Incidental Mutation 'R9365:Llgl2'
ID 708919
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 # R9365 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 115714875-115746606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115740407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 368 (T368A)
Ref Sequence ENSEMBL: ENSMUSP00000099321 (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: T368A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: T368A

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: ENSMUST00000172552
SMART Domains Protein: ENSMUSP00000133803
Gene: ENSMUSG00000020782

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
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 probably benign
Transcript: ENSMUST00000177736
AA Change: T368A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: T368A

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Ahi1 G A 10: 20,848,035 (GRCm39) R481Q probably damaging Het
Arhgef3 T C 14: 27,101,555 (GRCm39) I77T probably damaging Het
Ash1l T A 3: 88,889,207 (GRCm39) V362E possibly damaging Het
Bcat2 T A 7: 45,225,294 (GRCm39) F57L probably damaging Het
Ccdc73 C T 2: 104,738,011 (GRCm39) L36F probably damaging Het
Ccl19 C T 4: 42,756,288 (GRCm39) V15I probably benign Het
Cenpe T A 3: 134,954,207 (GRCm39) V1688E possibly damaging Het
Ces1a A T 8: 93,774,727 (GRCm39) F4I probably benign Het
Chchd6 G A 6: 89,551,413 (GRCm39) P83S probably benign Het
Cnr1 T C 4: 33,943,798 (GRCm39) M62T probably benign Het
Colec12 T C 18: 9,848,146 (GRCm39) L108P probably damaging Het
Cyb5a T C 18: 84,894,979 (GRCm39) probably benign Het
Dhrs4 C T 14: 55,724,776 (GRCm39) T181I probably benign Het
Disc1 T C 8: 125,851,285 (GRCm39) S392P probably benign Het
Dnah3 A G 7: 119,566,859 (GRCm39) F69L Het
Ehmt1 T C 2: 24,728,722 (GRCm39) D726G probably damaging Het
Epg5 T A 18: 77,997,957 (GRCm39) L462I probably damaging Het
Exoc2 A T 13: 31,040,697 (GRCm39) S774T probably benign Het
Fam135b A G 15: 71,334,813 (GRCm39) S794P probably benign Het
Frmd4a T C 2: 4,606,973 (GRCm39) V646A probably benign Het
Gm3543 G T 14: 41,804,093 (GRCm39) D57E possibly damaging Het
Golgb1 T A 16: 36,736,124 (GRCm39) D1831E probably damaging Het
Hace1 T G 10: 45,586,092 (GRCm39) probably null Het
Irgc T C 7: 24,131,872 (GRCm39) E315G possibly damaging Het
Ism1 A G 2: 139,582,321 (GRCm39) Y211C probably damaging Het
Kpna1 T G 16: 35,833,287 (GRCm39) V121G probably damaging Het
Lifr T A 15: 7,198,521 (GRCm39) F250L probably damaging Het
Lmln T A 16: 32,925,169 (GRCm39) C467* probably null Het
Lrrtm3 T C 10: 63,923,943 (GRCm39) E408G probably benign Het
Melk C T 4: 44,340,693 (GRCm39) A330V probably null Het
Mmp13 T G 9: 7,277,921 (GRCm39) D271E probably benign Het
Myh11 T C 16: 14,052,297 (GRCm39) T390A Het
Myh8 A G 11: 67,174,632 (GRCm39) K249R probably benign Het
Nr1h4 T A 10: 89,319,315 (GRCm39) M184L probably damaging Het
Obscn T A 11: 58,885,337 (GRCm39) probably null Het
Otog T G 7: 45,920,688 (GRCm39) C964G probably damaging Het
Oxct2b T C 4: 123,010,589 (GRCm39) S170P probably benign Het
Pcdha4 T C 18: 37,087,112 (GRCm39) S432P possibly damaging Het
Prb1a T A 6: 132,184,201 (GRCm39) R477S unknown Het
Prh1 G A 6: 132,549,108 (GRCm39) G205D unknown Het
Psg23 C T 7: 18,344,393 (GRCm39) G354D probably damaging Het
Pura T G 18: 36,420,913 (GRCm39) D233E possibly damaging Het
Rb1cc1 G T 1: 6,315,117 (GRCm39) L423F probably damaging Het
Rimbp3 T C 16: 17,026,620 (GRCm39) S15P possibly damaging Het
Scn1a A G 2: 66,148,465 (GRCm39) F7L probably benign Het
Sftpb A T 6: 72,284,189 (GRCm39) R203* probably null Het
Slc30a9 A G 5: 67,507,142 (GRCm39) K478R probably damaging Het
Slc35f5 T A 1: 125,496,333 (GRCm39) M156K probably benign Het
Slc41a3 A G 6: 90,612,327 (GRCm39) I232V probably benign Het
Slit2 A G 5: 48,461,534 (GRCm39) D1527G probably benign Het
Srfbp1 T G 18: 52,623,540 (GRCm39) V389G possibly damaging Het
Sun2 C T 15: 79,622,720 (GRCm39) probably null Het
Tep1 G T 14: 51,064,597 (GRCm39) A2386D probably damaging Het
Tex15 T A 8: 34,064,564 (GRCm39) S1331R possibly damaging Het
Tgm1 A T 14: 55,942,349 (GRCm39) N667K probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tsen54 T C 11: 115,713,410 (GRCm39) F438L probably damaging Het
Ube4a T C 9: 44,862,191 (GRCm39) H150R probably benign Het
Uty T C Y: 1,099,712 (GRCm39) N1161S possibly damaging Het
Vmn2r16 T A 5: 109,488,064 (GRCm39) D312E probably damaging Het
Wdr55 T G 18: 36,893,354 (GRCm39) C5W probably damaging Het
Zbtb24 C A 10: 41,332,540 (GRCm39) P405Q probably damaging Het
Zkscan2 T A 7: 123,079,591 (GRCm39) I789F 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
R9286:Llgl2 UTSW 11 115,740,844 (GRCm39) missense probably damaging 0.99
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'- TGCAGATTGATGGCTCCTG -3'
(R):5'- TGGGCCACTCCTAGAAGAAG -3'

Sequencing Primer
(F):5'- AGATTGATGGCTCCTGCTCCC -3'
(R):5'- AGTCCAAGAGAACCTGGGCC -3'
Posted On 2022-04-18