Mutagenetix > Incidental Mutation

Incidental Mutation 'R6190:Llgl2'

502497

Institutional Source

Beutler Lab

Gene Symbol

Llgl2

Ensembl Gene

ENSMUSG00000020782

Gene Name

LLGL2 scribble cell polarity complex component

Synonyms

9130006H11Rik

MMRRC Submission

044330-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

R6190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115714875-115746606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115737812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 199 (R199Q)

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: R199Q

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

SMART Domains

Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: R199Q

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: R199Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: R199Q

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,423,472 (GRCm39)	L224Q	probably damaging	Het
Abcc5	A	G	16: 20,211,529 (GRCm39)	M478T	probably benign	Het
Acot10	T	C	15: 20,665,871 (GRCm39)	D290G	possibly damaging	Het
Actr3b	A	G	5: 26,036,688 (GRCm39)	Q167R	probably benign	Het
Actr8	C	T	14: 29,713,674 (GRCm39)	R565*	probably null	Het
Adcy7	C	T	8: 89,052,358 (GRCm39)		probably null	Het
Adgrb3	C	T	1: 25,459,728 (GRCm39)	V576I	probably benign	Het
Adgrv1	T	A	13: 81,607,882 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,672,898 (GRCm39)		probably null	Het
Ak2	A	G	4: 128,892,976 (GRCm39)	D45G	probably damaging	Het
Ak9	C	G	10: 41,298,403 (GRCm39)	Q1489E	unknown	Het
Ak9	A	T	10: 41,298,404 (GRCm39)	Q1489L	unknown	Het
Akap12	C	A	10: 4,306,268 (GRCm39)	S1026Y	possibly damaging	Het
Ankhd1	T	G	18: 36,744,862 (GRCm39)	S601A	possibly damaging	Het
Apba2	A	T	7: 64,389,628 (GRCm39)	E508V	probably damaging	Het
Arhgap18	A	G	10: 26,722,031 (GRCm39)	M1V	probably null	Het
Arhgef10l	G	A	4: 140,270,073 (GRCm39)	T865M	possibly damaging	Het
Bdh1	T	A	16: 31,268,715 (GRCm39)	V150D	probably damaging	Het
Becn1	A	G	11: 101,186,200 (GRCm39)	C135R	probably damaging	Het
C2cd4d	A	G	3: 94,271,226 (GRCm39)	D164G	probably benign	Het
Cacna1e	C	A	1: 154,362,316 (GRCm39)	V424F	possibly damaging	Het
Capn7	C	A	14: 31,085,560 (GRCm39)	T511K	probably benign	Het
Cdc5l	G	A	17: 45,718,943 (GRCm39)	P558S	probably benign	Het
Cep170	T	A	1: 176,609,975 (GRCm39)	H112L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Clca3a1	A	G	3: 144,463,821 (GRCm39)	V152A	probably benign	Het
Cnot10	G	T	9: 114,461,791 (GRCm39)	T24K	probably damaging	Het
Cntnap5b	T	A	1: 100,306,800 (GRCm39)	I839N	possibly damaging	Het
Cyp4f13	A	T	17: 33,148,847 (GRCm39)	D299E	probably damaging	Het
Dclk1	A	G	3: 55,395,232 (GRCm39)	E128G	probably damaging	Het
Dennd1b	T	C	1: 139,061,413 (GRCm39)	I365T	probably damaging	Het
Dgcr8	T	C	16: 18,102,274 (GRCm39)	T3A	probably damaging	Het
Dld	A	C	12: 31,394,847 (GRCm39)	I58S	probably damaging	Het
Dlg5	T	A	14: 24,240,506 (GRCm39)	R248S	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Faf1	C	T	4: 109,719,012 (GRCm39)	L373F	probably damaging	Het
Fam171b	C	T	2: 83,707,042 (GRCm39)	T304I	probably benign	Het
Fcgrt	A	T	7: 44,751,622 (GRCm39)		probably null	Het
Gimap9	T	C	6: 48,655,285 (GRCm39)	W291R	probably damaging	Het
Gm4847	G	A	1: 166,457,892 (GRCm39)	A487V	probably damaging	Het
Gria4	T	A	9: 4,420,199 (GRCm39)	I888F	probably benign	Het
Hapln2	T	A	3: 87,930,600 (GRCm39)	I224F	probably damaging	Het
Herc1	T	G	9: 66,283,663 (GRCm39)	L332R	possibly damaging	Het
Hmgxb4	T	C	8: 75,749,927 (GRCm39)	V481A	probably benign	Het
Htr1d	T	C	4: 136,170,109 (GRCm39)	S113P	probably damaging	Het
Ift81	T	C	5: 122,689,163 (GRCm39)	Q651R	probably benign	Het
Il17ra	T	C	6: 120,452,234 (GRCm39)	S199P	probably damaging	Het
Itih2	T	C	2: 10,103,318 (GRCm39)	N723S	probably benign	Het
Jak1	A	T	4: 101,032,325 (GRCm39)	V427E	probably damaging	Het
Krt23	C	T	11: 99,376,584 (GRCm39)	D191N	probably damaging	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Lrrc37a	G	T	11: 103,392,042 (GRCm39)	Q1128K	possibly damaging	Het
Lrrc74a	T	C	12: 86,783,263 (GRCm39)	V36A	probably benign	Het
M1ap	T	A	6: 82,980,877 (GRCm39)	D254E	possibly damaging	Het
Mal2	C	T	15: 54,434,794 (GRCm39)		probably benign	Het
Mbnl2	A	G	14: 120,622,833 (GRCm39)	T124A	probably benign	Het
Nfatc1	A	G	18: 80,755,885 (GRCm39)	S33P	probably benign	Het
Nfkbid	A	G	7: 30,125,162 (GRCm39)	N253S	probably damaging	Het
Ngfr	T	A	11: 95,465,267 (GRCm39)	I194F	probably benign	Het
Nhsl1	A	G	10: 18,345,789 (GRCm39)		probably benign	Het
Nol9	T	A	4: 152,125,691 (GRCm39)	I214N	possibly damaging	Het
Or1o3	A	G	17: 37,573,635 (GRCm39)	S307P	probably benign	Het
Or5p56	T	C	7: 107,590,307 (GRCm39)	L245P	probably damaging	Het
Or8k3	T	A	2: 86,058,578 (GRCm39)	T246S	possibly damaging	Het
Pax3	C	T	1: 78,169,186 (GRCm39)	S160N	possibly damaging	Het
Pde3b	A	G	7: 114,122,267 (GRCm39)		probably null	Het
Pde5a	A	C	3: 122,522,956 (GRCm39)	E21A	probably benign	Het
Plcxd1	A	G	5: 110,250,469 (GRCm39)	E270G	probably damaging	Het
Plxna1	T	A	6: 89,333,586 (GRCm39)	K348*	probably null	Het
Pramel34	A	T	5: 93,785,937 (GRCm39)	N114K	probably benign	Het
Prb1b	T	A	6: 132,289,692 (GRCm39)	H44L	unknown	Het
Psg21	G	T	7: 18,388,926 (GRCm39)	D55E	possibly damaging	Het
Rasa1	C	A	13: 85,381,814 (GRCm39)	A493S	probably benign	Het
Raver2	A	G	4: 100,990,814 (GRCm39)	I396V	probably benign	Het
Rpa2	A	G	4: 132,502,331 (GRCm39)	K138E	probably benign	Het
Rsad1	T	C	11: 94,439,062 (GRCm39)	N133D	probably damaging	Het
Rusc1	T	C	3: 88,999,188 (GRCm39)	D198G	probably benign	Het
Samsn1	A	T	16: 75,667,803 (GRCm39)	Y258N	probably damaging	Het
Scap	A	G	9: 110,203,135 (GRCm39)	N270D	probably benign	Het
Shisal2a	A	T	4: 108,225,052 (GRCm39)	I170N	probably damaging	Het
Smpd4	T	C	16: 17,449,877 (GRCm39)	Y200H	probably damaging	Het
Steap2	A	G	5: 5,725,881 (GRCm39)	V381A	probably damaging	Het
Syk	C	T	13: 52,765,089 (GRCm39)	T72I	probably damaging	Het
Tbc1d14	T	C	5: 36,729,228 (GRCm39)	D66G	possibly damaging	Het
Tcp11	A	G	17: 28,290,691 (GRCm39)	Y223H	probably benign	Het
Timm9	A	G	12: 71,173,124 (GRCm39)	S8P	probably benign	Het
Tmpo	T	C	10: 91,000,069 (GRCm39)		probably null	Het
Vezf1	T	C	11: 87,967,012 (GRCm39)	M81T	probably benign	Het
Vipr1	T	A	9: 121,493,719 (GRCm39)	W257R	probably damaging	Het
Vmn1r237	G	A	17: 21,534,556 (GRCm39)	G93D	probably damaging	Het
Vmn2r6	A	G	3: 64,445,424 (GRCm39)	V678A	probably benign	Het
Vmn2r85	T	C	10: 130,261,330 (GRCm39)	T336A	possibly damaging	Het
Xpnpep3	C	A	15: 81,322,300 (GRCm39)	D296E	probably benign	Het
Zfp35	C	A	18: 24,137,118 (GRCm39)	H487Q	probably benign	Het
Zfp606	A	T	7: 12,227,928 (GRCm39)	Y625F	probably damaging	Het
Zfp677	A	G	17: 21,617,530 (GRCm39)	T196A	possibly damaging	Het
Zmym1	T	C	4: 126,941,677 (GRCm39)	I904V	probably damaging	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
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
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'- ACACCTGGCACCTGAGTTTG -3'
(R):5'- GCATTCTCCAGTTGCTTTGG -3'

Sequencing Primer
(F):5'- GTGTATACACGTGCATGCATATG -3'
(R):5'- CCAGTTGCTTTGGAGGAAGAG -3'

Posted On

2018-02-27