Incidental Mutation 'IGL02232:Lpp'
ID 285764
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 # IGL02232
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,530,764 (GRCm39) V199A possibly damaging Het
Aco1 T C 4: 40,175,996 (GRCm39) M210T probably damaging Het
Actr10 G A 12: 70,990,289 (GRCm39) E114K probably benign Het
Adam6b T C 12: 113,454,764 (GRCm39) M527T probably benign Het
Ahi1 C T 10: 20,857,274 (GRCm39) T623M probably damaging Het
Aldh8a1 T C 10: 21,271,545 (GRCm39) W424R probably damaging Het
Apeh A T 9: 107,969,071 (GRCm39) S299T probably benign Het
Bbs5 A C 2: 69,485,895 (GRCm39) I147L probably benign Het
Bmp2k T G 5: 97,179,109 (GRCm39) probably benign Het
C2cd6 A G 1: 59,101,651 (GRCm39) F336S probably damaging Het
Cd274 T A 19: 29,359,938 (GRCm39) L248M probably damaging Het
Chsy3 T A 18: 59,542,383 (GRCm39) M507K possibly damaging Het
Clip2 T C 5: 134,531,984 (GRCm39) N572S probably damaging Het
Commd9 A G 2: 101,731,324 (GRCm39) T170A probably benign Het
Cpt1c G A 7: 44,609,580 (GRCm39) S674L probably damaging Het
Dhx33 C A 11: 70,878,030 (GRCm39) R671L probably damaging Het
Dnah5 G A 15: 28,299,386 (GRCm39) E1583K probably damaging Het
Eed G T 7: 89,621,493 (GRCm39) N51K probably damaging Het
Efcab14 A G 4: 115,617,261 (GRCm39) probably benign Het
Ephb2 A C 4: 136,384,762 (GRCm39) M884R probably damaging Het
Foxn2 G T 17: 88,770,479 (GRCm39) A109S probably benign Het
Fut1 A T 7: 45,268,871 (GRCm39) D220V probably damaging Het
Gm6468 C T 5: 95,429,066 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,515 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,031 (GRCm39) probably benign Het
Golph3 G T 15: 12,349,578 (GRCm39) M199I probably benign Het
Itpr1 A G 6: 108,394,884 (GRCm39) N1666D probably damaging Het
Itprid1 A G 6: 55,944,922 (GRCm39) T548A unknown Het
Kif12 C T 4: 63,084,732 (GRCm39) E529K probably benign Het
Lrrc52 T A 1: 167,293,949 (GRCm39) N112I probably damaging Het
Msi1 T A 5: 115,579,506 (GRCm39) probably null Het
Nasp T G 4: 116,461,997 (GRCm39) E170A probably damaging Het
Necab2 T A 8: 120,189,391 (GRCm39) V187E probably damaging Het
Obscn T C 11: 58,929,804 (GRCm39) E5790G probably damaging Het
Or7e176 A T 9: 20,171,511 (GRCm39) D125V probably damaging Het
Or9a7 A G 6: 40,520,980 (GRCm39) L311P probably damaging Het
Pard3b C T 1: 62,205,541 (GRCm39) T445I probably damaging Het
Pcdh10 A G 3: 45,335,377 (GRCm39) I564V probably benign Het
Pcdhb22 T A 18: 37,653,602 (GRCm39) L690Q probably damaging Het
Pemt T A 11: 59,867,680 (GRCm39) T115S probably damaging Het
Plcl2 A G 17: 50,913,669 (GRCm39) N226S possibly damaging Het
Ppp6r1 A G 7: 4,636,341 (GRCm39) S750P probably damaging Het
Prtg T C 9: 72,758,771 (GRCm39) V375A probably damaging Het
Psd3 A C 8: 68,356,797 (GRCm39) M673R probably damaging Het
Ptprt T C 2: 161,372,437 (GRCm39) I1392V probably damaging Het
Rlf G A 4: 121,039,811 (GRCm39) T200I probably benign Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Rpe65 A G 3: 159,309,988 (GRCm39) D87G possibly damaging Het
Sema3g T C 14: 30,943,181 (GRCm39) V148A probably damaging Het
Sgms2 G A 3: 131,116,833 (GRCm39) P341S probably benign Het
Skint7 A T 4: 111,839,225 (GRCm39) Q173L possibly damaging Het
Slc2a9 G A 5: 38,594,013 (GRCm39) A150V probably benign Het
Slc35c2 A G 2: 165,124,801 (GRCm39) L58P probably damaging Het
Slc7a6 G A 8: 106,923,206 (GRCm39) C495Y possibly damaging Het
Smurf1 G A 5: 144,823,248 (GRCm39) P458L probably damaging Het
Spag1 C T 15: 36,221,710 (GRCm39) T601I probably benign Het
Spink8 A T 9: 109,649,665 (GRCm39) Q49L possibly damaging Het
Spout1 A T 2: 30,065,266 (GRCm39) Y284N probably damaging Het
Srrm1 A T 4: 135,080,427 (GRCm39) M1K probably null Het
Stxbp5l A G 16: 37,150,257 (GRCm39) L116P probably damaging Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tmem41b A G 7: 109,577,960 (GRCm39) V108A probably damaging Het
Tra2b A G 16: 22,067,790 (GRCm39) probably benign Het
Trio G T 15: 27,902,647 (GRCm39) H271Q probably benign Het
Ttn A G 2: 76,723,263 (GRCm39) probably benign Het
Usp51 A T X: 151,791,669 (GRCm39) H421L probably damaging Het
Vmn2r29 A T 7: 7,244,810 (GRCm39) W355R probably damaging Het
Vpreb1a T C 16: 16,686,603 (GRCm39) N96D possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zp3r C A 1: 130,524,404 (GRCm39) C213F probably damaging 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
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