Incidental Mutation 'IGL01632:Tacstd2'
ID 93486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tacstd2
Ensembl Gene ENSMUSG00000051397
Gene Name tumor-associated calcium signal transducer 2
Synonyms Ly97, TROP2, EGP-1, GA733-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # IGL01632
Quality Score
Status
Chromosome 6
Chromosomal Location 67511046-67512780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67511783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 303 (V303A)
Ref Sequence ENSEMBL: ENSMUSP00000060099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058178]
AlphaFold Q8BGV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000058178
AA Change: V303A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000060099
Gene: ENSMUSG00000051397
AA Change: V303A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
TY 99 143 1.04e-7 SMART
transmembrane domain 269 291 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199480
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal development, life expectancy and tumorigenesis. When combined with a Cdkn2a knock-out allele, mice exhibit increased incidence of induced spindle cell carcinoma and immortalized keratinocyte proliferation and migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Alms1 T A 6: 85,604,928 (GRCm39) C1724S probably benign Het
Anapc10 T C 8: 80,439,795 (GRCm39) M1T probably null Het
Antxrl A G 14: 33,789,904 (GRCm39) N332S probably damaging Het
Cdkl3 A G 11: 51,895,899 (GRCm39) R49G probably damaging Het
Chodl A G 16: 78,741,452 (GRCm39) probably benign Het
Clca3a1 G T 3: 144,733,202 (GRCm39) A102D probably damaging Het
Clip1 T C 5: 123,755,559 (GRCm39) E1029G probably damaging Het
Cpeb2 T A 5: 43,394,765 (GRCm39) I581N probably benign Het
Dmxl1 T C 18: 49,996,092 (GRCm39) V406A probably damaging Het
Dnah17 C T 11: 117,924,707 (GRCm39) R3960Q probably damaging Het
Fstl5 A G 3: 76,615,135 (GRCm39) D732G probably benign Het
Fyb2 G T 4: 104,853,008 (GRCm39) V499L probably benign Het
Gm43191 A T 3: 116,445,116 (GRCm39) H39Q probably damaging Het
Hspg2 A G 4: 137,242,084 (GRCm39) K606R probably damaging Het
Klk1b27 C T 7: 43,706,097 (GRCm39) probably benign Het
Mdga2 T C 12: 66,676,672 (GRCm39) probably benign Het
Mup14 A T 4: 61,259,383 (GRCm39) F56L probably benign Het
Myh15 A G 16: 48,881,874 (GRCm39) K39E probably benign Het
Or1j10 A T 2: 36,267,576 (GRCm39) N263Y probably benign Het
Or5m12 A G 2: 85,734,714 (GRCm39) I228T probably benign Het
Ppp1r3a T A 6: 14,754,810 (GRCm39) I146F probably damaging Het
Ryr2 A G 13: 11,609,854 (GRCm39) I759T probably damaging Het
Sfmbt1 T C 14: 30,539,669 (GRCm39) I819T probably damaging Het
Siglec1 A G 2: 130,925,740 (GRCm39) V322A probably benign Het
Spata3 T C 1: 85,950,030 (GRCm39) V87A possibly damaging Het
Taok3 T A 5: 117,403,993 (GRCm39) F723I possibly damaging Het
Tektl1 T C 10: 78,584,536 (GRCm39) S329G probably benign Het
Vmn1r210 A T 13: 23,011,366 (GRCm39) *307R probably null Het
Vmn2r70 T C 7: 85,215,280 (GRCm39) I85V probably benign Het
Zfp384 T C 6: 125,001,724 (GRCm39) I123T probably damaging Het
Other mutations in Tacstd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02714:Tacstd2 APN 6 67,512,053 (GRCm39) missense probably damaging 1.00
R0948:Tacstd2 UTSW 6 67,512,102 (GRCm39) missense probably damaging 0.99
R2697:Tacstd2 UTSW 6 67,512,203 (GRCm39) missense probably benign 0.01
R3735:Tacstd2 UTSW 6 67,511,843 (GRCm39) missense probably damaging 1.00
R4434:Tacstd2 UTSW 6 67,512,128 (GRCm39) missense possibly damaging 0.89
R4614:Tacstd2 UTSW 6 67,512,170 (GRCm39) missense probably damaging 0.99
R5615:Tacstd2 UTSW 6 67,512,033 (GRCm39) missense probably damaging 1.00
R7187:Tacstd2 UTSW 6 67,512,180 (GRCm39) missense probably damaging 1.00
R7216:Tacstd2 UTSW 6 67,511,979 (GRCm39) missense probably benign 0.00
R7815:Tacstd2 UTSW 6 67,512,140 (GRCm39) missense possibly damaging 0.94
R8051:Tacstd2 UTSW 6 67,512,383 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09