Mutagenetix > Incidental Mutation

Incidental Mutation 'R1765:Tmc2'

194257

Institutional Source

Beutler Lab

Gene Symbol

Tmc2

Ensembl Gene

ENSMUSG00000060332

Gene Name

transmembrane channel-like gene family 2

Synonyms

MMRRC Submission

039797-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R1765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130037114-130106365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130102145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 770 (Q770R)

Ref Sequence

ENSEMBL: ENSMUSP00000125843 (fasta)

Gene Model

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

AlphaFold

Q8R4P4

Predicted Effect

probably benign
Transcript: ENSMUST00000077988
AA Change: Q770R

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: Q770R

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 benign
Transcript: ENSMUST00000166774
AA Change: Q770R

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: Q770R

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

0.0935

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	G	T	15: 59,887,194 (GRCm39)	C415*	probably null	Het
Adamtsl2	A	C	2: 26,992,842 (GRCm39)	I652L	probably benign	Het
Adgrl4	T	C	3: 151,248,872 (GRCm39)	I720T	probably damaging	Het
Agrn	A	T	4: 156,261,284 (GRCm39)	C604*	probably null	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
B3galt2	C	A	1: 143,522,207 (GRCm39)	N114K	probably benign	Het
Bud23	A	T	5: 135,084,897 (GRCm39)	M59K	probably benign	Het
C3	C	T	17: 57,531,401 (GRCm39)		probably null	Het
C9orf72	A	C	4: 35,197,098 (GRCm39)	H322Q	probably damaging	Het
Cc2d2a	A	T	5: 43,871,873 (GRCm39)	D903V	probably damaging	Het
Ccdc9b	G	A	2: 118,591,128 (GRCm39)	A135V	probably benign	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdan1	A	C	2: 120,551,230 (GRCm39)	L1097V	probably damaging	Het
Cdc26	T	A	4: 62,313,155 (GRCm39)	N62I	probably benign	Het
Cdc27	G	T	11: 104,425,607 (GRCm39)	Q70K	probably damaging	Het
Cenpq	A	T	17: 41,235,178 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,239,200 (GRCm39)	S1858G	probably damaging	Het
Clasp1	T	C	1: 118,433,261 (GRCm39)	S247P	probably damaging	Het
Cyp2w1	C	T	5: 139,339,623 (GRCm39)	T71I	probably damaging	Het
Dcaf1	T	C	9: 106,741,793 (GRCm39)	F1336S	probably damaging	Het
Dennd6b	G	A	15: 89,074,506 (GRCm39)	Q104*	probably null	Het
Dglucy	T	A	12: 100,816,361 (GRCm39)		probably null	Het
Dnajc9	A	G	14: 20,438,158 (GRCm39)	V148A	possibly damaging	Het
Dnmbp	T	A	19: 43,890,579 (GRCm39)	D396V	possibly damaging	Het
Dock10	T	A	1: 80,583,540 (GRCm39)	I221F	probably damaging	Het
Dscam	T	C	16: 96,486,579 (GRCm39)	N1032S	probably benign	Het
Dsg4	A	C	18: 20,589,888 (GRCm39)	Y346S	probably benign	Het
Dync1i2	A	G	2: 71,079,759 (GRCm39)	H417R	probably benign	Het
Dysf	G	A	6: 84,167,884 (GRCm39)		probably null	Het
Elovl1	A	G	4: 118,287,707 (GRCm39)	M1V	probably null	Het
Eva1c	A	G	16: 90,701,135 (GRCm39)	S257G	probably benign	Het
Eya2	A	T	2: 165,566,723 (GRCm39)	D258V	probably damaging	Het
Fam193a	A	G	5: 34,593,841 (GRCm39)	T113A	probably damaging	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fstl5	G	T	3: 76,500,783 (GRCm39)	R404L	possibly damaging	Het
Glud1	T	C	14: 34,047,541 (GRCm39)		probably benign	Het
Gm10770	A	C	2: 150,021,258 (GRCm39)	H86Q	probably damaging	Het
Gzme	C	T	14: 56,355,871 (GRCm39)	G147D	probably damaging	Het
Herc3	T	C	6: 58,865,645 (GRCm39)	V746A	probably damaging	Het
Hmga1	A	G	17: 27,778,592 (GRCm39)	E17G	probably damaging	Het
Kdelr2	A	T	5: 143,406,567 (GRCm39)	K206*	probably null	Het
Kng2	A	G	16: 22,806,993 (GRCm39)		probably null	Het
Lrrc41	G	A	4: 115,946,248 (GRCm39)	R321H	possibly damaging	Het
Mapkapk2	A	T	1: 130,986,498 (GRCm39)	M1K	probably null	Het
Me2	A	G	18: 73,924,929 (GRCm39)	F263L	probably damaging	Het
Mkks	A	G	2: 136,722,287 (GRCm39)	L290P	probably damaging	Het
Mmp12	T	A	9: 7,354,772 (GRCm39)	I255N	probably damaging	Het
Mogs	A	G	6: 83,093,784 (GRCm39)	D251G	probably benign	Het
Morf4l1	T	A	9: 89,984,401 (GRCm39)	Y65F	possibly damaging	Het
Neb	T	C	2: 52,094,676 (GRCm39)	D5169G	probably damaging	Het
Nin	A	G	12: 70,089,665 (GRCm39)	L1250P	probably damaging	Het
Nomo1	G	T	7: 45,715,717 (GRCm39)	G721V	possibly damaging	Het
Notch2	T	G	3: 98,029,242 (GRCm39)	C1002G	probably damaging	Het
Npat	T	C	9: 53,481,522 (GRCm39)	Y1077H	probably benign	Het
Or1e1c	T	A	11: 73,266,170 (GRCm39)	N198K	probably damaging	Het
Or4g17	G	A	2: 111,209,491 (GRCm39)	V49I	probably benign	Het
Or4p21	A	T	2: 88,276,367 (GRCm39)	F305Y	probably damaging	Het
Or5h25	A	G	16: 58,930,118 (GRCm39)	L285P	probably damaging	Het
Or8c16	T	C	9: 38,130,548 (GRCm39)	I143T	probably benign	Het
Otop2	A	T	11: 115,215,504 (GRCm39)	I142F	probably benign	Het
Pacsin3	A	G	2: 91,093,460 (GRCm39)	E279G	possibly damaging	Het
Pafah2	A	G	4: 134,140,758 (GRCm39)	T243A	probably benign	Het
Pcdhgc5	A	G	18: 37,954,913 (GRCm39)	H729R	probably benign	Het
Plcd1	T	C	9: 118,900,874 (GRCm39)	D756G	probably damaging	Het
Prune2	A	G	19: 17,102,962 (GRCm39)	E2707G	probably damaging	Het
Rit2	C	T	18: 31,449,951 (GRCm39)	G16S	probably damaging	Het
Sec24c	A	G	14: 20,738,922 (GRCm39)		probably benign	Het
Skint5	G	T	4: 113,434,858 (GRCm39)	T1037K	unknown	Het
Slc28a2	T	A	2: 122,290,876 (GRCm39)		probably null	Het
Slc41a2	G	A	10: 83,137,130 (GRCm39)	A259V	probably damaging	Het
Slc6a17	T	A	3: 107,380,895 (GRCm39)	I537F	possibly damaging	Het
Slco1a7	T	C	6: 141,700,084 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,707,196 (GRCm39)		probably benign	Het
Smg1	T	C	7: 117,738,938 (GRCm39)	I3489V	probably benign	Het
Sytl3	T	C	17: 6,967,082 (GRCm39)	L142P	probably damaging	Het
Tektl1	A	T	10: 78,584,502 (GRCm39)	M340K	probably benign	Het
Tfr2	C	T	5: 137,581,707 (GRCm39)	T598I	probably damaging	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trim68	A	T	7: 102,329,597 (GRCm39)	M177K	possibly damaging	Het
Trmt11	T	C	10: 30,435,184 (GRCm39)	D325G	probably benign	Het
Ube3a	C	T	7: 58,935,862 (GRCm39)	T582I	probably damaging	Het
Usp13	G	A	3: 32,969,919 (GRCm39)	E682K	probably benign	Het
Usp9y	A	G	Y: 1,384,454 (GRCm39)	V688A	possibly damaging	Het
Uts2r	A	G	11: 121,052,095 (GRCm39)	T320A	possibly damaging	Het
Vmn1r34	A	T	6: 66,614,480 (GRCm39)	M86K	probably damaging	Het
Vsig10	A	G	5: 117,456,880 (GRCm39)		probably benign	Het
Zbtb41	T	A	1: 139,368,132 (GRCm39)	C607S	probably benign	Het

Other mutations in Tmc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Tmc2	APN	2	130,103,224 (GRCm39)	missense	possibly damaging	0.94
IGL00966:Tmc2	APN	2	130,105,932 (GRCm39)	missense	probably benign	0.02
IGL01094:Tmc2	APN	2	130,102,086 (GRCm39)	splice site	probably benign
IGL01331:Tmc2	APN	2	130,074,276 (GRCm39)	missense	probably damaging	1.00
IGL01660:Tmc2	APN	2	130,102,144 (GRCm39)	nonsense	probably null
IGL01926:Tmc2	APN	2	130,102,160 (GRCm39)	missense	possibly damaging	0.68
IGL02150:Tmc2	APN	2	130,082,073 (GRCm39)	missense	probably damaging	0.98
IGL02273:Tmc2	APN	2	130,071,126 (GRCm39)	missense	probably damaging	0.99
IGL03137:Tmc2	APN	2	130,082,050 (GRCm39)	missense	probably damaging	1.00
IGL03179:Tmc2	APN	2	130,071,107 (GRCm39)	missense	probably damaging	1.00
FR4449:Tmc2	UTSW	2	130,082,116 (GRCm39)	missense	probably damaging	1.00
H8786:Tmc2	UTSW	2	130,068,182 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Tmc2	UTSW	2	130,090,571 (GRCm39)	missense	probably damaging	0.96
R0364:Tmc2	UTSW	2	130,044,023 (GRCm39)	missense	probably benign	0.00
R1183:Tmc2	UTSW	2	130,089,896 (GRCm39)	missense	probably damaging	1.00
R1446:Tmc2	UTSW	2	130,090,650 (GRCm39)	missense	probably damaging	0.97
R1458:Tmc2	UTSW	2	130,090,682 (GRCm39)	missense	probably damaging	1.00
R1589:Tmc2	UTSW	2	130,089,880 (GRCm39)	missense	probably damaging	0.99
R1656:Tmc2	UTSW	2	130,089,854 (GRCm39)	missense	possibly damaging	0.93
R1686:Tmc2	UTSW	2	130,098,036 (GRCm39)	missense	possibly damaging	0.71
R1776:Tmc2	UTSW	2	130,076,789 (GRCm39)	missense	probably damaging	1.00
R1873:Tmc2	UTSW	2	130,090,676 (GRCm39)	missense	possibly damaging	0.68
R1972:Tmc2	UTSW	2	130,056,584 (GRCm39)	splice site	probably benign
R2020:Tmc2	UTSW	2	130,074,305 (GRCm39)	missense	probably damaging	1.00
R2208:Tmc2	UTSW	2	130,056,483 (GRCm39)	splice site	probably null
R3968:Tmc2	UTSW	2	130,043,991 (GRCm39)	missense	probably benign	0.02
R4732:Tmc2	UTSW	2	130,103,317 (GRCm39)	splice site	probably null
R4733:Tmc2	UTSW	2	130,103,317 (GRCm39)	splice site	probably null
R4989:Tmc2	UTSW	2	130,043,961 (GRCm39)	missense	possibly damaging	0.88
R5143:Tmc2	UTSW	2	130,076,738 (GRCm39)	missense	probably damaging	0.98
R5411:Tmc2	UTSW	2	130,082,035 (GRCm39)	missense	probably damaging	1.00
R5514:Tmc2	UTSW	2	130,083,564 (GRCm39)	missense	possibly damaging	0.94
R5690:Tmc2	UTSW	2	130,074,306 (GRCm39)	missense	probably damaging	1.00
R5983:Tmc2	UTSW	2	130,089,896 (GRCm39)	missense	probably damaging	1.00
R6451:Tmc2	UTSW	2	130,106,123 (GRCm39)	missense	probably damaging	0.99
R6927:Tmc2	UTSW	2	130,103,300 (GRCm39)	missense	probably benign
R7132:Tmc2	UTSW	2	130,074,329 (GRCm39)	missense	possibly damaging	0.82
R7240:Tmc2	UTSW	2	130,076,724 (GRCm39)	missense	possibly damaging	0.80
R7353:Tmc2	UTSW	2	130,038,497 (GRCm39)	critical splice donor site	probably null
R8167:Tmc2	UTSW	2	130,083,488 (GRCm39)	missense	probably benign	0.04
R8554:Tmc2	UTSW	2	130,106,084 (GRCm39)	missense	probably benign	0.00
R9134:Tmc2	UTSW	2	130,074,321 (GRCm39)	missense	probably benign	0.21
R9169:Tmc2	UTSW	2	130,083,516 (GRCm39)	missense	probably damaging	1.00
R9209:Tmc2	UTSW	2	130,103,317 (GRCm39)	splice site	probably null
R9232:Tmc2	UTSW	2	130,085,049 (GRCm39)	missense	probably damaging	1.00
R9725:Tmc2	UTSW	2	130,089,881 (GRCm39)	missense	probably damaging	0.99
X0019:Tmc2	UTSW	2	130,050,205 (GRCm39)	missense	possibly damaging	0.59
X0052:Tmc2	UTSW	2	130,043,892 (GRCm39)	missense	probably benign	0.00
Z1177:Tmc2	UTSW	2	130,050,216 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- CAGAACTTGGGATGGTAGAACCAGC -3'
(R):5'- TTGTGCCCAAATGCGTGAGTGC -3'

Sequencing Primer
(F):5'- GATGGTAGAACCAGCTCTACTCTG -3'
(R):5'- GAGTGCTAGTGACTACTCTAAGCC -3'

Posted On

2014-05-23