Mutagenetix > Incidental Mutation

Incidental Mutation 'R9643:Lats2'

726684

Institutional Source

Beutler Lab

Gene Symbol

Lats2

Ensembl Gene

ENSMUSG00000021959

Gene Name

large tumor suppressor 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9643 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57927119-57983669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57936875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 538 (V538A)

Ref Sequence

ENSEMBL: ENSMUSP00000022531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022531] [ENSMUST00000173964] [ENSMUST00000173990] [ENSMUST00000174166] [ENSMUST00000174213] [ENSMUST00000174694]

AlphaFold

Q7TSJ6

PDB Structure

Solution structure of RSGI RUH-038, a UBA domain from Mouse LATS2 (Large Tumor Suppressor homolog 2) [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022531
AA Change: V538A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022531
Gene: ENSMUSG00000021959
AA Change: V538A

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: ENSMUST00000173964
AA Change: V158A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134142
Gene: ENSMUSG00000021959
AA Change: V158A

Domain	Start	End	E-Value	Type
low complexity region	21	28	N/A	INTRINSIC
low complexity region	57	64	N/A	INTRINSIC
low complexity region	91	102	N/A	INTRINSIC
low complexity region	137	149	N/A	INTRINSIC
Pfam:Pkinase	233	288	2.3e-5	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173990
AA Change: V538A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133976
Gene: ENSMUSG00000021959
AA Change: V538A

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

possibly damaging
Transcript: ENSMUST00000174694
AA Change: V538A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133680
Gene: ENSMUSG00000114942
AA Change: V538A

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: 99.7%
20x: 99.1%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,211,189 (GRCm39)	D641G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,092,666 (GRCm39)	E272G	unknown	Het
Abca16	C	T	7: 120,065,023 (GRCm39)	T560I	possibly damaging	Het
Adcy3	A	G	12: 4,259,455 (GRCm39)	R911G	probably damaging	Het
Adgra2	A	G	8: 27,612,031 (GRCm39)	T1327A	possibly damaging	Het
Aldh9a1	T	C	1: 167,184,904 (GRCm39)	V272A	possibly damaging	Het
Ankfn1	T	A	11: 89,396,167 (GRCm39)	H193L	probably benign	Het
Asb1	A	G	1: 91,480,116 (GRCm39)	R280G	probably benign	Het
Atg14	G	T	14: 47,788,780 (GRCm39)	A191E	probably damaging	Het
Bcl9	G	T	3: 97,112,960 (GRCm39)	P1165Q	possibly damaging	Het
Cdk8	G	A	5: 146,235,664 (GRCm39)	A264T	probably damaging	Het
Cep152	G	A	2: 125,406,150 (GRCm39)	Q1461*	probably null	Het
Cep170b	G	T	12: 112,704,045 (GRCm39)	W659L	probably damaging	Het
Cep57l1	T	C	10: 41,597,626 (GRCm39)	E335G	probably damaging	Het
Cpt1b	T	A	15: 89,303,229 (GRCm39)	T609S	possibly damaging	Het
Cyp2c50	A	T	19: 40,086,512 (GRCm39)	I359F	probably damaging	Het
Dpf1	T	A	7: 29,013,742 (GRCm39)	N272K	probably damaging	Het
Fsip2	A	G	2: 82,821,984 (GRCm39)	T5906A	possibly damaging	Het
Gin1	A	T	1: 97,712,498 (GRCm39)	R220S	probably benign	Het
Gm30083	T	C	14: 33,736,861 (GRCm39)	Y32C	probably benign	Het
Gm45861	A	G	8: 27,994,083 (GRCm39)	E445G	unknown	Het
Golga2	T	C	2: 32,193,874 (GRCm39)	S567P	probably damaging	Het
Gpr89	A	G	3: 96,780,813 (GRCm39)	V353A	probably damaging	Het
Grin2d	T	C	7: 45,506,948 (GRCm39)	K509R	possibly damaging	Het
Hip1r	T	C	5: 124,139,319 (GRCm39)	I904T	probably damaging	Het
Ikbke	T	A	1: 131,187,022 (GRCm39)		probably null	Het
Il1r1	T	A	1: 40,341,532 (GRCm39)	C315S	probably damaging	Het
Ireb2	T	A	9: 54,789,730 (GRCm39)	F135I	possibly damaging	Het
Jakmip3	C	T	7: 138,621,915 (GRCm39)	L272F	probably damaging	Het
Kntc1	T	A	5: 123,949,440 (GRCm39)	F1937Y	probably damaging	Het
Krtap4-16	G	A	11: 99,742,271 (GRCm39)	T43I	unknown	Het
Megf8	T	A	7: 25,046,907 (GRCm39)	W1597R	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mtus2	A	T	5: 148,014,025 (GRCm39)	T273S	probably benign	Het
Nsun6	T	A	2: 15,047,106 (GRCm39)	E81D	probably benign	Het
Or13c7	G	A	4: 43,855,183 (GRCm39)	M291I	probably benign	Het
Or4c125	A	T	2: 89,170,517 (GRCm39)	I43K	probably damaging	Het
Or56a41	A	G	7: 104,740,445 (GRCm39)	F134L	probably benign	Het
Or8c10	A	G	9: 38,278,912 (GRCm39)	I13M	probably damaging	Het
Or8k23	A	G	2: 86,186,408 (GRCm39)	F106S	probably benign	Het
Oxsm	T	C	14: 16,241,000 (GRCm38)	T350A	probably damaging	Het
Pard3	G	A	8: 128,115,900 (GRCm39)	R663Q	possibly damaging	Het
Pcdh15	T	A	10: 74,479,335 (GRCm39)	I482N	probably benign	Het
Pcsk2	G	A	2: 143,655,501 (GRCm39)	D562N	probably damaging	Het
Pdzk1ip1	T	C	4: 114,950,177 (GRCm39)	M146T	probably benign	Het
Plch1	T	A	3: 63,660,747 (GRCm39)	T279S		Het
Plec	C	T	15: 76,058,177 (GRCm39)	R3920Q	probably damaging	Het
Polr2g	A	T	19: 8,774,631 (GRCm39)	V84E	probably damaging	Het
Ppm1m	C	T	9: 106,075,104 (GRCm39)	R147H	probably damaging	Het
Ppp2r2c	G	T	5: 37,080,383 (GRCm39)	V48L	probably damaging	Het
Pramel25	T	A	4: 143,521,855 (GRCm39)	C490*	probably null	Het
Prcp	A	T	7: 92,524,598 (GRCm39)	T18S	probably benign	Het
Rapsn	A	G	2: 90,872,268 (GRCm39)	S201G	probably damaging	Het
Rragd	A	G	4: 33,012,998 (GRCm39)	T332A	probably benign	Het
Scrn2	A	G	11: 96,921,342 (GRCm39)	D34G	probably damaging	Het
Serpinb6c	T	C	13: 34,079,303 (GRCm39)	T130A	probably benign	Het
Setd1b	G	A	5: 123,298,401 (GRCm39)	G1479D	probably damaging	Het
Shd	T	A	17: 56,283,268 (GRCm39)	L299Q	probably damaging	Het
Slc5a4b	C	T	10: 75,945,896 (GRCm39)	V55I	probably benign	Het
Smg1	C	A	7: 117,755,933 (GRCm39)	R2405L	unknown	Het
Stxbp2	A	T	8: 3,686,392 (GRCm39)	M332L		Het
Tedc2	A	G	17: 24,435,328 (GRCm39)	C354R	probably benign	Het
Tek	A	T	4: 94,692,523 (GRCm39)	R210S	possibly damaging	Het
Tnk2	T	A	16: 32,489,018 (GRCm39)	M286K	probably damaging	Het
Ttc21a	G	A	9: 119,771,686 (GRCm39)	V162I	probably benign	Het
Usf3	T	A	16: 44,042,170 (GRCm39)	C2217S	possibly damaging	Het
Wdr72	C	T	9: 74,118,041 (GRCm39)	P930S	probably damaging	Het
Zan	A	G	5: 137,456,812 (GRCm39)	V1308A	unknown	Het
Zfp521	C	T	18: 13,978,922 (GRCm39)	R497Q	probably damaging	Het
Zfp799	T	A	17: 33,039,435 (GRCm39)	K277M	probably damaging	Het
Zfp949	C	T	9: 88,436,500 (GRCm39)		probably benign	Het

Other mutations in Lats2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Lats2	APN	14	57,929,026 (GRCm39)	missense	probably benign	0.09
IGL02104:Lats2	APN	14	57,971,469 (GRCm39)	missense	probably damaging	1.00
IGL02173:Lats2	APN	14	57,934,717 (GRCm39)	missense	probably damaging	1.00
IGL02377:Lats2	APN	14	57,929,052 (GRCm39)	missense	probably damaging	1.00
IGL02995:Lats2	APN	14	57,937,805 (GRCm39)	missense	probably damaging	1.00
Morpheus	UTSW	14	57,933,591 (GRCm39)	missense	probably damaging	1.00
PIT4472001:Lats2	UTSW	14	57,936,814 (GRCm39)	nonsense	probably null
R0653:Lats2	UTSW	14	57,937,653 (GRCm39)	nonsense	probably null
R0780:Lats2	UTSW	14	57,928,753 (GRCm39)	missense	probably damaging	1.00
R1129:Lats2	UTSW	14	57,937,790 (GRCm39)	missense	possibly damaging	0.71
R1851:Lats2	UTSW	14	57,934,912 (GRCm39)	missense	probably damaging	1.00
R1882:Lats2	UTSW	14	57,934,811 (GRCm39)	missense	probably damaging	1.00
R2184:Lats2	UTSW	14	57,929,016 (GRCm39)	missense	probably damaging	0.99
R3498:Lats2	UTSW	14	57,959,923 (GRCm39)	missense	possibly damaging	0.95
R3692:Lats2	UTSW	14	57,928,998 (GRCm39)	missense	probably damaging	1.00
R4212:Lats2	UTSW	14	57,933,712 (GRCm39)	missense	possibly damaging	0.82
R4357:Lats2	UTSW	14	57,936,840 (GRCm39)	missense	probably damaging	1.00
R4962:Lats2	UTSW	14	57,937,049 (GRCm39)	missense	probably damaging	1.00
R5394:Lats2	UTSW	14	57,928,810 (GRCm39)	missense	probably benign	0.10
R5477:Lats2	UTSW	14	57,937,010 (GRCm39)	missense	probably benign	0.00
R5729:Lats2	UTSW	14	57,960,192 (GRCm39)	missense	probably benign	0.04
R5802:Lats2	UTSW	14	57,931,875 (GRCm39)	missense	probably damaging	0.99
R5931:Lats2	UTSW	14	57,933,588 (GRCm39)	missense	probably damaging	1.00
R6016:Lats2	UTSW	14	57,971,632 (GRCm39)	missense	probably damaging	1.00
R6376:Lats2	UTSW	14	57,959,966 (GRCm39)	missense	probably benign	0.00
R6624:Lats2	UTSW	14	57,931,769 (GRCm39)	critical splice donor site	probably null
R6638:Lats2	UTSW	14	57,936,822 (GRCm39)	missense	probably damaging	1.00
R6846:Lats2	UTSW	14	57,933,591 (GRCm39)	missense	probably damaging	1.00
R7198:Lats2	UTSW	14	57,934,582 (GRCm39)	missense	probably damaging	1.00
R7233:Lats2	UTSW	14	57,960,151 (GRCm39)	splice site	probably null
R7883:Lats2	UTSW	14	57,934,657 (GRCm39)	missense	probably damaging	1.00
R8081:Lats2	UTSW	14	57,937,968 (GRCm39)	missense	probably damaging	1.00
R8356:Lats2	UTSW	14	57,934,867 (GRCm39)	missense	probably damaging	1.00
R8508:Lats2	UTSW	14	57,960,162 (GRCm39)	missense	probably benign	0.08
R8536:Lats2	UTSW	14	57,940,495 (GRCm39)	missense	probably damaging	1.00
R8767:Lats2	UTSW	14	57,931,781 (GRCm39)	missense	probably damaging	1.00
R9579:Lats2	UTSW	14	57,937,191 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGTTAGCAGGGTCCTCATC -3'
(R):5'- CCAGTAAGTCTGAGCAGTACAG -3'

Sequencing Primer
(F):5'- CTGACGGTGGCTGCTACATAG -3'
(R):5'- TCTGAGCAGTACAGCGTGGAC -3'

Posted On

2022-10-06