Mutagenetix > Incidental Mutation

Incidental Mutation 'R8037:Tnni2'

618293

Institutional Source

Beutler Lab

Gene Symbol

Tnni2

Ensembl Gene

ENSMUSG00000031097

Gene Name

troponin I, skeletal, fast 2

Synonyms

MMRRC Submission

067474-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141995553-141998147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141997691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 109 (R109G)

Ref Sequence

ENSEMBL: ENSMUSP00000101591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097939] [ENSMUST00000105971] [ENSMUST00000105973] [ENSMUST00000105976] [ENSMUST00000118276] [ENSMUST00000122393] [ENSMUST00000145287] [ENSMUST00000149529] [ENSMUST00000210239] [ENSMUST00000210746]

AlphaFold

P13412

Predicted Effect

probably benign
Transcript: ENSMUST00000097939

SMART Domains

Protein: ENSMUSP00000095552
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
C2	123	222	1.86e-15	SMART
C2	251	361	8.69e-16	SMART
low complexity region	380	388	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105971
AA Change: R109G

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

SMART Domains

Protein: ENSMUSP00000101591
Gene: ENSMUSG00000031097
AA Change: R109G

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	145	1.1e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105973
AA Change: R117G

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

SMART Domains

Protein: ENSMUSP00000101593
Gene: ENSMUSG00000031097
AA Change: R117G

Domain	Start	End	E-Value	Type
Pfam:Troponin	10	153	1.9e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105976

SMART Domains

Protein: ENSMUSP00000101596
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
C2	123	222	1.86e-15	SMART
C2	251	361	8.69e-16	SMART
low complexity region	380	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118276

SMART Domains

Protein: ENSMUSP00000113545
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
C2	129	228	1.86e-15	SMART
C2	257	367	8.69e-16	SMART
low complexity region	386	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122393

SMART Domains

Protein: ENSMUSP00000112689
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
C2	129	228	1.86e-15	SMART
C2	257	367	8.69e-16	SMART
low complexity region	386	394	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000145287
AA Change: R109G

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

SMART Domains

Protein: ENSMUSP00000121819
Gene: ENSMUSG00000031097
AA Change: R109G

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	135	4.2e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000149529
AA Change: R109G

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

SMART Domains

Protein: ENSMUSP00000122733
Gene: ENSMUSG00000031097
AA Change: R109G

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	145	1.1e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210239
AA Change: R99G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210746

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,243,904 (GRCm39)	W1922C	probably damaging	Het
Acad11	T	A	9: 103,953,035 (GRCm39)	I88N	possibly damaging	Het
Adgrf3	A	T	5: 30,404,510 (GRCm39)	C309S	probably damaging	Het
Ankhd1	T	A	18: 36,771,676 (GRCm39)	V1343E	probably damaging	Het
Aqr	A	T	2: 113,992,161 (GRCm39)	Y72N	probably damaging	Het
Bptf	T	C	11: 106,946,776 (GRCm39)	T2339A	probably damaging	Het
Ccdc121rt3	A	G	5: 112,502,882 (GRCm39)	V274A	probably benign	Het
Ccr8	T	C	9: 119,923,436 (GRCm39)	F184L	probably benign	Het
Dbh	A	G	2: 27,055,700 (GRCm39)	D58G	probably damaging	Het
Depdc5	T	C	5: 33,116,692 (GRCm39)		probably null	Het
Dhdds	G	A	4: 133,724,158 (GRCm39)	T52I	probably benign	Het
Dnmt1	A	C	9: 20,852,860 (GRCm39)	V82G	probably damaging	Het
Efemp2	C	T	19: 5,530,141 (GRCm39)	Q290*	probably null	Het
Eipr1	A	G	12: 28,914,676 (GRCm39)	S277G	probably benign	Het
Fam110b	A	G	4: 5,799,511 (GRCm39)	I310V	possibly damaging	Het
Foxn4	T	C	5: 114,394,658 (GRCm39)	D423G	probably damaging	Het
Fsip2	T	A	2: 82,816,322 (GRCm39)	N4018K	possibly damaging	Het
Gm12887	T	A	4: 121,472,887 (GRCm39)	D85V	probably damaging	Het
Gys2	A	G	6: 142,394,119 (GRCm39)	V473A	probably benign	Het
Hnrnpu	A	T	1: 178,159,917 (GRCm39)	F388Y	unknown	Het
Hoxa5	A	G	6: 52,181,309 (GRCm39)	S8P	probably damaging	Het
Ier5	A	T	1: 154,975,175 (GRCm39)	M1K	probably null	Het
Ighv1-52	A	G	12: 115,109,210 (GRCm39)	F83S	probably damaging	Het
Lrch1	T	C	14: 75,023,794 (GRCm39)	D577G	probably damaging	Het
Lrrk1	A	T	7: 65,935,089 (GRCm39)	M1010K	probably benign	Het
Mttp	T	G	3: 137,796,883 (GRCm39)	N873T	probably damaging	Het
Nphs2	A	G	1: 156,138,400 (GRCm39)	R15G	possibly damaging	Het
Or4a70	A	T	2: 89,324,055 (GRCm39)	N200K	possibly damaging	Het
Or5d16	T	C	2: 87,773,319 (GRCm39)	T218A	probably benign	Het
Or8d6	T	A	9: 39,854,177 (GRCm39)	V207D	probably damaging	Het
Pcdhga8	T	C	18: 37,860,071 (GRCm39)	S376P	probably damaging	Het
Pde3a	A	G	6: 141,429,650 (GRCm39)	N737S	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgap6	T	C	17: 26,336,509 (GRCm39)	L209P	possibly damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rin1	T	A	19: 5,101,852 (GRCm39)	L179Q	probably damaging	Het
Sec63	T	A	10: 42,659,483 (GRCm39)	M57K	probably benign	Het
Senp2	C	T	16: 21,832,888 (GRCm39)	Q59*	probably null	Het
St8sia5	G	A	18: 77,336,238 (GRCm39)	V224I	possibly damaging	Het
Sycp2	A	T	2: 178,045,571 (GRCm39)	D16E	probably damaging	Het
Tab1	A	G	15: 80,044,471 (GRCm39)	T500A	probably benign	Het
Tead1	A	G	7: 112,358,727 (GRCm39)	D13G	possibly damaging	Het
Tecpr2	T	C	12: 110,902,854 (GRCm39)	F860L	probably benign	Het
Tg	A	G	15: 66,560,724 (GRCm39)	M1029V	probably benign	Het
Unc79	A	G	12: 103,016,178 (GRCm39)	K320R	probably damaging	Het
Vmn1r9	T	A	6: 57,047,988 (GRCm39)	V21D	probably benign	Het
Zfp64	A	G	2: 168,741,932 (GRCm39)	F332S	probably damaging	Het

Other mutations in Tnni2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02272:Tnni2	APN	7	141,997,166 (GRCm39)	missense	possibly damaging	0.83
R4925:Tnni2	UTSW	7	141,996,430 (GRCm39)	missense	probably benign	0.25
R5213:Tnni2	UTSW	7	141,997,039 (GRCm39)	splice site	probably null
R5646:Tnni2	UTSW	7	141,997,650 (GRCm39)	missense	probably damaging	1.00
R6643:Tnni2	UTSW	7	141,998,016 (GRCm39)	missense	probably damaging	1.00
R7385:Tnni2	UTSW	7	141,996,915 (GRCm39)	missense	probably benign
R9002:Tnni2	UTSW	7	141,998,013 (GRCm39)	missense	probably damaging	1.00
R9335:Tnni2	UTSW	7	141,998,003 (GRCm39)	missense	probably damaging	0.99
R9339:Tnni2	UTSW	7	141,997,672 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATATTGCATGGGGTGGAGCC -3'
(R):5'- AGGGACTGTAAGTGGACTCTC -3'

Sequencing Primer
(F):5'- TGGCTTGCAGGGTAGCACAG -3'
(R):5'- GTAAGTGGACTCTCCCTCTTGG -3'

Posted On

2020-01-23