Incidental Mutation 'PIT4472001:Lats2'
ID |
555883 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats2
|
Ensembl Gene |
ENSMUSG00000021959 |
Gene Name |
large tumor suppressor 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
PIT4472001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
57927119-57983669 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to C
at 57936814 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 558
(Y558*)
|
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 |
probably null
Transcript: ENSMUST00000022531
AA Change: Y558*
|
SMART Domains |
Protein: ENSMUSP00000022531 Gene: ENSMUSG00000021959 AA Change: Y558*
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: ENSMUST00000173964
AA Change: Y178*
|
SMART Domains |
Protein: ENSMUSP00000134142 Gene: ENSMUSG00000021959 AA Change: Y178*
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 |
probably null
Transcript: ENSMUST00000173990
AA Change: Y558*
|
SMART Domains |
Protein: ENSMUSP00000133976 Gene: ENSMUSG00000021959 AA Change: Y558*
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 null
Transcript: ENSMUST00000174694
AA Change: Y558*
|
SMART Domains |
Protein: ENSMUSP00000133680 Gene: ENSMUSG00000114942 AA Change: Y558*
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: 93.7%
- 3x: 90.8%
- 10x: 84.2%
- 20x: 70.1%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
Bcas3 |
A |
G |
11: 85,422,726 (GRCm39) |
I532V |
probably damaging |
Het |
Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
Ccr1 |
T |
C |
9: 123,763,765 (GRCm39) |
Y255C |
probably damaging |
Het |
Cd300e |
T |
A |
11: 114,945,336 (GRCm39) |
I153F |
possibly damaging |
Het |
Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
Cpvl |
A |
T |
6: 53,873,464 (GRCm39) |
F424Y |
possibly damaging |
Het |
Cxcl16 |
C |
T |
11: 70,349,625 (GRCm39) |
G80R |
probably damaging |
Het |
Cyp2g1 |
T |
C |
7: 26,513,619 (GRCm39) |
V186A |
probably benign |
Het |
Cyp4f15 |
T |
A |
17: 32,921,798 (GRCm39) |
M490K |
probably damaging |
Het |
D630045J12Rik |
A |
T |
6: 38,155,774 (GRCm39) |
V1160D |
probably damaging |
Het |
Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
Fgf5 |
T |
A |
5: 98,409,838 (GRCm39) |
V129E |
probably damaging |
Het |
Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
Gcnt2 |
G |
A |
13: 41,071,413 (GRCm39) |
V19M |
probably benign |
Het |
Gga1 |
C |
A |
15: 78,777,836 (GRCm39) |
A595D |
probably damaging |
Het |
Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
Gskip |
C |
T |
12: 105,651,121 (GRCm39) |
|
probably benign |
Het |
Ighv1-72 |
A |
G |
12: 115,721,620 (GRCm39) |
V112A |
probably damaging |
Het |
Krt16 |
T |
A |
11: 100,138,732 (GRCm39) |
T185S |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,071,699 (GRCm39) |
V862A |
|
Het |
Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
Mnx1 |
T |
C |
5: 29,679,105 (GRCm39) |
E326G |
unknown |
Het |
Mtmr10 |
A |
G |
7: 63,983,106 (GRCm39) |
E471G |
probably benign |
Het |
Or5p64 |
C |
T |
7: 107,855,310 (GRCm39) |
V12M |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,945,273 (GRCm39) |
V2177M |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,894,306 (GRCm39) |
E693G |
unknown |
Het |
Pclo |
T |
C |
5: 14,763,182 (GRCm39) |
M600T |
possibly damaging |
Het |
Pdgfra |
T |
A |
5: 75,340,907 (GRCm39) |
M622K |
probably damaging |
Het |
Pdxdc1 |
A |
G |
16: 13,663,209 (GRCm39) |
L428P |
probably damaging |
Het |
Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
Podnl1 |
G |
A |
8: 84,854,477 (GRCm39) |
V150M |
|
Het |
Pou4f3 |
A |
G |
18: 42,527,717 (GRCm39) |
M4V |
probably benign |
Het |
Ppp1r13b |
G |
A |
12: 111,799,074 (GRCm39) |
R864C |
probably damaging |
Het |
R3hdm4 |
A |
G |
10: 79,749,389 (GRCm39) |
|
probably null |
Het |
Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
Sptb |
G |
A |
12: 76,667,460 (GRCm39) |
T879M |
probably damaging |
Het |
Strip1 |
G |
A |
3: 107,535,486 (GRCm39) |
A79V |
probably benign |
Het |
Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
Trim34a |
T |
A |
7: 103,897,155 (GRCm39) |
L73Q |
probably damaging |
Het |
Trpv4 |
T |
A |
5: 114,764,984 (GRCm39) |
T677S |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
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 |
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 |
R9643:Lats2
|
UTSW |
14 |
57,936,875 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCACCCCGTGTCTGAGATG -3'
(R):5'- TAAGTCTGAGCAGTACAGCG -3'
Sequencing Primer
(F):5'- CCCGTGTCTGAGATGGGTGC -3'
(R):5'- TCTGAGCAGTACAGCGTGGAC -3'
|
Posted On |
2019-06-07 |