Incidental Mutation 'R4451:Tbx2'
ID 328976
Institutional Source Beutler Lab
Gene Symbol Tbx2
Ensembl Gene ENSMUSG00000000093
Gene Name T-box 2
Synonyms
MMRRC Submission 041712-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4451 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 85723441-85732774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85731643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 647 (S647P)
Ref Sequence ENSEMBL: ENSMUSP00000000095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000095]
AlphaFold Q60707
Predicted Effect probably damaging
Transcript: ENSMUST00000000095
AA Change: S647P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000095
Gene: ENSMUSG00000000093
AA Change: S647P

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 0.0784 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (43/43)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A C 5: 62,906,513 (GRCm39) F169V probably benign Het
Baiap2l1 T A 5: 144,215,362 (GRCm39) Y381F probably damaging Het
Cdc27 A T 11: 104,408,221 (GRCm39) M563K probably benign Het
Cela3b G A 4: 137,148,355 (GRCm39) probably benign Het
Cyp2c29 A T 19: 39,279,270 (GRCm39) D50V probably damaging Het
Dbpht2 A T 12: 74,345,806 (GRCm39) noncoding transcript Het
Dnah9 T A 11: 65,772,467 (GRCm39) Q3755L probably benign Het
Dnajc2 T C 5: 21,962,792 (GRCm39) T588A possibly damaging Het
Dync2h1 T A 9: 6,983,477 (GRCm39) R4022S probably benign Het
Gm20481 T G 17: 35,191,109 (GRCm39) probably benign Het
Gm7347 A G 5: 26,260,004 (GRCm39) I182T possibly damaging Het
Gns G A 10: 121,212,601 (GRCm39) G188S probably damaging Het
Grm5 T G 7: 87,724,340 (GRCm39) probably null Het
Gstm4 T C 3: 107,951,291 (GRCm39) probably null Het
Il7r T A 15: 9,513,034 (GRCm39) K158N probably benign Het
Irs1 T C 1: 82,266,749 (GRCm39) Y489C probably benign Het
Kcns1 C T 2: 164,010,598 (GRCm39) E54K possibly damaging Het
Klra5 T A 6: 129,885,797 (GRCm39) R31* probably null Het
Krt13 T C 11: 100,008,827 (GRCm39) T409A unknown Het
Lce1e C T 3: 92,614,967 (GRCm39) G127S unknown Het
Mfsd14a T C 3: 116,456,127 (GRCm39) M1V probably null Het
Micall2 T C 5: 139,692,852 (GRCm39) E891G probably damaging Het
Mpeg1 A T 19: 12,440,596 (GRCm39) K685* probably null Het
Nbea A G 3: 55,899,753 (GRCm39) probably null Het
Nup155 A G 15: 8,180,366 (GRCm39) M1148V probably benign Het
Or51aa5 A G 7: 103,167,184 (GRCm39) S136P probably damaging Het
Or5m3b T C 2: 85,872,303 (GRCm39) S215P probably damaging Het
Otof T A 5: 30,542,508 (GRCm39) D695V possibly damaging Het
Ptf1a G T 2: 19,451,092 (GRCm39) A141S possibly damaging Het
Pxmp2 A T 5: 110,425,531 (GRCm39) V168E probably damaging Het
Rab11fip1 T C 8: 27,644,505 (GRCm39) K427E probably damaging Het
Susd2 A G 10: 75,475,232 (GRCm39) V526A probably damaging Het
Tg A G 15: 66,637,996 (GRCm39) T651A probably benign Het
Trim68 T A 7: 102,333,680 (GRCm39) M1L probably damaging Het
Ttn A C 2: 76,584,250 (GRCm39) L20540* probably null Het
Usf3 A T 16: 44,038,251 (GRCm39) K910N possibly damaging Het
Vmn1r14 T G 6: 57,211,213 (GRCm39) Y220D possibly damaging Het
Vmn1r209 T A 13: 22,990,668 (GRCm39) K7N 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
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'- AATCCCAATGCCCACTTTCG -3'
(R):5'- CTGTACACGTCCTAGACAGC -3'

Sequencing Primer
(F):5'- GTACACTTACATGGCAGCAGCG -3'
(R):5'- AAGCAGCCCCTCACTTGG -3'
Posted On 2015-07-21