Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4449:Tmc2'

511447

Institutional Source

Beutler Lab

Gene Symbol

Tmc2

Ensembl Gene

ENSMUSG00000060332

Gene Name

transmembrane channel-like gene family 2

Synonyms

Accession Numbers

Essential gene?

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

Stock #

FR4449 ()

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130037114-130106365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 130082116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 433 (V433G)

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: V433G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: V433G

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: V433G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: V433G

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: 99.7%
3x: 99.5%
10x: 98.3%
20x: 95.8%

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	GGTATTGCATTTCTTATCT	G	5: 4,031,214 (GRCm39)		probably benign	Homo
Amfr	C	G	8: 94,731,787 (GRCm39)	G30R	probably damaging	Homo
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	AGC	AGCCAATAACGC	18: 34,415,058 (GRCm39)		probably benign	Het
Apc	AATAAAGC	AATAAAGCCGATAAAGC	18: 34,415,053 (GRCm39)		probably benign	Het
Apol6	TTT	TTTGATT	15: 76,935,643 (GRCm39)		probably null	Homo
Arid1b	CGG	CGGTGG	17: 5,045,864 (GRCm39)		probably benign	Het
B430218F22Rik	CGGCG	CGGCGATGGCG	13: 118,523,387 (GRCm39)		probably benign	Homo
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT	7: 80,162,656 (GRCm39)		probably benign	Het
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,335,310 (GRCm39)		probably benign	Het
Btnl10	AAG	AAGGAG	11: 58,814,754 (GRCm39)		probably benign	Homo
Cacna1a	ACC	ACCCCC	8: 85,365,343 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 85,365,352 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 85,365,349 (GRCm39)		probably benign	Het
Calhm1	TGGC	TGGCTGTGGCTGCGGC	19: 47,129,713 (GRCm39)		probably benign	Het
Ccdc15	C	CTTTAT	9: 37,226,454 (GRCm39)		probably null	Het
Ccdc85c	CCG	CCGACG	12: 108,240,875 (GRCm39)		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,168,766 (GRCm39)		probably benign	Het
Cdhr2	AGTC	AGTCGTC	13: 54,873,737 (GRCm39)		probably benign	Homo
Cdk15	A	ATCTAAAAGG	1: 59,296,982 (GRCm39)		probably benign	Homo
Cdx1	GCTG	GCTGCTCCTG	18: 61,152,953 (GRCm39)		probably benign	Het
Cfap46	T	C	7: 139,218,711 (GRCm39)		probably benign	Homo
Cgref1	TTC	TTCGTC	5: 31,091,120 (GRCm39)		probably benign	Het
Cgref1	CTT	CTTATT	5: 31,091,122 (GRCm39)		probably null	Homo
Cluh	G	GACTGAA	11: 74,560,358 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,395 (GRCm39)		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,080,419 (GRCm39)		probably benign	Het
Cpne1	CCTACT	CCT	2: 155,915,422 (GRCm39)		probably benign	Homo
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cttnbp2	CTGCTG	CTGCTGTTGCTG	6: 18,367,461 (GRCm39)		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,811,782 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,739 (GRCm39)		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,465,749 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,727 (GRCm39)		probably benign	Het
Dhx8	CG	CGAGACAG	11: 101,629,020 (GRCm39)		probably benign	Homo
Dhx8	CG	CGAGACAG	11: 101,629,032 (GRCm39)		probably benign	Het
Dhx8	G	GAGACCC	11: 101,629,033 (GRCm39)		probably benign	Het
Dhx8	AGACCG	AGACCGTGACCG	11: 101,629,010 (GRCm39)		probably benign	Homo
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGAC	11: 101,629,016 (GRCm39)		probably benign	Het
Dspp	CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	5: 104,326,254 (GRCm39)		probably benign	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
Erich3	GA	GAGAA	3: 154,469,150 (GRCm39)		probably benign	Homo
Ermn	CTT	CTTGTT	2: 57,938,086 (GRCm39)		probably benign	Het
Fgd6	GGAT	G	10: 93,880,182 (GRCm39)		probably benign	Homo
G530012D18Rik	GAGAGAGAGAGAGAGAGACAGAGA	GAGAGA	1: 85,504,901 (GRCm39)		probably benign	Homo
Gar1	GCCGCCTCCGCC	GCCGCC	3: 129,624,353 (GRCm39)		probably benign	Homo
Gatad2b	AGAC	A	3: 90,249,224 (GRCm39)		probably benign	Het
Gigyf2	C	T	1: 87,356,307 (GRCm39)		probably benign	Het
Gm16519	A	AGAT	17: 71,236,333 (GRCm39)		probably benign	Homo
Gm4340	AGC	AGCGGC	10: 104,031,946 (GRCm39)		probably benign	Het
Gm4340	GCA	GCATCA	10: 104,031,947 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,943 (GRCm39)		probably benign	Het
Gpatch11	AGGAAG	AGGAAGCGGAAG	17: 79,149,597 (GRCm39)		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 79,149,605 (GRCm39)		probably benign	Het
Gpatch11	GG	GGCAGACG	17: 79,149,610 (GRCm39)		probably benign	Het
Hoxa10	T	A	6: 52,211,166 (GRCm39)	Q250L	possibly damaging	Homo
Igkv12-89	GCA	GCAGCAGCAACA	6: 68,812,264 (GRCm39)		probably benign	Homo
Igsf10	G	A	3: 59,226,531 (GRCm39)	R2381C	probably damaging	Homo
Il17rd	GGC	GGCAGC	14: 26,804,635 (GRCm39)		probably benign	Het
Ints5	G	A	19: 8,874,594 (GRCm39)	R851Q	probably benign	Het
Isg20l2	AGA	AGAGGA	3: 87,839,020 (GRCm39)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Kifc5b	A	C	17: 27,143,191 (GRCm39)	E321A	probably benign	Het
Klra2	TCCACAG	TCCACAGAAACCCACAG	6: 131,198,809 (GRCm39)		probably null	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,794 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,786 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,285,791 (GRCm39)		probably benign	Het
Krt10	ACC	ACCACCTCC	11: 99,280,093 (GRCm39)		probably benign	Het
Las1l	GA	GAGAA	X: 94,984,438 (GRCm39)		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCGC	3: 92,925,459 (GRCm39)		probably benign	Het
Leo1	GTACCATGCA	G	9: 75,357,855 (GRCm39)		probably benign	Het
Lkaaear1	CA	CATCTCCAGCTCTA	2: 181,339,364 (GRCm39)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,532,752 (GRCm39)		probably benign	Homo
Med12l	CAG	CAGTAG	3: 59,183,384 (GRCm39)		probably null	Het
Mgat4e	GTCGTAGTCATCGT	GTCGT	1: 134,468,735 (GRCm39)		probably benign	Homo
Mn1	GCA	GCAACA	5: 111,567,576 (GRCm39)		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCTGGCAGTGAG	19: 42,064,548 (GRCm39)		probably benign	Het
Nat8f2	T	A	6: 85,844,668 (GRCm39)	L231F	possibly damaging	Homo
Noc2l	C	CTGA	4: 156,324,558 (GRCm39)		probably benign	Het
Nrg3	T	TAGACAC	14: 38,119,228 (GRCm39)		probably benign	Het
Or8b41	A	G	9: 38,054,484 (GRCm39)	I13V	probably benign	Homo
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pih1d2	CTCTTGCGAGGATC	CTC	9: 50,532,927 (GRCm39)		probably null	Homo
Pik3ap1	G	GGAA	19: 41,270,385 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Ptms	TTC	TTCGTC	6: 124,891,422 (GRCm39)		probably benign	Het
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Qrich2	AACT	A	11: 116,347,025 (GRCm39)		probably benign	Homo
Raet1d	A	ATATCCTCTCTGG	10: 22,246,814 (GRCm39)		probably benign	Het
Rbm33	AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA	AGCAGCAGCAGCA	5: 28,599,166 (GRCm39)		probably benign	Homo
Rrbp1	TGCTTCTCAAAGGTGGCTGCCTTGGCTTC	TGCTTC	2: 143,809,376 (GRCm39)		probably null	Het
Sbp	CAACAAAGATGCTGA	CAACAAAGATGCTGAGAACAAAGATGCTGA	17: 24,164,338 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,498 (GRCm39)		probably benign	Het
Sfswap	CCCACTCAG	CCCACTCAGTCCACTCAG	5: 129,646,812 (GRCm39)		probably benign	Het
Sfswap	CCACTCAGC	CCACTCAGCTCACTCAGC	5: 129,646,813 (GRCm39)		probably benign	Het
Sh3pxd2b	T	TGTCTGC	11: 32,373,065 (GRCm39)		probably benign	Homo
Six3	CGG	CGGGGG	17: 85,928,790 (GRCm39)		probably benign	Het
Slc12a1	C	CTTTGGCCACAACACG	2: 124,996,136 (GRCm39)		probably benign	Homo
Slc26a8	CTCTCTG	C	17: 28,857,290 (GRCm39)		probably benign	Het
Spata31h1	TTCAGT	TT	10: 82,121,303 (GRCm39)		probably null	Homo
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Sry	TGCTG	TGCTGCTG	Y: 2,662,832 (GRCm39)		probably benign	Homo
Sry	ACTG	ACTGCTG	Y: 2,662,818 (GRCm39)		probably benign	Het
Ston1	G	A	17: 88,942,953 (GRCm39)	V120M	probably benign	Homo
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,070 (GRCm39)		probably benign	Het
Tbl3	TG	TGTGG	17: 24,921,518 (GRCm39)		probably benign	Homo
Tctn3	AG	AGAAGCCG	19: 40,595,646 (GRCm39)		probably benign	Het
Tesk1	CCC	CCCACC	4: 43,447,002 (GRCm39)		probably benign	Homo
Tmprss13	G	A	9: 45,239,856 (GRCm39)	A55T	unknown	Het
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,906 (GRCm39)		probably null	Homo
Tob1	CAG	CAGAAG	11: 94,105,294 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,301 (GRCm39)		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,562,756 (GRCm39)		probably benign	Homo
Triobp	GTC	GTCTTC	15: 78,877,589 (GRCm39)		probably benign	Het
Ubtf	CCT	CCTACT	11: 102,197,774 (GRCm39)		probably null	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Xpnpep3	G	C	15: 81,311,623 (GRCm39)	D110H	possibly damaging	Het
Zc3h13	CGAGATGTG	CGAGATGTGTGAGATGTG	14: 75,561,041 (GRCm39)		probably null	Homo
Zfhx3	GCAACAGCA	GCAACAGCAACAACAGCA	8: 109,682,726 (GRCm39)		probably benign	Homo
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp335	CTC	CTCATC	2: 164,749,397 (GRCm39)		probably benign	Het
Zfp335	CTCT	CTCTTCT	2: 164,749,403 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCTCCACC	17: 24,899,750 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,759 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCACC	2: 174,487,264 (GRCm39)		probably benign	Het
Zfp831	CTC	CTCGTC	2: 174,487,275 (GRCm39)		probably benign	Het
Zfp978	G	T	4: 147,475,401 (GRCm39)	S316I	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
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
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'- CCTGGCTTGGTGCTATTCAC -3'
(R):5'- ACAAGGCCTGTAATTCAGACTTTC -3'

Sequencing Primer
(F):5'- ACCTCTCCTTTTCACATGCTAAGGAG -3'
(R):5'- GACTTTCTGAGACTCTACTGCAGAAC -3'

Posted On

2018-04-05