Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Tmc2'

177693

Institutional Source

Beutler Lab

Gene Symbol

Tmc2

Ensembl Gene

ENSMUSG00000060332

Gene Name

transmembrane channel-like gene family 2

Synonyms

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130037114-130106365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130089880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 622 (I622F)

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: I622F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: I622F

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: I622F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: I622F

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

0.1315

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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
1700008P02Rik	A	G	3: 6,685,501 (GRCm39)		probably benign	Het
Aadacl2	C	T	3: 59,917,997 (GRCm39)	T82I	probably benign	Het
Acadl	T	C	1: 66,892,382 (GRCm39)	N147S	probably benign	Het
Actr3	A	T	1: 125,336,300 (GRCm39)	M79K	probably damaging	Het
Agbl3	A	G	6: 34,834,452 (GRCm39)	S874G	possibly damaging	Het
Aoah	A	T	13: 21,187,118 (GRCm39)	T472S	probably damaging	Het
Asb16	A	T	11: 102,159,821 (GRCm39)	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575 (GRCm39)	D172G	probably benign	Het
Bax	T	C	7: 45,114,671 (GRCm39)	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,118 (GRCm39)	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,789,325 (GRCm39)		probably benign	Het
Cand1	A	G	10: 119,049,471 (GRCm39)	L425P	probably damaging	Het
Caskin1	G	A	17: 24,724,452 (GRCm39)		probably null	Het
Cd248	C	T	19: 5,119,960 (GRCm39)	P603S	probably benign	Het
Cep95	G	T	11: 106,690,930 (GRCm39)	R143L	probably benign	Het
Clptm1l	G	T	13: 73,762,792 (GRCm39)		probably null	Het
Cntnap5a	T	C	1: 115,987,930 (GRCm39)	F154L	possibly damaging	Het
Cyld	A	T	8: 89,436,618 (GRCm39)	I303F	possibly damaging	Het
Dock2	A	G	11: 34,597,288 (GRCm39)	S370P	probably damaging	Het
Enah	G	T	1: 181,749,858 (GRCm39)	T327K	probably damaging	Het
Farp2	A	T	1: 93,507,582 (GRCm39)	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,683,612 (GRCm39)	T301M	probably damaging	Het
Foxc2	A	T	8: 121,843,915 (GRCm39)	T188S	probably benign	Het
Fzd2	A	G	11: 102,497,154 (GRCm39)	T533A	probably benign	Het
Glb1l2	G	T	9: 26,680,334 (GRCm39)	S248*	probably null	Het
Glul	A	T	1: 153,781,284 (GRCm39)		probably benign	Het
Gm28042	A	G	2: 119,871,887 (GRCm39)	T946A	probably benign	Het
Golga3	T	A	5: 110,329,649 (GRCm39)	D2E	probably damaging	Het
Grm1	A	T	10: 10,595,711 (GRCm39)	F639Y	probably benign	Het
Gzmn	A	G	14: 56,403,368 (GRCm39)	L247P	probably benign	Het
Hgf	T	G	5: 16,818,783 (GRCm39)	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,808,696 (GRCm39)	D719E	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itga9	T	C	9: 118,436,185 (GRCm39)		probably null	Het
Itgb1	T	A	8: 129,431,939 (GRCm39)	C16S	probably damaging	Het
Itgb1	G	T	8: 129,431,940 (GRCm39)	C16F	possibly damaging	Het
Kat14	A	G	2: 144,236,020 (GRCm39)	I251V	probably benign	Het
Kdsr	A	T	1: 106,662,271 (GRCm39)		probably null	Het
Kif12	T	A	4: 63,084,737 (GRCm39)	E527V	probably benign	Het
Larp1b	T	C	3: 40,987,909 (GRCm39)	S44P	probably damaging	Het
Lonp2	T	C	8: 87,399,700 (GRCm39)		probably benign	Het
Lrp1	C	T	10: 127,441,475 (GRCm39)	S216N	probably benign	Het
Lrrc19	T	C	4: 94,529,187 (GRCm39)	S32G	probably benign	Het
Mdm2	G	A	10: 117,526,434 (GRCm39)	T335M	probably benign	Het
Mettl25	A	G	10: 105,615,493 (GRCm39)	Y504H	probably damaging	Het
Mill1	T	C	7: 17,979,572 (GRCm39)	I13T	probably benign	Het
Mmachc	T	A	4: 116,560,721 (GRCm39)	Q258L	probably benign	Het
Mpdz	T	A	4: 81,339,413 (GRCm39)	I5L	probably benign	Het
Mrps2	C	T	2: 28,359,500 (GRCm39)	A119V	probably benign	Het
Mtcl2	A	T	2: 156,869,557 (GRCm39)	M1026K	probably benign	Het
Mtmr11	A	G	3: 96,075,429 (GRCm39)	T370A	probably benign	Het
Nmi	T	C	2: 51,848,989 (GRCm39)	I34V	possibly damaging	Het
Obscn	A	T	11: 58,926,901 (GRCm39)	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,047,822 (GRCm39)	I24T	probably benign	Het
Omp	G	T	7: 97,794,566 (GRCm39)	D20E	probably benign	Het
Or2ag19	A	G	7: 106,444,403 (GRCm39)	Y195C	possibly damaging	Het
Or52e8b	A	G	7: 104,673,767 (GRCm39)	V140A	probably benign	Het
Or5b120	C	T	19: 13,480,121 (GRCm39)	T138M	probably benign	Het
Or6c69	A	G	10: 129,747,550 (GRCm39)	V199A	probably benign	Het
Otog	A	G	7: 45,933,332 (GRCm39)	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,607,462 (GRCm39)	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,299,808 (GRCm39)	I481V	probably benign	Het
Rbp3	A	T	14: 33,677,749 (GRCm39)	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,781,525 (GRCm39)	D125G	probably benign	Het
Scn11a	A	G	9: 119,598,873 (GRCm39)	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,911,830 (GRCm39)	G264D	probably benign	Het
Slc4a10	T	C	2: 62,087,806 (GRCm39)	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,791,173 (GRCm39)	V8I	probably benign	Het
Spen	T	C	4: 141,215,335 (GRCm39)	D499G	unknown	Het
Stk32c	A	G	7: 138,698,931 (GRCm39)		probably null	Het
Tars1	A	G	15: 11,388,261 (GRCm39)	V485A	probably benign	Het
Tcerg1l	A	G	7: 137,963,496 (GRCm39)	L258P	probably damaging	Het
Tmem183a	A	T	1: 134,282,444 (GRCm39)	N220K	probably damaging	Het
Tnni3	T	C	7: 4,523,525 (GRCm39)	D146G	probably damaging	Het
Trappc11	G	T	8: 47,954,715 (GRCm39)	D908E	probably damaging	Het
Trappc8	A	G	18: 20,996,608 (GRCm39)	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,612,254 (GRCm39)	V1176I	probably benign	Het
Ube2b	A	G	11: 51,888,699 (GRCm39)	V24A	probably benign	Het
Usp30	T	C	5: 114,251,022 (GRCm39)	C233R	probably damaging	Het
Vmn1r87	T	A	7: 12,865,703 (GRCm39)	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,783,479 (GRCm39)		probably benign	Het
Vmn2r81	C	A	10: 79,128,858 (GRCm39)	T583N	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wdr1	C	A	5: 38,687,315 (GRCm39)	V239L	probably benign	Het
Wdr17	C	T	8: 55,156,942 (GRCm39)		probably benign	Het
Zfhx4	A	C	3: 5,306,789 (GRCm39)	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,160,184 (GRCm39)		probably null	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
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
R1765:Tmc2	UTSW	2	130,102,145 (GRCm39)	missense	probably benign	0.34
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'- CCAAGGCAGGCATTTTGGGTGAG -3'
(R):5'- GCAGATCACATGGTCTCTGGCCTC -3'

Sequencing Primer
(F):5'- AGTTGTCTTGACTTGACAGGCTC -3'
(R):5'- ccttccttccctctcactttc -3'

Posted On

2014-04-24