neb T A 2: 52,157,729 (GRCm39) T2293S probably benign Het
Nrg3 CCCGCCGCCGCCGCCGCCGC CCCGCCGCCGCCGCCGC 14: 39,194,654 (GRCm39) probably benign Het
Odr4 T G 1: 150,258,020 (GRCm39) K205T possibly damaging Het
Or56b1 A T 7: 104,285,657 (GRCm39) T259S probably benign Het
Or5v1 A G 17: 37,809,676 (GRCm39) I45V probably benign Het
Or8a1b T A 9: 37,622,846 (GRCm39) H243L probably damaging Het
Pcmt1 G A 10: 7,515,825 (GRCm39) P221L possibly damaging Het
Plag1 T A 4: 3,905,648 (GRCm39) D14V probably benign Het
Ppp4r3a A G 12: 101,049,048 (GRCm39) S28P probably benign Het
Rab11fip5 T A 6: 85,314,522 (GRCm39) I1232F possibly damaging Het
Rpl18a C T 8: 71,348,341 (GRCm39) G114D possibly damaging Het
Rtel1 A G 2: 180,995,897 (GRCm39) D927G possibly damaging Het
Shcbp1 C T 8: 4,798,734 (GRCm39) C395Y probably benign Het
Slc22a28 T A 19: 8,048,565 (GRCm39) T361S probably benign Het
Slc35f5 C T 1: 125,488,994 (GRCm39) R5* probably null Het
Slc37a4 G A 9: 44,310,759 (GRCm39) C121Y probably damaging Het
Sorcs3 C T 19: 48,194,913 (GRCm39) R99W possibly damaging Het
Tc2n C T 12: 101,615,376 (GRCm39) W483* probably null Het
Tex101 G A 7: 24,367,791 (GRCm39) T187I probably damaging Het
Trpc6 T C 9: 8,610,441 (GRCm39) L303P probably damaging Het
Trpv5 A T 6: 41,647,827 (GRCm39) Y329N probably damaging Het
Tshz1 C A 18: 84,032,149 (GRCm39) S753I probably damaging Het
Ttn G A 2: 76,546,264 (GRCm39) T32383I probably damaging Het
Txlnb A G 10: 17,703,544 (GRCm39) E234G probably damaging Het
Vmn1r120 T A 7: 20,787,557 (GRCm39) R51S probably benign Het
Vmn2r17 A T 5: 109,576,172 (GRCm39) T348S probably benign Het
Zdhhc21 T C 4: 82,753,714 (GRCm39) Y158C probably damaging Het
Zfp236 C T 18: 82,658,366 (GRCm39) G632D 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
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'- ATGCTCTAGTGGGCAAAGG -3'
(R):5'- CACTTTGGAAACACTGGCCC -3'

Sequencing Primer
(F):5'- TATGAGCTGAGGCCCTGAG -3'
(R):5'- GCTCTCTAGCCCAGTAGA -3'
Posted On 2020-10-20