Incidental Mutation 'R3692:Lats2'
ID |
268835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lats2
|
Ensembl Gene |
ENSMUSG00000021959 |
Gene Name |
large tumor suppressor 2 |
Synonyms |
|
MMRRC Submission |
040687-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3692 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
57927119-57983669 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57928998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 959
(N959S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022531
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022531]
[ENSMUST00000173990]
[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 damaging
Transcript: ENSMUST00000022531
AA Change: N959S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022531 Gene: ENSMUSG00000021959 AA Change: N959S
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 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: 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 |
|
Meta Mutation Damage Score |
0.6925 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
98% (42/43) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam1a |
T |
C |
5: 121,657,385 (GRCm39) |
D636G |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,672,719 (GRCm39) |
V2218A |
possibly damaging |
Het |
Ano5 |
T |
A |
7: 51,240,327 (GRCm39) |
Y752N |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,160,335 (GRCm39) |
D598G |
probably damaging |
Het |
Calca |
T |
C |
7: 114,233,796 (GRCm39) |
E45G |
probably damaging |
Het |
Cdk8 |
C |
T |
5: 146,220,478 (GRCm39) |
R166* |
probably null |
Het |
Chsy1 |
T |
A |
7: 65,821,001 (GRCm39) |
M412K |
probably damaging |
Het |
Cic |
T |
A |
7: 24,988,338 (GRCm39) |
Y1675* |
probably null |
Het |
Col1a2 |
T |
A |
6: 4,510,710 (GRCm39) |
D53E |
possibly damaging |
Het |
Dennd6b |
A |
G |
15: 89,071,030 (GRCm39) |
|
probably benign |
Het |
Fut10 |
T |
A |
8: 31,726,048 (GRCm39) |
Y268N |
possibly damaging |
Het |
Glrx3 |
T |
C |
7: 137,060,846 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,642,076 (GRCm39) |
N697I |
probably damaging |
Het |
Ifi208 |
T |
C |
1: 173,510,438 (GRCm39) |
S198P |
possibly damaging |
Het |
Krt34 |
A |
G |
11: 99,929,857 (GRCm39) |
V213A |
probably damaging |
Het |
Mat1a |
A |
G |
14: 40,843,338 (GRCm39) |
Y288C |
probably damaging |
Het |
Mtif2 |
A |
T |
11: 29,490,718 (GRCm39) |
H474L |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,192,744 (GRCm39) |
I1512V |
probably damaging |
Het |
Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
Noxred1 |
G |
A |
12: 87,280,240 (GRCm39) |
R31W |
probably benign |
Het |
Or14c46 |
T |
A |
7: 85,918,703 (GRCm39) |
Q98L |
probably damaging |
Het |
Or4a69 |
T |
A |
2: 89,313,240 (GRCm39) |
M80L |
probably benign |
Het |
Pcdhb16 |
C |
A |
18: 37,611,340 (GRCm39) |
T100K |
probably benign |
Het |
Pcdhga10 |
T |
C |
18: 37,881,384 (GRCm39) |
C382R |
probably damaging |
Het |
Pdgfra |
A |
T |
5: 75,349,948 (GRCm39) |
Y944F |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,625,353 (GRCm39) |
I741T |
possibly damaging |
Het |
Ppp1r10 |
A |
G |
17: 36,241,760 (GRCm39) |
D845G |
unknown |
Het |
Rfk |
C |
A |
19: 17,376,834 (GRCm39) |
|
probably null |
Het |
Rgs11 |
C |
T |
17: 26,423,302 (GRCm39) |
|
probably benign |
Het |
Spata31d1b |
T |
C |
13: 59,865,705 (GRCm39) |
V951A |
probably benign |
Het |
St3gal5 |
T |
C |
6: 72,126,013 (GRCm39) |
V286A |
probably benign |
Het |
St7l |
T |
C |
3: 104,798,870 (GRCm39) |
M320T |
probably benign |
Het |
Tnfrsf1b |
G |
T |
4: 144,954,092 (GRCm39) |
Q86K |
probably benign |
Het |
Tox |
T |
C |
4: 6,697,535 (GRCm39) |
I423V |
probably benign |
Het |
Tpbpa |
T |
A |
13: 61,087,827 (GRCm39) |
H88L |
probably benign |
Het |
Vmn1r236 |
A |
G |
17: 21,507,068 (GRCm39) |
Y62C |
probably benign |
Het |
Ythdc1 |
A |
G |
5: 86,970,526 (GRCm39) |
I399M |
probably damaging |
Het |
Zfp948 |
T |
G |
17: 21,807,838 (GRCm39) |
D343E |
probably benign |
Het |
Zswim6 |
A |
G |
13: 107,863,076 (GRCm39) |
|
noncoding transcript |
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 |
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'- TGAGGCTTACACGTACACCG -3'
(R):5'- ACCTCATCACGAAGCTGTG -3'
Sequencing Primer
(F):5'- TTACACGTACACCGGCTGG -3'
(R):5'- GAAGCTGTGCTGCGCGG -3'
|
Posted On |
2015-02-19 |