Mutagenetix > Incidental Mutation

Incidental Mutation 'R6820:Tpm2'

537558

Institutional Source

Beutler Lab

Gene Symbol

Tpm2

Ensembl Gene

ENSMUSG00000028464

Gene Name

tropomyosin 2, beta

Synonyms

Tpm-2, Trop-2

MMRRC Submission

044932-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.554) question?

Stock #

R6820 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43514711-43523765 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43518443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 221 (Y221H)

Ref Sequence

ENSEMBL: ENSMUSP00000103546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030183] [ENSMUST00000030184] [ENSMUST00000107913] [ENSMUST00000107914] [ENSMUST00000150592]

AlphaFold

P58774

Predicted Effect

probably benign
Transcript: ENSMUST00000030183

SMART Domains

Protein: ENSMUSP00000030183
Gene: ENSMUSG00000028463

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	61	80	N/A	INTRINSIC
Carb_anhydrase	120	369	2.72e-103	SMART
Blast:Carb_anhydrase	378	427	7e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000030184
AA Change: Y221H

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

SMART Domains

Protein: ENSMUSP00000030184
Gene: ENSMUSG00000028464
AA Change: Y221H

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	3.3e-39	PFAM
Pfam:Tropomyosin	48	284	1.5e-97	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107913
AA Change: Y221H

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

SMART Domains

Protein: ENSMUSP00000103546
Gene: ENSMUSG00000028464
AA Change: Y221H

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	6.5e-36	PFAM
Pfam:Tropomyosin	48	284	4.8e-98	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107914
AA Change: Y221H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103547
Gene: ENSMUSG00000028464
AA Change: Y221H

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	153	7.2e-39	PFAM
Pfam:Tropomyosin	48	284	6.3e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150592

SMART Domains

Protein: ENSMUSP00000119908
Gene: ENSMUSG00000028464

Domain	Start	End	E-Value	Type
Pfam:Tropomyosin_1	7	106	2.2e-26	PFAM
Pfam:Tropomyosin	48	106	1.1e-18	PFAM

Meta Mutation Damage Score

0.8943

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: This gene belongs to the tropomyosin family which encodes proteins that bind to actin filaments and stabilize them by regulating access to actin modifying proteins. The encoded protein is a high molecular weight tropomyosin expressed in slow skeletal muscle. In humans, mutations in this gene are associated with nemaline myopathy, cap disease and distal arthrogryposis syndromes. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,673,266 (GRCm39)	N141Y	probably null	Het
Chkb	A	G	15: 89,312,379 (GRCm39)	L46P	probably damaging	Het
Col9a3	G	A	2: 180,248,927 (GRCm39)	V260M	probably damaging	Het
Dna2	T	C	10: 62,800,683 (GRCm39)	I739T	possibly damaging	Het
Dnah17	T	C	11: 117,959,826 (GRCm39)	H2620R	probably damaging	Het
Dsel	A	G	1: 111,787,547 (GRCm39)	V996A	probably damaging	Het
Dst	T	C	1: 34,250,337 (GRCm39)	L1757S	probably damaging	Het
Exoc5	A	T	14: 49,286,387 (GRCm39)		probably null	Het
Fam120a	A	T	13: 49,034,468 (GRCm39)	V1048E	possibly damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fbxw19	T	A	9: 109,311,079 (GRCm39)	T377S	probably benign	Het
Fbxw28	A	T	9: 109,167,493 (GRCm39)	F88Y	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Gtsf1	T	C	15: 103,328,954 (GRCm39)	T92A	probably benign	Het
Hoxc13	A	G	15: 102,830,257 (GRCm39)	Y212C	probably damaging	Het
Itih2	T	C	2: 10,102,909 (GRCm39)	I742V	probably benign	Het
Kat7	T	C	11: 95,174,965 (GRCm39)	T351A	probably damaging	Het
Mlh3	T	C	12: 85,294,497 (GRCm39)	D1233G	probably damaging	Het
Mroh2b	A	G	15: 4,982,756 (GRCm39)	D1525G	probably damaging	Het
Nme5	T	C	18: 34,704,626 (GRCm39)	Y73C	probably damaging	Het
Nr3c2	T	C	8: 77,969,086 (GRCm39)	V957A	probably damaging	Het
Nup153	A	G	13: 46,863,459 (GRCm39)	S301P	probably benign	Het
Obscn	T	C	11: 58,942,019 (GRCm39)	D5013G	probably damaging	Het
Or4f54	C	T	2: 111,123,455 (GRCm39)	P281S	probably damaging	Het
Or5p51	A	G	7: 107,444,298 (GRCm39)	V214A	probably benign	Het
Or8g51	A	G	9: 38,608,771 (GRCm39)	V297A	possibly damaging	Het
Pak1	A	G	7: 97,535,586 (GRCm39)	N226D	probably benign	Het
Pak4	A	G	7: 28,262,461 (GRCm39)	Y384H	probably benign	Het
Pkp3	T	C	7: 140,659,757 (GRCm39)		probably null	Het
Prxl2b	A	T	4: 154,982,623 (GRCm39)	D50E	probably damaging	Het
Psd	G	T	19: 46,309,283 (GRCm39)	A558E	probably damaging	Het
Psmd14	C	A	2: 61,607,068 (GRCm39)	H172N	probably benign	Het
Pygb	G	T	2: 150,658,674 (GRCm39)	W366L	possibly damaging	Het
Rbm39	A	T	2: 156,021,146 (GRCm39)	M1K	probably null	Het
Rnf213	T	C	11: 119,339,664 (GRCm39)	I3421T	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,932,790 (GRCm39)	V88A	probably damaging	Het
Tha1	T	C	11: 117,762,504 (GRCm39)	E80G	probably benign	Het
Tie1	A	G	4: 118,341,583 (GRCm39)	V243A	probably damaging	Het
Tmem215	T	C	4: 40,473,926 (GRCm39)	M1T	probably null	Het
Ubap1	C	T	4: 41,379,854 (GRCm39)	P356L	probably benign	Het
Wbp2nl	G	T	15: 82,197,996 (GRCm39)	A178S	possibly damaging	Het
Wdr54	A	T	6: 83,131,601 (GRCm39)	S139T	probably benign	Het
Wipi2	G	C	5: 142,615,555 (GRCm39)	Q14H	probably benign	Het
Zan	T	C	5: 137,406,106 (GRCm39)		probably benign	Het
Zfp735	A	G	11: 73,579,783 (GRCm39)	M1V	probably null	Het

Other mutations in Tpm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Tpm2	APN	4	43,518,251 (GRCm39)	missense	probably damaging	1.00
IGL01447:Tpm2	APN	4	43,518,251 (GRCm39)	nonsense	probably null
IGL03145:Tpm2	APN	4	43,519,447 (GRCm39)	missense	probably damaging	0.97
PIT4791001:Tpm2	UTSW	4	43,519,263 (GRCm39)	missense	probably benign	0.30
R0970:Tpm2	UTSW	4	43,515,968 (GRCm39)	missense	probably benign	0.02
R2427:Tpm2	UTSW	4	43,523,306 (GRCm39)	missense	probably damaging	1.00
R4835:Tpm2	UTSW	4	43,519,220 (GRCm39)	splice site	probably null
R5249:Tpm2	UTSW	4	43,514,828 (GRCm39)	missense	probably benign
R5519:Tpm2	UTSW	4	43,522,751 (GRCm39)	missense	possibly damaging	0.87
R5568:Tpm2	UTSW	4	43,522,692 (GRCm39)	nonsense	probably null
R5746:Tpm2	UTSW	4	43,519,731 (GRCm39)	missense	possibly damaging	0.90
R5810:Tpm2	UTSW	4	43,518,968 (GRCm39)	unclassified	probably benign
R5850:Tpm2	UTSW	4	43,523,296 (GRCm39)	missense	probably damaging	1.00
R6000:Tpm2	UTSW	4	43,518,301 (GRCm39)	critical splice acceptor site	probably null
R7909:Tpm2	UTSW	4	43,515,939 (GRCm39)	missense	probably benign	0.06
R9473:Tpm2	UTSW	4	43,514,813 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACAGATCTTTCAGCAAACTCTG -3'
(R):5'- GAAATCCCTGGAAGCCCAAG -3'

Sequencing Primer
(F):5'- AAACTCTGCTCGGGTCTCAG -3'
(R):5'- TGGAAGCCCAAGCGGAC -3'

Posted On

2018-10-18