Mutagenetix > Incidental Mutation

Incidental Mutation 'R5000:Llgl2'

389849

Institutional Source

Beutler Lab

Gene Symbol

Llgl2

Ensembl Gene

ENSMUSG00000020782

Gene Name

LLGL2 scribble cell polarity complex component

Synonyms

9130006H11Rik

MMRRC Submission

042594-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

R5000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115714875-115746606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115735728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

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: V108A

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

SMART Domains

Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782
AA Change: V108A

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: V108A

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

SMART Domains

Protein: ENSMUSP00000118344
Gene: ENSMUSG00000020782
AA Change: V108A

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: V108A

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

SMART Domains

Protein: ENSMUSP00000119675
Gene: ENSMUSG00000020782
AA Change: V108A

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
AA Change: V108A

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

SMART Domains

Protein: ENSMUSP00000117649
Gene: ENSMUSG00000020782
AA Change: V108A

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: V108A

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

SMART Domains

Protein: ENSMUSP00000133790
Gene: ENSMUSG00000020782
AA Change: V108A

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: V108A

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

SMART Domains

Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782
AA Change: V108A

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (97/99)

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
2310022A10Rik	T	A	7: 27,255,946 (GRCm39)	F11Y	probably benign	Het
Abca5	A	G	11: 110,201,050 (GRCm39)	L450P	probably damaging	Het
Abi1	T	A	2: 22,840,211 (GRCm39)	R357W	probably damaging	Het
Acot7	G	A	4: 152,270,820 (GRCm39)	G55R	probably benign	Het
Aicda	G	A	6: 122,538,826 (GRCm39)	V14I	probably damaging	Het
Anxa4	G	T	6: 86,742,766 (GRCm39)		probably benign	Het
Apobr	T	A	7: 126,185,729 (GRCm39)	D413E	possibly damaging	Het
Ash1l	T	C	3: 88,965,941 (GRCm39)	Y2448H	probably damaging	Het
Atf7ip	A	G	6: 136,559,426 (GRCm39)	E749G	probably damaging	Het
Atp8b3	A	T	10: 80,357,676 (GRCm39)	N1114K	possibly damaging	Het
Bdnf	C	A	2: 109,553,993 (GRCm39)	N122K	probably benign	Het
Boc	A	T	16: 44,310,517 (GRCm39)	I801N	probably damaging	Het
Brap	A	T	5: 121,800,089 (GRCm39)	K37*	probably null	Het
Ccar1	C	T	10: 62,586,784 (GRCm39)	E885K	unknown	Het
Ccdc103	A	G	11: 102,774,932 (GRCm39)	N177S	probably benign	Het
Ccdc116	G	A	16: 16,959,657 (GRCm39)	P344L	possibly damaging	Het
Cdca5	T	C	19: 6,135,463 (GRCm39)	S28P	possibly damaging	Het
Ceacam20	T	C	7: 19,699,453 (GRCm39)	I14T	probably damaging	Het
Chrnb1	A	T	11: 69,677,858 (GRCm39)	V298E	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Csnk1a1	T	C	18: 61,711,840 (GRCm39)	F97L	probably damaging	Het
Dag1	A	T	9: 108,085,216 (GRCm39)	S642T	probably benign	Het
Dedd2	A	G	7: 24,903,068 (GRCm39)	V297A	possibly damaging	Het
Dhcr7	C	T	7: 143,395,060 (GRCm39)	T189M	possibly damaging	Het
Dlgap1	T	C	17: 71,073,053 (GRCm39)	S691P	probably damaging	Het
Dmgdh	A	C	13: 93,825,046 (GRCm39)	H123P	probably damaging	Het
Dnah6	C	T	6: 73,121,798 (GRCm39)	V1395I	probably benign	Het
Dnah7a	T	C	1: 53,606,201 (GRCm39)	Y1273C	probably damaging	Het
Dnah7b	T	A	1: 46,138,663 (GRCm39)	L235*	probably null	Het
Elac2	T	C	11: 64,876,379 (GRCm39)	F3L	probably benign	Het
Elovl7	A	T	13: 108,410,915 (GRCm39)	K163N	probably benign	Het
Epg5	T	C	18: 77,997,376 (GRCm39)	V413A	probably benign	Het
Espl1	T	A	15: 102,206,986 (GRCm39)	L150Q	probably damaging	Het
F2rl3	T	A	8: 73,489,307 (GRCm39)	L178Q	probably damaging	Het
Fam120a	T	C	13: 49,051,143 (GRCm39)	E754G	probably damaging	Het
Fam53b	T	C	7: 132,317,730 (GRCm39)	N304S	probably benign	Het
Fbxo41	T	C	6: 85,460,901 (GRCm39)	E269G	probably damaging	Het
Fcrla	T	C	1: 170,749,959 (GRCm39)	T4A	probably benign	Het
Frmpd1	A	T	4: 45,261,931 (GRCm39)		probably null	Het
Gm9376	A	G	14: 118,504,702 (GRCm39)	M45V	probably benign	Het
Gpr68	G	A	12: 100,844,596 (GRCm39)	A316V	probably benign	Het
Hmgcl	G	A	4: 135,689,511 (GRCm39)	C323Y	probably benign	Het
Hnrnpu	T	C	1: 178,156,941 (GRCm39)		probably benign	Het
Ier2	T	A	8: 85,389,353 (GRCm39)	I10F	probably damaging	Het
Ip6k1	C	T	9: 107,922,798 (GRCm39)	Q234*	probably null	Het
Lrfn3	T	C	7: 30,059,805 (GRCm39)	N140S	possibly damaging	Het
Lrig1	T	A	6: 94,588,430 (GRCm39)	H573L	probably damaging	Het
Lrrk2	T	A	15: 91,634,081 (GRCm39)	W1393R	probably damaging	Het
Mrc1	T	A	2: 14,249,000 (GRCm39)	Y179N	probably damaging	Het
Mtfr1	C	T	3: 19,265,743 (GRCm39)	L93F	probably damaging	Het
Muc19	T	C	15: 91,757,429 (GRCm39)		noncoding transcript	Het
Ndst2	C	T	14: 20,774,975 (GRCm39)		probably null	Het
Nmd3	A	T	3: 69,624,735 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,172,593 (GRCm39)	Y784C	probably damaging	Het
Or4a27	A	T	2: 88,559,910 (GRCm39)	I11N	probably damaging	Het
Or7a36	G	A	10: 78,820,514 (GRCm39)	V297I	probably benign	Het
Papln	A	G	12: 83,821,663 (GRCm39)	Y297C	probably damaging	Het
Pdhx	T	C	2: 102,871,385 (GRCm39)		probably null	Het
Pdpk1	T	C	17: 24,330,019 (GRCm39)	T6A	possibly damaging	Het
Prcp	T	C	7: 92,568,368 (GRCm39)	W267R	probably damaging	Het
Prg2	T	C	2: 84,812,367 (GRCm39)	S26P	probably benign	Het
Psg26	A	T	7: 18,214,057 (GRCm39)	Y202N	possibly damaging	Het
Psrc1	T	C	3: 108,287,839 (GRCm39)		probably benign	Het
Rap1gds1	A	T	3: 138,662,011 (GRCm39)	M366K	probably damaging	Het
Robo4	G	T	9: 37,319,664 (GRCm39)	R527L	probably benign	Het
Sel1l3	G	A	5: 53,357,776 (GRCm39)	T72M	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	A	G	5: 12,498,005 (GRCm39)	T4A	probably benign	Het
Shroom1	A	T	11: 53,357,944 (GRCm39)		probably benign	Het
Slc25a19	T	C	11: 115,507,497 (GRCm39)		probably null	Het
Snx29	A	C	16: 11,221,371 (GRCm39)	I266L	probably damaging	Het
Spo11	T	C	2: 172,831,193 (GRCm39)	S255P	probably damaging	Het
Spock3	T	C	8: 63,698,158 (GRCm39)	V167A	possibly damaging	Het
Tmc7	A	G	7: 118,158,077 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,170,743 (GRCm39)	V509A	possibly damaging	Het
Trim24	A	G	6: 37,935,547 (GRCm39)	D880G	probably benign	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr4	T	A	4: 139,163,480 (GRCm39)	C2627S	probably damaging	Het
Unc5d	A	T	8: 29,205,775 (GRCm39)	M512K	possibly damaging	Het
Usp18	A	G	6: 121,229,479 (GRCm39)	R33G	possibly damaging	Het
Utp23	T	A	15: 51,745,569 (GRCm39)	V23D	probably damaging	Het
Wdr17	T	A	8: 55,118,161 (GRCm39)	M512L	possibly damaging	Het
Wdr64	T	A	1: 175,553,941 (GRCm39)		probably null	Het
Zbtb6	T	C	2: 37,319,251 (GRCm39)	T226A	probably benign	Het
Zc3hc1	T	A	6: 30,375,987 (GRCm39)	H191L	possibly damaging	Het
Zdhhc4	C	A	5: 143,310,688 (GRCm39)	C48F	probably damaging	Het
Zfp335	T	A	2: 164,736,588 (GRCm39)	T1016S	probably benign	Het
Zfp583	A	G	7: 6,328,473 (GRCm39)	Y39H	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
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'- CCACAGAGAGCCTTTTGTCC -3'
(R):5'- AGTTCCAGAGCACGAGATGG -3'

Sequencing Primer
(F):5'- TCCTGGGGCTCCTTGAAAAAG -3'
(R):5'- ATGGTGGTAGCCTGAACACTG -3'

Posted On

2016-06-06