Mutagenetix > Incidental Mutation

Incidental Mutation 'R1456:Llgl2'

161812

Institutional Source

Beutler Lab

Gene Symbol

Llgl2

Ensembl Gene

ENSMUSG00000020782

Gene Name

LLGL2 scribble cell polarity complex component

Synonyms

9130006H11Rik

MMRRC Submission

039511-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.676) question?

Stock #

R1456 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

115714875-115746606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115736325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 166 (D166G)

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 benign
Transcript: ENSMUST00000103032
AA Change: D166G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: D166G

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

SMART Domains

Protein: ENSMUSP00000118344
Gene: ENSMUSG00000020782

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

SMART Domains

Protein: ENSMUSP00000119675
Gene: ENSMUSG00000020782

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

probably benign
Transcript: ENSMUST00000155878

SMART Domains

Protein: ENSMUSP00000117649
Gene: ENSMUSG00000020782

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

SMART Domains

Protein: ENSMUSP00000133790
Gene: ENSMUSG00000020782

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: D166G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: D166G

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

Meta Mutation Damage Score

0.1154

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.9%

Validation Efficiency

98% (90/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,485,731 (GRCm39)		probably null	Het
4932414N04Rik	A	T	2: 68,546,558 (GRCm39)	E80V	possibly damaging	Het
Alkbh3	A	G	2: 93,831,764 (GRCm39)		probably null	Het
Ankar	A	T	1: 72,704,277 (GRCm39)	Y664N	probably benign	Het
Arhgap18	T	C	10: 26,792,436 (GRCm39)	I629T	probably benign	Het
Arhgef28	C	T	13: 98,211,510 (GRCm39)	E158K	probably benign	Het
Asxl2	C	T	12: 3,551,872 (GRCm39)	H1205Y	possibly damaging	Het
Birc6	A	G	17: 74,916,285 (GRCm39)	I427V	probably benign	Het
Camk4	A	G	18: 33,262,896 (GRCm39)		probably benign	Het
Ccdc178	A	T	18: 22,283,481 (GRCm39)	D16E	possibly damaging	Het
Cct6b	G	T	11: 82,644,446 (GRCm39)		probably benign	Het
Ccz1	A	G	5: 143,947,836 (GRCm39)		probably benign	Het
Cdh23	T	C	10: 60,322,899 (GRCm39)	N335S	possibly damaging	Het
Cemip	T	A	7: 83,647,718 (GRCm39)	S121C	possibly damaging	Het
Cers1	A	G	8: 70,783,838 (GRCm39)	E262G	probably damaging	Het
Clec11a	G	T	7: 43,955,874 (GRCm39)	P58T	possibly damaging	Het
Clec16a	T	C	16: 10,509,419 (GRCm39)	I797T	probably damaging	Het
Col4a1	A	C	8: 11,292,829 (GRCm39)		probably benign	Het
Colgalt2	G	A	1: 152,360,655 (GRCm39)	V231I	probably damaging	Het
D430041D05Rik	G	T	2: 104,038,428 (GRCm39)	N1580K	probably damaging	Het
Dcdc5	A	G	2: 106,181,910 (GRCm39)		noncoding transcript	Het
Ddx17	T	C	15: 79,414,577 (GRCm39)	D530G	probably benign	Het
Dhx9	A	T	1: 153,341,441 (GRCm39)	D601E	probably benign	Het
Dnah3	A	G	7: 119,646,853 (GRCm39)	Y1059H	probably damaging	Het
Dtx1	C	A	5: 120,848,569 (GRCm39)		probably benign	Het
Egfr	A	G	11: 16,813,065 (GRCm39)	S182G	probably benign	Het
Fads1	A	G	19: 10,163,116 (GRCm39)	N131S	probably benign	Het
Fam243	T	A	16: 92,117,553 (GRCm39)	Y245F	probably damaging	Het
Fancm	C	T	12: 65,165,125 (GRCm39)	A1490V	possibly damaging	Het
Fsd2	C	A	7: 81,209,339 (GRCm39)	E168*	probably null	Het
Galnt2l	T	C	8: 123,568,687 (GRCm39)		probably benign	Het
Gm9772	A	T	17: 22,226,099 (GRCm39)	C62S	probably damaging	Het
H60c	C	T	10: 3,210,307 (GRCm39)	A81T	possibly damaging	Het
Hira	T	G	16: 18,744,413 (GRCm39)	S377A	probably benign	Het
Iffo1	T	C	6: 125,122,877 (GRCm39)	S220P	possibly damaging	Het
Itih4	A	G	14: 30,614,610 (GRCm39)	M491V	probably benign	Het
Khdrbs2	T	C	1: 32,559,777 (GRCm39)	R102G	possibly damaging	Het
Klhdc7a	T	G	4: 139,692,835 (GRCm39)	Y704S	possibly damaging	Het
Klk1b21	G	A	7: 43,754,923 (GRCm39)	V73I	probably benign	Het
Krt42	G	A	11: 100,160,435 (GRCm39)	A88V	probably benign	Het
Krt42	C	T	11: 100,160,436 (GRCm39)	A88T	probably benign	Het
Limk1	G	T	5: 134,686,364 (GRCm39)	D580E	probably benign	Het
Lipk	C	T	19: 34,024,185 (GRCm39)	P323S	probably damaging	Het
Lipo5	T	A	19: 33,443,273 (GRCm39)		probably benign	Het
Mapk8ip3	A	T	17: 25,125,923 (GRCm39)	N439K	probably damaging	Het
Mapkbp1	C	T	2: 119,803,626 (GRCm39)	R32W	probably damaging	Het
Med23	T	A	10: 24,779,550 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,777 (GRCm39)	M45K	probably damaging	Het
Mroh7	G	A	4: 106,552,338 (GRCm39)		probably benign	Het
Mrpl27	G	A	11: 94,544,659 (GRCm39)		probably benign	Het
Ms4a10	T	A	19: 10,942,097 (GRCm39)	T175S	possibly damaging	Het
Muc17	T	C	5: 137,166,799 (GRCm39)	H330R	probably benign	Het
Myo15a	A	T	11: 60,399,028 (GRCm39)	I2787F	probably damaging	Het
Ndst1	A	G	18: 60,846,277 (GRCm39)	C11R	possibly damaging	Het
Obsl1	C	A	1: 75,464,300 (GRCm39)	G1669*	probably null	Het
Or5p56	A	G	7: 107,589,605 (GRCm39)	E11G	probably benign	Het
Or6c208	A	T	10: 129,223,652 (GRCm39)	D50V	probably damaging	Het
Or7e177	T	C	9: 20,212,134 (GRCm39)	Y214H	probably benign	Het
Pafah2	T	A	4: 134,131,468 (GRCm39)	I52N	probably damaging	Het
Pcsk6	A	T	7: 65,693,283 (GRCm39)	I693F	possibly damaging	Het
Pde4c	G	T	8: 71,199,262 (GRCm39)	R228L	probably benign	Het
Pdzd8	T	C	19: 59,288,904 (GRCm39)	N832S	probably benign	Het
Plbd1	T	A	6: 136,590,814 (GRCm39)	M451L	probably benign	Het
Pramel14	G	T	4: 143,719,851 (GRCm39)	D171E	probably benign	Het
Prom1	T	C	5: 44,194,965 (GRCm39)	D260G	probably damaging	Het
Ranbp17	A	G	11: 33,216,310 (GRCm39)	S813P	probably damaging	Het
Scn10a	T	C	9: 119,520,544 (GRCm39)	I119V	probably benign	Het
Sh3pxd2b	A	G	11: 32,365,967 (GRCm39)	T353A	probably damaging	Het
Shq1	A	T	6: 100,646,659 (GRCm39)		probably null	Het
Slc22a28	T	A	19: 8,049,223 (GRCm39)	H342L	possibly damaging	Het
Slco2b1	C	T	7: 99,314,114 (GRCm39)	E9K	probably null	Het
Specc1l	T	C	10: 75,082,118 (GRCm39)	F505L	probably damaging	Het
Sptan1	G	T	2: 29,870,215 (GRCm39)		probably null	Het
St6gal2	A	G	17: 55,797,932 (GRCm39)		probably benign	Het
Taok2	T	C	7: 126,479,313 (GRCm39)	I73V	probably benign	Het
Tax1bp1	C	T	6: 52,721,229 (GRCm39)	T478I	probably benign	Het
Tbc1d4	A	T	14: 101,744,542 (GRCm39)	N361K	probably damaging	Het
Tph1	A	T	7: 46,296,907 (GRCm39)	Y429*	probably null	Het
Tprkb	A	T	6: 85,901,403 (GRCm39)	R14W	probably damaging	Het
Trio	A	T	15: 27,753,890 (GRCm39)		probably benign	Het
Ttc23	T	C	7: 67,316,902 (GRCm39)		probably benign	Het
Vmn1r211	T	C	13: 23,036,415 (GRCm39)	Y84C	probably damaging	Het
Vmn2r22	C	G	6: 123,614,624 (GRCm39)	G322A	possibly damaging	Het
Wdr74	A	G	19: 8,717,776 (GRCm39)	Q330R	probably benign	Het
Wdtc1	C	A	4: 133,024,739 (GRCm39)	S486I	possibly damaging	Het
Zbtb24	T	C	10: 41,340,989 (GRCm39)	V673A	possibly damaging	Het
Zfpm2	A	T	15: 40,965,877 (GRCm39)	R655S	probably damaging	Het
Zkscan5	A	G	5: 145,157,798 (GRCm39)	N694D	probably benign	Het

Other mutations in Llgl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ATGCTCTGAAGCCAGCCAAGAC -3'
(R):5'- TTGACTGAGACGCAACTGGGGAAC -3'

Sequencing Primer
(F):5'- GCTGGTAAAGCCATTGCATC -3'
(R):5'- GAACAGGTAGATGGTTTTACTTAGAG -3'

Posted On

2014-03-14