Incidental Mutation 'R5690:Tbx2'
ID 501298
Institutional Source Beutler Lab
Gene Symbol Tbx2
Ensembl Gene ENSMUSG00000000093
Gene Name T-box 2
Synonyms
MMRRC Submission 043323-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5690 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 85723441-85732774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85727879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 271 (I271F)
Ref Sequence ENSEMBL: ENSMUSP00000000095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000095]
AlphaFold Q60707
Predicted Effect probably damaging
Transcript: ENSMUST00000000095
AA Change: I271F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000095
Gene: ENSMUSG00000000093
AA Change: I271F

DomainStartEndE-ValueType
low complexity region 28 75 N/A INTRINSIC
TBOX 104 292 2.44e-130 SMART
Pfam:TBX 305 382 1.5e-18 PFAM
low complexity region 391 408 N/A INTRINSIC
low complexity region 509 549 N/A INTRINSIC
SCOP:d1gkub1 582 612 5e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140673
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal cardiac and vascular development, edema, and polydactyly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,759,144 (GRCm39) probably benign Het
Acadl T C 1: 66,892,445 (GRCm39) Y126C probably damaging Het
Ak6 A G 13: 100,792,129 (GRCm39) probably null Het
Ap1s1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 5: 137,066,233 (GRCm39) probably benign Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp6v1e1 A T 6: 120,785,317 (GRCm39) probably null Het
Axin1 A G 17: 26,413,911 (GRCm39) Y792C probably damaging Het
C1s2 T C 6: 124,607,996 (GRCm39) N233S probably benign Het
Ccer2 C A 7: 28,455,629 (GRCm39) probably benign Het
Cfap46 A G 7: 139,218,269 (GRCm39) S1481P probably benign Het
Cspg4 A T 9: 56,806,019 (GRCm39) T2277S probably benign Het
Ctsl T A 13: 64,513,022 (GRCm39) N300I probably damaging Het
Dnah2 T C 11: 69,382,370 (GRCm39) I1247V probably benign Het
Dsg3 A T 18: 20,655,108 (GRCm39) Q135L probably benign Het
Efcab14 G A 4: 115,617,244 (GRCm39) V318M possibly damaging Het
Etl4 G A 2: 20,810,647 (GRCm39) S910N probably benign Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Frmd4b T C 6: 97,330,164 (GRCm39) E133G possibly damaging Het
Herc2 T C 7: 55,807,453 (GRCm39) F2514S probably benign Het
Il18rap A G 1: 40,576,272 (GRCm39) D261G possibly damaging Het
Klk1b16 A G 7: 43,790,318 (GRCm39) probably null Het
Lrp1b A C 2: 40,640,906 (GRCm39) probably null Het
Mrpl45 C A 11: 97,212,412 (GRCm39) probably benign Het
Myh13 A G 11: 67,220,101 (GRCm39) E150G probably damaging Het
Nbas T A 12: 13,386,285 (GRCm39) V737D probably damaging Het
Ncr1 T C 7: 4,341,296 (GRCm39) Y59H probably damaging Het
Nt5c1a T A 4: 123,109,732 (GRCm39) V277E probably damaging Het
Ogfod1 T A 8: 94,784,769 (GRCm39) S343T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Pnpla1 A T 17: 29,097,346 (GRCm39) I171F probably damaging Het
Rab5if G A 2: 156,707,234 (GRCm39) V58I probably benign Het
Rdh8 A G 9: 20,736,785 (GRCm39) N259S probably damaging Het
Resf1 T C 6: 149,229,735 (GRCm39) L927S possibly damaging Het
Slc22a12 A G 19: 6,586,878 (GRCm39) M496T probably benign Het
Slc8b1 G A 5: 120,651,270 (GRCm39) W10* probably null Het
Smarcc2 G A 10: 128,320,276 (GRCm39) G887S probably damaging Het
Smc1b A G 15: 84,996,974 (GRCm39) S549P probably damaging Het
Synj2 A G 17: 6,085,802 (GRCm39) M1181V probably benign Het
Tbx15 T C 3: 99,216,166 (GRCm39) S76P probably damaging Het
Thap4 A G 1: 93,644,352 (GRCm39) probably null Het
Tmc2 A G 2: 130,074,306 (GRCm39) Y333C probably damaging Het
Trcg1 C T 9: 57,149,094 (GRCm39) P222L probably benign Het
Tubb3 T C 8: 124,148,045 (GRCm39) V326A probably benign Het
Unc80 A C 1: 66,679,731 (GRCm39) I2101L probably benign Het
Vmn1r19 T C 6: 57,381,780 (GRCm39) L111S probably benign Het
Vps16 C T 2: 130,281,011 (GRCm39) Q226* probably null Het
Xpo4 T C 14: 57,828,446 (GRCm39) I805V probably benign Het
Other mutations in Tbx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02499:Tbx2 APN 11 85,731,739 (GRCm39) missense possibly damaging 0.82
PIT4480001:Tbx2 UTSW 11 85,725,561 (GRCm39) missense probably damaging 1.00
R1295:Tbx2 UTSW 11 85,725,592 (GRCm39) missense probably damaging 0.97
R1296:Tbx2 UTSW 11 85,725,592 (GRCm39) missense probably damaging 0.97
R1384:Tbx2 UTSW 11 85,724,318 (GRCm39) missense probably benign 0.01
R1501:Tbx2 UTSW 11 85,725,622 (GRCm39) missense probably damaging 1.00
R3949:Tbx2 UTSW 11 85,729,101 (GRCm39) nonsense probably null
R4451:Tbx2 UTSW 11 85,731,643 (GRCm39) missense probably damaging 1.00
R5214:Tbx2 UTSW 11 85,729,263 (GRCm39) missense probably benign 0.02
R6186:Tbx2 UTSW 11 85,728,672 (GRCm39) nonsense probably null
R7211:Tbx2 UTSW 11 85,725,540 (GRCm39) missense probably damaging 1.00
R7353:Tbx2 UTSW 11 85,724,315 (GRCm39) missense probably damaging 0.96
R7529:Tbx2 UTSW 11 85,731,727 (GRCm39) missense probably benign 0.02
R7573:Tbx2 UTSW 11 85,724,138 (GRCm39) missense possibly damaging 0.70
R7626:Tbx2 UTSW 11 85,731,622 (GRCm39) missense probably benign 0.00
R7762:Tbx2 UTSW 11 85,726,727 (GRCm39) missense probably damaging 1.00
R7996:Tbx2 UTSW 11 85,725,616 (GRCm39) missense probably damaging 1.00
R8932:Tbx2 UTSW 11 85,725,533 (GRCm39) missense probably damaging 0.98
R9504:Tbx2 UTSW 11 85,724,038 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GCAAAGATCCCGTCATTTTCC -3'
(R):5'- CCTCATACAAACGGAGAGTGG -3'

Sequencing Primer
(F):5'- CAAAGATCCCGTCATTTTCCTAGATG -3'
(R):5'- GAGTGGGCAGCGTTAGC -3'
Posted On 2017-12-01