Incidental Mutation 'R1700:Lrp10'
ID189683
Institutional Source Beutler Lab
Gene Symbol Lrp10
Ensembl Gene ENSMUSG00000022175
Gene Namelow-density lipoprotein receptor-related protein 10
SynonymsLrp9
MMRRC Submission 039733-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1700 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location54464137-54471497 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54469752 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 682 (V682A)
Ref Sequence ENSEMBL: ENSMUSP00000022782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022782] [ENSMUST00000227760]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022782
AA Change: V682A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: V682A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CUB 29 137 5.33e-2 SMART
LDLa 140 177 5.26e-13 SMART
CUB 193 306 2.57e-4 SMART
LDLa 308 356 1.05e-3 SMART
LDLa 357 399 4.89e-2 SMART
LDLa 400 436 1.63e-9 SMART
transmembrane domain 442 464 N/A INTRINSIC
low complexity region 544 569 N/A INTRINSIC
low complexity region 614 629 N/A INTRINSIC
low complexity region 634 655 N/A INTRINSIC
low complexity region 672 681 N/A INTRINSIC
low complexity region 685 710 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226472
Predicted Effect probably benign
Transcript: ENSMUST00000227760
Predicted Effect probably benign
Transcript: ENSMUST00000228407
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik G A 2: 130,709,938 L1010F probably damaging Het
Abcb1b T C 5: 8,849,537 F936L probably benign Het
Adamts12 T A 15: 11,152,057 I211N probably benign Het
Adamts16 G A 13: 70,779,518 probably benign Het
Alas1 C T 9: 106,239,646 V293I possibly damaging Het
Ap1g1 T C 8: 109,853,612 Y569H probably damaging Het
Apc2 A G 10: 80,312,769 D1190G probably damaging Het
Astn2 G A 4: 65,746,354 Q679* probably null Het
Atp2a1 T A 7: 126,462,909 H5L probably damaging Het
Baiap3 T C 17: 25,249,328 K279E probably damaging Het
C2cd2l G A 9: 44,316,612 P111S probably benign Het
C7 T A 15: 5,002,792 K646* probably null Het
Ccp110 C T 7: 118,735,313 T1003I probably damaging Het
Cdh22 T C 2: 165,170,796 D123G probably damaging Het
Cep295 C T 9: 15,340,883 E397K probably damaging Het
Clip1 A G 5: 123,630,370 V722A probably benign Het
Cpsf4l A G 11: 113,702,075 F174S probably benign Het
Ctnna3 T C 10: 63,852,772 C332R probably damaging Het
Cxcl10 A T 5: 92,347,855 N76K probably damaging Het
Dnaja3 G A 16: 4,684,165 R11K probably null Het
Efcab10 A G 12: 33,395,171 T28A possibly damaging Het
Esrrg A G 1: 188,043,653 R103G probably damaging Het
Exosc2 A G 2: 31,670,806 K23E probably benign Het
Flot2 C T 11: 78,049,547 S40L possibly damaging Het
Fsip2 T C 2: 82,991,737 V5938A probably benign Het
Gclc A G 9: 77,776,289 T143A probably benign Het
Gpr37 A G 6: 25,669,624 V407A probably benign Het
Gucy2e A T 11: 69,232,058 M497K probably benign Het
Herc1 T A 9: 66,450,678 probably null Het
Hnrnpll A C 17: 80,034,105 S502A probably benign Het
Ipo11 G T 13: 106,795,662 T975N probably benign Het
Kif17 C T 4: 138,262,698 Q66* probably null Het
Lsmem1 A T 12: 40,180,678 L75Q probably damaging Het
Med16 A T 10: 79,899,335 Y430N probably benign Het
Med8 C T 4: 118,412,734 S72L possibly damaging Het
Mex3a A G 3: 88,536,375 T253A probably damaging Het
Myf6 T C 10: 107,493,359 K242E probably damaging Het
Ncald T A 15: 37,397,343 Y31F probably benign Het
Ndufa12 T A 10: 94,199,993 Y48N probably damaging Het
Olfr1111 T G 2: 87,149,779 N294T probably damaging Het
Olfr1145 T C 2: 87,810,768 V316A probably benign Het
Olfr638 T A 7: 104,004,122 Y282* probably null Het
Pde4dip T C 3: 97,703,323 T1858A probably benign Het
Pgbd1 A G 13: 21,434,481 L2P probably damaging Het
Piezo1 C T 8: 122,487,502 R1642H probably damaging Het
Plxna1 A T 6: 89,357,008 M213K probably damaging Het
Polr1b A G 2: 129,123,121 N709S probably damaging Het
Pramel1 T A 4: 143,398,429 W308R probably damaging Het
Prkag2 A T 5: 24,871,541 I208N probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rngtt T A 4: 33,330,864 F156I probably damaging Het
Rpusd3 A G 6: 113,415,533 *345Q probably null Het
Rrp1b A G 17: 32,057,204 K575R probably benign Het
Shd G A 17: 55,974,307 V250I probably damaging Het
Slc12a5 C A 2: 164,992,376 N749K possibly damaging Het
Sorbs2 T A 8: 45,800,984 V488D probably damaging Het
Sphkap G A 1: 83,277,515 R838* probably null Het
Srsf4 C A 4: 131,900,560 probably benign Het
Strn T C 17: 78,692,402 Y135C probably damaging Het
Synm T C 7: 67,759,628 M1V probably null Het
Tas1r3 T G 4: 155,861,570 Q489P probably benign Het
Tas2r103 A T 6: 133,036,811 N97K probably damaging Het
Tas2r113 A G 6: 132,893,792 Y261C possibly damaging Het
Tex21 T C 12: 76,221,672 E112G probably damaging Het
Trappc8 T C 18: 20,832,998 S1128G probably damaging Het
Ubap1l A G 9: 65,371,743 probably benign Het
Ubash3a A G 17: 31,215,044 D121G probably damaging Het
Ubxn4 A G 1: 128,252,286 I56V possibly damaging Het
Uri1 T C 7: 37,963,524 I348M probably damaging Het
Usp21 C A 1: 171,283,722 L379F probably damaging Het
Vmn1r159 T A 7: 22,842,965 H214L probably damaging Het
Zdbf2 A G 1: 63,302,741 E93G unknown Het
Other mutations in Lrp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Lrp10 APN 14 54468662 nonsense probably null
IGL02641:Lrp10 APN 14 54468611 nonsense probably null
IGL02697:Lrp10 APN 14 54469697 missense probably damaging 1.00
IGL02974:Lrp10 APN 14 54467884 nonsense probably null
IGL03030:Lrp10 APN 14 54469162 missense possibly damaging 0.69
chowmein UTSW 14 54468090 missense probably damaging 1.00
egg_fu_young UTSW 14 54469266 missense possibly damaging 0.66
R0452:Lrp10 UTSW 14 54467579 missense probably benign 0.08
R0765:Lrp10 UTSW 14 54468090 missense probably damaging 1.00
R1726:Lrp10 UTSW 14 54469656 missense probably damaging 0.99
R2943:Lrp10 UTSW 14 54469845 unclassified probably benign
R3746:Lrp10 UTSW 14 54469266 missense possibly damaging 0.66
R3749:Lrp10 UTSW 14 54469266 missense possibly damaging 0.66
R4356:Lrp10 UTSW 14 54468366 missense probably damaging 0.98
R4357:Lrp10 UTSW 14 54468366 missense probably damaging 0.98
R4358:Lrp10 UTSW 14 54468366 missense probably damaging 0.98
R4379:Lrp10 UTSW 14 54468366 missense probably damaging 0.98
R4380:Lrp10 UTSW 14 54468366 missense probably damaging 0.98
R4751:Lrp10 UTSW 14 54468592 missense probably damaging 1.00
R5055:Lrp10 UTSW 14 54468345 missense probably benign 0.00
R5133:Lrp10 UTSW 14 54469610 missense probably benign
R6633:Lrp10 UTSW 14 54469074 missense probably benign 0.03
R6845:Lrp10 UTSW 14 54469688 missense probably damaging 1.00
R6874:Lrp10 UTSW 14 54468213 missense possibly damaging 0.50
R6958:Lrp10 UTSW 14 54469821 unclassified probably benign
R6989:Lrp10 UTSW 14 54468493 missense probably benign 0.30
R7162:Lrp10 UTSW 14 54465706 missense possibly damaging 0.60
R7453:Lrp10 UTSW 14 54468456 missense probably damaging 1.00
R7600:Lrp10 UTSW 14 54469395 missense possibly damaging 0.93
X0026:Lrp10 UTSW 14 54469399 nonsense probably null
X0027:Lrp10 UTSW 14 54468535 missense probably damaging 1.00
Z1088:Lrp10 UTSW 14 54467922 missense probably benign 0.01
Z1177:Lrp10 UTSW 14 54467561 missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- GGGCCTGCTTCCTCGAACTAATAC -3'
(R):5'- TCTCCCTGCTGGAGAGACACTAAC -3'

Sequencing Primer
(F):5'- TCTGAGGCCCTGGATGAC -3'
(R):5'- GGAGAGACACTAACTTTCTGTGC -3'
Posted On2014-05-14