Incidental Mutation 'R0948:Tacstd2'
ID 81703
Institutional Source Beutler Lab
Gene Symbol Tacstd2
Ensembl Gene ENSMUSG00000051397
Gene Name tumor-associated calcium signal transducer 2
Synonyms Ly97, TROP2, EGP-1, GA733-1
MMRRC Submission 039087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.247) question?
Stock # R0948 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 67511046-67512780 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67512102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 197 (I197L)
Ref Sequence ENSEMBL: ENSMUSP00000060099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058178]
AlphaFold Q8BGV3
Predicted Effect probably damaging
Transcript: ENSMUST00000058178
AA Change: I197L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060099
Gene: ENSMUSG00000051397
AA Change: I197L

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 92.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik C T 19: 8,867,390 (GRCm39) T63M probably damaging Het
Abcb1a T A 5: 8,790,621 (GRCm39) probably null Het
Ahrr T C 13: 74,361,888 (GRCm39) D537G probably damaging Het
Anxa4 T A 6: 86,718,913 (GRCm39) I269F probably damaging Het
Aoc1l1 A G 6: 48,953,278 (GRCm39) Y401C probably damaging Het
Atm A T 9: 53,407,258 (GRCm39) M1160K probably benign Het
Ccdc175 A G 12: 72,177,897 (GRCm39) Y434H probably damaging Het
Col19a1 C T 1: 24,335,882 (GRCm39) A855T probably damaging Het
Cyp2a4 A G 7: 26,010,213 (GRCm39) D246G probably damaging Het
Dmbt1 T C 7: 130,694,847 (GRCm39) L840P possibly damaging Het
Dock6 A T 9: 21,712,829 (GRCm39) D2009E probably damaging Het
E2f3 C T 13: 30,169,516 (GRCm39) A46T probably damaging Het
Ect2l A T 10: 18,016,334 (GRCm39) C635S probably damaging Het
Fer1l6 A G 15: 58,435,924 (GRCm39) D439G probably benign Het
Hao1 A C 2: 134,372,693 (GRCm39) M105R probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igsf10 A G 3: 59,238,525 (GRCm39) I552T probably damaging Het
Il31ra A G 13: 112,666,912 (GRCm39) S470P possibly damaging Het
Mfsd1 A G 3: 67,504,067 (GRCm39) N353S possibly damaging Het
Mga T A 2: 119,772,140 (GRCm39) F1667I possibly damaging Het
Niban2 A G 2: 32,812,872 (GRCm39) Y480C probably damaging Het
Nwd2 T C 5: 63,964,655 (GRCm39) V1413A probably damaging Het
Or8b1 T G 9: 38,400,244 (GRCm39) S306R probably benign Het
Or8b50 G A 9: 38,517,787 (GRCm39) V9I possibly damaging Het
Osbpl10 T A 9: 114,996,187 (GRCm39) V119E probably damaging Het
Plec C A 15: 76,089,887 (GRCm39) R151L probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rnase4 G T 14: 51,342,362 (GRCm39) G29C probably damaging Het
Sim1 C A 10: 50,857,423 (GRCm39) S391* probably null Het
Sobp A T 10: 42,898,205 (GRCm39) I460N probably damaging Het
Spns3 A T 11: 72,436,766 (GRCm39) D75E probably damaging Het
Strn4 T A 7: 16,571,638 (GRCm39) C26* probably null Het
Trpc6 A G 9: 8,610,416 (GRCm39) T295A possibly damaging Het
Txnl1 G T 18: 63,825,191 (GRCm39) S18R possibly damaging Het
U2surp A G 9: 95,343,550 (GRCm39) probably benign Het
Ube2frt A T 12: 36,140,934 (GRCm39) probably benign Het
Vwce A G 19: 10,630,441 (GRCm39) Y500C probably damaging Het
Wdr49 A C 3: 75,358,158 (GRCm39) S196A probably benign Het
Wfs1 T C 5: 37,124,905 (GRCm39) Y662C probably damaging Het
Wnt8b A C 19: 44,498,968 (GRCm39) D133A possibly damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp532 C A 18: 65,756,889 (GRCm39) A274E probably damaging Het
Zfp74 A G 7: 29,635,362 (GRCm39) probably null Het
Other mutations in Tacstd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01632:Tacstd2 APN 6 67,511,783 (GRCm39) missense possibly damaging 0.68
IGL02714:Tacstd2 APN 6 67,512,053 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AAGTCGGGGCATCCTACAGGAAAC -3'
(R):5'- ATCCTCATTGAGTTGCGCCACC -3'

Sequencing Primer
(F):5'- CTCGTCCAGGTAGTAGATGAGC -3'
(R):5'- AGAACGCTACAAGCTGCA -3'
Posted On 2013-11-08