Mutagenetix > Incidental Mutation

Incidental Mutation 'R1776:Tmc2'

196995

Institutional Source

Beutler Lab

Gene Symbol

Tmc2

Ensembl Gene

ENSMUSG00000060332

Gene Name

transmembrane channel-like gene family 2

Synonyms

MMRRC Submission

039807-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R1776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130195194-130264445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130234869 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 372 (I372F)

Ref Sequence

ENSEMBL: ENSMUSP00000125843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077988] [ENSMUST00000166774]

AlphaFold

Q8R4P4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077988
AA Change: I372F

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

SMART Domains

Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: I372F

Domain	Start	End	E-Value	Type
transmembrane domain	236	258	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
transmembrane domain	412	434	N/A	INTRINSIC
transmembrane domain	488	507	N/A	INTRINSIC
low complexity region	541	553	N/A	INTRINSIC
Pfam:TMC	556	671	8.6e-41	PFAM
transmembrane domain	676	698	N/A	INTRINSIC
transmembrane domain	735	757	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166774
AA Change: I372F

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

SMART Domains

Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: I372F

Domain	Start	End	E-Value	Type
transmembrane domain	236	258	N/A	INTRINSIC
transmembrane domain	317	339	N/A	INTRINSIC
transmembrane domain	412	434	N/A	INTRINSIC
transmembrane domain	488	507	N/A	INTRINSIC
low complexity region	541	553	N/A	INTRINSIC
Pfam:TMC	556	671	1.2e-36	PFAM
transmembrane domain	676	698	N/A	INTRINSIC
transmembrane domain	735	757	N/A	INTRINSIC

Meta Mutation Damage Score

0.8749

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is necesssary for mechanotransduction in cochlear hair cells of the inner ear. Mutations in this gene may underlie hereditary disorders of balance and hearing. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele display normal hearing and motor behavior. Cochlear hair cells show partial resistance to gentamicin induced toxicity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,875,228		noncoding transcript	Het
9430097D07Rik	T	C	2: 32,574,755		probably benign	Het
A2m	C	G	6: 121,641,424	F225L	probably damaging	Het
Adamts19	T	A	18: 58,954,620	I574N	probably damaging	Het
AI314180	A	G	4: 58,879,100	I63T	probably damaging	Het
Ankfn1	T	C	11: 89,526,474	D104G	possibly damaging	Het
Ankhd1	T	A	18: 36,647,308	N1804K	probably benign	Het
Ankle1	G	T	8: 71,409,274	V474F	probably damaging	Het
Arfgap3	A	G	15: 83,343,139	V24A	probably benign	Het
Asph	A	T	4: 9,598,773	S149R	probably damaging	Het
Cass4	A	T	2: 172,427,695	I568L	probably benign	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Cdx1	G	A	18: 61,036,014	A36V	probably benign	Het
Cep57	A	T	9: 13,818,874	S123T	probably damaging	Het
Clca3a2	T	A	3: 144,813,920	Q231L	probably damaging	Het
Clcnkb	T	C	4: 141,415,189		probably benign	Het
Crabp2	C	A	3: 87,952,994	T125K	probably benign	Het
Dennd3	A	G	15: 73,555,101	T776A	possibly damaging	Het
Dnajb6	T	C	5: 29,785,093		probably benign	Het
Dsp	T	A	13: 38,196,617	I1847N	probably damaging	Het
Dync1h1	T	C	12: 110,632,928		probably benign	Het
Fbn1	A	C	2: 125,321,734	F2067L	possibly damaging	Het
Fbxo16	T	A	14: 65,295,386		probably null	Het
Gm3604	C	A	13: 62,370,074	G157*	probably null	Het
Gm5250	A	G	1: 13,062,340		noncoding transcript	Het
Gpam	A	G	19: 55,078,575	S503P	possibly damaging	Het
Herc4	T	A	10: 63,264,171	C124*	probably null	Het
Ift27	T	C	15: 78,165,981	D76G	probably null	Het
Igdcc3	C	T	9: 65,182,752	Q550*	probably null	Het
Igsf6	T	A	7: 121,068,299	I165F	probably damaging	Het
Il31ra	T	C	13: 112,541,239	I173M	probably damaging	Het
Kbtbd6	G	A	14: 79,452,605	D247N	probably benign	Het
Kcnq2	T	A	2: 181,100,557	T394S	probably benign	Het
Mia2	A	G	12: 59,149,575		probably benign	Het
Mvp	T	C	7: 126,992,761	Q419R	probably benign	Het
Mylk	A	G	16: 34,952,782	D1250G	probably benign	Het
Necab1	A	G	4: 15,111,267	Y54H	probably damaging	Het
Nlk	T	A	11: 78,587,027	M297L	probably benign	Het
Nsl1	G	T	1: 191,063,188	M50I	probably benign	Het
Numa1	A	G	7: 102,011,050	T441A	probably damaging	Het
Ofd1	A	G	X: 166,406,006	Y755H	probably benign	Het
Olfr810	C	T	10: 129,791,131	V153I	probably benign	Het
Olfr870	G	A	9: 20,170,809	T254I	probably benign	Het
Olfr934	G	A	9: 38,982,894	S50F	probably damaging	Het
Ovgp1	A	T	3: 105,977,798	H151L	possibly damaging	Het
Pigz	G	A	16: 31,944,579	E152K	probably damaging	Het
Plxna1	A	T	6: 89,335,464	D779E	probably benign	Het
Ppil4	A	T	10: 7,810,437	E353V	probably benign	Het
Ptprq	C	T	10: 107,685,089	G741S	probably damaging	Het
Rplp0	T	C	5: 115,562,465	Y231H	probably benign	Het
Rps24	A	G	14: 24,491,762	T6A	probably damaging	Het
Rundc3b	T	C	5: 8,579,050	E117G	probably damaging	Het
Ryr2	A	C	13: 11,745,176		probably null	Het
Ryr3	A	T	2: 112,957,253	M198K	probably damaging	Het
Sdhd	T	C	9: 50,597,200	K122R	probably benign	Het
Senp2	T	C	16: 22,043,060		probably benign	Het
Setd3	C	A	12: 108,165,161	G2V	probably damaging	Het
Sfxn5	A	G	6: 85,267,945		probably benign	Het
She	T	A	3: 89,832,038	S179T	possibly damaging	Het
Slc24a2	G	A	4: 87,176,289	T331I	probably benign	Het
Slc45a3	T	C	1: 131,976,956	W6R	possibly damaging	Het
Slc9a4	T	C	1: 40,629,287	S697P	probably benign	Het
Soat1	C	T	1: 156,442,421	V143I	probably benign	Het
Sp8	T	A	12: 118,849,567	F386I	probably damaging	Het
Spata31d1b	A	G	13: 59,716,567	T510A	probably benign	Het
Srgap2	T	A	1: 131,411,850	I125F	probably damaging	Het
Stab2	T	A	10: 86,957,816	I472F	possibly damaging	Het
Taar7f	C	T	10: 24,049,648	R47C	probably benign	Het
Tbc1d19	T	A	5: 53,889,311		probably null	Het
Tbc1d21	T	A	9: 58,366,728		probably benign	Het
Tcaf1	A	G	6: 42,678,455	I529T	possibly damaging	Het
Tgfbr2	A	T	9: 116,174,967	I24N	possibly damaging	Het
Tgm1	T	C	14: 55,709,397	T385A	probably damaging	Het
Tgm2	T	C	2: 158,131,459	N244S	probably benign	Het
Thoc5	T	C	11: 4,914,517		probably benign	Het
Tnrc6a	A	G	7: 123,171,297	D222G	probably damaging	Het
Trhde	T	G	10: 114,800,603	N233T	probably benign	Het
Tstd3	T	C	4: 21,759,475	Y99C	probably damaging	Het
Ttc22	A	T	4: 106,639,040	D429V	possibly damaging	Het
Ugcg	A	G	4: 59,207,775	N38S	probably benign	Het
Ush2a	A	G	1: 188,728,203	I2554V	possibly damaging	Het
Usp16	A	G	16: 87,479,316	D513G	probably damaging	Het
Vip	T	C	10: 5,644,992		probably null	Het
Vmn1r4	A	G	6: 56,957,038	I176V	probably benign	Het
Zfp804b	T	C	5: 6,769,806	T1050A	probably damaging	Het

Other mutations in Tmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Tmc2	APN	2	130261304	missense	possibly damaging	0.94
IGL00966:Tmc2	APN	2	130264012	missense	probably benign	0.02
IGL01094:Tmc2	APN	2	130260166	splice site	probably benign
IGL01331:Tmc2	APN	2	130232356	missense	probably damaging	1.00
IGL01660:Tmc2	APN	2	130260224	nonsense	probably null
IGL01926:Tmc2	APN	2	130260240	missense	possibly damaging	0.68
IGL02150:Tmc2	APN	2	130240153	missense	probably damaging	0.98
IGL02273:Tmc2	APN	2	130229206	missense	probably damaging	0.99
IGL03137:Tmc2	APN	2	130240130	missense	probably damaging	1.00
IGL03179:Tmc2	APN	2	130229187	missense	probably damaging	1.00
FR4449:Tmc2	UTSW	2	130240196	missense	probably damaging	1.00
H8786:Tmc2	UTSW	2	130226262	missense	probably damaging	1.00
PIT4418001:Tmc2	UTSW	2	130248651	missense	probably damaging	0.96
R0364:Tmc2	UTSW	2	130202103	missense	probably benign	0.00
R1183:Tmc2	UTSW	2	130247976	missense	probably damaging	1.00
R1446:Tmc2	UTSW	2	130248730	missense	probably damaging	0.97
R1458:Tmc2	UTSW	2	130248762	missense	probably damaging	1.00
R1589:Tmc2	UTSW	2	130247960	missense	probably damaging	0.99
R1656:Tmc2	UTSW	2	130247934	missense	possibly damaging	0.93
R1686:Tmc2	UTSW	2	130256116	missense	possibly damaging	0.71
R1765:Tmc2	UTSW	2	130260225	missense	probably benign	0.34
R1873:Tmc2	UTSW	2	130248756	missense	possibly damaging	0.68
R1972:Tmc2	UTSW	2	130214664	splice site	probably benign
R2020:Tmc2	UTSW	2	130232385	missense	probably damaging	1.00
R2208:Tmc2	UTSW	2	130214563	splice site	probably null
R3968:Tmc2	UTSW	2	130202071	missense	probably benign	0.02
R4732:Tmc2	UTSW	2	130261397	splice site	probably null
R4733:Tmc2	UTSW	2	130261397	splice site	probably null
R4989:Tmc2	UTSW	2	130202041	missense	possibly damaging	0.88
R5143:Tmc2	UTSW	2	130234818	missense	probably damaging	0.98
R5411:Tmc2	UTSW	2	130240115	missense	probably damaging	1.00
R5514:Tmc2	UTSW	2	130241644	missense	possibly damaging	0.94
R5690:Tmc2	UTSW	2	130232386	missense	probably damaging	1.00
R5983:Tmc2	UTSW	2	130247976	missense	probably damaging	1.00
R6451:Tmc2	UTSW	2	130264203	missense	probably damaging	0.99
R6927:Tmc2	UTSW	2	130261380	missense	probably benign
R7132:Tmc2	UTSW	2	130232409	missense	possibly damaging	0.82
R7240:Tmc2	UTSW	2	130234804	missense	possibly damaging	0.80
R7353:Tmc2	UTSW	2	130196577	critical splice donor site	probably null
R8167:Tmc2	UTSW	2	130241568	missense	probably benign	0.04
R8554:Tmc2	UTSW	2	130264164	missense	probably benign	0.00
R9134:Tmc2	UTSW	2	130232401	missense	probably benign	0.21
R9169:Tmc2	UTSW	2	130241596	missense	probably damaging	1.00
R9209:Tmc2	UTSW	2	130261397	splice site	probably null
R9232:Tmc2	UTSW	2	130243129	missense	probably damaging	1.00
R9725:Tmc2	UTSW	2	130247961	missense	probably damaging	0.99
X0019:Tmc2	UTSW	2	130208285	missense	possibly damaging	0.59
X0052:Tmc2	UTSW	2	130201972	missense	probably benign	0.00
Z1177:Tmc2	UTSW	2	130208296	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TCCCAGATTCTCAGACTGAAGCCC -3'
(R):5'- TGTGTACTGATACGGCTCTCACAGG -3'

Sequencing Primer
(F):5'- ACTGGTTTGACCCAACTGAG -3'
(R):5'- CACAGGTTATATATTTGGAGACCCC -3'

Posted On

2014-05-23