Incidental Mutation 'IGL02415:Llgl2'
ID 292401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Llgl2
Ensembl Gene ENSMUSG00000020782
Gene Name LLGL2 scribble cell polarity complex component
Synonyms 9130006H11Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.725) question?
Stock # IGL02415
Quality Score
Status
Chromosome 11
Chromosomal Location 115824049-115855780 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115853285 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 773 (M773V)
Ref Sequence ENSEMBL: ENSMUSP00000099321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103032] [ENSMUST00000177736]
AlphaFold Q3TJ91
Predicted Effect probably damaging
Transcript: ENSMUST00000103032
AA Change: M773V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: M773V

DomainStartEndE-ValueType
WD40 24 60 9.17e1 SMART
WD40 62 101 7.96e0 SMART
Blast:WD40 112 157 6e-20 BLAST
WD40 181 217 3.96e1 SMART
WD40 221 258 5.7e1 SMART
Pfam:LLGL 268 372 3.2e-47 PFAM
WD40 411 451 1.38e0 SMART
Blast:WD40 489 532 3e-12 BLAST
low complexity region 536 547 N/A INTRINSIC
Blast:WD40 576 615 2e-10 BLAST
low complexity region 649 668 N/A INTRINSIC
Blast:WD40 830 879 2e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000128826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147878
Predicted Effect probably benign
Transcript: ENSMUST00000177736
AA Change: M797V

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: M797V

DomainStartEndE-ValueType
WD40 24 60 5.9e-1 SMART
WD40 62 101 5.2e-2 SMART
Blast:WD40 112 157 6e-20 BLAST
WD40 181 217 2.5e-1 SMART
WD40 221 258 3.6e-1 SMART
Pfam:LLGL 271 372 6.2e-41 PFAM
WD40 411 451 8.8e-3 SMART
Blast:WD40 489 532 3e-12 BLAST
low complexity region 536 547 N/A INTRINSIC
Blast:WD40 576 615 2e-10 BLAST
low complexity region 649 668 N/A INTRINSIC
Blast:WD40 854 903 2e-10 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the protein's ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit abnormal branching morphogenesis of the placental labyrinth layer and are born as runts but catch up in size by adulthood. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 (GRCm38) D124G probably benign Het
Adamts13 T A 2: 26,989,283 (GRCm38) I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 (GRCm38) probably null Het
Amy1 T C 3: 113,563,585 (GRCm38) I202V probably benign Het
Bdp1 G A 13: 100,089,408 (GRCm38) T322I probably damaging Het
Cep295 A G 9: 15,353,020 (GRCm38) L110S probably damaging Het
Cep72 T C 13: 74,050,154 (GRCm38) D369G probably benign Het
Chd3 A T 11: 69,348,913 (GRCm38) probably benign Het
Ckmt2 G A 13: 91,863,340 (GRCm38) probably benign Het
Cyp2s1 T C 7: 25,808,137 (GRCm38) T296A probably damaging Het
E2f5 T A 3: 14,603,897 (GRCm38) V283E probably benign Het
F5 A G 1: 164,191,929 (GRCm38) T658A probably damaging Het
Fam102b A G 3: 108,980,292 (GRCm38) Y219H probably damaging Het
Gml A T 15: 74,816,440 (GRCm38) Y59* probably null Het
Kmo A T 1: 175,649,323 (GRCm38) probably benign Het
Krt25 A T 11: 99,322,572 (GRCm38) I107N probably damaging Het
Lyst G A 13: 13,660,956 (GRCm38) C1741Y probably benign Het
Med12 T C X: 101,281,790 (GRCm38) V761A probably damaging Het
Mrpl19 T C 6: 81,963,961 (GRCm38) T150A probably benign Het
Muc2 G T 7: 141,751,872 (GRCm38) E646* probably null Het
Muc20 T A 16: 32,794,681 (GRCm38) T109S unknown Het
Nr2f6 T C 8: 71,374,512 (GRCm38) T382A probably benign Het
Nrap A G 19: 56,382,309 (GRCm38) I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 (GRCm38) Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 (GRCm38) C127R probably benign Het
P3h1 A T 4: 119,247,955 (GRCm38) Q710L probably benign Het
Parvb A G 15: 84,292,815 (GRCm38) H185R probably damaging Het
Pkhd1 T C 1: 20,522,759 (GRCm38) Y1710C probably damaging Het
Pkhd1 A G 1: 20,414,421 (GRCm38) I1970T probably damaging Het
Plxna2 C A 1: 194,643,964 (GRCm38) R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 (GRCm38) N284S possibly damaging Het
Reln T A 5: 21,971,951 (GRCm38) S1906C possibly damaging Het
Rln1 T C 19: 29,334,398 (GRCm38) R67G probably damaging Het
Shcbp1 C T 8: 4,754,239 (GRCm38) V224I possibly damaging Het
Slc13a4 A G 6: 35,283,237 (GRCm38) probably null Het
Stx6 A G 1: 155,193,313 (GRCm38) E195G possibly damaging Het
Sult2b1 G T 7: 45,742,085 (GRCm38) D90E possibly damaging Het
Taok1 A G 11: 77,540,240 (GRCm38) probably benign Het
Tbx15 A T 3: 99,352,510 (GRCm38) M566L probably benign Het
Tcaf1 C T 6: 42,686,650 (GRCm38) A99T probably benign Het
Tcf20 T A 15: 82,853,459 (GRCm38) M1264L probably benign Het
Tenm4 G A 7: 96,874,074 (GRCm38) V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 (GRCm38) probably benign Het
Ubr1 C A 2: 120,970,603 (GRCm38) probably benign Het
Ulk1 T C 5: 110,787,621 (GRCm38) D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 (GRCm38) I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 (GRCm38) T332I probably damaging Het
Wdr1 C A 5: 38,531,110 (GRCm38) D161Y probably damaging Het
Wnt7a T C 6: 91,394,557 (GRCm38) Y141C probably damaging Het
Xrra1 G A 7: 99,915,943 (GRCm38) E573K probably benign Het
Zfp334 G T 2: 165,381,851 (GRCm38) Q91K possibly damaging Het
Other mutations in Llgl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Llgl2 APN 11 115,834,884 (GRCm38) missense probably benign 0.00
IGL01145:Llgl2 APN 11 115,853,805 (GRCm38) missense probably benign
IGL01344:Llgl2 APN 11 115,851,193 (GRCm38) missense probably benign 0.01
IGL01980:Llgl2 APN 11 115,850,025 (GRCm38) missense probably damaging 1.00
IGL02220:Llgl2 APN 11 115,845,379 (GRCm38) missense possibly damaging 0.64
IGL02341:Llgl2 APN 11 115,851,120 (GRCm38) missense possibly damaging 0.70
IGL02399:Llgl2 APN 11 115,844,835 (GRCm38) missense probably damaging 0.97
IGL02632:Llgl2 APN 11 115,844,872 (GRCm38) missense probably damaging 1.00
IGL02990:Llgl2 APN 11 115,854,333 (GRCm38) missense probably benign 0.01
IGL03405:Llgl2 APN 11 115,850,842 (GRCm38) missense probably benign 0.09
R0097:Llgl2 UTSW 11 115,844,497 (GRCm38) nonsense probably null
R0166:Llgl2 UTSW 11 115,844,854 (GRCm38) missense probably damaging 1.00
R0277:Llgl2 UTSW 11 115,850,720 (GRCm38) missense probably damaging 1.00
R0323:Llgl2 UTSW 11 115,850,720 (GRCm38) missense probably damaging 1.00
R0345:Llgl2 UTSW 11 115,849,992 (GRCm38) splice site probably benign
R0614:Llgl2 UTSW 11 115,850,267 (GRCm38) missense probably damaging 1.00
R0980:Llgl2 UTSW 11 115,850,001 (GRCm38) missense probably damaging 1.00
R1387:Llgl2 UTSW 11 115,853,132 (GRCm38) missense probably damaging 0.99
R1456:Llgl2 UTSW 11 115,845,499 (GRCm38) missense probably benign 0.00
R1541:Llgl2 UTSW 11 115,853,121 (GRCm38) missense probably benign 0.00
R1832:Llgl2 UTSW 11 115,851,100 (GRCm38) missense probably damaging 1.00
R1950:Llgl2 UTSW 11 115,851,066 (GRCm38) missense probably damaging 0.96
R2991:Llgl2 UTSW 11 115,851,120 (GRCm38) missense probably benign 0.05
R4018:Llgl2 UTSW 11 115,847,612 (GRCm38) missense probably benign 0.31
R4582:Llgl2 UTSW 11 115,850,706 (GRCm38) missense possibly damaging 0.89
R4729:Llgl2 UTSW 11 115,848,299 (GRCm38) missense probably damaging 0.98
R4907:Llgl2 UTSW 11 115,853,974 (GRCm38) nonsense probably null
R5000:Llgl2 UTSW 11 115,844,902 (GRCm38) missense probably benign
R5016:Llgl2 UTSW 11 115,853,424 (GRCm38) missense probably damaging 1.00
R5175:Llgl2 UTSW 11 115,850,721 (GRCm38) missense probably damaging 1.00
R5857:Llgl2 UTSW 11 115,850,281 (GRCm38) missense probably damaging 1.00
R6190:Llgl2 UTSW 11 115,846,986 (GRCm38) missense probably benign 0.00
R6451:Llgl2 UTSW 11 115,844,941 (GRCm38) missense probably damaging 0.99
R6804:Llgl2 UTSW 11 115,843,315 (GRCm38) critical splice acceptor site probably null
R6909:Llgl2 UTSW 11 115,850,799 (GRCm38) missense probably damaging 1.00
R7324:Llgl2 UTSW 11 115,850,730 (GRCm38) missense possibly damaging 0.49
R7332:Llgl2 UTSW 11 115,848,299 (GRCm38) missense probably damaging 0.98
R7715:Llgl2 UTSW 11 115,849,728 (GRCm38) missense probably benign
R8038:Llgl2 UTSW 11 115,851,103 (GRCm38) missense probably benign 0.17
R8069:Llgl2 UTSW 11 115,853,286 (GRCm38) missense probably damaging 0.99
R8076:Llgl2 UTSW 11 115,846,929 (GRCm38) missense possibly damaging 0.69
R8109:Llgl2 UTSW 11 115,850,793 (GRCm38) missense possibly damaging 0.52
R8129:Llgl2 UTSW 11 115,850,911 (GRCm38) splice site probably null
R8731:Llgl2 UTSW 11 115,851,190 (GRCm38) missense probably benign 0.01
R8881:Llgl2 UTSW 11 115,853,040 (GRCm38) missense probably benign 0.02
R9286:Llgl2 UTSW 11 115,850,018 (GRCm38) missense probably damaging 0.99
R9365:Llgl2 UTSW 11 115,849,581 (GRCm38) missense probably benign 0.01
R9560:Llgl2 UTSW 11 115,834,856 (GRCm38) missense probably damaging 0.99
R9651:Llgl2 UTSW 11 115,852,115 (GRCm38) critical splice acceptor site probably null
R9729:Llgl2 UTSW 11 115,849,641 (GRCm38) missense probably damaging 1.00
X0058:Llgl2 UTSW 11 115,850,637 (GRCm38) missense probably damaging 0.99
Z1176:Llgl2 UTSW 11 115,849,554 (GRCm38) nonsense probably null
Posted On 2015-04-16