Incidental Mutation 'R7332:Llgl2'
ID 569311
Institutional Source Beutler Lab
Gene Symbol Llgl2
Ensembl Gene ENSMUSG00000020782
Gene Name LLGL2 scribble cell polarity complex component
Synonyms 9130006H11Rik
MMRRC Submission 045425-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R7332 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 115714875-115746606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115739125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 332 (V332A)
Ref Sequence ENSEMBL: ENSMUSP00000136054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103032] [ENSMUST00000133250] [ENSMUST00000137900] [ENSMUST00000155878] [ENSMUST00000172552] [ENSMUST00000177736] [ENSMUST00000173289]
AlphaFold Q3TJ91
Predicted Effect possibly damaging
Transcript: ENSMUST00000103032
AA Change: V332A

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: V332A

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
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 noncoding transcript
Transcript: ENSMUST00000137951
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 damaging
Transcript: ENSMUST00000177736
AA Change: V332A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: V332A

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
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
Meta Mutation Damage Score 0.3646 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A G 19: 56,906,553 (GRCm39) S449P probably damaging Het
Atp6v0c A C 17: 24,388,198 (GRCm39) S21A probably benign Het
Cacna1e T C 1: 154,601,547 (GRCm39) Y40C possibly damaging Het
Cdadc1 A G 14: 59,813,213 (GRCm39) I398T possibly damaging Het
Cfap44 T A 16: 44,250,191 (GRCm39) D756E probably damaging Het
Clcnkb A T 4: 141,141,243 (GRCm39) L104Q probably null Het
Clk1 G A 1: 58,451,853 (GRCm39) H421Y probably benign Het
Cmpk2 A T 12: 26,528,061 (GRCm39) D426V probably damaging Het
Cmya5 A G 13: 93,229,061 (GRCm39) L2009S possibly damaging Het
Col5a2 C G 1: 45,419,325 (GRCm39) D1252H probably damaging Het
Coro1b A G 19: 4,199,356 (GRCm39) K5R probably benign Het
Csmd2 A G 4: 128,313,360 (GRCm39) T1346A Het
Csrp1 G T 1: 135,667,149 (GRCm39) W4L probably benign Het
Cyp3a25 A G 5: 145,929,817 (GRCm39) I184T probably damaging Het
Egfl7 C A 2: 26,480,725 (GRCm39) R128S probably benign Het
Fggy A T 4: 95,511,719 (GRCm39) N157I probably damaging Het
Gldc A T 19: 30,093,926 (GRCm39) L697Q probably damaging Het
Gm4952 T A 19: 12,604,373 (GRCm39) Y262N probably damaging Het
Gsap T A 5: 21,495,119 (GRCm39) M821K probably benign Het
Hps1 T C 19: 42,766,351 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,280,038 (GRCm39) probably benign Het
Igfbp7 G A 5: 77,499,803 (GRCm39) T220I probably damaging Het
Ints3 T C 3: 90,322,819 (GRCm39) Q137R probably damaging Het
Kcna6 A G 6: 126,716,292 (GRCm39) F199S possibly damaging Het
Kirrel1 T C 3: 86,995,705 (GRCm39) I410V probably benign Het
Lrrc27 A G 7: 138,822,661 (GRCm39) I517M probably damaging Het
Mas1 T C 17: 13,061,106 (GRCm39) T106A probably benign Het
Mast4 T A 13: 102,887,932 (GRCm39) Y1159F possibly damaging Het
Mmp2 A G 8: 93,576,780 (GRCm39) D601G probably damaging Het
Mycbp2 T A 14: 103,434,793 (GRCm39) I2217F probably damaging Het
Mycbp2 A G 14: 103,393,889 (GRCm39) S2891P probably damaging Het
Naip6 A G 13: 100,437,209 (GRCm39) V438A possibly damaging Het
Or4g17 A G 2: 111,209,738 (GRCm39) H131R not run Het
Pdf T C 8: 107,775,173 (GRCm39) R20G probably benign Het
Pfdn2 T C 1: 171,184,162 (GRCm39) L47P probably damaging Het
Pik3c2g C A 6: 139,841,981 (GRCm39) N795K Het
Ppip5k1 A T 2: 121,142,450 (GRCm39) V1333D probably damaging Het
Pramel51 T C 12: 88,143,187 (GRCm39) T339A possibly damaging Het
Prss44 A T 9: 110,644,530 (GRCm39) I213F probably damaging Het
Rbm47 A G 5: 66,183,557 (GRCm39) Y349H probably damaging Het
Rcl1 A T 19: 29,108,096 (GRCm39) T253S probably benign Het
Rdh1 A G 10: 127,595,754 (GRCm39) probably benign Het
Scn7a C T 2: 66,522,898 (GRCm39) W935* probably null Het
Sec24b T C 3: 129,835,042 (GRCm39) N52S probably benign Het
Serpinb5 A T 1: 106,800,091 (GRCm39) I94L probably benign Het
Setx T C 2: 29,036,638 (GRCm39) V1041A probably benign Het
Slco3a1 G A 7: 73,968,232 (GRCm39) A496V possibly damaging Het
Spag5 T A 11: 78,204,205 (GRCm39) L486* probably null Het
Spink5 T C 18: 44,115,317 (GRCm39) I183T probably damaging Het
Srd5a1 T C 13: 69,759,173 (GRCm39) Y65C probably benign Het
Ssh2 T A 11: 77,344,349 (GRCm39) I778N possibly damaging Het
Sstr1 C T 12: 58,260,172 (GRCm39) S265L probably damaging Het
Syne2 T A 12: 76,014,529 (GRCm39) probably null Het
Tctn1 A T 5: 122,399,547 (GRCm39) D92E probably damaging Het
Tiam2 A G 17: 3,503,644 (GRCm39) I940M probably damaging Het
Tmeff2 T C 1: 51,018,599 (GRCm39) W194R unknown Het
Tomm20 T C 8: 127,663,903 (GRCm39) T94A probably benign Het
Ucn2 A G 9: 108,815,532 (GRCm39) N98S probably benign Het
V1rd19 A T 7: 23,702,743 (GRCm39) I70L probably benign Het
Vmn1r18 A G 6: 57,367,503 (GRCm39) L17P probably benign Het
Vmn2r61 A G 7: 41,909,534 (GRCm39) T20A probably benign Het
Wdr59 G A 8: 112,220,986 (GRCm39) T182I Het
Zfp40 A T 17: 23,395,155 (GRCm39) C477* probably null Het
Zfp68 A G 5: 138,604,830 (GRCm39) S498P possibly damaging Het
Zfp729b T C 13: 67,757,755 (GRCm39) probably null Het
Zfp846 T G 9: 20,505,521 (GRCm39) N460K probably benign Het
Zim1 T C 7: 6,680,352 (GRCm39) Y437C 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
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'- CCGCTTGTGACTATCAGGAG -3'
(R):5'- GTTGGGCCAAATCCCTTAAAGAG -3'

Sequencing Primer
(F):5'- CTATCAGGAGTTGTACAGGAGCCC -3'
(R):5'- GCCTGGAAAGATGGCCTTC -3'
Posted On 2019-09-13