Incidental Mutation 'IGL02173:Lats2'
ID282982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lats2
Ensembl Gene ENSMUSG00000021959
Gene Namelarge tumor suppressor 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02173
Quality Score
Status
Chromosome14
Chromosomal Location57689662-57758388 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57697260 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 671 (V671A)
Ref Sequence ENSEMBL: ENSMUSP00000022531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022531] [ENSMUST00000173964] [ENSMUST00000173990] [ENSMUST00000174213] [ENSMUST00000174694]
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: V671A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022531
Gene: ENSMUSG00000021959
AA Change: V671A

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000082591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172474
Predicted Effect probably damaging
Transcript: ENSMUST00000173964
AA Change: V278A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134142
Gene: ENSMUSG00000021959
AA Change: V278A

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000173990
AA Change: V671A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133976
Gene: ENSMUSG00000021959
AA Change: V671A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:2COS|A 91 114 2e-6 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000174694
AA Change: V671A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133680
Gene: ENSMUSG00000114942
AA Change: V671A

DomainStartEndE-ValueType
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,225,892 H68L possibly damaging Het
4930533K18Rik A G 10: 70,872,230 noncoding transcript Het
4933409G03Rik A G 2: 68,613,057 T182A unknown Het
Abca2 T A 2: 25,441,897 D1340E probably benign Het
Abcc12 G A 8: 86,566,442 A39V probably damaging Het
Acap2 T C 16: 31,108,147 R510G possibly damaging Het
Ace G T 11: 105,988,991 R719L probably benign Het
Adarb1 A C 10: 77,321,825 F263V probably damaging Het
Ambra1 T C 2: 91,917,668 S1130P probably benign Het
Aqp7 A T 4: 41,034,379 L260* probably null Het
Cntn5 G T 9: 9,748,396 S493R probably damaging Het
Crhr2 A G 6: 55,103,180 F138S probably damaging Het
D2hgdh T A 1: 93,829,889 D175E probably benign Het
Dtx4 G T 19: 12,473,257 Y530* probably null Het
Elp4 T A 2: 105,702,743 H419L probably damaging Het
Etv6 A G 6: 134,248,727 D218G possibly damaging Het
Exoc5 A G 14: 49,034,801 probably benign Het
Fyb C T 15: 6,580,695 P250S probably benign Het
Gaa A G 11: 119,274,913 Y84C probably damaging Het
Galns A T 8: 122,598,626 S262R probably damaging Het
Gm4737 T C 16: 46,154,078 N312S probably benign Het
Kctd16 T C 18: 40,530,853 I345T probably benign Het
Maml3 C A 3: 51,690,787 L179F probably damaging Het
Myo1f T C 17: 33,607,344 L1089P probably damaging Het
Nadsyn1 A T 7: 143,804,006 probably benign Het
Olfr1502 A G 19: 13,862,014 T74A probably benign Het
Olfr39 T C 9: 20,286,395 V240A probably benign Het
Olfr394 A G 11: 73,888,123 M83T possibly damaging Het
Olfr639 G A 7: 104,011,830 P291S probably damaging Het
Otog T C 7: 46,276,741 probably benign Het
Pcbd1 A G 10: 61,092,204 probably benign Het
Pced1a A G 2: 130,422,328 V164A possibly damaging Het
Pgd A G 4: 149,156,753 I233T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sec24d A T 3: 123,353,681 H733L probably damaging Het
Slc1a2 T A 2: 102,743,861 N205K probably benign Het
Sstr2 G T 11: 113,625,016 V254L probably damaging Het
Tm9sf2 G T 14: 122,143,423 V308F probably benign Het
Tor3a T C 1: 156,674,206 K34E probably benign Het
Tsta3 A G 15: 75,926,185 S233P probably damaging Het
Ubr4 T A 4: 139,437,070 probably null Het
Vmn1r56 A G 7: 5,196,118 S167P probably damaging Het
Zswim3 T A 2: 164,820,839 I413N probably damaging Het
Other mutations in Lats2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Lats2 APN 14 57691569 missense probably benign 0.09
IGL02104:Lats2 APN 14 57734012 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
R6846_Lats2_781 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
R3498:Lats2 UTSW 14 57722466 missense possibly damaging 0.95
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
R8508:Lats2 UTSW 14 57722705 missense probably benign 0.08
Posted On2015-04-16