Incidental Mutation 'R1384:Tbx2'
ID 163177
Institutional Source Beutler Lab
Gene Symbol Tbx2
Ensembl Gene ENSMUSG00000000093
Gene Name T-box 2
Synonyms
MMRRC Submission 039446-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1384 (G1)
Quality Score 114
Status Validated
Chromosome 11
Chromosomal Location 85723441-85732774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85724318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 129 (K129R)
Ref Sequence ENSEMBL: ENSMUSP00000000095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000095]
AlphaFold Q60707
Predicted Effect probably benign
Transcript: ENSMUST00000000095
AA Change: K129R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000000095
Gene: ENSMUSG00000000093
AA Change: K129R

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
Meta Mutation Damage Score 0.1958 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 96% (54/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,451 (GRCm39) noncoding transcript Het
A930033H14Rik A G 10: 69,048,191 (GRCm39) probably benign Het
Abcf3 G A 16: 20,378,053 (GRCm39) G522R probably damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Alg10b A G 15: 90,111,785 (GRCm39) K210E possibly damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
C9 G A 15: 6,488,415 (GRCm39) V90I probably benign Het
Cacna1s A G 1: 136,022,709 (GRCm39) I634V probably benign Het
Catip A G 1: 74,403,522 (GRCm39) D153G probably benign Het
Cpt1c G A 7: 44,610,348 (GRCm39) probably benign Het
Cyp2c23 A G 19: 44,002,102 (GRCm39) S296P probably damaging Het
Cyp2d41-ps G A 15: 82,663,718 (GRCm39) noncoding transcript Het
Edc4 T A 8: 106,619,014 (GRCm39) I1327N probably damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Filip1l A G 16: 57,391,652 (GRCm39) K509E possibly damaging Het
Golga4 A G 9: 118,394,719 (GRCm39) E96G probably damaging Het
Grid2ip T G 5: 143,371,851 (GRCm39) probably null Het
Gucy1a2 A C 9: 3,759,620 (GRCm39) E475D probably damaging Het
Hipk1 A G 3: 103,666,090 (GRCm39) probably benign Het
Ica1 G A 6: 8,742,262 (GRCm39) Q124* probably null Het
Igsf3 T C 3: 101,358,612 (GRCm39) probably null Het
Matn2 A G 15: 34,409,956 (GRCm39) E462G probably benign Het
Men1 T C 19: 6,389,921 (GRCm39) S464P probably benign Het
Mrgpra2b T A 7: 47,113,742 (GRCm39) E330V probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Nckap1 A G 2: 80,364,014 (GRCm39) M492T possibly damaging Het
Nhsl1 A T 10: 18,284,261 (GRCm39) K67N probably null Het
Nostrin A G 2: 69,019,406 (GRCm39) R484G probably benign Het
Or8g22 T A 9: 38,958,200 (GRCm39) I172F possibly damaging Het
Otog T A 7: 45,923,119 (GRCm39) probably benign Het
P2rx5 A G 11: 73,058,716 (GRCm39) Y300C probably damaging Het
Pars2 T C 4: 106,510,913 (GRCm39) F232L possibly damaging Het
Pi4ka A G 16: 17,115,401 (GRCm39) probably benign Het
Pld3 A G 7: 27,237,082 (GRCm39) S266P probably benign Het
Pole G A 5: 110,471,530 (GRCm39) V1425M possibly damaging Het
Prss43 A G 9: 110,656,510 (GRCm39) I66V probably benign Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Slc45a2 A G 15: 11,025,832 (GRCm39) Y394C probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Strip1 T C 3: 107,534,155 (GRCm39) S160G probably benign Het
Tfr2 T C 5: 137,585,082 (GRCm39) probably benign Het
Thap12 T C 7: 98,352,645 (GRCm39) S17P probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tspear T C 10: 77,702,166 (GRCm39) F200L probably benign Het
Tspyl5 T A 15: 33,687,526 (GRCm39) R140W possibly damaging Het
Ttn T C 2: 76,606,002 (GRCm39) D18236G probably damaging Het
Upf2 G A 2: 5,965,800 (GRCm39) R140Q unknown Het
Vps4a T A 8: 107,763,276 (GRCm39) I10N possibly damaging 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
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
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'- ATGGCTTACCACCCGTTCCACG -3'
(R):5'- ACTTCCAGACCGTCCAGGAGAC -3'

Sequencing Primer
(F):5'- TAGGCAAGCCTCTGCCG -3'
(R):5'- AGAGCATCGACCCAGTGGT -3'
Posted On 2014-03-17