Mutagenetix > Incidental Mutation

Incidental Mutation 'R1295:Tbx2'

158078

Institutional Source

Beutler Lab

Gene Symbol

Tbx2

Ensembl Gene

ENSMUSG00000000093

Gene Name

T-box 2

Synonyms

MMRRC Submission

039361-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85723441-85732774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85725592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 181 (E181G)

Ref Sequence

ENSEMBL: ENSMUSP00000000095 (fasta)

Gene Model

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

AlphaFold

Q60707

Predicted Effect

probably damaging
Transcript: ENSMUST00000000095
AA Change: E181G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000095
Gene: ENSMUSG00000000093
AA Change: E181G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140673

Meta Mutation Damage Score

0.1995

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,737,783 (GRCm39)	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,421,888 (GRCm39)	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,298,624 (GRCm39)	T102M	probably damaging	Het
Akap6	A	C	12: 52,933,812 (GRCm39)	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,680,022 (GRCm39)		probably null	Het
Amfr	T	C	8: 94,701,432 (GRCm39)	R507G	probably benign	Het
Ap1m1	T	A	8: 73,005,719 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Ccar1	C	A	10: 62,619,661 (GRCm39)		probably null	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Col5a3	A	G	9: 20,719,714 (GRCm39)	F215S	unknown	Het
Decr1	T	C	4: 15,919,207 (GRCm39)	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,244,835 (GRCm39)	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752 (GRCm39)		probably benign	Het
Ehd3	C	A	17: 74,135,181 (GRCm39)	D352E	probably damaging	Het
Enpp6	T	G	8: 47,518,535 (GRCm39)	I221S	probably benign	Het
Fam186a	T	C	15: 99,837,670 (GRCm39)		probably benign	Het
Gm5435	G	T	12: 82,542,558 (GRCm39)		noncoding transcript	Het
Gpr22	A	C	12: 31,759,513 (GRCm39)	I203S	probably benign	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Gstcd	T	C	3: 132,711,389 (GRCm39)	N431D	probably damaging	Het
H1f5	T	C	13: 21,964,169 (GRCm39)	S186G	probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ift140	G	T	17: 25,307,907 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,197,963 (GRCm39)	V381A	probably benign	Het
Ing1	T	A	8: 11,611,502 (GRCm39)	I38N	probably damaging	Het
Ing1	A	C	8: 11,611,501 (GRCm39)	I38L	probably benign	Het
Itga4	A	G	2: 79,153,033 (GRCm39)	M907V	possibly damaging	Het
Kcnk12	C	T	17: 88,053,801 (GRCm39)	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,707,402 (GRCm39)	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nav3	T	A	10: 109,527,963 (GRCm39)	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,443,892 (GRCm39)	T9A	probably damaging	Het
Numb	C	A	12: 83,842,935 (GRCm39)		probably benign	Het
Prodh2	T	C	7: 30,193,514 (GRCm39)	V79A	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,247 (GRCm39)	Y604*	probably null	Het
Ros1	T	A	10: 51,964,028 (GRCm39)	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 118,867,408 (GRCm39)	F219L	probably benign	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,097,138 (GRCm39)	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Thumpd2	A	G	17: 81,363,317 (GRCm39)	V50A	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Ttn	C	A	2: 76,573,589 (GRCm39)	R17441L	probably damaging	Het
Usp34	A	G	11: 23,334,477 (GRCm39)	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,445,694 (GRCm39)	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,225,008 (GRCm39)	A501T	probably benign	Het
Wapl	C	T	14: 34,446,726 (GRCm39)	P605S	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zfyve26	A	G	12: 79,321,694 (GRCm39)	L975P	probably damaging	Het
Zp3r	C	T	1: 130,519,181 (GRCm39)	G255D	probably damaging	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
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
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'- TCTTTCCAGGTAGCAACACAGCAC -3'
(R):5'- GGCTTGACCCATTCCTTACAGCAC -3'

Sequencing Primer
(F):5'- CAAGTAGGATGTCATGTCATTGTC -3'
(R):5'- TGGAGCTTTCCACAAACAGTC -3'

Posted On

2014-02-18