Mutagenetix > Incidental Mutations

Incidental Mutation 'R7233:Lats2'

580592

Institutional Source

Beutler Lab

Gene Symbol

Lats2

Ensembl Gene

ENSMUSG00000021959

Gene Name

large tumor suppressor 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57689662-57758388 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 57722694 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022531] [ENSMUST00000038381] [ENSMUST00000038381] [ENSMUST00000077981] [ENSMUST00000173990] [ENSMUST00000174166] [ENSMUST00000174213] [ENSMUST00000174694]

Predicted Effect

probably benign
Transcript: ENSMUST00000022531

SMART Domains

Protein: ENSMUSP00000022531
Gene: ENSMUSG00000021959

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	138	3e-20	PDB
low complexity region	210	223	N/A	INTRINSIC
low complexity region	401	408	N/A	INTRINSIC
low complexity region	437	444	N/A	INTRINSIC
low complexity region	471	482	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
S_TKc	626	931	2.94e-94	SMART
S_TK_X	932	1002	1.21e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000038381

Predicted Effect

probably null
Transcript: ENSMUST00000038381

Predicted Effect

probably benign
Transcript: ENSMUST00000077981

Predicted Effect

probably benign
Transcript: ENSMUST00000173990

SMART Domains

Protein: ENSMUSP00000133976
Gene: ENSMUSG00000021959

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	138	8e-22	PDB
low complexity region	210	223	N/A	INTRINSIC
low complexity region	401	408	N/A	INTRINSIC
low complexity region	437	444	N/A	INTRINSIC
low complexity region	471	482	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
S_TKc	626	893	7.75e-71	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174166

SMART Domains

Protein: ENSMUSP00000133379
Gene: ENSMUSG00000021959

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	114	5e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000174213

SMART Domains

Protein: ENSMUSP00000134321
Gene: ENSMUSG00000021959

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	114	2e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000174694

SMART Domains

Protein: ENSMUSP00000133680
Gene: ENSMUSG00000114942

Domain	Start	End	E-Value	Type
PDB:2COS\|A	91	138	7e-22	PDB
low complexity region	210	223	N/A	INTRINSIC
low complexity region	401	408	N/A	INTRINSIC
low complexity region	437	444	N/A	INTRINSIC
low complexity region	471	482	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
Pfam:Pkinase	626	792	2.2e-38	PFAM
Pfam:Pkinase_Tyr	626	795	2.8e-21	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality with decreased cell proliferation, chromosomal instability, atrial hyperplasia, ventricular hypoplasia, delayed embryonic development, an irregular kinked neural tube, and hemorrhages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
8030462N17Rik	C	A	18: 77,635,186	V385F	probably damaging	Het
Acox3	A	G	5: 35,605,297	K505R	probably benign	Het
Arhgap24	A	G	5: 102,878,501	K263E	probably benign	Het
Armc2	A	T	10: 41,923,804	V686D	probably damaging	Het
Bhmt	T	A	13: 93,621,517	K229*	probably null	Het
Birc2	A	T	9: 7,827,008	C326S	probably damaging	Het
Blzf1	A	T	1: 164,295,943		probably null	Het
Camsap3	T	A	8: 3,600,371	F223Y	probably damaging	Het
Ccdc126	C	T	6: 49,339,841	T85M	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ces2h	T	A	8: 105,017,456	C279S	probably damaging	Het
Cfap44	T	A	16: 44,422,408	L725Q	probably damaging	Het
Clip1	T	C	5: 123,611,859	E987G	probably damaging	Het
Cog1	G	T	11: 113,649,730	R57L	probably damaging	Het
Ctdspl	T	C	9: 119,020,046		probably null	Het
Dnttip2	T	C	3: 122,276,390	V418A	probably benign	Het
Dopey1	G	A	9: 86,521,696	A186T	probably benign	Het
Engase	T	A	11: 118,483,001	V323E	probably damaging	Het
Fam92b	A	G	8: 120,171,922	L131P	probably damaging	Het
Farsb	A	G	1: 78,471,081		probably null	Het
Fpr2	G	T	17: 17,893,504	W254L	probably damaging	Het
Frmd3	A	C	4: 74,013,786	H6P	probably benign	Het
Fscn1	C	T	5: 142,970,274	S366L	possibly damaging	Het
Galt	T	A	4: 41,758,267	I344N	probably benign	Het
Gfra4	A	T	2: 131,041,117	V194E	probably damaging	Het
Gm11639	T	C	11: 104,839,843	S1966P	possibly damaging	Het
Gm11756	G	T	4: 73,917,571	L219M	probably benign	Het
Gm3139	A	T	5: 94,537,665	M395L	probably benign	Het
Golgb1	T	C	16: 36,914,758	S1497P	possibly damaging	Het
Igfn1	A	C	1: 135,970,135	S898A	probably benign	Het
Igkv1-135	T	C	6: 67,610,348	S68P	probably benign	Het
Lama2	A	T	10: 27,231,663	C784S	probably damaging	Het
Lars2	G	T	9: 123,411,954	G229*	probably null	Het
Lgr6	A	C	1: 135,000,476		probably null	Het
Lrp1	A	T	10: 127,595,061	I373N	probably damaging	Het
Maml2	A	T	9: 13,620,771	H427L		Het
Mansc1	A	G	6: 134,621,843	V37A	probably damaging	Het
Map4k3	A	G	17: 80,597,648	V738A	possibly damaging	Het
Mastl	A	G	2: 23,133,658	I351T	probably benign	Het
Mcmdc2	T	G	1: 9,932,183		probably null	Het
Mrgprd	A	G	7: 145,321,935	D181G	possibly damaging	Het
Msra	T	C	14: 64,123,265	Y209C	probably damaging	Het
Musk	A	G	4: 58,373,307	E759G	possibly damaging	Het
Nab1	T	C	1: 52,459,219	*487W	probably null	Het
Olfr373	A	G	8: 72,100,056	T99A	probably benign	Het
Olfr490	T	A	7: 108,286,716	T137S	probably benign	Het
Pkdrej	A	G	15: 85,821,148	S196P	probably damaging	Het
Pln	A	G	10: 53,343,912	T17A	probably damaging	Het
Polrmt	A	T	10: 79,745,785		probably null	Het
Ppp1r14a	T	A	7: 29,289,524	Y64N	probably damaging	Het
Ppp1r9a	A	T	6: 5,134,804	H959L	probably benign	Het
Prmt7	A	G	8: 106,220,010	T75A	probably damaging	Het
Prom1	T	C	5: 44,037,474	S319G	possibly damaging	Het
Prtg	G	A	9: 72,911,991	G1089S	probably benign	Het
Ptprd	T	C	4: 76,059,783	D596G	probably benign	Het
Rbm12	C	T	2: 156,095,974	G793S	unknown	Het
Rora	A	T	9: 69,197,522	R43*	probably null	Het
Sez6	T	C	11: 77,973,137	Y482H	probably damaging	Het
Skint2	A	T	4: 112,625,925	N176Y	probably damaging	Het
Slc44a2	G	T	9: 21,348,149		probably null	Het
Sox6	A	G	7: 115,489,809	V606A	possibly damaging	Het
Spa17	T	C	9: 37,603,291		probably null	Het
Syne1	A	C	10: 5,302,160	L2498R	probably damaging	Het
Synpo2	T	G	3: 123,117,684	H104P	probably benign	Het
Tapbp	G	T	17: 33,919,969	A46S	probably damaging	Het
Tbc1d30	C	A	10: 121,272,057	R480L	probably benign	Het
Tshz1	T	C	18: 84,014,819	D488G	possibly damaging	Het
Ulk1	A	G	5: 110,809,042	L70P	probably damaging	Het
Zcchc17	T	A	4: 130,327,323	D145V	probably damaging	Het
Zfp318	T	A	17: 46,406,052	L1037M	probably damaging	Het
Zfp324	C	T	7: 12,970,597	Q238*	probably null	Het
Zfp874a	A	G	13: 67,442,657	Y303H	possibly damaging	Het
Zfp975	T	C	7: 42,662,494	K232E	probably benign	Het
Zfp982	T	A	4: 147,513,261	N358K	probably benign	Het
Zmiz1	C	T	14: 25,649,668	P417S	possibly damaging	Het

Other mutations in Lats2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Lats2	APN	14	57691569	missense	probably benign	0.09
IGL02104:Lats2	APN	14	57734012	missense	probably damaging	1.00
IGL02173:Lats2	APN	14	57697260	missense	probably damaging	1.00
IGL02377:Lats2	APN	14	57691595	missense	probably damaging	1.00
IGL02995:Lats2	APN	14	57700348	missense	probably damaging	1.00
R6846_Lats2_781	UTSW	14	57696134	missense	probably damaging	1.00
PIT4472001:Lats2	UTSW	14	57699357	nonsense	probably null
R0653:Lats2	UTSW	14	57700196	nonsense	probably null
R0780:Lats2	UTSW	14	57691296	missense	probably damaging	1.00
R1129:Lats2	UTSW	14	57700333	missense	possibly damaging	0.71
R1851:Lats2	UTSW	14	57697455	missense	probably damaging	1.00
R1882:Lats2	UTSW	14	57697354	missense	probably damaging	1.00
R2184:Lats2	UTSW	14	57691559	missense	probably damaging	0.99
R3498:Lats2	UTSW	14	57722466	missense	possibly damaging	0.95
R3692:Lats2	UTSW	14	57691541	missense	probably damaging	1.00
R4212:Lats2	UTSW	14	57696255	missense	possibly damaging	0.82
R4357:Lats2	UTSW	14	57699383	missense	probably damaging	1.00
R4962:Lats2	UTSW	14	57699592	missense	probably damaging	1.00
R5394:Lats2	UTSW	14	57691353	missense	probably benign	0.10
R5477:Lats2	UTSW	14	57699553	missense	probably benign	0.00
R5729:Lats2	UTSW	14	57722735	missense	probably benign	0.04
R5802:Lats2	UTSW	14	57694418	missense	probably damaging	0.99
R5931:Lats2	UTSW	14	57696131	missense	probably damaging	1.00
R6016:Lats2	UTSW	14	57734175	missense	probably damaging	1.00
R6376:Lats2	UTSW	14	57722509	missense	probably benign	0.00
R6624:Lats2	UTSW	14	57694312	critical splice donor site	probably null
R6638:Lats2	UTSW	14	57699365	missense	probably damaging	1.00
R6846:Lats2	UTSW	14	57696134	missense	probably damaging	1.00
R7198:Lats2	UTSW	14	57697125	missense	probably damaging	1.00
R7883:Lats2	UTSW	14	57697200	missense	probably damaging	1.00
R8081:Lats2	UTSW	14	57700511	missense	probably damaging	1.00
R8356:Lats2	UTSW	14	57697410	missense	probably damaging	1.00
R8508:Lats2	UTSW	14	57722705	missense	probably benign	0.08
R8536:Lats2	UTSW	14	57703038	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATCAAGCCCTAGTATTATGGAC -3'
(R):5'- TAACAGAGGGATGGTGGCTTC -3'

Sequencing Primer
(F):5'- TCCGTGCTTCAGGTACAAG -3'
(R):5'- GACAGTCTGTGCCCTTAACTATGAG -3'

Posted On

2019-10-10