Incidental Mutation 'IGL01951:Lrp10'
ID 181048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrp10
Ensembl Gene ENSMUSG00000022175
Gene Name low-density lipoprotein receptor-related protein 10
Synonyms Lrp9
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01951
Quality Score
Status
Chromosome 14
Chromosomal Location 54701260-54707749 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 54706119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 436 (Y436*)
Ref Sequence ENSEMBL: ENSMUSP00000022782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022782] [ENSMUST00000227760]
AlphaFold Q7TQH7
Predicted Effect probably null
Transcript: ENSMUST00000022782
AA Change: Y436*
SMART Domains Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175
AA Change: Y436*

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
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,092,865 (GRCm39) I152T probably damaging Het
A2m C T 6: 121,644,149 (GRCm39) T949I possibly damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Dgkd T C 1: 87,844,638 (GRCm39) L268P probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lin7a G A 10: 107,247,886 (GRCm39) V186I possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Or6b3 T C 1: 92,438,853 (GRCm39) D299G probably null Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Tpx2 T G 2: 152,726,096 (GRCm39) L354V probably benign Het
Trafd1 G A 5: 121,512,094 (GRCm39) R399C possibly damaging Het
Trem3 C T 17: 48,556,903 (GRCm39) R125W probably damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zbtb6 T C 2: 37,319,343 (GRCm39) E195G probably benign Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G probably damaging Het
Other mutations in Lrp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-05-07