Incidental Mutation 'R0765:Lrp10'
ID 72623
Institutional Source Beutler Lab
Gene Symbol Lrp10
Ensembl Gene ENSMUSG00000022175
Gene Name low-density lipoprotein receptor-related protein 10
Synonyms Lrp9
MMRRC Submission 038945-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0765 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 54701260-54707749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54705547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 246 (D246Y)
Ref Sequence ENSEMBL: ENSMUSP00000022782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022782] [ENSMUST00000227760]
AlphaFold Q7TQH7
Predicted Effect probably damaging
Transcript: ENSMUST00000022782
AA Change: D246Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: D246Y

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: ENSMUST00000226346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226472
Predicted Effect probably benign
Transcript: ENSMUST00000227760
Predicted Effect probably benign
Transcript: ENSMUST00000228407
Meta Mutation Damage Score 0.9232 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.7%
Validation Efficiency 100% (62/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T A 17: 35,320,827 (GRCm39) V425D probably benign Het
Ano9 T G 7: 140,687,097 (GRCm39) I381L probably damaging Het
Apob C T 12: 8,066,518 (GRCm39) L4496F probably benign Het
Arhgef38 C T 3: 132,822,344 (GRCm39) E724K probably damaging Het
Atp8b4 T A 2: 126,214,070 (GRCm39) probably null Het
Baiap2l1 G T 5: 144,214,513 (GRCm39) P394T probably damaging Het
Btbd8 T A 5: 107,654,800 (GRCm39) D354E probably benign Het
Cnbp C A 6: 87,822,155 (GRCm39) C122F probably damaging Het
Col3a1 A G 1: 45,375,811 (GRCm39) probably benign Het
Colq T G 14: 31,247,994 (GRCm39) D408A possibly damaging Het
Cuzd1 A T 7: 130,917,824 (GRCm39) S259T probably benign Het
Cyp3a57 A G 5: 145,327,220 (GRCm39) probably benign Het
Dbn1 C A 13: 55,630,107 (GRCm39) V112F probably damaging Het
Dcc T A 18: 71,496,061 (GRCm39) D1028V probably damaging Het
Dnajb11 T C 16: 22,681,318 (GRCm39) V32A probably damaging Het
Dsg4 G A 18: 20,587,703 (GRCm39) probably benign Het
Dyrk1b C T 7: 27,885,136 (GRCm39) probably benign Het
Ebf1 T A 11: 44,759,987 (GRCm39) M208K probably damaging Het
Efhc1 A G 1: 21,048,876 (GRCm39) I430V probably benign Het
Elovl2 T C 13: 41,340,942 (GRCm39) Y181C probably benign Het
Fras1 A G 5: 96,700,655 (GRCm39) Q225R probably benign Het
Frmd3 G A 4: 74,080,004 (GRCm39) R332Q probably damaging Het
Glg1 A G 8: 111,886,429 (GRCm39) probably null Het
Hmcn1 G A 1: 150,684,538 (GRCm39) T344M probably damaging Het
Il1rap T G 16: 26,529,382 (GRCm39) probably null Het
Klra1 A T 6: 130,356,055 (GRCm39) probably benign Het
Larp7 C A 3: 127,339,814 (GRCm39) K289N probably damaging Het
Lgr6 C A 1: 134,921,624 (GRCm39) G240V probably benign Het
Map3k20 G A 2: 72,202,269 (GRCm39) V167I probably damaging Het
Med23 T C 10: 24,776,608 (GRCm39) S347P probably damaging Het
Mybph T C 1: 134,125,234 (GRCm39) V254A possibly damaging Het
Ndufv2 A G 17: 66,408,073 (GRCm39) probably benign Het
Nuf2 A T 1: 169,350,505 (GRCm39) probably benign Het
Nup210l T C 3: 90,027,184 (GRCm39) Y189H probably damaging Het
Or4c52 G A 2: 89,846,014 (GRCm39) V247I probably benign Het
Or51t4 C T 7: 102,597,939 (GRCm39) T79I probably damaging Het
Or5m13 T C 2: 85,749,049 (GRCm39) L260P probably damaging Het
Pdgfra C A 5: 75,348,648 (GRCm39) probably benign Het
Phlpp1 T C 1: 106,320,013 (GRCm39) L1336P probably damaging Het
Prpf38b T C 3: 108,818,734 (GRCm39) T9A possibly damaging Het
Rnf213 G A 11: 119,313,921 (GRCm39) probably null Het
Saal1 A T 7: 46,349,071 (GRCm39) V281E possibly damaging Het
Slc17a3 C T 13: 24,030,879 (GRCm39) Q186* probably null Het
Slc6a2 A G 8: 93,715,659 (GRCm39) T266A probably damaging Het
Snai2 T C 16: 14,524,668 (GRCm39) V58A possibly damaging Het
Srfbp1 T C 18: 52,623,507 (GRCm39) probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tesk1 C T 4: 43,446,706 (GRCm39) P365S possibly damaging Het
Tmem127 C A 2: 127,099,069 (GRCm39) T201K probably damaging Het
Trim17 T G 11: 58,862,195 (GRCm39) V409G possibly damaging Het
Trim43c C T 9: 88,723,969 (GRCm39) T165I probably benign Het
Ush2a C A 1: 188,680,771 (GRCm39) F4916L possibly damaging Het
Vmn1r89 A G 7: 12,953,467 (GRCm39) M68V probably benign Het
Vmn2r105 C T 17: 20,447,973 (GRCm39) E284K probably benign Het
Vmn2r105 T C 17: 20,448,119 (GRCm39) D235G probably damaging Het
Vmn2r-ps134 C T 17: 23,665,015 (GRCm39) noncoding transcript Het
Zdbf2 G A 1: 63,344,882 (GRCm39) S1087N possibly damaging Het
Zfp534 G A 4: 147,758,693 (GRCm39) P659S probably damaging Het
Other mutations in Lrp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01951:Lrp10 APN 14 54,706,119 (GRCm39) nonsense probably null
IGL02641:Lrp10 APN 14 54,706,068 (GRCm39) nonsense probably null
IGL02697:Lrp10 APN 14 54,707,154 (GRCm39) missense probably damaging 1.00
IGL02974:Lrp10 APN 14 54,705,341 (GRCm39) nonsense probably null
IGL03030:Lrp10 APN 14 54,706,619 (GRCm39) missense possibly damaging 0.69
chowmein UTSW 14 54,705,547 (GRCm39) missense probably damaging 1.00
egg_fu_young UTSW 14 54,706,723 (GRCm39) missense possibly damaging 0.66
R0452:Lrp10 UTSW 14 54,705,036 (GRCm39) missense probably benign 0.08
R1700:Lrp10 UTSW 14 54,707,209 (GRCm39) missense possibly damaging 0.94
R1726:Lrp10 UTSW 14 54,707,113 (GRCm39) missense probably damaging 0.99
R2943:Lrp10 UTSW 14 54,707,302 (GRCm39) unclassified probably benign
R3746:Lrp10 UTSW 14 54,706,723 (GRCm39) missense possibly damaging 0.66
R3749:Lrp10 UTSW 14 54,706,723 (GRCm39) missense possibly damaging 0.66
R4356:Lrp10 UTSW 14 54,705,823 (GRCm39) missense probably damaging 0.98
R4357:Lrp10 UTSW 14 54,705,823 (GRCm39) missense probably damaging 0.98
R4358:Lrp10 UTSW 14 54,705,823 (GRCm39) missense probably damaging 0.98
R4379:Lrp10 UTSW 14 54,705,823 (GRCm39) missense probably damaging 0.98
R4380:Lrp10 UTSW 14 54,705,823 (GRCm39) missense probably damaging 0.98
R4751:Lrp10 UTSW 14 54,706,049 (GRCm39) missense probably damaging 1.00
R5055:Lrp10 UTSW 14 54,705,802 (GRCm39) missense probably benign 0.00
R5133:Lrp10 UTSW 14 54,707,067 (GRCm39) missense probably benign
R6633:Lrp10 UTSW 14 54,706,531 (GRCm39) missense probably benign 0.03
R6845:Lrp10 UTSW 14 54,707,145 (GRCm39) missense probably damaging 1.00
R6874:Lrp10 UTSW 14 54,705,670 (GRCm39) missense possibly damaging 0.50
R6958:Lrp10 UTSW 14 54,707,278 (GRCm39) unclassified probably benign
R6989:Lrp10 UTSW 14 54,705,950 (GRCm39) missense probably benign 0.30
R7162:Lrp10 UTSW 14 54,703,163 (GRCm39) missense possibly damaging 0.60
R7453:Lrp10 UTSW 14 54,705,913 (GRCm39) missense probably damaging 1.00
R7600:Lrp10 UTSW 14 54,706,852 (GRCm39) missense possibly damaging 0.93
R9087:Lrp10 UTSW 14 54,705,621 (GRCm39) missense probably damaging 0.99
X0026:Lrp10 UTSW 14 54,706,856 (GRCm39) nonsense probably null
X0027:Lrp10 UTSW 14 54,705,992 (GRCm39) missense probably damaging 1.00
Z1088:Lrp10 UTSW 14 54,705,379 (GRCm39) missense probably benign 0.01
Z1177:Lrp10 UTSW 14 54,705,018 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- AATTCCAGTGCCTGAACCACCG -3'
(R):5'- TGTCCCAAGGTAAACAGTAGCCCC -3'

Sequencing Primer
(F):5'- TGAACCACCGCTGCATTC -3'
(R):5'- AGTAGCCCCGGACATGGTAG -3'
Posted On 2013-09-30