Incidental Mutation 'R5157:Lsr'
ID 396778
Institutional Source Beutler Lab
Gene Symbol Lsr
Ensembl Gene ENSMUSG00000001247
Gene Name lipolysis stimulated lipoprotein receptor
Synonyms Lisch7, ILDR3
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5157 (G1)
Quality Score 219
Status Validated
Chromosome 7
Chromosomal Location 30657195-30672889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30665465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 163 (Y163C)
Ref Sequence ENSEMBL: ENSMUSP00000146120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001279] [ENSMUST00000098553] [ENSMUST00000108116] [ENSMUST00000147431] [ENSMUST00000205961]
AlphaFold Q99KG5
Predicted Effect probably damaging
Transcript: ENSMUST00000001279
AA Change: Y163C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
AA Change: Y163C

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 damaging
Transcript: ENSMUST00000098553
AA Change: Y163C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
AA Change: Y163C

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 damaging
Transcript: ENSMUST00000108116
AA Change: Y163C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
AA Change: Y163C

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 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 probably damaging
Transcript: ENSMUST00000205961
AA Change: Y163C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.9664 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,096 (GRCm39) R1266C probably damaging Het
Adap2 T C 11: 80,047,772 (GRCm39) F76S probably damaging Het
Adgb T A 10: 10,274,710 (GRCm39) H747L probably damaging Het
Aox1 T A 1: 58,109,222 (GRCm39) V670D probably damaging Het
Ap4e1 A G 2: 126,903,615 (GRCm39) D839G probably benign Het
Arhgef11 T A 3: 87,635,817 (GRCm39) probably null Het
AY074887 T C 9: 54,858,102 (GRCm39) probably benign Het
Bicd1 C G 6: 149,421,912 (GRCm39) Q878E probably benign Het
Catspere1 A T 1: 177,707,348 (GRCm39) noncoding transcript Het
Cnmd T C 14: 79,894,126 (GRCm39) Q87R probably benign Het
Col24a1 G T 3: 145,051,712 (GRCm39) G661* probably null Het
Crtap G A 9: 114,213,860 (GRCm39) L232F probably damaging Het
Ctsq T C 13: 61,184,913 (GRCm39) T258A probably benign Het
Cyp2d26 T C 15: 82,675,190 (GRCm39) Q388R probably benign Het
Ddb1 A T 19: 10,599,728 (GRCm39) T646S probably benign Het
Dnah6 G T 6: 73,172,617 (GRCm39) S280R probably benign Het
Dzank1 T C 2: 144,325,332 (GRCm39) H545R probably damaging Het
Ehhadh T A 16: 21,585,261 (GRCm39) M207L probably benign Het
Elmo2 T A 2: 165,133,627 (GRCm39) probably benign Het
Golga3 G A 5: 110,350,537 (GRCm39) A731T probably benign Het
Igsf21 T C 4: 139,755,378 (GRCm39) T426A possibly damaging Het
Kcnf1 T C 12: 17,224,742 (GRCm39) E493G probably benign Het
Lmna A T 3: 88,391,414 (GRCm39) D364E probably damaging Het
Map3k20 A T 2: 72,268,558 (GRCm39) T522S probably benign Het
Mroh9 C A 1: 162,871,690 (GRCm39) A598S probably damaging Het
Msln T C 17: 25,971,957 (GRCm39) M87V probably benign Het
Or14c39 A G 7: 86,344,440 (GRCm39) K259E probably benign Het
Or1e26 T C 11: 73,480,549 (GRCm39) N5S probably damaging Het
Or4a27 T A 2: 88,559,892 (GRCm39) Q17L probably benign Het
Or5d16 T A 2: 87,773,232 (GRCm39) M247L probably benign Het
Pals1 T A 12: 78,867,589 (GRCm39) M324K possibly damaging Het
Plekhg5 T A 4: 152,192,322 (GRCm39) probably benign Het
Pprc1 G T 19: 46,053,197 (GRCm39) probably benign Het
Ptprm T A 17: 67,264,092 (GRCm39) K385I probably benign Het
Rfxap T A 3: 54,711,938 (GRCm39) N215I probably damaging Het
Slc16a7 A T 10: 125,069,333 (GRCm39) Y114* probably null Het
Smarcb1 G T 10: 75,747,628 (GRCm39) probably benign Het
Spef2 T A 15: 9,668,877 (GRCm39) R770* probably null Het
Stard9 A T 2: 120,528,342 (GRCm39) Y1533F probably benign Het
Tbcd A T 11: 121,500,853 (GRCm39) Y1142F probably benign Het
Trappc2b A T 11: 51,576,893 (GRCm39) S2T probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Uba7 G A 9: 107,857,246 (GRCm39) V703I probably benign Het
Upb1 T C 10: 75,248,638 (GRCm39) S53P possibly damaging Het
Zfp672 A G 11: 58,207,677 (GRCm39) S215P possibly damaging Het
Zfp978 T A 4: 147,475,437 (GRCm39) L328H probably damaging Het
Other mutations in Lsr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Lsr APN 7 30,671,421 (GRCm39) missense probably damaging 1.00
IGL01893:Lsr APN 7 30,661,657 (GRCm39) missense possibly damaging 0.90
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
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
Predicted Primers PCR Primer
(F):5'- CATGGAGAAGCCCAAGTGAC -3'
(R):5'- CTGGATGAATGGTTTCACTTTAGC -3'

Sequencing Primer
(F):5'- AGCCCAAGTGACTGGCAGTG -3'
(R):5'- GTAGGTACTTGTCTGAAATCCCAGC -3'
Posted On 2016-06-21