Mutagenetix > Incidental Mutation

Incidental Mutation 'R9651:Llgl2'

727124

Institutional Source

Beutler Lab

Gene Symbol

Llgl2

Ensembl Gene

ENSMUSG00000020782

Gene Name

LLGL2 scribble cell polarity complex component

Synonyms

9130006H11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

R9651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115714875-115746606 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 115742941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103032] [ENSMUST00000177736]

AlphaFold

Q3TJ91

Predicted Effect

probably null
Transcript: ENSMUST00000103032

SMART Domains

Protein: ENSMUSP00000099321
Gene: ENSMUSG00000020782

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: ENSMUST00000128826

Predicted Effect

probably benign
Transcript: ENSMUST00000177736

SMART Domains

Protein: ENSMUSP00000136054
Gene: ENSMUSG00000020782

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: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	C	8: 106,436,604 (GRCm39)	S267P		Het
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abca13	A	G	11: 9,535,484 (GRCm39)	S4703G	probably benign	Het
Abca9	A	T	11: 110,006,319 (GRCm39)	M1262K	probably benign	Het
Acta1	A	T	8: 124,619,431 (GRCm39)	Y220*	probably null	Het
Actr6	A	G	10: 89,564,877 (GRCm39)	V24A	probably damaging	Het
Adam30	T	C	3: 98,069,936 (GRCm39)	Y590H	possibly damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Ankle2	A	G	5: 110,385,661 (GRCm39)	I337V	probably benign	Het
Arid2	T	C	15: 96,256,822 (GRCm39)	V220A	probably benign	Het
Atp8b2	T	C	3: 89,865,603 (GRCm39)	D99G	probably damaging	Het
Baz1b	A	T	5: 135,252,022 (GRCm39)	H940L	probably benign	Het
Cacna1d	C	T	14: 29,764,881 (GRCm39)	V2017I	probably benign	Het
Ccn1	G	T	3: 145,354,583 (GRCm39)	N109K	probably damaging	Het
Cd226	T	A	18: 89,265,395 (GRCm39)	C224*	probably null	Het
Cdrt4	T	A	11: 62,883,466 (GRCm39)	I56N	possibly damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cryz	A	G	3: 154,327,765 (GRCm39)	Q289R	probably benign	Het
Csn1s2b	T	A	5: 87,968,820 (GRCm39)	M94K	probably benign	Het
Ctnnd1	T	C	2: 84,439,899 (GRCm39)	K804E	possibly damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dffa	A	G	4: 149,190,674 (GRCm39)	T68A	probably damaging	Het
Dnah2	C	T	11: 69,341,824 (GRCm39)		probably null	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Epn3	C	T	11: 94,383,687 (GRCm39)		probably null	Het
Fem1c	A	T	18: 46,657,674 (GRCm39)	D13E		Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fpr2	T	A	17: 18,113,484 (GRCm39)	I160N	probably benign	Het
Gabra1	A	G	11: 42,045,853 (GRCm39)	Y86H	probably damaging	Het
Gabrb3	T	C	7: 57,415,202 (GRCm39)	Y91H	probably damaging	Het
Gcn1	T	C	5: 115,747,665 (GRCm39)		probably null	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gpr152	T	G	19: 4,192,614 (GRCm39)	W52G	probably damaging	Het
Hsd17b12	A	G	2: 93,988,081 (GRCm39)	V45A	probably benign	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Il16	T	A	7: 83,332,064 (GRCm39)	N172I	probably damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Lama1	T	C	17: 68,101,215 (GRCm39)	S1903P		Het
Mical1	A	T	10: 41,362,022 (GRCm39)		probably null	Het
Muc2	C	T	7: 141,288,014 (GRCm39)	P262S	probably damaging	Het
Myo9a	A	G	9: 59,778,764 (GRCm39)	R1507G	probably damaging	Het
Ndst1	G	A	18: 60,833,539 (GRCm39)	H491Y	probably damaging	Het
Nfasc	T	C	1: 132,527,791 (GRCm39)	T872A	probably benign	Het
Nipal3	A	T	4: 135,174,634 (GRCm39)	C372*	probably null	Het
Nmrk1	A	G	19: 18,616,929 (GRCm39)	H26R	probably benign	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Or2m12	C	T	16: 19,105,489 (GRCm39)	M1I	probably null	Het
Or51d1	T	A	7: 102,347,832 (GRCm39)	M129K	probably damaging	Het
Or5au1	T	C	14: 52,273,205 (GRCm39)	D121G	probably damaging	Het
Or5b102	T	G	19: 13,041,256 (GRCm39)	D160E	probably benign	Het
P2ry12	T	C	3: 59,134,931 (GRCm39)		probably benign	Het
Pax8	T	A	2: 24,331,173 (GRCm39)	D174V	probably damaging	Het
Pbxip1	A	G	3: 89,352,795 (GRCm39)	D147G	probably damaging	Het
Pnpla7	T	C	2: 24,892,931 (GRCm39)	S451P	probably benign	Het
Polm	A	G	11: 5,781,732 (GRCm39)	Y255H	probably damaging	Het
Polr1has	C	T	17: 37,276,353 (GRCm39)	Q242*	probably null	Het
Rdh14	T	A	12: 10,441,118 (GRCm39)	C93*	probably null	Het
Rnf213	C	A	11: 119,331,238 (GRCm39)	S2150Y		Het
Rpap1	G	A	2: 119,598,484 (GRCm39)	P1111L	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Sbp	A	G	17: 24,164,419 (GRCm39)	*200W	probably null	Het
Scn10a	A	G	9: 119,439,063 (GRCm39)	M1601T	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc4a1	A	T	11: 102,242,256 (GRCm39)	I821N	probably damaging	Het
Spaca6	T	A	17: 18,057,829 (GRCm39)	D164E	probably benign	Het
Synj1	T	C	16: 90,735,412 (GRCm39)	T1514A	probably benign	Het
Synj1	C	T	16: 90,757,343 (GRCm39)	V902I	possibly damaging	Het
Tctn1	A	G	5: 122,384,576 (GRCm39)	Y443H	probably benign	Het
Thoc5	C	T	11: 4,849,883 (GRCm39)	R25W	possibly damaging	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Trim45	C	T	3: 100,832,705 (GRCm39)	Q313*	probably null	Het
Ubqlnl	T	C	7: 103,799,122 (GRCm39)	D125G	possibly damaging	Het
Ubr4	A	T	4: 139,206,859 (GRCm39)	E4926V	unknown	Het
Usp5	T	C	6: 124,799,501 (GRCm39)	D349G	possibly damaging	Het
Vmn1r25	T	A	6: 57,956,306 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,344,167 (GRCm39)	Q2136R	possibly damaging	Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp712	A	G	13: 67,188,824 (GRCm39)	S568P	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
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
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
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'- CCGTGAAATGCTCGAAGGTC -3'
(R):5'- GCCTATGTGATTTCCCACCG -3'

Sequencing Primer
(F):5'- TCGAAGGTCAGGCAAGTTCTC -3'
(R):5'- ACTTCCTCATGGCAGAGAGC -3'

Posted On

2022-10-06