Incidental Mutation 'IGL03018:Lat2'
ID407949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lat2
Ensembl Gene ENSMUSG00000040751
Gene Namelinker for activation of T cells family, member 2
SynonymsWbscr15, Wbscr5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL03018
Quality Score
Status
Chromosome5
Chromosomal Location134600022-134615025 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 134602591 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 191 (I191N)
Ref Sequence ENSEMBL: ENSMUSP00000076824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023867] [ENSMUST00000036362] [ENSMUST00000077636] [ENSMUST00000200737] [ENSMUST00000200998] [ENSMUST00000202085]
Predicted Effect probably benign
Transcript: ENSMUST00000023867
SMART Domains Protein: ENSMUSP00000023867
Gene: ENSMUSG00000023104

DomainStartEndE-ValueType
AAA 63 189 9.42e-13 SMART
Pfam:Rep_fac_C 253 338 3.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000036362
AA Change: I203N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046900
Gene: ENSMUSG00000040751
AA Change: I203N

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
Pfam:LAT2 29 197 6.6e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000077636
AA Change: I191N

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076824
Gene: ENSMUSG00000040751
AA Change: I191N

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200737
SMART Domains Protein: ENSMUSP00000143998
Gene: ENSMUSG00000040751

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:LAT2 29 114 9.5e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200945
Predicted Effect possibly damaging
Transcript: ENSMUST00000200998
AA Change: I203N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143977
Gene: ENSMUSG00000040751
AA Change: I203N

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
Pfam:LAT2 29 197 6.6e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201464
Predicted Effect probably benign
Transcript: ENSMUST00000201632
AA Change: I100N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201832
Predicted Effect probably benign
Transcript: ENSMUST00000202085
SMART Domains Protein: ENSMUSP00000144611
Gene: ENSMUSG00000040751

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
Pfam:LAT2 29 116 7.5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202746
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 is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have abnormal mast cell physiology and increased anti-nuclear antigen antibody level. Mice homozygous for another null allele show abnormal mast cell physiology, hyperactivated T cells, higher cytokine production, spleenhyperplasia and increased autoantibody level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,702,451 V474E probably damaging Het
Casc1 A G 6: 145,183,305 F394S probably damaging Het
Cpsf6 A T 10: 117,367,956 D30E probably benign Het
Edem1 T C 6: 108,829,142 F135L probably damaging Het
Elf3 C T 1: 135,256,065 E239K possibly damaging Het
Farp1 C T 14: 121,102,169 A53V probably benign Het
Gli3 T A 13: 15,660,132 L400Q probably damaging Het
Gm7257 A G 9: 36,433,427 T84A possibly damaging Het
Gtf2i T A 5: 134,289,335 I109F possibly damaging Het
Mtf1 G A 4: 124,838,663 A505T probably benign Het
Naa30 G T 14: 49,173,240 E208D probably benign Het
Nlrp5 T C 7: 23,417,747 Y299H probably benign Het
Npc1 T A 18: 12,214,379 N195Y probably damaging Het
Olfr1101 T G 2: 86,989,005 Y57S probably damaging Het
Olfr1182 T C 2: 88,446,819 N40D probably damaging Het
Olfr453 A G 6: 42,744,814 Y259C probably damaging Het
Olfr830 T C 9: 18,876,227 M300T probably benign Het
Olfr832 A T 9: 18,944,881 I78F probably damaging Het
Pcdh9 G A 14: 93,015,576 A1217V probably null Het
Pdhb C T 14: 8,171,537 probably benign Het
Pknox2 A G 9: 36,954,697 Y75H probably damaging Het
Ptprn2 T C 12: 117,211,943 S748P probably damaging Het
Ranbp6 A G 19: 29,811,389 V521A probably damaging Het
Samd7 A G 3: 30,762,145 K347E probably damaging Het
Selenom A G 11: 3,516,508 D63G probably damaging Het
Sema6d T C 2: 124,659,600 V487A possibly damaging Het
Tapt1 A T 5: 44,204,324 M109K probably damaging Het
Trib1 T C 15: 59,654,484 F301S probably damaging Het
Tspyl1 T C 10: 34,283,116 V279A probably damaging Het
Ubr2 C T 17: 46,954,046 V1184I possibly damaging Het
Urb1 T C 16: 90,788,156 I526V probably benign Het
Vtcn1 A G 3: 100,883,910 D88G probably damaging Het
Yod1 T G 1: 130,718,958 L191V probably benign Het
Other mutations in Lat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Lat2 APN 5 134606776 critical splice donor site probably null
IGL01897:Lat2 APN 5 134606627 splice site probably benign
IGL02869:Lat2 APN 5 134608173 missense probably damaging 1.00
R0735:Lat2 UTSW 5 134606783 missense probably damaging 1.00
R1739:Lat2 UTSW 5 134606369 missense possibly damaging 0.93
R2257:Lat2 UTSW 5 134602627 missense probably damaging 1.00
R2866:Lat2 UTSW 5 134605944 missense probably damaging 0.99
R4675:Lat2 UTSW 5 134606057 missense probably damaging 0.99
R5008:Lat2 UTSW 5 134603137 missense probably benign 0.02
R6014:Lat2 UTSW 5 134603454 missense probably damaging 1.00
R6422:Lat2 UTSW 5 134603161 missense probably benign 0.00
R7330:Lat2 UTSW 5 134606787 missense probably damaging 0.99
R7512:Lat2 UTSW 5 134605944 missense probably damaging 0.99
Posted On2016-08-02