Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Tnni2'

685031

Institutional Source

Beutler Lab

Gene Symbol

Tnni2

Ensembl Gene

ENSMUSG00000031097

Gene Name

troponin I, skeletal, fast 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9002 (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 141998013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 172 (E172G)

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: E172G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101591
Gene: ENSMUSG00000031097
AA Change: E172G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105973
AA Change: E180G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101593
Gene: ENSMUSG00000031097
AA Change: E180G

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 benign
Transcript: ENSMUST00000145287

SMART Domains

Protein: ENSMUSP00000121819
Gene: ENSMUSG00000031097

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149529
AA Change: E172G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122733
Gene: ENSMUSG00000031097
AA Change: E172G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210239
AA Change: E162G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000210746

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 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,926 (GRCm39)	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,843,456 (GRCm39)	D985N	probably benign	Het
Ak5	A	T	3: 152,359,091 (GRCm39)	M207K	probably damaging	Het
Akt1	T	C	12: 112,626,048 (GRCm39)	I75V	probably benign	Het
Ank	T	A	15: 27,544,413 (GRCm39)	L58*	probably null	Het
Ap1g1	A	C	8: 110,581,738 (GRCm39)	T666P	probably benign	Het
Ap3b2	A	T	7: 81,117,192 (GRCm39)	S615T	probably benign	Het
Ash1l	G	T	3: 88,888,715 (GRCm39)	R198L	probably benign	Het
Axl	A	T	7: 25,478,103 (GRCm39)	C199S	probably damaging	Het
C1d	T	C	11: 17,212,787 (GRCm39)	L44S	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col4a4	A	G	1: 82,449,032 (GRCm39)	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,832,061 (GRCm39)	I223N	probably damaging	Het
Efcab3	A	T	11: 104,920,822 (GRCm39)	D4671V	probably damaging	Het
Eml1	T	A	12: 108,504,438 (GRCm39)	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,519,660 (GRCm39)	T282I	probably damaging	Het
Fmo2	A	T	1: 162,705,647 (GRCm39)	C397*	probably null	Het
Gbp10	C	A	5: 105,369,847 (GRCm39)	V262L	probably benign	Het
Gm45871	A	T	18: 90,609,968 (GRCm39)	H402L	probably damaging	Het
Has1	T	C	17: 18,063,912 (GRCm39)	S576G	unknown	Het
Hat1	C	T	2: 71,271,647 (GRCm39)	R407W	probably damaging	Het
Hivep2	G	T	10: 14,008,157 (GRCm39)	R1585L	probably benign	Het
Ifi211	A	G	1: 173,733,894 (GRCm39)	V89A	possibly damaging	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Irf9	T	A	14: 55,845,140 (GRCm39)	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,715,323 (GRCm39)	V68I	probably benign	Het
Kif1b	T	G	4: 149,275,712 (GRCm39)	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,467,053 (GRCm39)	C410Y	probably benign	Het
Klk1b16	T	C	7: 43,790,189 (GRCm39)	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lama5	A	G	2: 179,838,311 (GRCm39)	C855R	probably damaging	Het
Mast3	A	G	8: 71,233,904 (GRCm39)	L947P	probably damaging	Het
Mblac2	C	A	13: 81,860,072 (GRCm39)	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,358,925 (GRCm39)	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,058,939 (GRCm39)	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590 (GRCm38)	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,448,886 (GRCm39)	T363I	probably damaging	Het
Nol10	A	G	12: 17,408,134 (GRCm39)	E120G	probably damaging	Het
Olfml1	T	C	7: 107,189,423 (GRCm39)	S163P	probably damaging	Het
Or2n1c	A	T	17: 38,519,555 (GRCm39)	N140Y	probably benign	Het
Or51a7	A	T	7: 102,614,618 (GRCm39)	I104F	probably damaging	Het
Or6ae1	T	C	7: 139,742,198 (GRCm39)	I222V	probably damaging	Het
Or8b43	T	A	9: 38,360,171 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,241 (GRCm39)	T216A	probably benign	Het
Pde6a	T	A	18: 61,419,060 (GRCm39)	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,802,459 (GRCm39)	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,117,317 (GRCm39)	L1368P		Het
Ppie	T	C	4: 123,024,344 (GRCm39)	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,865,356 (GRCm39)	H657R	probably benign	Het
Sarnp	T	A	10: 128,657,842 (GRCm39)		probably null	Het
Serpinb9c	T	C	13: 33,334,329 (GRCm39)	T266A	probably damaging	Het
Srgap3	T	A	6: 112,757,854 (GRCm39)	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882 (GRCm39)	W717L	probably benign	Het
Tgfbi	A	G	13: 56,771,402 (GRCm39)	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,661,308 (GRCm39)	F624Y	probably damaging	Het
Traf3ip1	T	C	1: 91,433,178 (GRCm39)	S316P	probably benign	Het
Tshr	C	A	12: 91,504,548 (GRCm39)	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,500,542 (GRCm39)	A317E	probably damaging	Het
Usp24	T	C	4: 106,275,412 (GRCm39)	V2229A	possibly damaging	Het
Usp32	G	A	11: 84,944,777 (GRCm39)	R304C	probably damaging	Het
Usp40	C	T	1: 87,935,063 (GRCm39)	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,724,109 (GRCm39)	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,284 (GRCm39)	K676M	probably benign	Het
Vnn1	A	G	10: 23,775,349 (GRCm39)	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,302,176 (GRCm39)	L698P	possibly 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
R8037:Tnni2	UTSW	7	141,997,691 (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'- CCAAGAGGGAGAGTCCACTTAC -3'
(R):5'- CCAGTTACAGGATACAGCCCAG -3'

Sequencing Primer
(F):5'- AGGGAGAGTCCACTTACAGTCC -3'
(R):5'- GATACAGCCCAGGGTCTTTGAATTC -3'

Posted On

2021-10-11