Incidental Mutation 'R9286:Llgl2'
ID 703929
Institutional Source Beutler Lab
Gene Symbol Llgl2
Ensembl Gene ENSMUSG00000020782
Gene Name LLGL2 scribble cell polarity complex component
Synonyms 9130006H11Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R9286 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 115714875-115746606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115740844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 449 (F449L)
Ref Sequence ENSEMBL: ENSMUSP00000099321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103032] [ENSMUST00000133250] [ENSMUST00000137900] [ENSMUST00000155878] [ENSMUST00000173289] [ENSMUST00000177736]
AlphaFold Q3TJ91
Predicted Effect probably damaging
Transcript: ENSMUST00000103032
AA Change: F449L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: F449L

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 probably benign
Transcript: ENSMUST00000133250
SMART Domains Protein: ENSMUSP00000118344
Gene: ENSMUSG00000020782

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
SMART Domains Protein: ENSMUSP00000119675
Gene: ENSMUSG00000020782

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
SMART Domains Protein: ENSMUSP00000117649
Gene: ENSMUSG00000020782

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: ENSMUST00000173289
SMART Domains Protein: ENSMUSP00000133790
Gene: ENSMUSG00000020782

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 possibly damaging
Transcript: ENSMUST00000177736
AA Change: F449L

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: F449L

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 G C 15: 91,058,827 (GRCm39) P539R possibly damaging Het
Adgrl3 A T 5: 81,794,413 (GRCm39) D478V probably benign Het
Adgrv1 A T 13: 81,594,520 (GRCm39) Y4165N probably damaging Het
Ago2 A G 15: 72,997,065 (GRCm39) L326P probably damaging Het
Akap6 A C 12: 53,119,254 (GRCm39) K1107T possibly damaging Het
Ank2 C T 3: 126,846,381 (GRCm39) A205T probably damaging Het
Ankrd27 T C 7: 35,326,869 (GRCm39) V738A probably benign Het
Asb1 A G 1: 91,480,150 (GRCm39) K291R probably benign Het
Cacna1e G T 1: 154,288,845 (GRCm39) P1847T probably damaging Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Cps1 T G 1: 67,198,030 (GRCm39) M365R probably damaging Het
Ctc1 T G 11: 68,917,180 (GRCm39) probably null Het
Cyp2b10 G T 7: 25,616,391 (GRCm39) G333C probably damaging Het
Cyp2d12 A G 15: 82,443,403 (GRCm39) E455G probably damaging Het
Daam2 A T 17: 49,786,922 (GRCm39) D539E possibly damaging Het
Dip2a T A 10: 76,138,096 (GRCm39) Y370F probably benign Het
Dok5 G A 2: 170,672,099 (GRCm39) E134K possibly damaging Het
Dync2h1 C T 9: 6,941,668 (GRCm39) A4164T probably benign Het
Ecm2 A G 13: 49,683,696 (GRCm39) Y558C Het
Eif3b A G 5: 140,411,064 (GRCm39) I172V probably benign Het
Flnb T C 14: 7,873,414 (GRCm38) F237L probably damaging Het
Gdpd4 A G 7: 97,647,639 (GRCm39) I429V probably damaging Het
Grik1 T C 16: 87,848,315 (GRCm39) Y151C Het
Gys2 C A 6: 142,376,037 (GRCm39) V542L possibly damaging Het
Hmx1 A G 5: 35,546,776 (GRCm39) T106A probably benign Het
Il1rap T C 16: 26,517,604 (GRCm39) V268A possibly damaging Het
Kansl3 T C 1: 36,387,720 (GRCm39) T543A probably benign Het
Kcnk1 T A 8: 126,752,148 (GRCm39) probably null Het
Larp7 CCTTCTT CCTT 3: 127,340,008 (GRCm39) probably benign Het
Lmod2 A G 6: 24,603,712 (GRCm39) E229G probably damaging Het
Loxl4 A T 19: 42,586,047 (GRCm39) V699E possibly damaging Het
Miga2 A G 2: 30,273,609 (GRCm39) D489G probably benign Het
Nlrp1b T A 11: 71,060,573 (GRCm39) H748L probably benign Het
Nudcd2 T A 11: 40,627,403 (GRCm39) Y108N probably damaging Het
Or10g1 G A 14: 52,648,075 (GRCm39) R85* probably null Het
Or52b2 A C 7: 104,985,971 (GRCm39) C317W probably damaging Het
Or5b120 T A 19: 13,479,791 (GRCm39) I28N possibly damaging Het
Pcdhb17 T A 18: 37,619,422 (GRCm39) V404E probably benign Het
Pde4dip T C 3: 97,607,183 (GRCm39) D2084G probably damaging Het
Phf20 A T 2: 156,134,470 (GRCm39) K552M probably damaging Het
Plcg2 A G 8: 118,331,976 (GRCm39) D854G probably benign Het
Psen1 A G 12: 83,775,549 (GRCm39) N316D probably benign Het
Rabgap1l G A 1: 160,051,818 (GRCm39) Q361* probably null Het
Ralb A T 1: 119,399,544 (GRCm39) D171E probably benign Het
Rev3l T C 10: 39,682,947 (GRCm39) I355T possibly damaging Het
Rttn A G 18: 88,995,849 (GRCm39) K211E probably benign Het
Scg2 A G 1: 79,413,653 (GRCm39) S357P probably damaging Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Slc17a5 A T 9: 78,445,566 (GRCm39) W456R probably damaging Het
Slf1 A T 13: 77,191,932 (GRCm39) D967E probably damaging Het
Spryd3 A T 15: 102,041,869 (GRCm39) V51E possibly damaging Het
Tgfbi A G 13: 56,773,563 (GRCm39) H187R probably damaging Het
Tmc3 A G 7: 83,252,643 (GRCm39) E348G probably damaging Het
Tmem45a2 A G 16: 56,867,332 (GRCm39) I123T probably damaging Het
Tonsl G A 15: 76,515,213 (GRCm39) H1058Y probably damaging Het
Trav13d-1 A G 14: 53,089,050 (GRCm39) K20E probably benign Het
Trpm2 C A 10: 77,777,014 (GRCm39) V428L probably benign Het
Usp25 A G 16: 76,904,864 (GRCm39) Y810C probably damaging Het
Vmn1r40 T A 6: 89,692,079 (GRCm39) F299I probably benign Het
Vmn2r18 A G 5: 151,499,175 (GRCm39) F430L probably benign Het
Vps13c G A 9: 67,880,203 (GRCm39) V3462I probably benign Het
Zfp955b T C 17: 33,521,683 (GRCm39) I384T probably benign Het
Zmym4 T C 4: 126,783,812 (GRCm39) D1138G probably damaging Het
Other mutations in Llgl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Llgl2 APN 11 115,725,710 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TAGGAGTGGCCCATAGATGGTG -3'
(R):5'- CATCGCTGTAGGGATCAAAGG -3'

Sequencing Primer
(F):5'- CCCATAGATGGTGGCACC -3'
(R):5'- GGATCAAAGGAGCCCACCTG -3'
Posted On 2022-03-25