Incidental Mutation 'R5680:Tagln2'
ID 442957
Institutional Source Beutler Lab
Gene Symbol Tagln2
Ensembl Gene ENSMUSG00000026547
Gene Name transgelin 2
Synonyms 2700094C18Rik, Sm22B
MMRRC Submission 043177-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5680 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 172327813-172334942 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172333479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 111 (F111S)
Ref Sequence ENSEMBL: ENSMUSP00000106861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111228] [ENSMUST00000111230] [ENSMUST00000192460]
AlphaFold Q9WVA4
Predicted Effect probably damaging
Transcript: ENSMUST00000111228
AA Change: F111S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106859
Gene: ENSMUSG00000026547
AA Change: F111S

DomainStartEndE-ValueType
CH 26 132 2.84e-24 SMART
Pfam:Calponin 174 198 7e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111230
AA Change: F111S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106861
Gene: ENSMUSG00000026547
AA Change: F111S

DomainStartEndE-ValueType
CH 26 132 2.84e-24 SMART
Pfam:Calponin 174 199 1.6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138296
Predicted Effect probably benign
Transcript: ENSMUST00000192460
SMART Domains Protein: ENSMUSP00000141983
Gene: ENSMUSG00000026547

DomainStartEndE-ValueType
Pfam:CH 27 90 9.2e-10 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a null allele display abnormalities in T cell physiology including cytotoxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,010 (GRCm39) R652W probably damaging Het
Abca6 A G 11: 110,127,471 (GRCm39) F362S possibly damaging Het
Adcy1 G A 11: 7,059,020 (GRCm39) V309M probably damaging Het
Agap2 A G 10: 126,923,880 (GRCm39) K752E unknown Het
Ahdc1 T A 4: 132,792,907 (GRCm39) F1383I probably benign Het
Ano5 G A 7: 51,233,562 (GRCm39) R658H possibly damaging Het
Atn1 A T 6: 124,724,778 (GRCm39) S152T possibly damaging Het
Bcl11a G A 11: 24,114,264 (GRCm39) V536M possibly damaging Het
Cdc20 T C 4: 118,290,264 (GRCm39) T466A probably damaging Het
Cecr2 C G 6: 120,738,387 (GRCm39) T1010R probably benign Het
Cfap54 A T 10: 92,814,879 (GRCm39) L1318* probably null Het
Colec11 A G 12: 28,644,730 (GRCm39) S249P probably damaging Het
Dnah6 A G 6: 73,126,508 (GRCm39) V1273A probably damaging Het
G3bp2 T C 5: 92,216,219 (GRCm39) R106G probably damaging Het
Ggt7 A T 2: 155,348,353 (GRCm39) C100S probably damaging Het
Grik4 A T 9: 42,540,415 (GRCm39) M255K probably benign Het
Kcnj11 A T 7: 45,748,232 (GRCm39) S364T probably benign Het
Lnpep A T 17: 17,799,444 (GRCm39) Y70* probably null Het
Mark1 T C 1: 184,677,013 (GRCm39) H79R probably damaging Het
Mdfic2 T A 6: 98,225,187 (GRCm39) Q32L probably damaging Het
Myo9b T G 8: 71,743,016 (GRCm39) S26A probably benign Het
Pa2g4 G T 10: 128,395,326 (GRCm39) N306K probably benign Het
Pik3c3 T A 18: 30,410,166 (GRCm39) Y133* probably null Het
Prpf6 G T 2: 181,290,933 (GRCm39) A675S probably damaging Het
Psca A G 15: 74,587,948 (GRCm39) D44G probably benign Het
Sag T A 1: 87,749,059 (GRCm39) F153I possibly damaging Het
Scn10a A G 9: 119,453,202 (GRCm39) L1231P probably damaging Het
Sirpa T C 2: 129,458,172 (GRCm39) S157P probably benign Het
Slc27a2 A T 2: 126,403,530 (GRCm39) R184S probably benign Het
Tasor CGCGGCGGCGGCGGCGG CGCGGCGGCGGCGGCGGCGGCGG 14: 27,151,080 (GRCm39) probably benign Het
Tbc1d1 A G 5: 64,481,887 (GRCm39) D696G possibly damaging Het
Tert T A 13: 73,790,470 (GRCm39) probably null Het
Togaram2 G A 17: 71,996,204 (GRCm39) R68K probably benign Het
Trim40 A T 17: 37,199,874 (GRCm39) I68N probably damaging Het
Trpa1 T C 1: 14,946,078 (GRCm39) M1018V probably benign Het
Unc13c A T 9: 73,839,884 (GRCm39) N322K probably damaging Het
Vmn2r75 T A 7: 85,820,779 (GRCm39) T52S probably benign Het
Vmn2r90 T G 17: 17,947,034 (GRCm39) V437G possibly damaging Het
Vps16 C A 2: 130,282,244 (GRCm39) H389N possibly damaging Het
Other mutations in Tagln2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0468:Tagln2 UTSW 1 172,333,788 (GRCm39) missense probably benign 0.23
R1576:Tagln2 UTSW 1 172,332,788 (GRCm39) missense probably benign 0.02
R6860:Tagln2 UTSW 1 172,333,476 (GRCm39) missense probably benign 0.32
R7149:Tagln2 UTSW 1 172,333,386 (GRCm39) missense probably damaging 0.98
R7554:Tagln2 UTSW 1 172,333,411 (GRCm39) missense probably damaging 1.00
R7977:Tagln2 UTSW 1 172,332,820 (GRCm39) missense probably benign
R7987:Tagln2 UTSW 1 172,332,820 (GRCm39) missense probably benign
R8083:Tagln2 UTSW 1 172,332,766 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- GGTTCTCTGACCTTCAGTAGTC -3'
(R):5'- TCTGTCGCTAGGTCTGCAAG -3'

Sequencing Primer
(F):5'- TGACCTTCAGTAGTCCCATCC -3'
(R):5'- TAGGTCTGCAAGCCTGGCATC -3'
Posted On 2016-11-09