Mutagenetix > Incidental Mutation

Incidental Mutation 'R2049:Tnnt2'

226184

Institutional Source

Beutler Lab

Gene Symbol

Tnnt2

Ensembl Gene

ENSMUSG00000026414

Gene Name

troponin T2, cardiac

Synonyms

cardiac TnT, cTnT, Tnt

MMRRC Submission

040056-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2049 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

135764092-135779998 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

TG to TGG at 135774499 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] [ENSMUST00000188028] [ENSMUST00000189355] [ENSMUST00000189732] [ENSMUST00000189826] [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

probably benign
Transcript: ENSMUST00000112086

SMART Domains

Protein: ENSMUSP00000107716
Gene: ENSMUSG00000026414

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

probably benign
Transcript: ENSMUST00000112087

SMART Domains

Protein: ENSMUSP00000107717
Gene: ENSMUSG00000026414

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178204

SMART Domains

Protein: ENSMUSP00000137579
Gene: ENSMUSG00000026414

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

probably benign
Transcript: ENSMUST00000179863

SMART Domains

Protein: ENSMUSP00000137093
Gene: ENSMUSG00000026414

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

Predicted Effect

probably benign
Transcript: ENSMUST00000188028

SMART Domains

Protein: ENSMUSP00000140941
Gene: ENSMUSG00000026414

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
Pfam:Troponin	110	251	3e-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: 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: ENSMUST00000189826

SMART Domains

Protein: ENSMUSP00000140807
Gene: ENSMUSG00000026414

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188098

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (118/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,822,444 (GRCm39)	R8*	probably null	Het
Abhd17a	A	G	10: 80,421,440 (GRCm39)		probably null	Het
Acsm1	A	G	7: 119,255,262 (GRCm39)	R415G	probably damaging	Het
Acta1	G	T	8: 124,618,803 (GRCm39)	T360N	probably benign	Het
Adam6a	T	A	12: 113,508,049 (GRCm39)	S141T	probably benign	Het
Adgrd1	G	T	5: 129,192,159 (GRCm39)	K76N	probably benign	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Agps	T	A	2: 75,689,270 (GRCm39)	M156K	probably benign	Het
Agxt	A	G	1: 93,065,037 (GRCm39)	I149V	probably benign	Het
Aoc1l1	T	A	6: 48,954,689 (GRCm39)	L609*	probably null	Het
Aqp2	A	G	15: 99,477,247 (GRCm39)	T72A	probably damaging	Het
Arhgap18	T	A	10: 26,725,938 (GRCm39)	D54E	probably benign	Het
Asb8	C	A	15: 98,033,950 (GRCm39)	E202*	probably null	Het
Bmp5	A	G	9: 75,801,072 (GRCm39)	I401V	probably damaging	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cep112	A	G	11: 108,497,151 (GRCm39)	E697G	probably damaging	Het
Cerk	G	A	15: 86,027,009 (GRCm39)	S167L	probably benign	Het
Chrm3	T	A	13: 9,928,371 (GRCm39)	I222F	probably damaging	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Commd10	A	T	18: 47,096,814 (GRCm39)	T74S	probably benign	Het
Cyp4f39	T	C	17: 32,701,112 (GRCm39)	F201L	probably benign	Het
Dennd4a	A	G	9: 64,796,887 (GRCm39)	T860A	possibly damaging	Het
Dlg5	A	T	14: 24,204,715 (GRCm39)	I1253N	probably damaging	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dnah9	A	G	11: 65,935,509 (GRCm39)	M1970T	probably damaging	Het
Dsc3	A	T	18: 20,122,737 (GRCm39)	D62E	possibly damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Dusp7	C	T	9: 106,251,096 (GRCm39)	T407M	probably damaging	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Eif1ad8	A	G	12: 87,564,046 (GRCm39)	D127G	unknown	Het
Entpd5	A	G	12: 84,443,632 (GRCm39)	I12T	probably benign	Het
Espn	T	C	4: 152,205,714 (GRCm39)	E408G	probably damaging	Het
Fhip1b	A	T	7: 105,039,046 (GRCm39)	D64E	probably damaging	Het
Gdpd3	A	G	7: 126,367,766 (GRCm39)	T200A	probably damaging	Het
Gli1	A	G	10: 127,172,596 (GRCm39)	L182P	probably damaging	Het
Gm5134	G	A	10: 75,840,718 (GRCm39)	A521T	possibly damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
H2-M10.1	T	C	17: 36,636,108 (GRCm39)	D153G	possibly damaging	Het
Helb	A	T	10: 119,941,926 (GRCm39)	M254K	possibly damaging	Het
I0C0044D17Rik	A	G	4: 98,708,533 (GRCm39)		probably benign	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Igfn1	T	A	1: 135,898,376 (GRCm39)	Q730L	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Jmjd1c	T	A	10: 66,993,777 (GRCm39)	L86*	probably null	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kif14	A	G	1: 136,414,818 (GRCm39)	N768S	probably benign	Het
Kif14	A	G	1: 136,437,905 (GRCm39)	E1199G	possibly damaging	Het
Klhl29	A	G	12: 5,187,876 (GRCm39)	S163P	probably damaging	Het
Kmt2c	C	A	5: 25,490,077 (GRCm39)	Q4287H	probably damaging	Het
Krt82	T	A	15: 101,453,591 (GRCm39)	Q265L	probably damaging	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myom2	T	G	8: 15,156,379 (GRCm39)	I742S	probably damaging	Het
Narf	A	T	11: 121,141,195 (GRCm39)	R310*	probably null	Het
Nktr	T	A	9: 121,570,760 (GRCm39)	D167E	probably damaging	Het
Nle1	A	G	11: 82,796,192 (GRCm39)	W183R	probably damaging	Het
Npas3	A	G	12: 54,108,871 (GRCm39)	N425S	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or4a27	A	T	2: 88,559,089 (GRCm39)	Y285N	probably damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4d5	T	A	9: 40,012,415 (GRCm39)	I124L	probably benign	Het
Or6c69	A	G	10: 129,748,036 (GRCm39)	V37A	probably benign	Het
Or8g52	A	T	9: 39,631,411 (GRCm39)	D296V	probably damaging	Het
Or8s2	G	A	15: 98,276,277 (GRCm39)	T238I	possibly damaging	Het
Otol1	T	A	3: 69,926,169 (GRCm39)	F115I	probably benign	Het
Parp8	T	A	13: 117,031,422 (GRCm39)	D430V	probably benign	Het
Pex7	T	A	10: 19,770,061 (GRCm39)	H123L	probably damaging	Het
Pkhd1l1	T	A	15: 44,410,909 (GRCm39)		probably benign	Het
Pkhd1l1	G	A	15: 44,445,137 (GRCm39)	D3670N	probably damaging	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Plekha4	A	G	7: 45,203,222 (GRCm39)	D704G	probably benign	Het
Plxnb2	T	A	15: 89,043,205 (GRCm39)	N1453I	probably damaging	Het
Pms1	T	A	1: 53,321,147 (GRCm39)	I29F	probably damaging	Het
Ppp1r1a	G	A	15: 103,439,833 (GRCm39)	T153I	probably damaging	Het
Pramel12	T	A	4: 143,143,441 (GRCm39)	L69Q	probably damaging	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptpre	A	G	7: 135,272,424 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,376,465 (GRCm39)	I1312N	probably damaging	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rims1	C	T	1: 22,635,516 (GRCm39)	C155Y	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Sltm	G	A	9: 70,488,583 (GRCm39)	G578S	probably benign	Het
Smyd5	A	G	6: 85,421,300 (GRCm39)	E338G	probably benign	Het
Snx2	G	A	18: 53,327,516 (GRCm39)	V81M	probably damaging	Het
Sp2	G	T	11: 96,852,191 (GRCm39)	N244K	probably benign	Het
Sspo	C	A	6: 48,437,697 (GRCm39)		probably benign	Het
Sspo	A	C	6: 48,440,465 (GRCm39)	D1568A	probably benign	Het
Ssrp1	T	C	2: 84,871,771 (GRCm39)		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Syt7	G	A	19: 10,416,577 (GRCm39)	R138Q	probably benign	Het
Taar7f	T	C	10: 23,926,323 (GRCm39)	Y306H	possibly damaging	Het
Tbccd1	T	C	16: 22,637,291 (GRCm39)		probably null	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tex261	A	G	6: 83,749,241 (GRCm39)	Y119H	probably damaging	Het
Tmem131l	T	G	3: 83,850,095 (GRCm39)	E234D	probably damaging	Het
Top6bl	A	G	19: 4,748,633 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257 (GRCm39)	A157V	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Uso1	G	A	5: 92,329,795 (GRCm39)	G427R	probably damaging	Het
Usp15	A	T	10: 122,955,042 (GRCm39)	V912D	probably damaging	Het
Vmn1r20	T	C	6: 57,408,943 (GRCm39)	S90P	probably damaging	Het
Vmn1r32	T	C	6: 66,530,545 (GRCm39)	K77R	probably damaging	Het
Vmn2r100	A	G	17: 19,742,312 (GRCm39)	K229E	probably benign	Het
Vmn2r106	A	G	17: 20,488,566 (GRCm39)	V611A	possibly damaging	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zbtb21	G	T	16: 97,751,355 (GRCm39)	P804H	probably damaging	Het
Zdhhc3	T	C	9: 122,929,602 (GRCm39)	D11G	probably damaging	Het
Zfhx3	A	G	8: 109,671,809 (GRCm39)	T1324A	probably benign	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,553,091 (GRCm39)		probably benign	Het
Zfp608	G	T	18: 55,028,637 (GRCm39)	L1259I	probably damaging	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
R0827:Tnnt2	UTSW	1	135,771,534 (GRCm39)	intron	probably benign
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
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'- ACACAGCCAGCCATTCTCTG -3'
(R):5'- TTGGTAGTGAAGTCAAGGCGAC -3'

Sequencing Primer
(F):5'- CAGGTCACCTTCATGCTTGTTGG -3'
(R):5'- TCAAGGCGACGTTCAGCTC -3'

Posted On

2014-09-17