Mutagenetix > Incidental Mutation

Incidental Mutation 'R6186:Tbx2'

502188

Institutional Source

Beutler Lab

Gene Symbol

Tbx2

Ensembl Gene

ENSMUSG00000000093

Gene Name

T-box 2

Synonyms

MMRRC Submission

044326-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6186 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85723441-85732774 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 85728672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 352 (E352*)

Ref Sequence

ENSEMBL: ENSMUSP00000000095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000095]

AlphaFold

Q60707

Predicted Effect

probably null
Transcript: ENSMUST00000000095
AA Change: E352*

SMART Domains

Protein: ENSMUSP00000000095
Gene: ENSMUSG00000000093
AA Change: E352*

Domain	Start	End	E-Value	Type
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: 99.9%
10x: 99.6%
20x: 98.9%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,298,502 (GRCm39)	S409P	probably damaging	Het
Adgrg5	T	C	8: 95,660,652 (GRCm39)	V93A	possibly damaging	Het
Akap8l	C	T	17: 32,552,018 (GRCm39)	V420I	probably benign	Het
Ankrd36	T	G	11: 5,593,812 (GRCm39)	D472E	possibly damaging	Het
Apbb1	T	C	7: 105,216,933 (GRCm39)	E250G	probably damaging	Het
Cacna2d4	G	A	6: 119,258,650 (GRCm39)	E579K	possibly damaging	Het
Capn7	G	T	14: 31,092,875 (GRCm39)	G780W	probably damaging	Het
Celsr1	T	C	15: 85,805,394 (GRCm39)	E2419G	possibly damaging	Het
Cep164	A	T	9: 45,705,407 (GRCm39)	S363R	probably damaging	Het
Cfap221	T	A	1: 119,862,340 (GRCm39)	I581F	probably damaging	Het
Cog2	C	A	8: 125,273,425 (GRCm39)	T588N	probably damaging	Het
Cyp2a5	T	C	7: 26,542,813 (GRCm39)		probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Evx1	T	C	6: 52,291,203 (GRCm39)		probably null	Het
Fam186a	T	C	15: 99,845,206 (GRCm39)	H346R	unknown	Het
Fam53b	T	A	7: 132,317,445 (GRCm39)	D399V	possibly damaging	Het
Fcho2	T	A	13: 98,951,591 (GRCm39)	N9I	probably benign	Het
Fjx1	T	C	2: 102,281,152 (GRCm39)	E261G	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fkbpl	T	C	17: 34,865,153 (GRCm39)	F307S	probably benign	Het
Fn1	A	G	1: 71,676,449 (GRCm39)	I594T	probably damaging	Het
Inpp4b	T	A	8: 82,772,863 (GRCm39)	V719E	probably damaging	Het
Ldlr	C	T	9: 21,635,055 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,377,968 (GRCm39)	V1419A	probably damaging	Het
Mapkap1	A	G	2: 34,453,126 (GRCm39)	T340A	possibly damaging	Het
Mark2	A	G	19: 7,260,567 (GRCm39)	V403A	probably benign	Het
Mast3	T	C	8: 71,238,127 (GRCm39)	T521A	probably damaging	Het
Mrtfa	T	C	15: 80,900,853 (GRCm39)	K546R	probably damaging	Het
Myo1h	C	T	5: 114,457,864 (GRCm39)	T125I	possibly damaging	Het
Ndufa8	A	G	2: 35,929,752 (GRCm39)	V118A	probably benign	Het
Nphs1	A	G	7: 30,165,059 (GRCm39)	T551A	probably damaging	Het
Or2k2	T	C	4: 58,784,948 (GRCm39)	Y258C	probably damaging	Het
Or4k15c	T	A	14: 50,321,982 (GRCm39)	D52V	probably damaging	Het
Pcm1	T	C	8: 41,746,830 (GRCm39)	L1343P	probably benign	Het
Pdcd1	T	A	1: 93,967,846 (GRCm39)	R202*	probably null	Het
Pramel52-ps	T	A	5: 94,531,835 (GRCm39)	Y240N	probably benign	Het
Prkab2	A	G	3: 97,571,307 (GRCm39)		probably null	Het
Ptdss2	T	C	7: 140,734,862 (GRCm39)		probably benign	Het
Rap1b	G	T	10: 117,656,457 (GRCm39)	F78L	probably damaging	Het
Rbl2	C	T	8: 91,833,358 (GRCm39)	T711I	probably damaging	Het
Rhobtb2	A	G	14: 70,035,693 (GRCm39)	I126T	probably damaging	Het
Rimoc1	C	A	15: 4,015,851 (GRCm39)	D238Y	possibly damaging	Het
Rnf123	A	C	9: 107,947,157 (GRCm39)	S210A	possibly damaging	Het
Shank1	T	A	7: 44,001,990 (GRCm39)	F1228L	probably benign	Het
Spata31f3	T	C	4: 42,872,000 (GRCm39)	K125R	possibly damaging	Het
Sumo1	C	A	1: 59,683,729 (GRCm39)	V38L	probably benign	Het
Sycp2	C	T	2: 178,025,353 (GRCm39)	S363N	probably damaging	Het
Timm44	T	C	8: 4,316,824 (GRCm39)	N270D	probably damaging	Het
Topaz1	A	T	9: 122,577,891 (GRCm39)	Q267L	probably benign	Het
Trp63	T	C	16: 25,695,483 (GRCm39)		probably benign	Het
Ushbp1	T	A	8: 71,843,647 (GRCm39)	T264S	possibly damaging	Het
Vav3	A	G	3: 109,423,383 (GRCm39)	Y334C	probably damaging	Het
Wdr36	G	C	18: 32,985,954 (GRCm39)	A553P	probably benign	Het
Zfhx2	A	T	14: 55,300,617 (GRCm39)	I2378K	probably damaging	Het
Zfp276	T	A	8: 123,982,672 (GRCm39)	Y145*	probably null	Het
Zfp458	T	C	13: 67,405,701 (GRCm39)	E246G	probably damaging	Het
Zfp526	A	G	7: 24,925,561 (GRCm39)	T607A	probably benign	Het

Other mutations in Tbx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTTATGTGACCTGCAGCTGC -3'
(R):5'- CAAAGAACTGCTGCCCATGC -3'

Sequencing Primer
(F):5'- AGCTGCCCCTAGAAGCTCTC -3'
(R):5'- GACGCACTGTCTGTCTGCAC -3'

Posted On

2018-02-27