Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02220:Llgl2'

285119

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

Is this an essential gene?

Possibly essential (E-score: 0.659) question?

Stock #

IGL02220

Quality Score

Status

Chromosome

Chromosomal Location

115824049-115855780 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115845379 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 126 (A126D)

Ref Sequence

ENSEMBL: ENSMUSP00000117649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103032] [ENSMUST00000133250] [ENSMUST00000137900] [ENSMUST00000155878] [ENSMUST00000172552] [ENSMUST00000173289] [ENSMUST00000177736]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103032
AA Change: A126D

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: A126D

Domain	Start	End	E-Value	Type
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: A126D

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118344
Gene: ENSMUSG00000020782
AA Change: A126D

Domain	Start	End	E-Value	Type
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: A126D

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119675
Gene: ENSMUSG00000020782
AA Change: A126D

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000155878
AA Change: A126D

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117649
Gene: ENSMUSG00000020782
AA Change: A126D

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: A126D

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133790
Gene: ENSMUSG00000020782
AA Change: A126D

Domain	Start	End	E-Value	Type
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: A126D

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: A126D

Domain	Start	End	E-Value	Type
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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,711,172	D460G	probably damaging	Het
Ankrd9	T	C	12: 110,977,499	M1V	probably null	Het
Anks1	T	C	17: 28,054,707	I977T	probably damaging	Het
Bcar1	T	C	8: 111,711,207	D767G	possibly damaging	Het
Bcl6	A	T	16: 23,974,891	I102N	probably damaging	Het
Cacna2d2	G	A	9: 107,514,879	G473D	probably damaging	Het
Cdh23	G	T	10: 60,305,124	H3148Q	probably damaging	Het
Col6a4	A	G	9: 106,062,942	V1263A	possibly damaging	Het
Crtc2	T	C	3: 90,259,148		probably benign	Het
D130043K22Rik	G	A	13: 24,883,755	G825S	possibly damaging	Het
Dera	T	A	6: 137,780,817		probably null	Het
Dnah17	G	T	11: 118,072,967	Y2506*	probably null	Het
Enam	T	A	5: 88,504,559	L1309*	probably null	Het
Fbxo15	G	A	18: 84,964,192		probably null	Het
Fgfbp1	T	C	5: 43,979,486	K155E	probably damaging	Het
Foxj2	C	T	6: 122,838,581		probably benign	Het
Fuca1	A	G	4: 135,939,219		probably benign	Het
Gad1-ps	T	A	10: 99,445,322		noncoding transcript	Het
H2-Eb2	C	T	17: 34,325,687		probably benign	Het
Insr	A	T	8: 3,159,578	F1168L	probably damaging	Het
Isx	T	A	8: 74,892,705	V175E	possibly damaging	Het
Kansl3	T	C	1: 36,367,989		probably benign	Het
Lin9	T	C	1: 180,667,367	I218T	probably damaging	Het
Ltbp2	T	C	12: 84,829,309	E488G	possibly damaging	Het
Maml3	A	G	3: 51,690,218	V369A	possibly damaging	Het
Mthfsl	A	G	9: 88,715,655	I14T	probably damaging	Het
Myo3b	A	G	2: 70,289,579		probably benign	Het
Nfkbil1	T	C	17: 35,220,746	R264G	possibly damaging	Het
Olfr140	A	G	2: 90,051,694	L210P	probably damaging	Het
Pde5a	G	T	3: 122,748,382	A174S	probably benign	Het
Plch1	A	T	3: 63,698,961	I1173N	probably damaging	Het
Ppfia1	C	A	7: 144,481,775	R1171L	probably damaging	Het
Prom1	T	C	5: 44,014,789	D595G	probably damaging	Het
Ptprz1	T	C	6: 23,042,743		probably benign	Het
Samsn1	A	G	16: 75,883,875		probably null	Het
Sbno2	T	A	10: 80,072,368	T66S	probably benign	Het
Serpina1c	T	A	12: 103,896,079	I326F	probably damaging	Het
Slc12a1	T	C	2: 125,188,270		probably null	Het
Slc18a2	A	G	19: 59,276,556	E324G	probably benign	Het
Slc40a1	A	T	1: 45,911,335	M319K	probably damaging	Het
Slc44a5	T	C	3: 154,250,971	Y287H	possibly damaging	Het
Stx4a	A	G	7: 127,842,500	E63G	possibly damaging	Het
Sv2a	T	C	3: 96,190,716	F545S	probably benign	Het
Svop	T	C	5: 114,065,528	D65G	probably benign	Het
Tex30	A	T	1: 44,087,022	S182R	probably benign	Het
Tmem121b	T	C	6: 120,492,337	D473G	probably damaging	Het
Tnfrsf19	C	A	14: 60,973,492		probably benign	Het
Tnrc6a	T	C	7: 123,170,456	S490P	probably benign	Het
Ubr4	A	G	4: 139,388,435	T82A	probably benign	Het
Vps16	A	G	2: 130,441,653	D589G	possibly damaging	Het
Zscan29	A	C	2: 121,166,689	S184A	probably damaging	Het

Other mutations in Llgl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Llgl2	APN	11	115834884	missense	probably benign	0.00
IGL01145:Llgl2	APN	11	115853805	missense	probably benign
IGL01344:Llgl2	APN	11	115851193	missense	probably benign	0.01
IGL01980:Llgl2	APN	11	115850025	missense	probably damaging	1.00
IGL02341:Llgl2	APN	11	115851120	missense	possibly damaging	0.70
IGL02399:Llgl2	APN	11	115844835	missense	probably damaging	0.97
IGL02415:Llgl2	APN	11	115853285	missense	probably damaging	0.98
IGL02632:Llgl2	APN	11	115844872	missense	probably damaging	1.00
IGL02990:Llgl2	APN	11	115854333	missense	probably benign	0.01
IGL03405:Llgl2	APN	11	115850842	missense	probably benign	0.09
R0097:Llgl2	UTSW	11	115844497	nonsense	probably null
R0166:Llgl2	UTSW	11	115844854	missense	probably damaging	1.00
R0277:Llgl2	UTSW	11	115850720	missense	probably damaging	1.00
R0323:Llgl2	UTSW	11	115850720	missense	probably damaging	1.00
R0345:Llgl2	UTSW	11	115849992	splice site	probably benign
R0614:Llgl2	UTSW	11	115850267	missense	probably damaging	1.00
R0980:Llgl2	UTSW	11	115850001	missense	probably damaging	1.00
R1387:Llgl2	UTSW	11	115853132	missense	probably damaging	0.99
R1456:Llgl2	UTSW	11	115845499	missense	probably benign	0.00
R1541:Llgl2	UTSW	11	115853121	missense	probably benign	0.00
R1832:Llgl2	UTSW	11	115851100	missense	probably damaging	1.00
R1950:Llgl2	UTSW	11	115851066	missense	probably damaging	0.96
R2991:Llgl2	UTSW	11	115851120	missense	probably benign	0.05
R4018:Llgl2	UTSW	11	115847612	missense	probably benign	0.31
R4582:Llgl2	UTSW	11	115850706	missense	possibly damaging	0.89
R4729:Llgl2	UTSW	11	115848299	missense	probably damaging	0.98
R4907:Llgl2	UTSW	11	115853974	nonsense	probably null
R5000:Llgl2	UTSW	11	115844902	missense	probably benign
R5016:Llgl2	UTSW	11	115853424	missense	probably damaging	1.00
R5175:Llgl2	UTSW	11	115850721	missense	probably damaging	1.00
R5857:Llgl2	UTSW	11	115850281	missense	probably damaging	1.00
R6190:Llgl2	UTSW	11	115846986	missense	probably benign	0.00
R6451:Llgl2	UTSW	11	115844941	missense	probably damaging	0.99
R6804:Llgl2	UTSW	11	115843315	critical splice acceptor site	probably null
R6909:Llgl2	UTSW	11	115850799	missense	probably damaging	1.00
R7324:Llgl2	UTSW	11	115850730	missense	possibly damaging	0.49
R7332:Llgl2	UTSW	11	115848299	missense	probably damaging	0.98
R7715:Llgl2	UTSW	11	115849728	missense	probably benign
R8038:Llgl2	UTSW	11	115851103	missense	probably benign	0.17
R8069:Llgl2	UTSW	11	115853286	missense	probably damaging	0.99
R8076:Llgl2	UTSW	11	115846929	missense	possibly damaging	0.69
R8109:Llgl2	UTSW	11	115850793	missense	possibly damaging	0.52
R8129:Llgl2	UTSW	11	115850911	splice site	probably null
R8731:Llgl2	UTSW	11	115851190	missense	probably benign	0.01
X0058:Llgl2	UTSW	11	115850637	missense	probably damaging	0.99
Z1176:Llgl2	UTSW	11	115849554	nonsense	probably null

Posted On

2015-04-16