Incidental Mutation 'R8508:Lats2'
| ID |
655720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lats2
|
| Ensembl Gene |
ENSMUSG00000021959 |
| Gene Name |
large tumor suppressor 2 |
| Synonyms |
|
| MMRRC Submission |
067844-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8508 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57927119-57983669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 57960162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 161
(S161A)
|
| 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 |
probably benign
Transcript: ENSMUST00000038381
AA Change: S161A
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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: 99.5%
- 20x: 98.0%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
G |
16: 90,852,500 (GRCm39) |
Y212S |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,375,795 (GRCm39) |
N154D |
probably damaging |
Het |
| Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
| Ankrd27 |
T |
A |
7: 35,301,051 (GRCm39) |
L117* |
probably null |
Het |
| Arhgap21 |
C |
T |
2: 20,858,991 (GRCm39) |
M1234I |
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,674,764 (GRCm39) |
E387G |
probably damaging |
Het |
| Atp13a4 |
T |
A |
16: 29,273,587 (GRCm39) |
K444* |
probably null |
Het |
| Atp6v1a |
G |
A |
16: 43,922,225 (GRCm39) |
R338C |
probably damaging |
Het |
| Canx |
T |
C |
11: 50,202,474 (GRCm39) |
D44G |
possibly damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,962,588 (GRCm39) |
M119L |
probably benign |
Het |
| Ckmt1 |
A |
C |
2: 121,193,172 (GRCm39) |
Q299P |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,196,812 (GRCm39) |
S601P |
probably damaging |
Het |
| Dna2 |
A |
C |
10: 62,786,673 (GRCm39) |
R140S |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,384,138 (GRCm39) |
T670A |
probably benign |
Het |
| Eif1ad10 |
T |
G |
12: 88,216,455 (GRCm39) |
E139A |
unknown |
Het |
| Eogt |
A |
G |
6: 97,120,959 (GRCm39) |
S85P |
possibly damaging |
Het |
| Fbf1 |
A |
T |
11: 116,056,707 (GRCm39) |
M1K |
probably null |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Flnb |
G |
A |
14: 7,950,394 (GRCm38) |
V2571I |
probably damaging |
Het |
| Gm43518 |
A |
G |
5: 124,076,322 (GRCm39) |
E123G |
unknown |
Het |
| Gpatch2 |
A |
G |
1: 187,036,552 (GRCm39) |
N374S |
probably benign |
Het |
| Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
| Hoxa11 |
T |
C |
6: 52,222,782 (GRCm39) |
|
probably benign |
Het |
| Hydin |
G |
A |
8: 111,308,650 (GRCm39) |
V3979I |
probably benign |
Het |
| Ighe |
C |
T |
12: 113,235,413 (GRCm39) |
W277* |
probably null |
Het |
| Kmt2c |
G |
T |
5: 25,519,120 (GRCm39) |
T2330K |
probably benign |
Het |
| Krt6a |
T |
A |
15: 101,601,170 (GRCm39) |
K261M |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Mipol1 |
T |
C |
12: 57,352,874 (GRCm39) |
V71A |
possibly damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,914,003 (GRCm39) |
K415* |
probably null |
Het |
| Npepps |
A |
G |
11: 97,135,252 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
A |
T |
10: 93,576,966 (GRCm39) |
N545Y |
possibly damaging |
Het |
| Or11g1 |
A |
C |
14: 50,651,132 (GRCm39) |
M44L |
probably benign |
Het |
| Or1n1b |
A |
G |
2: 36,780,366 (GRCm39) |
S165P |
probably damaging |
Het |
| Or2m12 |
T |
C |
16: 19,105,451 (GRCm39) |
D14G |
probably benign |
Het |
| Or9i2 |
A |
T |
19: 13,815,766 (GRCm39) |
M257K |
possibly damaging |
Het |
| Osbpl2 |
T |
A |
2: 179,797,136 (GRCm39) |
V358E |
possibly damaging |
Het |
| Pdcd11 |
C |
A |
19: 47,108,245 (GRCm39) |
P1204Q |
probably damaging |
Het |
| Pnliprp2 |
A |
C |
19: 58,751,806 (GRCm39) |
S184R |
probably damaging |
Het |
| Ppm1g |
G |
T |
5: 31,361,872 (GRCm39) |
R373S |
probably damaging |
Het |
| Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
| Rps18-ps5 |
A |
G |
13: 28,441,694 (GRCm39) |
I26V |
probably benign |
Het |
| Setd5 |
T |
C |
6: 113,098,048 (GRCm39) |
S696P |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,772,268 (GRCm39) |
Q219R |
probably benign |
Het |
| Slc1a2 |
T |
C |
2: 102,566,430 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
T |
C |
19: 6,592,467 (GRCm39) |
T106A |
probably benign |
Het |
| Slc22a14 |
A |
G |
9: 119,009,651 (GRCm39) |
L148P |
probably damaging |
Het |
| Slc2a9 |
A |
T |
5: 38,539,421 (GRCm39) |
F375I |
probably damaging |
Het |
| Sorbs3 |
A |
T |
14: 70,440,396 (GRCm39) |
D117E |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,891,412 (GRCm39) |
L136P |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,254,221 (GRCm39) |
T1176I |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,419,046 (GRCm39) |
V193D |
probably damaging |
Het |
| Sytl3 |
A |
G |
17: 6,995,690 (GRCm39) |
T362A |
probably damaging |
Het |
| Tctn1 |
T |
A |
5: 122,384,674 (GRCm39) |
Q410L |
probably benign |
Het |
| Trbc2 |
T |
C |
6: 41,524,711 (GRCm39) |
Y133H |
|
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Vmn2r120 |
A |
G |
17: 57,832,843 (GRCm39) |
V112A |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,814,297 (GRCm39) |
S209R |
probably benign |
Het |
| Zfp362 |
T |
C |
4: 128,668,399 (GRCm39) |
H391R |
probably 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 |
|
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 |
|
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'- GCACCAGGAATATGCATCTGG -3'
(R):5'- CACTTAACAGAGGGATGGTGGC -3'
Sequencing Primer
(F):5'- GCATCTGGAAATAAAGAAATCTGCC -3'
(R):5'- GACAGTCTGTGCCCTTAACTATGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation