Incidental Mutation 'R5047:Lpp'
ID 394430
Institutional Source Beutler Lab
Gene Symbol Lpp
Ensembl Gene ENSMUSG00000033306
Gene Name LIM domain containing preferred translocation partner in lipoma
Synonyms B130055L10Rik, 9430020K16Rik
MMRRC Submission 042637-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.179) question?
Stock # R5047 (G1)
Quality Score 213
Status Validated
Chromosome 16
Chromosomal Location 24212257-24811328 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24790596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 352 (C352R)
Ref Sequence ENSEMBL: ENSMUSP00000110969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038053] [ENSMUST00000078988] [ENSMUST00000115314] [ENSMUST00000232546]
AlphaFold Q8BFW7
Predicted Effect probably damaging
Transcript: ENSMUST00000038053
AA Change: C477R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036304
Gene: ENSMUSG00000033306
AA Change: C477R

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: C477R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078005
Gene: ENSMUSG00000033306
AA Change: C477R

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: C352R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110969
Gene: ENSMUSG00000033306
AA Change: C352R

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 unknown
Transcript: ENSMUST00000232546
AA Change: V20A
Meta Mutation Damage Score 0.9576 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.5%
Validation Efficiency 96% (49/51)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik A T 14: 44,406,698 (GRCm39) M117K possibly damaging Het
Adamts13 G A 2: 26,886,922 (GRCm39) A1020T probably damaging Het
Armh4 G T 14: 50,007,895 (GRCm39) A526D probably damaging Het
Atg3 C A 16: 44,998,595 (GRCm39) D132E probably benign Het
Blzf1 A G 1: 164,134,037 (GRCm39) M4T possibly damaging Het
Cdon G A 9: 35,389,935 (GRCm39) R863Q probably damaging Het
Cyp2d40 C T 15: 82,644,460 (GRCm39) R255H unknown Het
Evi5 T C 5: 107,969,740 (GRCm39) K57R probably damaging Het
Fam186b T C 15: 99,178,567 (GRCm39) E253G probably damaging Het
Fcgr1 A T 3: 96,193,200 (GRCm39) F266I probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Gm10142 G T 10: 77,551,996 (GRCm39) C119F probably damaging Het
Gpr63 A G 4: 25,008,202 (GRCm39) S309G probably benign Het
Herc3 C T 6: 58,832,745 (GRCm39) Q137* probably null Het
Jmy T A 13: 93,578,080 (GRCm39) H696L possibly damaging Het
Kif13a T C 13: 46,941,561 (GRCm39) H972R probably benign Het
Lama1 C T 17: 68,050,276 (GRCm39) Q296* probably null Het
Lmf1 C T 17: 25,850,812 (GRCm39) probably benign Het
Ltbp1 T C 17: 75,599,881 (GRCm39) probably benign Het
Maml3 G T 3: 51,598,262 (GRCm39) D807E possibly damaging Het
Mdc1 T A 17: 36,158,736 (GRCm39) V372D probably benign Het
Mst1 C A 9: 107,961,508 (GRCm39) H579Q probably benign Het
Or11g24 T C 14: 50,662,696 (GRCm39) F240S probably damaging Het
Or1r1 T C 11: 73,875,204 (GRCm39) T77A probably damaging Het
Or4a39 A G 2: 89,237,057 (GRCm39) V122A probably damaging Het
Or8d1 G A 9: 38,766,585 (GRCm39) V76I probably benign Het
Pcdhb22 G T 18: 37,652,179 (GRCm39) G216C probably damaging Het
Phlpp2 A T 8: 110,640,251 (GRCm39) H472L probably benign Het
Plscr3 A G 11: 69,740,917 (GRCm39) probably null Het
Rab7 A T 6: 87,982,205 (GRCm39) probably null Het
Rad50 A G 11: 53,565,523 (GRCm39) probably null Het
Scgb1b20 A G 7: 33,072,737 (GRCm39) probably null Het
Scn9a A C 2: 66,392,824 (GRCm39) L256R probably damaging Het
Spag1 G T 15: 36,195,588 (GRCm39) Q260H probably damaging Het
Tatdn3 T A 1: 190,778,475 (GRCm39) I239F probably damaging Het
Tcof1 A G 18: 60,964,986 (GRCm39) S578P possibly damaging Het
Top3b A G 16: 16,709,282 (GRCm39) T657A probably benign Het
Tstd3 A G 4: 21,759,621 (GRCm39) probably null Het
Ttc4 A T 4: 106,525,435 (GRCm39) L233H probably damaging Het
Vmn2r130 T A 17: 23,282,794 (GRCm39) M158K probably benign Het
Yeats2 A T 16: 20,027,215 (GRCm39) Q822L probably damaging Het
Zfp976 A T 7: 42,262,843 (GRCm39) C331* probably null 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
IGL02182:Lpp APN 16 24,580,895 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CCTAAGACATGGGTTTGCTGC -3'
(R):5'- ATCCATGCGCCAGAGATCAC -3'

Sequencing Primer
(F):5'- CCTGGGGCCTGGGTGATC -3'
(R):5'- GAGATCACTCTTGGAACATCTCC -3'
Posted On 2016-06-15