Mutagenetix > Incidental Mutations

Incidental Mutation 'R4835:Tpm2'

374512

Institutional Source

Beutler Lab

Gene Symbol

Tpm2

Ensembl Gene

ENSMUSG00000028464

Gene Name

tropomyosin 2, beta

Synonyms

Trop-2, Tpm-2

MMRRC Submission

042450-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.532) question?

Stock #

R4835 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43514711-43523765 bp(-) (GRCm38)

Type of Mutation

splice site (448 bp from exon)

DNA Base Change (assembly)

T to C at 43519220 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119908 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030184

SMART Domains

Protein: ENSMUSP00000030184
Gene: ENSMUSG00000028464

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 benign
Transcript: ENSMUST00000030184

SMART Domains

Protein: ENSMUSP00000030184
Gene: ENSMUSG00000028464

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 benign
Transcript: ENSMUST00000030184

SMART Domains

Protein: ENSMUSP00000030184
Gene: ENSMUSG00000028464

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 benign
Transcript: ENSMUST00000030184

SMART Domains

Protein: ENSMUSP00000030184
Gene: ENSMUSG00000028464

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 benign
Transcript: ENSMUST00000107913

SMART Domains

Protein: ENSMUSP00000103546
Gene: ENSMUSG00000028464

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 benign
Transcript: ENSMUST00000107913

SMART Domains

Protein: ENSMUSP00000103546
Gene: ENSMUSG00000028464

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 benign
Transcript: ENSMUST00000107913

SMART Domains

Protein: ENSMUSP00000103546
Gene: ENSMUSG00000028464

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 benign
Transcript: ENSMUST00000107913

SMART Domains

Protein: ENSMUSP00000103546
Gene: ENSMUSG00000028464

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 benign
Transcript: ENSMUST00000107914

SMART Domains

Protein: ENSMUSP00000103547
Gene: ENSMUSG00000028464

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: ENSMUST00000107914

SMART Domains

Protein: ENSMUSP00000103547
Gene: ENSMUSG00000028464

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: ENSMUST00000107914

SMART Domains

Protein: ENSMUSP00000103547
Gene: ENSMUSG00000028464

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: ENSMUST00000107914

SMART Domains

Protein: ENSMUSP00000103547
Gene: ENSMUSG00000028464

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

noncoding transcript
Transcript: ENSMUST00000133355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150262

Predicted Effect

probably null
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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (96/98)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,574,901		noncoding transcript	Het
4933434E20Rik	A	G	3: 90,063,209	N17D	probably benign	Het
A1bg	T	C	15: 60,920,251	D176G	probably benign	Het
Abcg5	A	T	17: 84,658,648	M428K	possibly damaging	Het
Adam1a	A	T	5: 121,519,689	C514S	probably damaging	Het
Angptl3	A	G	4: 99,037,412	Q325R	probably benign	Het
Ankrd26	C	T	6: 118,548,850	W378*	probably null	Het
Apob	T	C	12: 8,015,391	V4087A	possibly damaging	Het
Auts2	A	G	5: 131,466,093	I117T	probably damaging	Het
AW146154	T	A	7: 41,480,468	E408V	probably damaging	Het
Bicd1	A	T	6: 149,484,090	N107I	probably benign	Het
Blm	T	C	7: 80,509,546	S281G	probably benign	Het
Btaf1	T	A	19: 37,002,458	D1542E	probably benign	Het
C2cd2l	A	G	9: 44,315,145		probably null	Het
Capn8	C	A	1: 182,604,551	N362K	probably damaging	Het
Ccdc14	T	G	16: 34,705,038	S186A	probably damaging	Het
Cdca4	A	G	12: 112,821,547	L187P	probably damaging	Het
Chil6	T	A	3: 106,405,974	K20*	probably null	Het
Cmss1	A	T	16: 57,316,182	L109*	probably null	Het
Cmtm6	G	T	9: 114,731,342	W36L	probably benign	Het
Cnksr3	T	G	10: 7,160,757	I35L	possibly damaging	Het
Col4a2	G	T	8: 11,423,570	G534*	probably null	Het
Col5a1	T	G	2: 28,025,644	V180G	probably damaging	Het
Ctnna3	T	C	10: 63,581,944	F154L	probably benign	Het
Fabp7	G	A	10: 57,785,580	V50M	possibly damaging	Het
Fam170a	T	A	18: 50,281,983	V232D	probably damaging	Het
Fam186a	T	G	15: 99,945,808	T852P	unknown	Het
Fam20a	T	C	11: 109,673,563	I455V	probably benign	Het
Fbxl6	C	T	15: 76,536,804	V324M	probably damaging	Het
Galnt18	T	C	7: 111,779,523	T9A	probably damaging	Het
Golgb1	T	A	16: 36,891,407	M191K	possibly damaging	Het
Gpld1	A	G	13: 24,982,716	T650A	probably benign	Het
Gprc5d	A	G	6: 135,116,517	F131L	probably benign	Het
H2afv	C	T	11: 6,439,437	G7E	unknown	Het
Haus4	A	T	14: 54,545,835		probably null	Het
Helq	A	G	5: 100,774,163	I725T	possibly damaging	Het
Igsf23	T	A	7: 19,941,830	D117V	possibly damaging	Het
Kiz	A	T	2: 146,942,088	S514C	probably damaging	Het
Klhl6	A	T	16: 19,957,033	N258K	probably benign	Het
Krt72	G	C	15: 101,781,073		probably null	Het
Large1	A	T	8: 73,048,347	I245N	probably damaging	Het
Lrrc31	T	C	3: 30,679,157	I469M	probably damaging	Het
Lypd4	T	A	7: 24,866,696	I68F	probably benign	Het
Mast1	A	G	8: 84,923,779	S442P	probably damaging	Het
Mmp20	T	A	9: 7,645,299	H283Q	probably benign	Het
Mrps5	G	A	2: 127,603,707	V385M	possibly damaging	Het
Ms4a15	T	C	19: 10,979,226	K241E	possibly damaging	Het
Myt1	A	G	2: 181,797,462	E259G	probably damaging	Het
Myt1l	C	A	12: 29,895,305	T1023K	unknown	Het
Ncapd3	T	C	9: 27,086,046	L1221P	probably damaging	Het
Ncoa6	A	G	2: 155,407,133	V1417A	possibly damaging	Het
Nmnat1	A	G	4: 149,473,345	V80A	possibly damaging	Het
Nwd2	A	G	5: 63,807,846	E1591G	probably benign	Het
Olfr1057	A	G	2: 86,374,509	L301S	possibly damaging	Het
Olfr455	A	G	6: 42,538,836	F62S	probably damaging	Het
Osbpl1a	A	T	18: 12,768,536		probably null	Het
Papln	T	C	12: 83,774,420	I204T	probably damaging	Het
Phf1	A	G	17: 26,934,678	T97A	probably benign	Het
Plxnb1	A	G	9: 109,105,374	D890G	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Rbp2	G	A	9: 98,507,823	C96Y	probably damaging	Het
Rgmb	A	T	17: 15,807,362	M365K	possibly damaging	Het
Ric1	A	G	19: 29,595,536	N792S	possibly damaging	Het
Ruvbl1	T	C	6: 88,497,229	Y405H	possibly damaging	Het
Scaf4	A	G	16: 90,250,307	M394T	unknown	Het
Siglech	T	A	7: 55,768,429	C48*	probably null	Het
Skiv2l	A	G	17: 34,842,921	V695A	possibly damaging	Het
Slc2a5	A	G	4: 150,140,005	T320A	probably benign	Het
Slc6a7	T	C	18: 61,002,205	Y417C	probably benign	Het
Sox21	A	G	14: 118,234,924	C238R	possibly damaging	Het
Tbata	A	T	10: 61,183,353	K109N	probably damaging	Het
Tecpr2	T	G	12: 110,954,730	S1246A	probably benign	Het
Tekt3	A	G	11: 63,081,259	D247G	probably benign	Het
Tenm3	A	T	8: 48,313,236		probably null	Het
Thada	A	T	17: 84,441,104		probably null	Het
Tpcn2	C	T	7: 145,272,351	G204R	probably damaging	Het
Trbv24	T	C	6: 41,218,092		probably benign	Het
Tyw1	A	G	5: 130,277,058	R341G	probably benign	Het
Vmn1r183	T	G	7: 24,055,139	N122K	probably benign	Het
Vmn2r61	T	A	7: 42,267,035	H357Q	possibly damaging	Het
Vps13b	C	T	15: 35,869,372	T2674I	probably damaging	Het
Vps13b	T	C	15: 35,910,293	L3401P	probably benign	Het
Vps16	T	G	2: 130,438,300		probably benign	Het
Vrtn	T	A	12: 84,649,694	I406N	probably damaging	Het
Vwa8	A	T	14: 78,934,613	Y278F	probably benign	Het
Washc4	A	T	10: 83,579,512	I789F	possibly damaging	Het
Zbtb20	C	A	16: 43,618,398	T627K	probably damaging	Het
Zfyve16	A	T	13: 92,522,185	I406K	probably benign	Het
Zfyve9	A	C	4: 108,717,998	S629A	possibly damaging	Het
Zpld1	A	T	16: 55,248,255	N164K	probably damaging	Het

Other mutations in Tpm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Tpm2	APN	4	43518251	missense	probably damaging	1.00
IGL01447:Tpm2	APN	4	43518251	nonsense	probably null
IGL03145:Tpm2	APN	4	43519447	missense	probably damaging	0.97
PIT4791001:Tpm2	UTSW	4	43519263	missense	probably benign	0.30
R0970:Tpm2	UTSW	4	43515968	missense	probably benign	0.02
R2427:Tpm2	UTSW	4	43523306	missense	probably damaging	1.00
R5249:Tpm2	UTSW	4	43514828	missense	probably benign
R5519:Tpm2	UTSW	4	43522751	missense	possibly damaging	0.87
R5568:Tpm2	UTSW	4	43522692	nonsense	probably null
R5746:Tpm2	UTSW	4	43519731	missense	possibly damaging	0.90
R5810:Tpm2	UTSW	4	43518968	unclassified	probably benign
R5850:Tpm2	UTSW	4	43523296	missense	probably damaging	1.00
R6000:Tpm2	UTSW	4	43518301	critical splice acceptor site	probably null
R6820:Tpm2	UTSW	4	43518443	missense	probably damaging	1.00
R7909:Tpm2	UTSW	4	43515939	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GAGGCTATCAGCGACTTGAG -3'
(R):5'- GGACTCAGACCGCAAATATGAG -3'

Sequencing Primer
(F):5'- TGGTCCATGGTTCGAAGCTCC -3'
(R):5'- AAATATGAGGAGGTGCCGGTCTTG -3'

Posted On

2016-03-16