Incidental Mutation 'R0097:Llgl2'
ID 41167
Institutional Source Beutler Lab
Gene Symbol Llgl2
Ensembl Gene ENSMUSG00000020782
Gene Name LLGL2 scribble cell polarity complex component
Synonyms 9130006H11Rik
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R0097 (G1)
Quality Score 204
Status Validated
Chromosome 11
Chromosomal Location 115714875-115746606 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 115735323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 59 (Y59*)
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 null
Transcript: ENSMUST00000103032
AA Change: Y59*
SMART Domains Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: Y59*

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 null
Transcript: ENSMUST00000133250
AA Change: Y59*
SMART Domains Protein: ENSMUSP00000118344
Gene: ENSMUSG00000020782
AA Change: Y59*

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 null
Transcript: ENSMUST00000137900
AA Change: Y59*
SMART Domains Protein: ENSMUSP00000119675
Gene: ENSMUSG00000020782
AA Change: Y59*

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 null
Transcript: ENSMUST00000155878
AA Change: Y59*
SMART Domains Protein: ENSMUSP00000117649
Gene: ENSMUSG00000020782
AA Change: Y59*

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 null
Transcript: ENSMUST00000172552
AA Change: Y59*
SMART Domains Protein: ENSMUSP00000133803
Gene: ENSMUSG00000020782
AA Change: Y59*

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 null
Transcript: ENSMUST00000173289
AA Change: Y59*
SMART Domains Protein: ENSMUSP00000133790
Gene: ENSMUSG00000020782
AA Change: Y59*

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 null
Transcript: ENSMUST00000177736
AA Change: Y59*
SMART Domains Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: Y59*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ubp1 T C 9: 113,802,575 (GRCm39) probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGTGAATTGCCTTCCCCAACCC -3'
(R):5'- TTTCAAGGAGCCCCAGGACAAAAG -3'

Sequencing Primer
(F):5'- TCAGATCACTGACTGAGTGC -3'
(R):5'- ACAAAAGGCTCTCTGTGGTTC -3'
Posted On 2013-05-23