Incidental Mutation 'R7529:Tbx2'
ID 583209
Institutional Source Beutler Lab
Gene Symbol Tbx2
Ensembl Gene ENSMUSG00000000093
Gene Name T-box 2
Synonyms
MMRRC Submission 045601-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7529 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 85723441-85732774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85731727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 675 (S675P)
Ref Sequence ENSEMBL: ENSMUSP00000000095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000095]
AlphaFold Q60707
Predicted Effect probably benign
Transcript: ENSMUST00000000095
AA Change: S675P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000000095
Gene: ENSMUSG00000000093
AA Change: S675P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (79/79)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T A 7: 127,836,336 (GRCm39) K86* probably null Het
Ablim3 A C 18: 61,955,039 (GRCm39) S317A probably benign Het
Adcy1 T C 11: 7,089,157 (GRCm39) S524P probably damaging Het
Agps C A 2: 75,662,696 (GRCm39) A47E possibly damaging Het
Arhgef15 G T 11: 68,844,848 (GRCm39) R250S probably damaging Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atoh8 G T 6: 72,200,825 (GRCm39) D288E probably benign Het
B3galt2 A C 1: 143,522,274 (GRCm39) K137Q probably benign Het
Cacna2d4 G A 6: 119,247,727 (GRCm39) V343I probably benign Het
Cage1 T C 13: 38,209,731 (GRCm39) N82S possibly damaging Het
Cep350 A G 1: 155,737,669 (GRCm39) S2725P probably benign Het
Cfap65 T C 1: 74,965,769 (GRCm39) N414D probably damaging Het
Cgnl1 A C 9: 71,539,040 (GRCm39) L1154R probably damaging Het
Cmya5 A T 13: 93,233,942 (GRCm39) M382K probably benign Het
Dchs2 G A 3: 83,261,705 (GRCm39) V2658M possibly damaging Het
Dlgap5 T C 14: 47,653,876 (GRCm39) N51S probably damaging Het
Dnah17 A G 11: 117,940,692 (GRCm39) probably null Het
Dnal1 A G 12: 84,178,117 (GRCm39) I35V probably benign Het
Dtnbp1 A G 13: 45,084,546 (GRCm39) F198S probably damaging Het
Edar A T 10: 58,447,830 (GRCm39) S160T probably benign Het
Enpp3 A T 10: 24,674,072 (GRCm39) N409K probably damaging Het
Ercc6 T A 14: 32,282,686 (GRCm39) C726* probably null Het
Extl2 G A 3: 115,821,055 (GRCm39) V301I possibly damaging Het
G2e3 A G 12: 51,418,387 (GRCm39) Q594R probably damaging Het
Gal3st2c A G 1: 93,937,039 (GRCm39) N328S probably benign Het
Galnt17 A G 5: 131,335,218 (GRCm39) V74A probably damaging Het
Ggta1 A G 2: 35,304,256 (GRCm39) W76R probably damaging Het
Gm9772 T A 17: 22,226,140 (GRCm39) D48V probably benign Het
Herpud2 T C 9: 25,020,193 (GRCm39) T388A probably damaging Het
Ighv5-9-1 A G 12: 113,699,954 (GRCm39) S53P possibly damaging Het
Il23r T A 6: 67,467,720 (GRCm39) M16L possibly damaging Het
Ints1 G A 5: 139,753,481 (GRCm39) A717V possibly damaging Het
Itpr2 A T 6: 146,096,096 (GRCm39) L2122Q probably damaging Het
Klrg2 A T 6: 38,607,266 (GRCm39) V248E probably damaging Het
Krtap5-5 A G 7: 141,783,429 (GRCm39) C74R unknown Het
Luzp1 G T 4: 136,268,243 (GRCm39) L155F probably damaging Het
Mcam T C 9: 44,050,192 (GRCm39) V209A probably benign Het
Med1 G C 11: 98,046,791 (GRCm39) T1335R unknown Het
Mroh2b A G 15: 4,978,491 (GRCm39) I1346V probably damaging Het
Mrpl4 C G 9: 20,918,975 (GRCm39) Q201E probably benign Het
Muc21 A T 17: 35,930,123 (GRCm39) S1354R unknown Het
Mylk2 T C 2: 152,757,624 (GRCm39) L326P probably damaging Het
Myot A T 18: 44,479,240 (GRCm39) R326* probably null Het
Nox3 T A 17: 3,722,050 (GRCm39) R288S probably damaging Het
Nox4 A T 7: 87,044,976 (GRCm39) Y572F unknown Het
Or2v2 A G 11: 49,003,686 (GRCm39) L289P probably damaging Het
Or5an10 A G 19: 12,276,086 (GRCm39) S137P probably damaging Het
Pcdhb15 G T 18: 37,607,526 (GRCm39) E253* probably null Het
Plcb2 T C 2: 118,540,715 (GRCm39) H1052R probably damaging Het
Plpp5 A T 8: 26,214,233 (GRCm39) Q250L probably benign Het
Plxna2 T C 1: 194,326,179 (GRCm39) Y38H probably benign Het
Pnpla8 A G 12: 44,329,963 (GRCm39) K172E probably benign Het
Pramel23 T C 4: 143,429,244 (GRCm39) Het
Prl8a9 T A 13: 27,744,511 (GRCm39) D110V probably benign Het
Prrx1 T C 1: 163,081,533 (GRCm39) probably null Het
Prss52 T A 14: 64,347,037 (GRCm39) H70Q probably benign Het
Rcc1 T C 4: 132,061,874 (GRCm39) T300A probably benign Het
Rnf114 T C 2: 167,349,014 (GRCm39) V64A possibly damaging Het
Rnf168 T C 16: 32,117,732 (GRCm39) I431T probably damaging Het
Rnmt A G 18: 68,444,726 (GRCm39) M232V probably benign Het
Rrs1 A C 1: 9,616,417 (GRCm39) Q223H probably benign Het
Scyl3 A T 1: 163,771,438 (GRCm39) L261F probably damaging Het
Slc24a4 A T 12: 102,230,707 (GRCm39) T533S probably benign Het
Slc26a2 A G 18: 61,331,430 (GRCm39) L667P probably damaging Het
Snrnp40 T A 4: 130,278,275 (GRCm39) V260D possibly damaging Het
Snrpa A C 7: 26,888,878 (GRCm39) M174R probably benign Het
Ss18l1 C T 2: 179,699,950 (GRCm39) A270V possibly damaging Het
Stk19 G T 17: 35,043,632 (GRCm39) Q193K probably benign Het
Syne1 T A 10: 5,374,382 (GRCm39) I142L probably damaging Het
Tcaf1 A G 6: 42,652,289 (GRCm39) I731T probably damaging Het
Tg G T 15: 66,566,617 (GRCm39) G1222W probably damaging Het
Tsc2 A G 17: 24,816,922 (GRCm39) F1581L probably damaging Het
Ubr4 G C 4: 139,149,728 (GRCm39) V520L probably benign Het
Wls A T 3: 159,578,644 (GRCm39) N69Y probably benign Het
Wnk2 A G 13: 49,254,457 (GRCm39) F353L possibly damaging Het
Xkr6 G T 14: 64,056,610 (GRCm39) V430F probably benign Het
Zfp64 C T 2: 168,735,992 (GRCm39) G562R probably benign Het
Zfp663 T G 2: 165,194,728 (GRCm39) E497A probably damaging Het
Zfp995 A T 17: 22,099,333 (GRCm39) C300* probably null 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
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
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'- ATTATCACGGAGCCCATTTCTG -3'
(R):5'- GTGCTGTACACGTCCTAGAC -3'

Sequencing Primer
(F):5'- TAGCACTAGCCTCCTTAC -3'
(R):5'- TGTACACGTCCTAGACAGCCG -3'
Posted On 2019-10-17