Incidental Mutation 'R1226:Lsr'
ID 152231
Institutional Source Beutler Lab
Gene Symbol Lsr
Ensembl Gene ENSMUSG00000001247
Gene Name lipolysis stimulated lipoprotein receptor
Synonyms Lisch7, ILDR3
MMRRC Submission 039295-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30657195-30672889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30671308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 142 (I142F)
Ref Sequence ENSEMBL: ENSMUSP00000146120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001279] [ENSMUST00000098553] [ENSMUST00000108116] [ENSMUST00000129773] [ENSMUST00000147431] [ENSMUST00000205961]
AlphaFold Q99KG5
Predicted Effect probably damaging
Transcript: ENSMUST00000001279
AA Change: I142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
AA Change: I142F

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: I142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
AA Change: I142F

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: I142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
AA Change: I142F

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: ENSMUST00000129773
SMART Domains Protein: ENSMUSP00000144533
Gene: ENSMUSG00000046826

DomainStartEndE-ValueType
transmembrane domain 61 80 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 probably damaging
Transcript: ENSMUST00000205961
AA Change: I142F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206754
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TATCTGAGCTAACCCACTCCAGGC -3'
(R):5'- ATAAGTCGTTCTGTCGGGACCGTG -3'

Sequencing Primer
(F):5'- gtgggtagatggatgtgtgg -3'
(R):5'- GTGTTGCCGACGCCTTC -3'
Posted On 2014-01-29