Incidental Mutation 'R6989:Lrp10'
ID 543163
Institutional Source Beutler Lab
Gene Symbol Lrp10
Ensembl Gene ENSMUSG00000022175
Gene Name low-density lipoprotein receptor-related protein 10
Synonyms Lrp9
MMRRC Submission 045095-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6989 (G1)
Quality Score 211.009
Status Not validated
Chromosome 14
Chromosomal Location 54701260-54707749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54705950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 380 (D380G)
Ref Sequence ENSEMBL: ENSMUSP00000022782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022782] [ENSMUST00000227760]
AlphaFold Q7TQH7
Predicted Effect probably benign
Transcript: ENSMUST00000022782
AA Change: D380G

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: D380G

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 probably benign
Transcript: ENSMUST00000227760
Predicted Effect probably benign
Transcript: ENSMUST00000228407
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,076 (GRCm39) R107H probably damaging Het
4930438A08Rik T C 11: 58,178,228 (GRCm39) V96A possibly damaging Het
Abcc2 A G 19: 43,820,611 (GRCm39) D1370G probably damaging Het
Abcc9 T A 6: 142,634,707 (GRCm39) N186Y probably damaging Het
Adcy7 T C 8: 89,035,414 (GRCm39) V106A probably benign Het
Adgra3 A G 5: 50,164,226 (GRCm39) F251S probably damaging Het
Akr1c6 T A 13: 4,499,045 (GRCm39) I33N probably damaging Het
Alk A C 17: 72,204,947 (GRCm39) M1075R probably benign Het
Amh A G 10: 80,641,338 (GRCm39) Q86R probably benign Het
Aox1 T C 1: 58,124,611 (GRCm39) Y951H probably damaging Het
Arhgap26 G T 18: 39,232,682 (GRCm39) R119L probably damaging Het
Arl8a A G 1: 135,074,735 (GRCm39) K7R probably benign Het
Birc6 T G 17: 74,937,984 (GRCm39) S2638A probably benign Het
Ccdc162 T G 10: 41,457,349 (GRCm39) Q256H probably damaging Het
Cenpe T A 3: 134,940,888 (GRCm39) L679Q probably damaging Het
Cpa5 T A 6: 30,625,891 (GRCm39) H203Q probably benign Het
Cpne9 A T 6: 113,277,544 (GRCm39) D421V possibly damaging Het
Cux1 A T 5: 136,308,502 (GRCm39) C1212* probably null Het
Dock9 G A 14: 121,864,791 (GRCm39) H736Y probably damaging Het
Dpp3 A T 19: 4,971,195 (GRCm39) V214E probably damaging Het
Dtx3 T C 10: 127,028,746 (GRCm39) E161G probably benign Het
Ect2 A T 3: 27,156,637 (GRCm39) Y774* probably null Het
Enpep G T 3: 129,074,599 (GRCm39) P717H probably damaging Het
Erich3 A T 3: 154,469,314 (GRCm39) probably benign Het
Fbp2 C T 13: 63,005,991 (GRCm39) A41T probably damaging Het
Fbxl21 T C 13: 56,674,874 (GRCm39) V75A probably damaging Het
Fkbp5 C T 17: 28,634,919 (GRCm39) D197N probably benign Het
Fsip2 A G 2: 82,807,298 (GRCm39) T1206A probably benign Het
Ggt7 A G 2: 155,345,380 (GRCm39) V156A probably benign Het
Gpi1 T C 7: 33,901,945 (GRCm39) K156R probably damaging Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Grm7 G A 6: 111,184,766 (GRCm39) E366K probably damaging Het
Haao T C 17: 84,139,103 (GRCm39) Q277R probably damaging Het
Lama1 T C 17: 68,060,753 (GRCm39) S694P Het
Lrp2 C A 2: 69,302,799 (GRCm39) D2977Y probably damaging Het
Map2 T A 1: 66,454,065 (GRCm39) M985K probably benign Het
Met C A 6: 17,535,927 (GRCm39) N784K possibly damaging Het
Met T A 6: 17,535,928 (GRCm39) Y65N probably damaging Het
Muc6 T G 7: 141,226,246 (GRCm39) probably benign Het
Numbl T A 7: 26,980,265 (GRCm39) W416R probably damaging Het
Nup160 G A 2: 90,537,364 (GRCm39) S746N probably benign Het
Pcca G A 14: 122,887,700 (GRCm39) G102D probably damaging Het
Pira13 T A 7: 3,825,163 (GRCm39) Y493F possibly damaging Het
Psmc2 T A 5: 22,006,217 (GRCm39) F243L possibly damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rpn1 G T 6: 88,076,285 (GRCm39) V357L probably benign Het
Rtn3 A G 19: 7,433,856 (GRCm39) F712S possibly damaging Het
Scgb1b10 T A 7: 31,800,574 (GRCm39) D54E probably benign Het
Scn5a A G 9: 119,315,395 (GRCm39) I1771T probably damaging Het
Sec14l1 A G 11: 117,047,220 (GRCm39) I633V probably damaging Het
Slc17a6 T C 7: 51,311,224 (GRCm39) Y313H possibly damaging Het
Slc18a1 G A 8: 69,491,514 (GRCm39) T500I probably benign Het
Slx4 G A 16: 3,813,702 (GRCm39) A93V probably damaging Het
Stat4 T C 1: 52,107,974 (GRCm39) S148P probably benign Het
Tbc1d15 A T 10: 115,045,474 (GRCm39) C497S probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trav3-3 C A 14: 53,903,802 (GRCm39) P40Q possibly damaging Het
Trpv6 A T 6: 41,602,390 (GRCm39) L332Q probably damaging Het
Ube2t T G 1: 134,897,033 (GRCm39) V55G probably damaging Het
Ufm1 T C 3: 53,765,402 (GRCm39) K69E probably damaging Het
Utp20 T C 10: 88,614,102 (GRCm39) D1284G probably benign Het
Vil1 C T 1: 74,463,113 (GRCm39) T432I probably damaging Het
Vps13b T A 15: 35,448,727 (GRCm39) I567K probably benign Het
Zfp236 A T 18: 82,646,488 (GRCm39) V1023D probably damaging Het
Zfp429 A G 13: 67,538,080 (GRCm39) Y455H probably benign 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
R0765:Lrp10 UTSW 14 54,705,547 (GRCm39) missense probably damaging 1.00
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
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'- ATGCTACCTACCATGTCCGG -3'
(R):5'- TAGGAGCAGTCCCACTCATC -3'

Sequencing Primer
(F):5'- ACTGTTTACCTTGGGACAGAC -3'
(R):5'- CACTCATCACTGCCGTCAG -3'
Posted On 2018-11-28