Incidental Mutation 'IGL02236:Lpp'
ID285881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpp
Ensembl Gene ENSMUSG00000033306
Gene NameLIM domain containing preferred translocation partner in lipoma
SynonymsB130055L10Rik, 9430020K16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL02236
Quality Score
Status
Chromosome16
Chromosomal Location24393507-24992578 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 24762145 bp
ZygosityHeterozygous
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]
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,217,284 L529P probably damaging Het
Bdp1 A T 13: 100,060,891 D995E probably benign Het
Cd22 T C 7: 30,867,468 N607S possibly damaging Het
Ddx10 T A 9: 53,235,382 D180V probably damaging Het
Dennd4c T C 4: 86,807,435 Y709H possibly damaging Het
Dhrs3 A C 4: 144,893,563 I17L probably benign Het
Dnah8 A T 17: 30,649,773 K394* probably null Het
Flnc T A 6: 29,454,376 I1896N probably damaging Het
Glipr1l2 A G 10: 112,092,629 Y143C probably damaging Het
Lmo7 T C 14: 101,926,088 probably benign Het
Mast3 A G 8: 70,789,244 S98P probably benign Het
Myf5 A G 10: 107,484,190 S200P possibly damaging Het
Olfr582 T G 7: 103,041,721 S76A possibly damaging Het
Pramef8 G A 4: 143,416,942 V93I probably benign Het
Recql5 A C 11: 115,894,030 S824A probably benign Het
Reg2 A G 6: 78,406,205 E45G probably damaging Het
Rergl T C 6: 139,494,920 D77G probably benign Het
Rnf224 T C 2: 25,236,248 D31G probably damaging Het
Sema4c C T 1: 36,553,085 S227N probably damaging Het
Sgsm2 C T 11: 74,859,872 G439D probably damaging Het
Smap2 T A 4: 120,975,390 M185L probably benign Het
Spty2d1 A G 7: 46,997,612 V523A probably benign Het
Stk17b C A 1: 53,764,088 R184L probably damaging Het
Syt13 A G 2: 92,940,865 D99G probably damaging Het
Trav14-1 T A 14: 53,554,306 S38T possibly damaging Het
Ttn T C 2: 76,870,468 probably benign Het
Usp17la G A 7: 104,861,146 W319* probably null Het
Vmn2r73 T C 7: 85,872,694 T146A probably benign Het
Vwa3b C T 1: 37,154,051 probably benign Het
Zfp13 A T 17: 23,580,765 probably benign Het
Zscan18 A C 7: 12,769,324 D769E probably benign Het
Other mutations in Lpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00588:Lpp APN 16 24845188 missense probably damaging 1.00
IGL01354:Lpp APN 16 24762066 nonsense probably null
IGL02141:Lpp APN 16 24761615 missense probably damaging 0.98
IGL02182:Lpp APN 16 24762145 missense probably damaging 0.99
IGL02230:Lpp APN 16 24762145 missense probably damaging 0.99
IGL02232:Lpp APN 16 24762145 missense probably damaging 0.99
IGL02234:Lpp APN 16 24762145 missense probably damaging 0.99
IGL02371:Lpp APN 16 24761611 missense probably damaging 0.96
IGL03265:Lpp APN 16 24761987 missense probably damaging 1.00
PIT4585001:Lpp UTSW 16 24761947 missense probably benign 0.23
R0047:Lpp UTSW 16 24661800 splice site probably benign
R0047:Lpp UTSW 16 24661800 splice site probably benign
R0092:Lpp UTSW 16 24761602 missense probably benign 0.01
R0385:Lpp UTSW 16 24761837 missense probably damaging 1.00
R0389:Lpp UTSW 16 24608241 missense probably damaging 1.00
R0504:Lpp UTSW 16 24971970 missense probably damaging 1.00
R0798:Lpp UTSW 16 24971872 nonsense probably null
R1199:Lpp UTSW 16 24681860 missense probably damaging 1.00
R1581:Lpp UTSW 16 24681841 nonsense probably null
R1755:Lpp UTSW 16 24845124 missense probably benign
R1848:Lpp UTSW 16 24761655 missense probably damaging 1.00
R1980:Lpp UTSW 16 24661701 missense probably damaging 1.00
R3432:Lpp UTSW 16 24889886 missense probably benign 0.04
R3755:Lpp UTSW 16 24845161 missense probably benign 0.00
R4078:Lpp UTSW 16 24681861 missense probably damaging 1.00
R4214:Lpp UTSW 16 24762054 nonsense probably null
R4712:Lpp UTSW 16 24761657 missense possibly damaging 0.94
R4806:Lpp UTSW 16 24661680 missense probably damaging 0.97
R4968:Lpp UTSW 16 24979314 missense probably damaging 1.00
R5047:Lpp UTSW 16 24971846 missense probably damaging 1.00
R5371:Lpp UTSW 16 24889804 missense probably damaging 1.00
R5536:Lpp UTSW 16 24845206 missense possibly damaging 0.54
R5875:Lpp UTSW 16 24608309 missense probably benign 0.10
R7285:Lpp UTSW 16 24977279 missense probably damaging 1.00
Posted On2015-04-16