Mutagenetix > Incidental Mutation

Incidental Mutation 'R0827:Tnnt2'

78274

Institutional Source

Beutler Lab

Gene Symbol

Tnnt2

Ensembl Gene

ENSMUSG00000026414

Gene Name

troponin T2, cardiac

Synonyms

cardiac TnT, cTnT, Tnt

MMRRC Submission

039007-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0827 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135764092-135779998 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 135771534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027671] [ENSMUST00000112085] [ENSMUST00000112086] [ENSMUST00000112087] [ENSMUST00000178204] [ENSMUST00000178854] [ENSMUST00000179863] [ENSMUST00000189826] [ENSMUST00000188028] [ENSMUST00000189732] [ENSMUST00000189355] [ENSMUST00000190451]

AlphaFold

P50752

Predicted Effect

probably benign
Transcript: ENSMUST00000027671

SMART Domains

Protein: ENSMUSP00000027671
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC
Pfam:Troponin	96	234	1e-33	PFAM
Pfam:Troponin	226	289	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112085

SMART Domains

Protein: ENSMUSP00000107715
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
low complexity region	20	54	N/A	INTRINSIC
Pfam:Troponin	100	238	2.4e-33	PFAM
Pfam:Troponin	230	293	2.7e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000112086
AA Change: S21G

SMART Domains

Protein: ENSMUSP00000107716
Gene: ENSMUSG00000026414
AA Change: S21G

Domain	Start	End	E-Value	Type
low complexity region	3	58	N/A	INTRINSIC
Pfam:Troponin	106	244	2.5e-33	PFAM
Pfam:Troponin	236	299	2.8e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000112087
AA Change: S21G

SMART Domains

Protein: ENSMUSP00000107717
Gene: ENSMUSG00000026414
AA Change: S21G

Domain	Start	End	E-Value	Type
coiled coil region	1	37	N/A	INTRINSIC
Pfam:Troponin	106	250	1.1e-38	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000178204
AA Change: S25G

SMART Domains

Protein: ENSMUSP00000137579
Gene: ENSMUSG00000026414
AA Change: S25G

Domain	Start	End	E-Value	Type
coiled coil region	1	38	N/A	INTRINSIC
Pfam:Troponin	110	245	3.8e-34	PFAM
Pfam:Troponin	238	300	4.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178854

SMART Domains

Protein: ENSMUSP00000136265
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	35	N/A	INTRINSIC
Pfam:Troponin	100	244	1.7e-39	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000179863
AA Change: S25G

SMART Domains

Protein: ENSMUSP00000137093
Gene: ENSMUSG00000026414
AA Change: S25G

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
Pfam:Troponin	110	251	3e-39	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000189826
AA Change: S25G

SMART Domains

Protein: ENSMUSP00000140807
Gene: ENSMUSG00000026414
AA Change: S25G

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
Pfam:Troponin	110	201	1.7e-20	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000188028
AA Change: S25G

SMART Domains

Protein: ENSMUSP00000140941
Gene: ENSMUSG00000026414
AA Change: S25G

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
Pfam:Troponin	110	251	3e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191055

Predicted Effect

probably benign
Transcript: ENSMUST00000189732

SMART Domains

Protein: ENSMUSP00000139669
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	35	N/A	INTRINSIC
Pfam:Troponin	100	244	1.7e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189355

SMART Domains

Protein: ENSMUSP00000139919
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC
Pfam:Troponin	96	240	1.6e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190451

SMART Domains

Protein: ENSMUSP00000140282
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	31	N/A	INTRINSIC
PDB:2Z5H\|T	85	114	3e-7	PDB

Meta Mutation Damage Score

0.0632

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.6%

Validation Efficiency

100% (88/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during and prior to organogenesis and abnormal heart development. Mice homozygous for an allele that lacks the lysine residue at position 210 exhibit dilated cardiomyopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 78,749,419 (GRCm39)	S1397P	probably benign	Het
Adamts15	T	C	9: 30,832,776 (GRCm39)	Y253C	probably damaging	Het
Ankk1	A	G	9: 49,333,037 (GRCm39)	I149T	possibly damaging	Het
Ankrd63	A	G	2: 118,533,034 (GRCm39)	S296P	possibly damaging	Het
Arpc1b	T	G	5: 145,062,566 (GRCm39)	C227G	probably benign	Het
B4gat1	A	G	19: 5,089,725 (GRCm39)	R241G	possibly damaging	Het
Ccar2	T	C	14: 70,377,287 (GRCm39)	N751D	probably benign	Het
Cd55b	T	C	1: 130,341,973 (GRCm39)	I221M	probably damaging	Het
Cntn5	A	G	9: 9,666,943 (GRCm39)	V1032A	possibly damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Colec10	G	A	15: 54,325,980 (GRCm39)	C270Y	probably damaging	Het
Ctnnbl1	C	T	2: 157,641,337 (GRCm39)		probably benign	Het
Cyp2j12	T	G	4: 96,001,099 (GRCm39)		probably benign	Het
Dennd5a	G	A	7: 109,498,938 (GRCm39)	T999M	probably damaging	Het
Dusp13b	C	A	14: 21,792,839 (GRCm39)	V29L	probably benign	Het
Efr3a	A	C	15: 65,725,400 (GRCm39)	D83A	possibly damaging	Het
Elmod2	A	G	8: 84,043,424 (GRCm39)		probably null	Het
Eml3	C	A	19: 8,915,830 (GRCm39)	T640K	probably damaging	Het
Eps8l1	T	C	7: 4,480,388 (GRCm39)	V543A	possibly damaging	Het
Ermn	T	C	2: 57,938,263 (GRCm39)	K117E	probably damaging	Het
F830045P16Rik	A	G	2: 129,314,696 (GRCm39)	S194P	probably benign	Het
Faim2	A	G	15: 99,422,617 (GRCm39)	V60A	probably benign	Het
Fancd2	G	A	6: 113,563,210 (GRCm39)		probably null	Het
Fbxo43	A	T	15: 36,163,115 (GRCm39)	S31T	possibly damaging	Het
Gab2	G	A	7: 96,949,539 (GRCm39)	R411Q	probably damaging	Het
Gpm6a	A	T	8: 55,511,918 (GRCm39)	D264V	probably damaging	Het
H1f6	A	G	13: 23,880,204 (GRCm39)	D119G	probably benign	Het
Hsp90aa1	T	C	12: 110,659,129 (GRCm39)	E556G	probably benign	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnc3	A	G	7: 44,244,630 (GRCm39)	T307A	probably damaging	Het
Kin	C	A	2: 10,095,187 (GRCm39)		probably benign	Het
Knl1	T	C	2: 118,919,382 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,386 (GRCm39)	V1404M	probably damaging	Het
Lrrc71	T	A	3: 87,649,952 (GRCm39)		probably null	Het
Med13l	T	C	5: 118,864,312 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,497,879 (GRCm39)	D39G	probably damaging	Het
Mlxipl	T	C	5: 135,161,592 (GRCm39)	S504P	probably benign	Het
Myo3a	T	G	2: 22,448,227 (GRCm39)	Y1D	probably damaging	Het
Nek1	A	G	8: 61,558,682 (GRCm39)		probably benign	Het
Nfkbiz	T	C	16: 55,636,730 (GRCm39)	R524G	probably damaging	Het
Npbwr1	T	C	1: 5,987,008 (GRCm39)	T169A	possibly damaging	Het
Nuggc	T	C	14: 65,846,340 (GRCm39)	Y84H	probably damaging	Het
Nxph3	G	A	11: 95,402,252 (GRCm39)	S54L	probably benign	Het
Or13a21	A	G	7: 139,999,380 (GRCm39)	F102S	probably damaging	Het
Or9e1	T	C	11: 58,732,597 (GRCm39)	I219T	probably damaging	Het
Ostn	A	G	16: 27,143,381 (GRCm39)	N70D	probably damaging	Het
Pate7	A	T	9: 35,689,147 (GRCm39)	L12Q	probably damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pnpla6	A	T	8: 3,567,618 (GRCm39)	M109L	possibly damaging	Het
Ppil6	T	A	10: 41,370,500 (GRCm39)		probably benign	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Ptprd	A	T	4: 76,047,152 (GRCm39)	D371E	probably damaging	Het
Ripor2	T	A	13: 24,878,169 (GRCm39)	F315I	probably damaging	Het
Rmi2	G	A	16: 10,653,104 (GRCm39)	G51S	probably damaging	Het
Scg3	A	G	9: 75,590,979 (GRCm39)	I10T	possibly damaging	Het
Scn9a	T	A	2: 66,366,468 (GRCm39)	K761*	probably null	Het
Scyl2	A	G	10: 89,493,727 (GRCm39)	L347P	possibly damaging	Het
Sh3d21	A	G	4: 126,046,064 (GRCm39)		probably benign	Het
Shc1	T	A	3: 89,334,090 (GRCm39)		probably null	Het
Slbp	A	G	5: 33,801,166 (GRCm39)	S182P	probably damaging	Het
Slc24a1	C	T	9: 64,835,472 (GRCm39)	G885D	probably benign	Het
Slc24a3	T	C	2: 145,360,412 (GRCm39)		probably benign	Het
Sowahb	T	G	5: 93,191,145 (GRCm39)	N525H	probably damaging	Het
Sppl3	T	A	5: 115,220,392 (GRCm39)	C101*	probably null	Het
Srsf5	A	G	12: 80,996,314 (GRCm39)	K163E	probably damaging	Het
Sult2a4	A	G	7: 13,718,886 (GRCm39)	I119T	probably benign	Het
Svep1	A	G	4: 58,053,113 (GRCm39)		probably benign	Het
Tas1r3	G	A	4: 155,945,326 (GRCm39)	R632W	probably benign	Het
Tlr4	T	A	4: 66,752,117 (GRCm39)		probably null	Het
Tmf1	A	C	6: 97,135,011 (GRCm39)	L1001*	probably null	Het
Trank1	G	A	9: 111,178,485 (GRCm39)		probably benign	Het
Trdn	A	T	10: 33,275,154 (GRCm39)		probably benign	Het
Trmt6	A	T	2: 132,657,754 (GRCm39)	V34E	probably damaging	Het
Trrap	T	C	5: 144,751,640 (GRCm39)	F1699L	probably benign	Het
Ttk	A	G	9: 83,725,968 (GRCm39)	R250G	probably benign	Het
Ttn	T	A	2: 76,640,248 (GRCm39)	I13787F	probably damaging	Het
Uggt1	T	A	1: 36,195,394 (GRCm39)		probably null	Het
Ugt2b35	T	A	5: 87,155,989 (GRCm39)		probably benign	Het
Ugt2b36	C	A	5: 87,214,234 (GRCm39)	R470L	possibly damaging	Het
Unk	A	G	11: 115,943,935 (GRCm39)	D352G	possibly damaging	Het
Vmn2r77	G	T	7: 86,451,224 (GRCm39)	C370F	probably damaging	Het
Vmn2r85	A	G	10: 130,265,387 (GRCm39)	I32T	possibly damaging	Het
Zfp637	A	G	6: 117,822,405 (GRCm39)	I178V	possibly damaging	Het
Zfp943	A	G	17: 22,211,071 (GRCm39)		probably null	Het
Zyg11a	A	G	4: 108,067,239 (GRCm39)		probably benign	Het

Other mutations in Tnnt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Tnnt2	APN	1	135,779,440 (GRCm39)	missense	probably damaging	1.00
IGL00885:Tnnt2	APN	1	135,774,502 (GRCm39)	splice site	probably benign
IGL02223:Tnnt2	APN	1	135,769,753 (GRCm39)	intron	probably benign
IGL03094:Tnnt2	APN	1	135,777,200 (GRCm39)	critical splice donor site	probably null
R1469:Tnnt2	UTSW	1	135,779,793 (GRCm39)	missense	possibly damaging	0.83
R1469:Tnnt2	UTSW	1	135,779,793 (GRCm39)	missense	possibly damaging	0.83
R1478:Tnnt2	UTSW	1	135,775,764 (GRCm39)	missense	probably benign	0.40
R1728:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1729:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1730:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1739:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1762:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1783:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1784:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1785:Tnnt2	UTSW	1	135,773,244 (GRCm39)	intron	probably benign
R1891:Tnnt2	UTSW	1	135,768,597 (GRCm39)	critical splice acceptor site	probably null
R2049:Tnnt2	UTSW	1	135,774,499 (GRCm39)	splice site	probably benign
R2104:Tnnt2	UTSW	1	135,771,547 (GRCm39)	intron	probably benign
R2130:Tnnt2	UTSW	1	135,774,499 (GRCm39)	splice site	probably benign
R2141:Tnnt2	UTSW	1	135,774,499 (GRCm39)	splice site	probably benign
R2225:Tnnt2	UTSW	1	135,771,529 (GRCm39)	intron	probably benign
R2227:Tnnt2	UTSW	1	135,771,529 (GRCm39)	intron	probably benign
R2504:Tnnt2	UTSW	1	135,779,803 (GRCm39)	missense	probably damaging	0.96
R4883:Tnnt2	UTSW	1	135,775,496 (GRCm39)	nonsense	probably null
R5963:Tnnt2	UTSW	1	135,771,600 (GRCm39)	intron	probably benign
R6082:Tnnt2	UTSW	1	135,777,172 (GRCm39)	missense	probably benign	0.30
R6261:Tnnt2	UTSW	1	135,778,292 (GRCm39)	splice site	probably null
R7208:Tnnt2	UTSW	1	135,778,114 (GRCm39)	splice site	probably null
R7241:Tnnt2	UTSW	1	135,779,444 (GRCm39)	missense	probably damaging	1.00
R9038:Tnnt2	UTSW	1	135,774,484 (GRCm39)	missense	possibly damaging	0.78
R9140:Tnnt2	UTSW	1	135,768,635 (GRCm39)	missense
R9515:Tnnt2	UTSW	1	135,768,640 (GRCm39)	missense	unknown
R9530:Tnnt2	UTSW	1	135,779,793 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- ACGAGGAGTGAGGCTGCCATATTG -3'
(R):5'- GTCCCCACATGAACACTGACATGAG -3'

Sequencing Primer
(F):5'- AGGCTGCCATATTGCTTGAATG -3'
(R):5'- GGTTTGTTCCTATCACAGGAATCC -3'

Posted On

2013-10-16