Incidental Mutation 'R6052:Lsr'
ID 484150
Institutional Source Beutler Lab
Gene Symbol Lsr
Ensembl Gene ENSMUSG00000001247
Gene Name lipolysis stimulated lipoprotein receptor
Synonyms Lisch7, ILDR3
MMRRC Submission 044220-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6052 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30657195-30672889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30658042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 355 (M355K)
Ref Sequence ENSEMBL: ENSMUSP00000103751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001279] [ENSMUST00000058860] [ENSMUST00000098553] [ENSMUST00000108116] [ENSMUST00000108119] [ENSMUST00000147431] [ENSMUST00000205961] [ENSMUST00000170699] [ENSMUST00000172417] [ENSMUST00000162228]
AlphaFold Q99KG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000001279
AA Change: M374K

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247
AA Change: M374K

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: ENSMUST00000058860
SMART Domains Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 86 110 N/A INTRINSIC
HLH 241 296 1.36e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000098553
AA Change: M306K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247
AA Change: M306K

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: M355K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247
AA Change: M355K

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: ENSMUST00000108119
SMART Domains Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
HLH 174 229 1.36e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133179
Predicted Effect probably damaging
Transcript: ENSMUST00000147431
AA Change: M159K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123487
Gene: ENSMUSG00000001247
AA Change: M159K

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 possibly damaging
Transcript: ENSMUST00000205961
AA Change: M374K

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169496
Predicted Effect probably benign
Transcript: ENSMUST00000170699
Predicted Effect probably benign
Transcript: ENSMUST00000172417
SMART Domains Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
HLH 110 165 1.36e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162228
SMART Domains Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 11 21 N/A INTRINSIC
low complexity region 86 110 N/A INTRINSIC
HLH 214 269 1.36e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166340
Predicted Effect probably benign
Transcript: ENSMUST00000170442
SMART Domains Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239

DomainStartEndE-ValueType
low complexity region 41 65 N/A INTRINSIC
HLH 196 243 1.83e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206345
Meta Mutation Damage Score 0.1355 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 96% (80/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,537,165 (GRCm39) F473L probably benign Het
Ankrd17 T C 5: 90,401,691 (GRCm39) I1449V probably benign Het
Aox4 T A 1: 58,293,477 (GRCm39) L943* probably null Het
Arap1 G A 7: 101,053,240 (GRCm39) V1257M probably damaging Het
B3gnt9 T C 8: 105,981,230 (GRCm39) S53G probably benign Het
Baiap3 A T 17: 25,467,444 (GRCm39) probably benign Het
Canx T C 11: 50,187,946 (GRCm39) D554G possibly damaging Het
Cbfa2t2 T C 2: 154,352,501 (GRCm39) V165A probably damaging Het
Ccdc17 C T 4: 116,457,145 (GRCm39) probably null Het
Cdcp1 A G 9: 123,014,396 (GRCm39) I126T probably benign Het
Cdk13 A T 13: 17,895,800 (GRCm39) D1036E probably damaging Het
Cfap157 A G 2: 32,669,863 (GRCm39) L240P probably damaging Het
Clec18a C A 8: 111,805,448 (GRCm39) E218* probably null Het
Col3a1 T C 1: 45,384,173 (GRCm39) probably benign Het
Dennd4a A G 9: 64,794,227 (GRCm39) E682G probably damaging Het
Dnah14 T C 1: 181,494,052 (GRCm39) V1736A possibly damaging Het
Dpep2 T A 8: 106,717,270 (GRCm39) D162V possibly damaging Het
Drd3 C A 16: 43,641,646 (GRCm39) P321T probably benign Het
Egfr A G 11: 16,861,554 (GRCm39) H1111R probably benign Het
Entpd1 T C 19: 40,708,928 (GRCm39) S58P probably damaging Het
Epha3 C A 16: 63,423,967 (GRCm39) V541L possibly damaging Het
Eri3 T A 4: 117,421,825 (GRCm39) D34E probably damaging Het
Eya1 T C 1: 14,353,374 (GRCm39) D58G probably damaging Het
Fat3 T A 9: 15,833,975 (GRCm39) S26C probably null Het
Fgl1 T C 8: 41,653,548 (GRCm39) D115G probably damaging Het
Fitm2 T C 2: 163,312,036 (GRCm39) Y59C probably damaging Het
Fras1 T A 5: 96,912,725 (GRCm39) I3343N probably damaging Het
Gba2 C A 4: 43,568,330 (GRCm39) C679F probably damaging Het
Glis2 G A 16: 4,431,603 (GRCm39) probably benign Het
Gm5150 T A 3: 16,044,917 (GRCm39) I103F probably damaging Het
Hhipl2 T C 1: 183,204,965 (GRCm39) S313P possibly damaging Het
Hmgcs1 A G 13: 120,166,995 (GRCm39) D474G probably benign Het
Homer3 C T 8: 70,744,076 (GRCm39) Q267* probably null Het
Hsd17b8 A G 17: 34,246,429 (GRCm39) L118P probably damaging Het
Igkv8-28 C T 6: 70,120,673 (GRCm39) G90D probably damaging Het
Kalrn T A 16: 34,181,255 (GRCm39) I128F probably damaging Het
Krt4 A G 15: 101,831,194 (GRCm39) probably null Het
Lamb2 T A 9: 108,364,811 (GRCm39) C1188* probably null Het
Map3k11 T G 19: 5,747,430 (GRCm39) D555E probably benign Het
Myocd A G 11: 65,087,082 (GRCm39) Y282H probably damaging Het
Nae1 T C 8: 105,261,176 (GRCm39) I7M probably benign Het
Nprl3 G T 11: 32,205,453 (GRCm39) H102N possibly damaging Het
Nup62 T A 7: 44,478,464 (GRCm39) F160I possibly damaging Het
Or10w1 C A 19: 13,631,871 (GRCm39) P26Q possibly damaging Het
Or2d3c A T 7: 106,525,896 (GRCm39) F257I probably benign Het
Or2r2 T A 6: 42,463,588 (GRCm39) T180S possibly damaging Het
Or5p76 A G 7: 108,122,945 (GRCm39) S71P probably benign Het
Or6c35 C A 10: 129,169,071 (GRCm39) T107K possibly damaging Het
Osbpl10 T C 9: 114,896,383 (GRCm39) probably null Het
Pcdh9 C T 14: 94,123,282 (GRCm39) V963I probably benign Het
Phf12 A G 11: 77,909,044 (GRCm39) R375G probably benign Het
Piezo1 G A 8: 123,233,008 (GRCm39) T108M probably damaging Het
Plxnc1 T A 10: 94,779,635 (GRCm39) Q269L probably benign Het
Pomgnt1 T A 4: 116,008,799 (GRCm39) N11K possibly damaging Het
Pramel22 T A 4: 143,382,222 (GRCm39) D158V probably damaging Het
Prkd1 A T 12: 50,413,083 (GRCm39) probably null Het
Prpf40a T C 2: 53,049,293 (GRCm39) T190A probably benign Het
Prrc2b A C 2: 32,102,297 (GRCm39) H790P possibly damaging Het
Rest T G 5: 77,429,027 (GRCm39) V482G probably benign Het
Ros1 T A 10: 52,039,999 (GRCm39) I322L probably benign Het
Rpl18 G A 7: 45,369,554 (GRCm39) probably benign Het
Rsad2 G A 12: 26,500,577 (GRCm39) H237Y probably benign Het
Sbf2 A G 7: 110,040,741 (GRCm39) L362S probably damaging Het
Sgsm3 A G 15: 80,893,464 (GRCm39) T409A probably benign Het
Slc16a14 T C 1: 84,890,430 (GRCm39) T292A possibly damaging Het
Spg11 T G 2: 121,927,837 (GRCm39) K649T probably damaging Het
Srprb T A 9: 103,067,415 (GRCm39) I268F possibly damaging Het
Tap2 G A 17: 34,433,683 (GRCm39) G566S probably damaging Het
Tecpr2 T C 12: 110,885,325 (GRCm39) V168A possibly damaging Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Tmem181a T A 17: 6,330,890 (GRCm39) L50H probably damaging Het
Tshz1 A G 18: 84,032,194 (GRCm39) I738T probably damaging Het
Tspan12 T C 6: 21,772,637 (GRCm39) E304G probably benign Het
Urb1 C T 16: 90,559,271 (GRCm39) G1671S probably damaging Het
Vmn2r2 T C 3: 64,024,782 (GRCm39) S600G possibly damaging Het
Wnt3 C A 11: 103,699,000 (GRCm39) Y35* probably null Het
Xpo7 T C 14: 70,921,159 (GRCm39) Y603C possibly damaging Het
Zfp457 G A 13: 67,442,015 (GRCm39) H91Y probably damaging Het
Zfp664 T A 5: 124,963,250 (GRCm39) C215S unknown Het
Zfp882 G A 8: 72,668,349 (GRCm39) G392D 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
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
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'- GTCATCTAGAGCATCCACAGAGC -3'
(R):5'- GAAGGAGCTAGCCAACTTCG -3'

Sequencing Primer
(F):5'- CATCCACAGAGCGGGCC -3'
(R):5'- GAGCTAGCCAACTTCGATCCTTC -3'
Posted On 2017-07-14