Incidental Mutation 'IGL01893:Lsr'
ID 179315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lsr
Ensembl Gene ENSMUSG00000001247
Gene Name lipolysis stimulated lipoprotein receptor
Synonyms Lisch7, ILDR3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01893
Quality Score
Status
Chromosome 7
Chromosomal Location 30657195-30672889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30661657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 210 (V210E)
Ref Sequence ENSEMBL: ENSMUSP00000146120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001279] [ENSMUST00000098553] [ENSMUST00000108116] [ENSMUST00000147431] [ENSMUST00000205961]
AlphaFold Q99KG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000001279
AA Change: V210E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
AA Change: V210E

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
IG 43 186 1.23e-3 SMART
Pfam:LSR 206 253 9.6e-27 PFAM
low complexity region 280 296 N/A INTRINSIC
low complexity region 445 464 N/A INTRINSIC
low complexity region 468 487 N/A INTRINSIC
low complexity region 496 513 N/A INTRINSIC
low complexity region 544 558 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098553
SMART Domains Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
IG 43 186 1.23e-3 SMART
low complexity region 212 228 N/A INTRINSIC
low complexity region 377 396 N/A INTRINSIC
low complexity region 400 419 N/A INTRINSIC
low complexity region 428 445 N/A INTRINSIC
low complexity region 476 490 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108116
AA Change: V191E

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
AA Change: V191E

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
IG 43 186 1.23e-3 SMART
Pfam:LSR 187 235 2.3e-25 PFAM
low complexity region 261 277 N/A INTRINSIC
low complexity region 426 445 N/A INTRINSIC
low complexity region 449 468 N/A INTRINSIC
low complexity region 477 494 N/A INTRINSIC
low complexity region 525 539 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133179
Predicted Effect probably benign
Transcript: ENSMUST00000147431
SMART Domains Protein: ENSMUSP00000123487
Gene: ENSMUSG00000001247

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 65 81 N/A INTRINSIC
low complexity region 230 249 N/A INTRINSIC
low complexity region 253 272 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181395
Predicted Effect possibly damaging
Transcript: ENSMUST00000205961
AA Change: V210E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206345
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display embryonic lethality during fetal growth and development, liver hypoplasia, and variable penetrance of pallor, hemorrhaging, superficial skin detachment, and reduced size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,582,198 (GRCm39) I275F probably damaging Het
Avil G A 10: 126,856,415 (GRCm39) E815K possibly damaging Het
Car9 T A 4: 43,510,252 (GRCm39) I278N probably damaging Het
Cast T A 13: 74,875,408 (GRCm39) K480* probably null Het
Cenpj A G 14: 56,790,931 (GRCm39) F373L probably damaging Het
Cspp1 T C 1: 10,204,366 (GRCm39) probably null Het
Diaph3 G A 14: 87,156,288 (GRCm39) T675I possibly damaging Het
Dip2b A T 15: 100,069,101 (GRCm39) probably benign Het
Dnah1 T C 14: 30,988,427 (GRCm39) D3425G probably damaging Het
Dolk A G 2: 30,175,926 (GRCm39) Y40H probably benign Het
Drosha T C 15: 12,866,736 (GRCm39) probably benign Het
Dusp15 A G 2: 152,790,956 (GRCm39) probably null Het
Edrf1 T C 7: 133,258,831 (GRCm39) F770L probably benign Het
Gabra1 T C 11: 42,024,586 (GRCm39) K363R possibly damaging Het
Glipr1l1 A C 10: 111,912,074 (GRCm39) T203P probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-Q10 T C 17: 35,784,168 (GRCm39) S270P probably damaging Het
Hipk2 A T 6: 38,795,330 (GRCm39) M313K probably benign Het
Htt T A 5: 35,034,174 (GRCm39) I1920N probably damaging Het
Mbtd1 A T 11: 93,812,238 (GRCm39) I181L probably null Het
Mettl16 A T 11: 74,696,097 (GRCm39) T273S possibly damaging Het
Mlst8 T C 17: 24,696,961 (GRCm39) N74D probably benign Het
Nek9 A G 12: 85,383,174 (GRCm39) I102T probably damaging Het
Nme7 C T 1: 164,172,850 (GRCm39) A187V probably damaging Het
Nphp1 A T 2: 127,611,564 (GRCm39) W261R probably damaging Het
Or12e13 G T 2: 87,664,207 (GRCm39) G275* probably null Het
Or2h2 A G 17: 37,396,760 (GRCm39) L99P probably damaging Het
Or4f14 A T 2: 111,742,589 (GRCm39) S229T possibly damaging Het
Orc6 A G 8: 86,034,272 (GRCm39) D165G probably damaging Het
Ovca2 A G 11: 75,069,133 (GRCm39) S89P probably benign Het
Pcdhb12 T G 18: 37,570,263 (GRCm39) S470A probably benign Het
Phactr2 T C 10: 13,122,932 (GRCm39) T397A probably benign Het
Pms2 T C 5: 143,860,337 (GRCm39) L50P probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Serpinb11 C A 1: 107,305,387 (GRCm39) S254R probably benign Het
Serpinb11 C A 1: 107,305,388 (GRCm39) Q255K probably benign Het
Skap2 T C 6: 51,851,556 (GRCm39) T79A probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Tbx19 A T 1: 164,967,767 (GRCm39) S327T possibly damaging Het
Themis3 A G 17: 66,866,622 (GRCm39) L206P possibly damaging Het
Tmem132c T A 5: 127,540,093 (GRCm39) L373Q possibly damaging Het
Unc13c G T 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r106 A T 17: 20,497,730 (GRCm39) M503K probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r33 A G 7: 7,566,776 (GRCm39) I112T probably benign Het
Vps13a A C 19: 16,641,139 (GRCm39) W2328G probably damaging Het
Other mutations in Lsr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Lsr APN 7 30,671,421 (GRCm39) missense probably damaging 1.00
IGL02557:Lsr APN 7 30,657,919 (GRCm39) missense possibly damaging 0.90
IGL02800:Lsr APN 7 30,657,838 (GRCm39) missense probably damaging 1.00
IGL03030:Lsr APN 7 30,658,706 (GRCm39) missense possibly damaging 0.50
IGL03166:Lsr APN 7 30,661,522 (GRCm39) critical splice donor site probably null
R0349:Lsr UTSW 7 30,658,698 (GRCm39) missense probably damaging 1.00
R0513:Lsr UTSW 7 30,657,763 (GRCm39) missense probably benign 0.01
R1226:Lsr UTSW 7 30,671,308 (GRCm39) missense probably damaging 1.00
R1539:Lsr UTSW 7 30,671,517 (GRCm39) missense possibly damaging 0.78
R2281:Lsr UTSW 7 30,657,770 (GRCm39) missense probably damaging 1.00
R4208:Lsr UTSW 7 30,672,519 (GRCm39) missense probably benign 0.00
R4422:Lsr UTSW 7 30,665,422 (GRCm39) missense probably benign 0.08
R4544:Lsr UTSW 7 30,671,401 (GRCm39) missense probably damaging 1.00
R4727:Lsr UTSW 7 30,665,465 (GRCm39) missense probably damaging 1.00
R4791:Lsr UTSW 7 30,657,977 (GRCm39) missense probably damaging 0.99
R4946:Lsr UTSW 7 30,657,634 (GRCm39) missense probably benign 0.17
R5157:Lsr UTSW 7 30,665,465 (GRCm39) missense probably damaging 1.00
R5652:Lsr UTSW 7 30,658,456 (GRCm39) missense probably damaging 1.00
R6052:Lsr UTSW 7 30,658,042 (GRCm39) missense probably damaging 1.00
R6314:Lsr UTSW 7 30,658,024 (GRCm39) missense probably damaging 1.00
R6566:Lsr UTSW 7 30,671,508 (GRCm39) missense possibly damaging 0.92
R6917:Lsr UTSW 7 30,657,721 (GRCm39) missense possibly damaging 0.94
R7842:Lsr UTSW 7 30,665,437 (GRCm39) missense possibly damaging 0.82
R7941:Lsr UTSW 7 30,672,520 (GRCm39) missense probably benign
R9255:Lsr UTSW 7 30,657,670 (GRCm39) missense probably benign 0.01
R9641:Lsr UTSW 7 30,658,285 (GRCm39) missense probably damaging 1.00
R9742:Lsr UTSW 7 30,657,492 (GRCm39) small deletion probably benign
X0050:Lsr UTSW 7 30,671,602 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07