Mutagenetix > Incidental Mutation

Incidental Mutation 'R7996:Tbx2'

616101

Institutional Source

Beutler Lab

Gene Symbol

Tbx2

Ensembl Gene

ENSMUSG00000000093

Gene Name

T-box 2

Synonyms

MMRRC Submission

046036-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85723441-85732774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85725616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 189 (H189R)

Ref Sequence

ENSEMBL: ENSMUSP00000000095 (fasta)

Gene Model

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

AlphaFold

Q60707

Predicted Effect

probably damaging
Transcript: ENSMUST00000000095
AA Change: H189R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000095
Gene: ENSMUSG00000000093
AA Change: H189R

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: 100.0%
10x: 99.7%
20x: 99.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,977,490 (GRCm39)	N394K	probably damaging	Het
Amotl1	T	C	9: 14,505,001 (GRCm39)	D69G	possibly damaging	Het
Arid5a	G	T	1: 36,356,526 (GRCm39)	C121F	unknown	Het
Ccne2	C	A	4: 11,201,347 (GRCm39)	Q292K	probably benign	Het
Cfap70	A	G	14: 20,459,194 (GRCm39)	I723T	probably benign	Het
Chrnd	A	G	1: 87,118,828 (GRCm39)	T62A	probably damaging	Het
Cobll1	T	A	2: 64,981,329 (GRCm39)	H87L	possibly damaging	Het
Derl1	T	G	15: 57,741,970 (GRCm39)	M122L	probably benign	Het
Dnah5	T	A	15: 28,409,323 (GRCm39)	N3580K	probably damaging	Het
Efcab12	T	C	6: 115,800,378 (GRCm39)	Q215R	probably benign	Het
Eif3m	T	C	2: 104,831,694 (GRCm39)	N289D	probably benign	Het
Elapor2	A	C	5: 9,512,881 (GRCm39)	K958N	probably damaging	Het
Emsy	T	A	7: 98,242,888 (GRCm39)	I1084L	probably benign	Het
Garin3	T	C	11: 46,295,889 (GRCm39)	V87A		Het
Garre1	G	T	7: 33,963,024 (GRCm39)	T216K	possibly damaging	Het
Gm3336	A	T	8: 71,173,146 (GRCm39)	T53S	unknown	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Hr	G	A	14: 70,801,043 (GRCm39)	W676*	probably null	Het
Katnb1	A	T	8: 95,824,643 (GRCm39)	I546F	possibly damaging	Het
Memo1	A	T	17: 74,565,491 (GRCm39)	L24Q	probably damaging	Het
Mmel1	C	G	4: 154,976,912 (GRCm39)	Q529E	probably benign	Het
Naip5	A	G	13: 100,358,164 (GRCm39)	F1024S	probably damaging	Het
Or4c58	T	C	2: 89,674,759 (GRCm39)	D186G	probably benign	Het
Or7c70	A	T	10: 78,683,155 (GRCm39)	V198E	probably damaging	Het
Paics	A	G	5: 77,107,276 (GRCm39)	K110R	probably benign	Het
Pate13	G	A	9: 35,820,650 (GRCm39)	R34H	probably damaging	Het
Pcdhgc4	C	T	18: 37,950,459 (GRCm39)	S625F	probably damaging	Het
Pnpla8	T	A	12: 44,329,766 (GRCm39)	L106*	probably null	Het
Rabggtb	T	C	3: 153,617,605 (GRCm39)	H31R	probably damaging	Het
Rhot1	G	A	11: 80,148,363 (GRCm39)	C601Y	probably damaging	Het
Rps27	A	G	3: 90,120,309 (GRCm39)	V53A	probably benign	Het
Sdr39u1	C	A	14: 56,135,344 (GRCm39)	G200*	probably null	Het
Sesn1	T	A	10: 41,770,929 (GRCm39)	Y153*	probably null	Het
Slc25a40	A	G	5: 8,493,653 (GRCm39)	T168A	probably damaging	Het
Smoc2	C	T	17: 14,595,730 (GRCm39)	R286*	probably null	Het
Smtnl2	T	A	11: 72,291,200 (GRCm39)	K349N	probably damaging	Het
Snx16	G	T	3: 10,500,509 (GRCm39)	D153E	probably benign	Het
Spata31e5	C	T	1: 28,817,487 (GRCm39)	E182K	probably damaging	Het
Ssu72	A	C	4: 155,816,450 (GRCm39)	N144T	probably benign	Het
Stk40	C	A	4: 126,030,667 (GRCm39)	L296I	probably damaging	Het
Sult3a2	T	C	10: 33,644,254 (GRCm39)	M225V	probably damaging	Het
Syne2	T	C	12: 76,051,441 (GRCm39)	L4057P	probably damaging	Het
Tead1	T	C	7: 112,441,311 (GRCm39)		probably null	Het
Tgs1	T	C	4: 3,605,842 (GRCm39)	S786P	probably damaging	Het
Tmco4	T	C	4: 138,748,172 (GRCm39)	Y251H	probably damaging	Het
Trim14	A	T	4: 46,533,086 (GRCm39)	C76S	probably benign	Het
Tubgcp6	T	A	15: 88,993,231 (GRCm39)	Q506L	possibly damaging	Het
Vmn2r50	A	T	7: 9,781,795 (GRCm39)	F317I	probably damaging	Het
Vwa5a	T	A	9: 38,639,124 (GRCm39)	Y335*	probably null	Het
Zgrf1	C	T	3: 127,389,573 (GRCm39)	T1257I	possibly damaging	Het
Zpr1	A	G	9: 46,184,863 (GRCm39)	N87D	possibly 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
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
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
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'- AAAAGAGCCGGGTCCCAATG -3'
(R):5'- GGGTGTTCAACTAATGCTCCCC -3'

Sequencing Primer
(F):5'- GTCCCAATGGCATGTCCC -3'
(R):5'- GGTGTTCAACTAATGCTCCCCTCTAG -3'

Posted On

2020-01-23