Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Lats2'

473749

Institutional Source

Beutler Lab

Gene Symbol

Lats2

Ensembl Gene

ENSMUSG00000021959

Gene Name

large tumor suppressor 2

Synonyms

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57689662-57758388 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 57722466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 191 (A191E)

Ref Sequence

ENSEMBL: ENSMUSP00000038982 (fasta)

Gene Model

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

AlphaFold

Q7TSJ6

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

possibly damaging
Transcript: ENSMUST00000038381
AA Change: A191E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

unknown
Transcript: ENSMUST00000077981
AA Change: A142E

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: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
A3galt2	T	C	4: 128,755,557	F6L	probably benign	Het
Aurkc	A	G	7: 7,000,030	I175V	probably damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bcat1	A	G	6: 145,019,342	V45A	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Ddx42	A	G	11: 106,231,193	E178G	possibly damaging	Het
Dmpk	T	C	7: 19,086,381	I101T	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Fosb	C	T	7: 19,306,632	R161H	probably damaging	Het
Gm6729	T	C	10: 86,540,718		noncoding transcript	Het
Gnb1	T	A	4: 155,555,026	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Ighe	G	A	12: 113,271,374	Q389*	probably null	Het
Kcnj11	T	C	7: 46,099,602	D23G	probably damaging	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Map4	G	T	9: 110,035,212	V502L	probably benign	Het
Mgat5	A	G	1: 127,384,834	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,216,525	R68G	probably benign	Het
Nell1	T	A	7: 50,258,179	V362E	possibly damaging	Het
Olfr1031	T	A	2: 85,992,430	F204L	probably benign	Het
Olfr792	T	A	10: 129,540,909	I124N	probably damaging	Het
P4ha2	T	C	11: 54,119,253	Y279H	probably benign	Het
Pcid2	A	G	8: 13,100,413	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,122,770	I116T	probably benign	Het
Prdm9	A	G	17: 15,562,945		probably benign	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sde2	T	A	1: 180,858,185	C101S	probably damaging	Het
Sec1	T	C	7: 45,679,239	H128R	probably damaging	Het
Serpinb6a	A	T	13: 33,918,781	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,313,973	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,992,053	K328N	probably benign	Het
Slc24a4	A	T	12: 102,234,692	K278N	probably benign	Het
Slc6a21	T	A	7: 45,280,842	W222R	probably damaging	Het
Slc7a2	A	G	8: 40,912,530	E466G	probably benign	Het
Sspo	A	G	6: 48,467,980	T2133A	possibly damaging	Het
Taco1	A	G	11: 106,072,538	M172V	probably benign	Het
Tmem127	T	A	2: 127,256,120	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Vac14	A	G	8: 110,671,090	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,835,242	K162I	probably benign	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
Morpheus	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
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
R7233:Lats2	UTSW	14	57722694	splice site	probably null
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
R8767:Lats2	UTSW	14	57694324	missense	probably damaging	1.00
R9579:Lats2	UTSW	14	57699734	missense	probably damaging	1.00
R9643:Lats2	UTSW	14	57699418	missense	possibly damaging	0.94

Predicted Primers

Posted On

2017-04-14