Mutagenetix > Incidental Mutation

Incidental Mutation 'R7208:Tnnt2'

574578

Institutional Source

Beutler Lab

Gene Symbol

Tnnt2

Ensembl Gene

ENSMUSG00000026414

Gene Name

troponin T2, cardiac

Synonyms

cardiac TnT, cTnT, Tnt

MMRRC Submission

045285-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135764092-135779998 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 135778114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139669 (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 null
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 null
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 null
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 null
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 null
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 null
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 null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,074,629 (GRCm39)	K854E	probably damaging	Het
Abcd2	G	T	15: 91,074,885 (GRCm39)	Y309*	probably null	Het
Ache	G	A	5: 137,289,751 (GRCm39)	G360D	probably damaging	Het
Acot12	T	C	13: 91,929,361 (GRCm39)	L396P	probably benign	Het
Acox2	T	G	14: 8,241,303 (GRCm38)	D603A	probably benign	Het
Adam3	C	A	8: 25,201,417 (GRCm39)	K245N	probably damaging	Het
Ankhd1	T	C	18: 36,758,081 (GRCm39)	I925T	probably benign	Het
Arhgap27	C	T	11: 103,251,585 (GRCm39)	V48M	probably damaging	Het
Atm	A	T	9: 53,423,308 (GRCm39)		probably null	Het
B4galt4	T	A	16: 38,574,302 (GRCm39)	F92Y	probably damaging	Het
Brwd1	C	T	16: 95,837,159 (GRCm39)	R891Q	probably damaging	Het
Calcr	T	C	6: 3,687,612 (GRCm39)	Q462R	probably benign	Het
Ccdc112	T	C	18: 46,420,698 (GRCm39)	R351G	probably damaging	Het
Ccdc80	T	G	16: 44,917,073 (GRCm39)	S610A	probably benign	Het
Cdh20	C	A	1: 104,881,796 (GRCm39)	N420K	possibly damaging	Het
Cntn3	G	A	6: 102,255,383 (GRCm39)	R172*	probably null	Het
Ctnnd1	G	T	2: 84,452,390 (GRCm39)	Q78K	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,814 (GRCm39)	L41H	probably damaging	Het
Dclk2	A	T	3: 86,706,909 (GRCm39)		probably null	Het
Dmwd	C	T	7: 18,814,234 (GRCm39)	H295Y	probably benign	Het
Dnai2	T	C	11: 114,647,988 (GRCm39)	V588A	unknown	Het
Dnai4	T	G	4: 102,923,549 (GRCm39)	I427L	probably benign	Het
Dtx4	C	T	19: 12,459,437 (GRCm39)		probably null	Het
Dync2h1	C	A	9: 7,141,059 (GRCm39)	D1323Y	probably damaging	Het
Fcgbp	T	A	7: 27,803,446 (GRCm39)	H1683Q	probably benign	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Gm9195	A	G	14: 72,689,192 (GRCm39)	S1876P	possibly damaging	Het
Grhl2	A	C	15: 37,335,980 (GRCm39)	K431T	probably damaging	Het
Grm7	T	G	6: 111,335,530 (GRCm39)	I647S	possibly damaging	Het
Gtf2ird1	T	C	5: 134,439,948 (GRCm39)	N94S	probably benign	Het
Gvin2	A	C	7: 105,551,386 (GRCm39)	S555R	possibly damaging	Het
Hmgcs1	G	T	13: 120,162,620 (GRCm39)	G195W	probably damaging	Het
Hrc	A	T	7: 44,985,989 (GRCm39)	Y380F	possibly damaging	Het
Kcnu1	C	T	8: 26,409,665 (GRCm39)	Q863*	probably null	Het
Lemd2	G	A	17: 27,415,165 (GRCm39)	P300L	probably damaging	Het
Lnpep	A	T	17: 17,773,172 (GRCm39)	Y665*	probably null	Het
Lrfn1	A	G	7: 28,166,564 (GRCm39)	T653A	probably benign	Het
Ly6g6c	A	G	17: 35,286,387 (GRCm39)	T8A	unknown	Het
Mcm5	T	C	8: 75,848,344 (GRCm39)		probably null	Het
Med28	A	T	5: 45,680,794 (GRCm39)	D86V	probably damaging	Het
Mup11	A	G	4: 60,615,725 (GRCm39)	S171P	possibly damaging	Het
Nckap1	A	G	2: 80,370,542 (GRCm39)	F383L	probably benign	Het
Nid1	G	C	13: 13,642,970 (GRCm39)	G303R	probably benign	Het
Nkain3	A	G	4: 20,282,892 (GRCm39)	V147A	probably benign	Het
Or12k8	A	G	2: 36,975,670 (GRCm39)	V30A	probably benign	Het
Pde9a	G	A	17: 31,639,258 (GRCm39)	V63I	possibly damaging	Het
Pdlim2	T	A	14: 70,411,826 (GRCm39)	I69F	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phf20l1	T	C	15: 66,476,638 (GRCm39)	I245T	probably benign	Het
Prmt8	C	T	6: 127,666,792 (GRCm39)	R394H	possibly damaging	Het
Prorp	A	G	12: 55,355,430 (GRCm39)		probably null	Het
Prpf4b	T	A	13: 35,067,994 (GRCm39)	D274E	unknown	Het
Psmd6	A	T	14: 14,112,225 (GRCm38)		probably null	Het
Rgs16	T	C	1: 153,617,416 (GRCm39)	L69P	probably damaging	Het
Robo3	A	T	9: 37,336,020 (GRCm39)	I482N	probably damaging	Het
Scara3	C	T	14: 66,168,715 (GRCm39)	V301I	possibly damaging	Het
Serpina1b	T	A	12: 103,694,553 (GRCm39)	H397L	probably benign	Het
Skint11	T	A	4: 114,088,944 (GRCm39)	L246Q	probably damaging	Het
Skint5	T	A	4: 113,396,536 (GRCm39)	R1212S	unknown	Het
Slc11a2	T	C	15: 100,300,213 (GRCm39)	D348G	probably benign	Het
Slc15a2	T	C	16: 36,576,643 (GRCm39)	K495E	probably benign	Het
Son	T	G	16: 91,458,990 (GRCm39)	D2072E	unknown	Het
Stau1	A	G	2: 166,805,494 (GRCm39)	V34A	probably damaging	Het
Stk3	G	T	15: 35,073,262 (GRCm39)	L153I	possibly damaging	Het
Swi5	A	T	2: 32,177,922 (GRCm39)	V13E	probably benign	Het
Syne2	A	T	12: 76,078,172 (GRCm39)		probably null	Het
Synm	T	C	7: 67,384,663 (GRCm39)	M558V	probably benign	Het
Tep1	T	A	14: 51,062,013 (GRCm39)		probably null	Het
Tmc6	A	G	11: 117,667,151 (GRCm39)	V149A	probably benign	Het
Tmem214	T	A	5: 31,028,065 (GRCm39)	V95E	possibly damaging	Het
Txlna	A	G	4: 129,525,071 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,038,948 (GRCm39)	I841T	probably damaging	Het
Wasf2	G	A	4: 132,923,045 (GRCm39)	V452I	probably damaging	Het
Wdr62	C	T	7: 29,951,761 (GRCm39)	D673N	probably damaging	Het
Wdr95	C	T	5: 149,518,836 (GRCm39)	T559I	probably benign	Het
Zbtb40	A	T	4: 136,726,937 (GRCm39)		probably null	Het
Zfat	T	C	15: 68,051,856 (GRCm39)	E646G	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
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
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
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'- CTCTGTACTCGCAGTGACCATG -3'
(R):5'- CATTAGCTTCTGGATCCCGG -3'

Sequencing Primer
(F):5'- GTGACCATGCCAGGCAAACG -3'
(R):5'- GCCCCCGAGAAAATGAGGC -3'

Posted On

2019-09-18