Incidental Mutation 'R3949:Tbx2'
ID 307830
Institutional Source Beutler Lab
Gene Symbol Tbx2
Ensembl Gene ENSMUSG00000000093
Gene Name T-box 2
Synonyms
MMRRC Submission 040929-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3949 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 85723441-85732774 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 85729101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 495 (Q495*)
Ref Sequence ENSEMBL: ENSMUSP00000000095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000095]
AlphaFold Q60707
Predicted Effect probably null
Transcript: ENSMUST00000000095
AA Change: Q495*
SMART Domains Protein: ENSMUSP00000000095
Gene: ENSMUSG00000000093
AA Change: Q495*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (47/47)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A T 13: 8,620,455 (GRCm39) M314L probably damaging Het
Apcs A G 1: 172,722,259 (GRCm39) F29S probably damaging Het
Arfgef1 CAGAG CAG 1: 10,212,811 (GRCm39) probably null Het
Avl9 T C 6: 56,705,650 (GRCm39) probably null Het
Ccdc38 A G 10: 93,386,081 (GRCm39) M66V probably damaging Het
Cfap46 T C 7: 139,258,467 (GRCm39) K269E probably benign Het
Chrdl2 A C 7: 99,678,412 (GRCm39) E328A possibly damaging Het
D430041D05Rik T C 2: 104,087,713 (GRCm39) N421S probably benign Het
Dbndd1 G T 8: 124,233,473 (GRCm39) Q207K probably benign Het
Disc1 A G 8: 125,814,874 (GRCm39) E246G probably damaging Het
Dyrk4 A G 6: 126,862,268 (GRCm39) I408T probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Fan1 C A 7: 64,021,292 (GRCm39) E591* probably null Het
Fpr1 C A 17: 18,097,191 (GRCm39) C266F probably benign Het
Gata4 C T 14: 63,478,146 (GRCm39) R151H possibly damaging Het
Gipr T C 7: 18,891,354 (GRCm39) N441S probably benign Het
Ino80d G T 1: 63,113,662 (GRCm39) Q263K probably benign Het
Ipo13 A G 4: 117,758,239 (GRCm39) I708T probably benign Het
Iqsec3 A T 6: 121,364,783 (GRCm39) Y835* probably null Het
Kctd8 C T 5: 69,498,617 (GRCm39) G10S probably benign Het
Lamb1 A C 12: 31,332,648 (GRCm39) K257Q probably damaging Het
Lcp1 A G 14: 75,443,569 (GRCm39) N195S possibly damaging Het
Or4k48 A T 2: 111,475,871 (GRCm39) I157K possibly damaging Het
Or5b121 T C 19: 13,507,384 (GRCm39) S160P probably damaging Het
Paxbp1 T C 16: 90,840,905 (GRCm39) D113G probably damaging Het
Pcdhb7 T C 18: 37,476,141 (GRCm39) S426P probably benign Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pkd1 T A 17: 24,797,011 (GRCm39) probably benign Het
Pld2 A G 11: 70,444,180 (GRCm39) D492G probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrf1 A C 9: 89,863,797 (GRCm39) probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Serpinb10 T A 1: 107,468,636 (GRCm39) L170H probably damaging Het
Sfxn4 A G 19: 60,840,501 (GRCm39) Y165H probably damaging Het
Slc32a1 C T 2: 158,453,152 (GRCm39) probably benign Het
Slco5a1 A T 1: 13,059,833 (GRCm39) V296D probably damaging Het
Syn2 T A 6: 115,204,290 (GRCm39) probably null Het
Trav6-1 G A 14: 52,875,993 (GRCm39) V8M probably benign Het
Usp7 A T 16: 8,534,428 (GRCm39) N46K probably damaging Het
Vmn2r58 A T 7: 41,513,348 (GRCm39) F432I probably benign Het
Vmn2r99 T C 17: 19,599,252 (GRCm39) M312T probably benign Het
Washc2 T C 6: 116,185,165 (GRCm39) probably benign Het
Yju2b A G 8: 84,985,453 (GRCm39) V272A 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
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
R5690:Tbx2 UTSW 11 85,727,879 (GRCm39) missense probably damaging 1.00
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'- TGTCTGAAGTGTCGGTGACC -3'
(R):5'- ACCTGAGATGCCAGCATATG -3'

Sequencing Primer
(F):5'- GGATAACCCGTGCTCCCTC -3'
(R):5'- CATATGCTGGGAGAGGTGGAAC -3'
Posted On 2015-04-17