Mutagenetix > Incidental Mutation

Incidental Mutation 'R5411:Tmc2'

427450

Institutional Source

Beutler Lab

Gene Symbol

Tmc2

Ensembl Gene

ENSMUSG00000060332

Gene Name

transmembrane channel-like gene family 2

Synonyms

MMRRC Submission

042980-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R5411 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130195194-130264445 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130240115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 406 (H406R)

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: H406R

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

SMART Domains

Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: H406R

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: H406R

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

SMART Domains

Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: H406R

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	C	A	9: 53,582,646	V392F	probably damaging	Het
Ache	C	T	5: 137,290,064	P11S	possibly damaging	Het
Ache	T	A	5: 137,290,430		probably null	Het
Acoxl	A	T	2: 127,854,901	H23L	probably benign	Het
Adamtsl1	G	A	4: 86,388,413		probably null	Het
Adar	T	A	3: 89,739,212	F45I	probably benign	Het
Adgrf4	A	C	17: 42,667,213	L413R	probably damaging	Het
Atp6v1g3	A	T	1: 138,287,889	I96F	probably benign	Het
Brsk2	T	C	7: 142,000,857	M653T	probably benign	Het
Cacna1s	G	T	1: 136,105,811	V1275L	probably benign	Het
Ces3b	T	C	8: 105,088,632	V5A	possibly damaging	Het
Chpt1	A	T	10: 88,477,107	I281N	probably damaging	Het
Col10a1	A	G	10: 34,394,557	E175G	probably damaging	Het
Col27a1	T	C	4: 63,224,665	S197P	probably damaging	Het
Csmd1	T	A	8: 15,910,471	R3315W	probably damaging	Het
Ctnna2	T	C	6: 77,114,931	E443G	probably damaging	Het
Dhx9	G	T	1: 153,481,223	S93R	probably benign	Het
Efcab8	A	G	2: 153,783,756	H112R	probably damaging	Het
Eif3d	A	T	15: 77,959,687	N486K	probably damaging	Het
Esp8	C	T	17: 40,530,018	R57*	probably null	Het
Eya3	A	T	4: 132,689,779	I130F	probably damaging	Het
Fat2	G	T	11: 55,252,226	L4266I	probably benign	Het
Fras1	T	A	5: 96,645,160	D983E	probably benign	Het
Gcc2	T	C	10: 58,270,969	S640P	probably damaging	Het
Gm13119	T	A	4: 144,361,637	M1K	probably null	Het
Gys2	C	T	6: 142,448,421	G464R	probably damaging	Het
Heatr5a	G	A	12: 51,888,243	T1659I	probably damaging	Het
Il17ra	A	G	6: 120,481,442	D518G	probably damaging	Het
Kcnk13	A	G	12: 100,061,251	Y195C	probably damaging	Het
Kmt2a	T	A	9: 44,848,485	H722L	probably damaging	Het
Luzp1	C	A	4: 136,543,342	Q959K	possibly damaging	Het
Mep1b	T	A	18: 21,086,249	H153Q	probably damaging	Het
Mfsd13b	A	T	7: 121,000,123	I381F	probably benign	Het
Mvk	A	G	5: 114,458,973	T334A	probably benign	Het
Naa30	T	C	14: 49,187,551	V320A	probably damaging	Het
Naip5	C	T	13: 100,245,746	G152S	possibly damaging	Het
Neb	A	C	2: 52,295,372	S949R	probably damaging	Het
Nfya	A	T	17: 48,392,018	I214N	possibly damaging	Het
Nsf	G	T	11: 103,882,811	N292K	probably damaging	Het
Nup133	T	C	8: 123,927,206	T505A	probably benign	Het
Olfr1178	A	G	2: 88,391,261	T5A	probably benign	Het
Olfr1231	A	C	2: 89,303,576	S5R	probably benign	Het
Olfr1413	A	T	1: 92,573,824	T218S	probably benign	Het
Olfr192	T	A	16: 59,098,704	H96L	unknown	Het
P4ha3	A	T	7: 100,293,815	R136W	probably damaging	Het
Parp12	A	G	6: 39,090,208	V550A	probably damaging	Het
Phf11a	T	C	14: 59,294,938	D16G	probably benign	Het
Rab3gap2	A	G	1: 185,277,145		probably null	Het
Sco1	A	G	11: 67,063,958	D263G	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Homo
Sfpq	T	A	4: 127,021,723	S103T	unknown	Het
Shisa7	G	A	7: 4,829,976	R263C	probably damaging	Het
Ssc4d	T	A	5: 135,963,400	D144V	probably benign	Het
Stxbp5l	G	A	16: 37,129,851	P1044L	probably damaging	Het
Tgm6	G	A	2: 130,145,196	R528Q	probably benign	Het
Tlr3	A	T	8: 45,396,955	H892Q	probably benign	Het
Tmtc1	A	T	6: 148,443,899		probably null	Het
Ttc19	A	G	11: 62,284,151	I139M	probably benign	Het
Utrn	G	A	10: 12,649,185	R2185C	probably benign	Het
Wdfy4	T	C	14: 32,960,002	N3004S	probably damaging	Het
Wdr3	C	A	3: 100,142,984	G746W	probably damaging	Het
Zfp335	T	A	2: 164,902,245	Q500L	probably damaging	Het
Zfp804b	A	T	5: 6,770,071	D961E	probably benign	Het
Zkscan16	CTTCAGCTTTCA	CTTCA	4: 58,956,745		probably null	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
R1776:Tmc2	UTSW	2	130234869	missense	probably damaging	1.00
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
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'- ACCATGTCTAGCAAGAGTAAATCTC -3'
(R):5'- TAGCATCACTGGCGACATCC -3'

Sequencing Primer
(F):5'- TCTAGCAAGAGTAAATCTCAGTTTTC -3'
(R):5'- ACTGGCGACATCCGTCTTAC -3'

Posted On

2016-09-01