Incidental Mutation 'IGL02182:Lpp'
ID 283278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpp
Ensembl Gene ENSMUSG00000033306
Gene Name LIM domain containing preferred translocation partner in lipoma
Synonyms B130055L10Rik, 9430020K16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # IGL02182
Quality Score
Status
Chromosome 16
Chromosomal Location 24212257-24811328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24580895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 204 (R204W)
Ref Sequence ENSEMBL: ENSMUSP00000110969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038053] [ENSMUST00000078988] [ENSMUST00000115314]
AlphaFold Q8BFW7
Predicted Effect probably damaging
Transcript: ENSMUST00000038053
AA Change: R329W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: R329W

DomainStartEndE-ValueType
low complexity region 41 55 N/A INTRINSIC
low complexity region 61 93 N/A INTRINSIC
coiled coil region 109 134 N/A INTRINSIC
low complexity region 174 197 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
LIM 416 469 1.03e-16 SMART
LIM 476 528 1.94e-12 SMART
LIM 536 597 2.5e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000078988
AA Change: R329W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: R329W

DomainStartEndE-ValueType
low complexity region 41 55 N/A INTRINSIC
low complexity region 61 93 N/A INTRINSIC
coiled coil region 109 134 N/A INTRINSIC
low complexity region 174 197 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
low complexity region 371 386 N/A INTRINSIC
LIM 416 469 1.03e-16 SMART
LIM 476 528 1.94e-12 SMART
LIM 536 597 2.5e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115314
AA Change: R204W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
AA Change: R204W

DomainStartEndE-ValueType
low complexity region 49 72 N/A INTRINSIC
low complexity region 130 142 N/A INTRINSIC
low complexity region 246 261 N/A INTRINSIC
LIM 291 344 1.03e-16 SMART
LIM 351 403 1.94e-12 SMART
LIM 411 472 2.5e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231279
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 member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Gene disruption results in fertility problems involving females but not males. Migration and survival of MEFs are also abnormal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,104,790 (GRCm39) N285I probably benign Het
Adprh T C 16: 38,267,838 (GRCm39) H149R probably benign Het
Ahctf1 A G 1: 179,580,643 (GRCm39) V1853A probably benign Het
Ank1 T C 8: 23,603,868 (GRCm39) V905A possibly damaging Het
Atp10b T G 11: 43,139,774 (GRCm39) L1234R probably damaging Het
Bco1 G A 8: 117,859,805 (GRCm39) A503T probably damaging Het
Clxn T A 16: 14,738,659 (GRCm39) D163E probably damaging Het
Cpz T A 5: 35,675,066 (GRCm39) Y61F probably damaging Het
Dnah8 T A 17: 31,013,737 (GRCm39) M3826K possibly damaging Het
Dtd2 A G 12: 52,046,492 (GRCm39) S116P probably benign Het
Eml5 T C 12: 98,768,581 (GRCm39) D1498G probably damaging Het
Fat4 T C 3: 38,944,695 (GRCm39) V1196A probably damaging Het
Gm15557 T C 2: 155,783,737 (GRCm39) D405G probably damaging Het
Mfsd11 T A 11: 116,764,740 (GRCm39) V388E possibly damaging Het
Ms4a20 A T 19: 11,074,436 (GRCm39) probably benign Het
Or10a3m A G 7: 108,313,075 (GRCm39) T160A probably benign Het
Or52b4 A G 7: 102,184,775 (GRCm39) I274V probably benign Het
Pik3cg A T 12: 32,255,272 (GRCm39) D238E possibly damaging Het
Plcb3 T C 19: 6,946,988 (GRCm39) H9R probably benign Het
Ppp3cc A C 14: 70,462,473 (GRCm39) V388G probably benign Het
Ranbp2 T A 10: 58,321,582 (GRCm39) C2626* probably null Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scarb2 C T 5: 92,601,913 (GRCm39) S327N probably damaging Het
Secisbp2l T A 2: 125,589,497 (GRCm39) I684F probably damaging Het
Slc39a6 T C 18: 24,734,347 (GRCm39) D114G probably damaging Het
Smap1 T A 1: 23,898,180 (GRCm39) E85D probably damaging Het
Tas2r121 T A 6: 132,677,133 (GRCm39) I280F probably damaging Het
Uhrf2 T C 19: 30,016,609 (GRCm39) V86A probably benign Het
Vip A T 10: 5,593,561 (GRCm39) Y91F probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp618 G A 4: 63,013,798 (GRCm39) probably benign Het
Other mutations in Lpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Lpp APN 16 24,663,938 (GRCm39) missense probably damaging 1.00
IGL01354:Lpp APN 16 24,580,816 (GRCm39) nonsense probably null
IGL02141:Lpp APN 16 24,580,365 (GRCm39) missense probably damaging 0.98
IGL02230:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
IGL02232:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
IGL02234:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
IGL02236:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
IGL02371:Lpp APN 16 24,580,361 (GRCm39) missense probably damaging 0.96
IGL03265:Lpp APN 16 24,580,737 (GRCm39) missense probably damaging 1.00
PIT4585001:Lpp UTSW 16 24,580,697 (GRCm39) missense probably benign 0.23
R0047:Lpp UTSW 16 24,480,550 (GRCm39) splice site probably benign
R0047:Lpp UTSW 16 24,480,550 (GRCm39) splice site probably benign
R0092:Lpp UTSW 16 24,580,352 (GRCm39) missense probably benign 0.01
R0385:Lpp UTSW 16 24,580,587 (GRCm39) missense probably damaging 1.00
R0389:Lpp UTSW 16 24,426,991 (GRCm39) missense probably damaging 1.00
R0504:Lpp UTSW 16 24,790,720 (GRCm39) missense probably damaging 1.00
R0798:Lpp UTSW 16 24,790,622 (GRCm39) nonsense probably null
R1199:Lpp UTSW 16 24,500,610 (GRCm39) missense probably damaging 1.00
R1581:Lpp UTSW 16 24,500,591 (GRCm39) nonsense probably null
R1755:Lpp UTSW 16 24,663,874 (GRCm39) missense probably benign
R1848:Lpp UTSW 16 24,580,405 (GRCm39) missense probably damaging 1.00
R1980:Lpp UTSW 16 24,480,451 (GRCm39) missense probably damaging 1.00
R3432:Lpp UTSW 16 24,708,636 (GRCm39) missense probably benign 0.04
R3755:Lpp UTSW 16 24,663,911 (GRCm39) missense probably benign 0.00
R4078:Lpp UTSW 16 24,500,611 (GRCm39) missense probably damaging 1.00
R4214:Lpp UTSW 16 24,580,804 (GRCm39) nonsense probably null
R4712:Lpp UTSW 16 24,580,407 (GRCm39) missense possibly damaging 0.94
R4806:Lpp UTSW 16 24,480,430 (GRCm39) missense probably damaging 0.97
R4968:Lpp UTSW 16 24,798,064 (GRCm39) missense probably damaging 1.00
R5047:Lpp UTSW 16 24,790,596 (GRCm39) missense probably damaging 1.00
R5371:Lpp UTSW 16 24,708,554 (GRCm39) missense probably damaging 1.00
R5536:Lpp UTSW 16 24,663,956 (GRCm39) missense possibly damaging 0.54
R5875:Lpp UTSW 16 24,427,059 (GRCm39) missense probably benign 0.10
R7285:Lpp UTSW 16 24,796,029 (GRCm39) missense probably damaging 1.00
R7587:Lpp UTSW 16 24,581,029 (GRCm39) splice site probably null
R7846:Lpp UTSW 16 24,426,876 (GRCm39) start codon destroyed probably null 0.98
R9065:Lpp UTSW 16 24,580,889 (GRCm39) missense probably benign 0.03
R9378:Lpp UTSW 16 24,540,737 (GRCm39) start codon destroyed probably benign 0.00
R9616:Lpp UTSW 16 24,580,719 (GRCm39) missense probably benign
Z1176:Lpp UTSW 16 24,580,353 (GRCm39) missense probably benign 0.00
Z1177:Lpp UTSW 16 24,480,462 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16