Incidental Mutation 'IGL00595:Llgl2'
ID 11774
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: 0.676) question?
Stock # IGL00595
Quality Score
Status
Chromosome 11
Chromosomal Location 115714875-115746606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115725710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 19 (D19E)
Ref Sequence ENSEMBL: ENSMUSP00000136054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103032] [ENSMUST00000133250] [ENSMUST00000137900] [ENSMUST00000155878] [ENSMUST00000172552] [ENSMUST00000173289] [ENSMUST00000177736]
AlphaFold Q3TJ91
Predicted Effect probably benign
Transcript: ENSMUST00000103032
AA Change: D19E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: D19E

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: ENSMUST00000133250
AA Change: D19E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118344
Gene: ENSMUSG00000020782
AA Change: D19E

DomainStartEndE-ValueType
Blast:WD40 13 60 2e-20 BLAST
SCOP:d1gxra_ 19 118 5e-8 SMART
Blast:WD40 62 101 4e-22 BLAST
Blast:WD40 112 146 1e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000137900
AA Change: D19E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119675
Gene: ENSMUSG00000020782
AA Change: D19E

DomainStartEndE-ValueType
Blast:WD40 13 60 3e-20 BLAST
SCOP:d1gxra_ 19 158 7e-9 SMART
Blast:WD40 62 101 6e-22 BLAST
Blast:WD40 112 157 2e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000155878
AA Change: D19E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117649
Gene: ENSMUSG00000020782
AA Change: D19E

DomainStartEndE-ValueType
Blast:WD40 13 60 1e-20 BLAST
SCOP:d1gxra_ 19 118 3e-8 SMART
Blast:WD40 62 101 3e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172552
AA Change: D19E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133803
Gene: ENSMUSG00000020782
AA Change: D19E

DomainStartEndE-ValueType
Blast:WD40 13 60 4e-21 BLAST
SCOP:d1gxra_ 19 101 1e-7 SMART
Blast:WD40 62 101 2e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173289
AA Change: D19E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133790
Gene: ENSMUSG00000020782
AA Change: D19E

DomainStartEndE-ValueType
Blast:WD40 13 60 2e-20 BLAST
SCOP:d1gxra_ 19 118 5e-8 SMART
Blast:WD40 62 101 4e-22 BLAST
Blast:WD40 112 148 4e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177736
AA Change: D19E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: D19E

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G A 10: 28,849,954 (GRCm39) R161* probably null Het
Adam20 T A 8: 41,249,084 (GRCm39) F398Y probably benign Het
Ano1 T A 7: 144,192,250 (GRCm39) I374F probably damaging Het
Apol10a A T 15: 77,369,135 (GRCm39) N45Y probably null Het
Asnsd1 A G 1: 53,386,647 (GRCm39) S327P probably damaging Het
Ccdc83 T A 7: 89,893,252 (GRCm39) K168N probably damaging Het
Chmp1b2 A G X: 106,831,450 (GRCm39) S189P probably damaging Het
Dpysl4 G T 7: 138,676,092 (GRCm39) V274F probably damaging Het
Fxr2 T G 11: 69,540,018 (GRCm39) S292A probably benign Het
Gm15130 T A 2: 110,969,322 (GRCm39) D132V unknown Het
Gpr161 A G 1: 165,146,372 (GRCm39) H436R probably benign Het
Jaml C T 9: 45,012,287 (GRCm39) probably benign Het
Kcnc2 A T 10: 112,297,893 (GRCm39) S606C probably damaging Het
Kcnc2 G T 10: 112,297,892 (GRCm39) E605D probably benign Het
Kcnrg T C 14: 61,845,359 (GRCm39) I133T probably damaging Het
Kdm7a A G 6: 39,121,444 (GRCm39) I837T probably benign Het
Lactb2 A G 1: 13,700,350 (GRCm39) L227S probably benign Het
Lats1 T G 10: 7,578,069 (GRCm39) S398A probably benign Het
Nup107 A T 10: 117,609,257 (GRCm39) C365* probably null Het
Nup107 T C 10: 117,609,273 (GRCm39) probably null Het
Plekhf2 T C 4: 10,991,022 (GRCm39) K107E probably damaging Het
Rnf139 A T 15: 58,770,391 (GRCm39) I139F possibly damaging Het
Rsbn1 A G 3: 103,836,006 (GRCm39) N348S probably benign Het
Rttn A T 18: 88,992,464 (GRCm39) Q136H probably benign Het
Syne2 C T 12: 75,972,420 (GRCm39) T1052I possibly damaging Het
Tom1l1 A T 11: 90,565,566 (GRCm39) L101Q probably damaging Het
Tubal3 A G 13: 3,983,015 (GRCm39) N265S probably damaging Het
Zfp141 T C 7: 42,126,079 (GRCm39) N131S probably benign Het
Zfp944 T C 17: 22,558,186 (GRCm39) S354G probably benign Het
Zfp961 G A 8: 72,722,272 (GRCm39) A262T probably damaging Het
Other mutations in Llgl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Llgl2 APN 11 115,744,631 (GRCm39) missense probably benign
IGL01344:Llgl2 APN 11 115,742,019 (GRCm39) missense probably benign 0.01
IGL01980:Llgl2 APN 11 115,740,851 (GRCm39) missense probably damaging 1.00
IGL02220:Llgl2 APN 11 115,736,205 (GRCm39) missense possibly damaging 0.64
IGL02341:Llgl2 APN 11 115,741,946 (GRCm39) missense possibly damaging 0.70
IGL02399:Llgl2 APN 11 115,735,661 (GRCm39) missense probably damaging 0.97
IGL02415:Llgl2 APN 11 115,744,111 (GRCm39) missense probably damaging 0.98
IGL02632:Llgl2 APN 11 115,735,698 (GRCm39) missense probably damaging 1.00
IGL02990:Llgl2 APN 11 115,745,159 (GRCm39) missense probably benign 0.01
IGL03405:Llgl2 APN 11 115,741,668 (GRCm39) missense probably benign 0.09
R0097:Llgl2 UTSW 11 115,735,323 (GRCm39) nonsense probably null
R0166:Llgl2 UTSW 11 115,735,680 (GRCm39) missense probably damaging 1.00
R0277:Llgl2 UTSW 11 115,741,546 (GRCm39) missense probably damaging 1.00
R0323:Llgl2 UTSW 11 115,741,546 (GRCm39) missense probably damaging 1.00
R0345:Llgl2 UTSW 11 115,740,818 (GRCm39) splice site probably benign
R0614:Llgl2 UTSW 11 115,741,093 (GRCm39) missense probably damaging 1.00
R0980:Llgl2 UTSW 11 115,740,827 (GRCm39) missense probably damaging 1.00
R1387:Llgl2 UTSW 11 115,743,958 (GRCm39) missense probably damaging 0.99
R1456:Llgl2 UTSW 11 115,736,325 (GRCm39) missense probably benign 0.00
R1541:Llgl2 UTSW 11 115,743,947 (GRCm39) missense probably benign 0.00
R1832:Llgl2 UTSW 11 115,741,926 (GRCm39) missense probably damaging 1.00
R1950:Llgl2 UTSW 11 115,741,892 (GRCm39) missense probably damaging 0.96
R2991:Llgl2 UTSW 11 115,741,946 (GRCm39) missense probably benign 0.05
R4018:Llgl2 UTSW 11 115,738,438 (GRCm39) missense probably benign 0.31
R4582:Llgl2 UTSW 11 115,741,532 (GRCm39) missense possibly damaging 0.89
R4729:Llgl2 UTSW 11 115,739,125 (GRCm39) missense probably damaging 0.98
R4907:Llgl2 UTSW 11 115,744,800 (GRCm39) nonsense probably null
R5000:Llgl2 UTSW 11 115,735,728 (GRCm39) missense probably benign
R5016:Llgl2 UTSW 11 115,744,250 (GRCm39) missense probably damaging 1.00
R5175:Llgl2 UTSW 11 115,741,547 (GRCm39) missense probably damaging 1.00
R5857:Llgl2 UTSW 11 115,741,107 (GRCm39) missense probably damaging 1.00
R6190:Llgl2 UTSW 11 115,737,812 (GRCm39) missense probably benign 0.00
R6451:Llgl2 UTSW 11 115,735,767 (GRCm39) missense probably damaging 0.99
R6804:Llgl2 UTSW 11 115,734,141 (GRCm39) critical splice acceptor site probably null
R6909:Llgl2 UTSW 11 115,741,625 (GRCm39) missense probably damaging 1.00
R7324:Llgl2 UTSW 11 115,741,556 (GRCm39) missense possibly damaging 0.49
R7332:Llgl2 UTSW 11 115,739,125 (GRCm39) missense probably damaging 0.98
R7715:Llgl2 UTSW 11 115,740,554 (GRCm39) missense probably benign
R8038:Llgl2 UTSW 11 115,741,929 (GRCm39) missense probably benign 0.17
R8069:Llgl2 UTSW 11 115,744,112 (GRCm39) missense probably damaging 0.99
R8076:Llgl2 UTSW 11 115,737,755 (GRCm39) missense possibly damaging 0.69
R8109:Llgl2 UTSW 11 115,741,619 (GRCm39) missense possibly damaging 0.52
R8129:Llgl2 UTSW 11 115,741,737 (GRCm39) splice site probably null
R8731:Llgl2 UTSW 11 115,742,016 (GRCm39) missense probably benign 0.01
R8881:Llgl2 UTSW 11 115,743,866 (GRCm39) missense probably benign 0.02
R9286:Llgl2 UTSW 11 115,740,844 (GRCm39) missense probably damaging 0.99
R9365:Llgl2 UTSW 11 115,740,407 (GRCm39) missense probably benign 0.01
R9560:Llgl2 UTSW 11 115,725,682 (GRCm39) missense probably damaging 0.99
R9651:Llgl2 UTSW 11 115,742,941 (GRCm39) critical splice acceptor site probably null
R9729:Llgl2 UTSW 11 115,740,467 (GRCm39) missense probably damaging 1.00
X0058:Llgl2 UTSW 11 115,741,463 (GRCm39) missense probably damaging 0.99
Z1176:Llgl2 UTSW 11 115,740,380 (GRCm39) nonsense probably null
Posted On 2012-12-06