Incidental Mutation 'R1972:Tmc2'
ID 221031
Institutional Source Beutler Lab
Gene Symbol Tmc2
Ensembl Gene ENSMUSG00000060332
Gene Name transmembrane channel-like gene family 2
Synonyms
MMRRC Submission 039985-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.267) question?
Stock # R1972 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130037114-130106365 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 130056584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077988] [ENSMUST00000166774]
AlphaFold Q8R4P4
Predicted Effect probably benign
Transcript: ENSMUST00000077988
SMART Domains Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 100% (77/77)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A G 8: 112,717,050 (GRCm39) probably benign Het
Bbs2 A G 8: 94,807,805 (GRCm39) probably benign Het
Bcl9 A C 3: 97,114,518 (GRCm39) D1035E probably damaging Het
Bmpr2 A G 1: 59,852,762 (GRCm39) E31G possibly damaging Het
Borcs5 A G 6: 134,687,137 (GRCm39) D164G probably damaging Het
Cap2 A G 13: 46,791,375 (GRCm39) R181G probably damaging Het
Ccdc113 A T 8: 96,264,874 (GRCm39) H128L probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chat C T 14: 32,146,148 (GRCm39) V342I probably benign Het
Chrm4 C T 2: 91,757,838 (GRCm39) A82V probably benign Het
Cyp2d22 A T 15: 82,260,028 (GRCm39) M52K probably benign Het
Dennd2c T C 3: 103,039,014 (GRCm39) V54A probably benign Het
Dgka C T 10: 128,556,335 (GRCm39) G717D probably damaging Het
Dnah1 C T 14: 30,987,348 (GRCm39) W3550* probably null Het
Eif2ak1 A G 5: 143,821,532 (GRCm39) T283A probably benign Het
Entrep2 A T 7: 64,425,516 (GRCm39) I192N possibly damaging Het
Fcgbp A T 7: 27,793,617 (GRCm39) Y1173F probably benign Het
Flt1 G A 5: 147,591,903 (GRCm39) probably benign Het
Gpr149 T C 3: 62,438,216 (GRCm39) K647R probably benign Het
Gsdma2 T C 11: 98,541,744 (GRCm39) V157A probably benign Het
Heatr4 T A 12: 84,001,794 (GRCm39) I884F probably damaging Het
Ift56 C A 6: 38,387,738 (GRCm39) N396K probably benign Het
Il17ra A G 6: 120,459,177 (GRCm39) E776G probably benign Het
Inpp5d T C 1: 87,604,036 (GRCm39) S235P probably benign Het
Iqgap3 T A 3: 87,991,235 (GRCm39) probably null Het
Isoc2a T A 7: 4,895,086 (GRCm39) D171E probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kcnk12 T C 17: 88,104,560 (GRCm39) D108G possibly damaging Het
Klra9 A T 6: 130,159,345 (GRCm39) probably null Het
Lgmn A G 12: 102,362,080 (GRCm39) probably benign Het
Morf4l1 A T 9: 89,977,267 (GRCm39) probably benign Het
Mthfr T C 4: 148,136,384 (GRCm39) I380T probably damaging Het
Mybpc1 T C 10: 88,387,404 (GRCm39) I436V probably benign Het
Naip5 A G 13: 100,349,278 (GRCm39) V1350A probably damaging Het
Neil2 A T 14: 63,423,526 (GRCm39) C36S possibly damaging Het
Nlrx1 A G 9: 44,164,753 (GRCm39) V897A probably benign Het
Nod2 A T 8: 89,379,501 (GRCm39) M8L probably damaging Het
Nop2 A G 6: 125,111,602 (GRCm39) T112A probably benign Het
Nrap T A 19: 56,345,785 (GRCm39) T608S probably damaging Het
Nuak2 A T 1: 132,258,340 (GRCm39) H257L probably damaging Het
Or10x1 T C 1: 174,197,136 (GRCm39) F218L probably benign Het
Or2ag12 T C 7: 106,277,426 (GRCm39) D89G probably benign Het
Or4c113 A T 2: 88,884,891 (GRCm39) M293K probably benign Het
Or52e8 T C 7: 104,625,106 (GRCm39) I33V possibly damaging Het
Or5ac25 A T 16: 59,182,476 (GRCm39) V35D probably damaging Het
Or5b119 T C 19: 13,457,058 (GRCm39) N168S probably benign Het
Or8b40 T A 9: 38,027,863 (GRCm39) M257K possibly damaging Het
Pde1a T C 2: 79,696,065 (GRCm39) E358G probably damaging Het
Pdlim1 A T 19: 40,211,581 (GRCm39) S237R probably damaging Het
Pithd1 T C 4: 135,714,340 (GRCm39) D36G probably damaging Het
Ppp2r3d A G 9: 101,088,976 (GRCm39) F449S probably benign Het
Prr11 G A 11: 86,989,580 (GRCm39) R264C possibly damaging Het
Rbm43 A T 2: 51,815,548 (GRCm39) H224Q probably benign Het
Rfx5 C T 3: 94,864,603 (GRCm39) L250F probably damaging Het
Rgs22 T A 15: 36,103,982 (GRCm39) I160L probably benign Het
Rorb T A 19: 18,929,567 (GRCm39) Q393H probably damaging Het
Rpl13a T A 7: 44,775,419 (GRCm39) K368* probably null Het
Scaf8 T G 17: 3,219,646 (GRCm39) S276R unknown Het
Scube2 A T 7: 109,408,421 (GRCm39) N675K probably benign Het
Sec22c A T 9: 121,517,320 (GRCm39) M126K possibly damaging Het
Serpinb11 T C 1: 107,297,210 (GRCm39) F29L probably damaging Het
Sis A G 3: 72,828,337 (GRCm39) F1217S probably damaging Het
Slc18a2 A G 19: 59,263,085 (GRCm39) D294G possibly damaging Het
Slc9c1 A G 16: 45,413,835 (GRCm39) T988A possibly damaging Het
Smndc1 A C 19: 53,371,986 (GRCm39) probably null Het
Sned1 G A 1: 93,192,795 (GRCm39) G361S probably damaging Het
Spatc1 A T 15: 76,169,075 (GRCm39) probably null Het
Stab2 A T 10: 86,796,180 (GRCm39) C356S probably damaging Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tbc1d30 A T 10: 121,142,135 (GRCm39) probably null Het
Tenm3 T C 8: 48,681,626 (GRCm39) E2668G probably damaging Het
Tigar A G 6: 127,064,889 (GRCm39) V253A possibly damaging Het
Ugt1a10 A T 1: 87,983,769 (GRCm39) Y189F probably damaging Het
Vmn2r82 A G 10: 79,214,680 (GRCm39) D221G probably damaging Het
Xkr5 C T 8: 18,991,997 (GRCm39) V131M probably damaging Het
Other mutations in Tmc2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGTATTCCAACTAAGGGTCTGAAC -3'
(R):5'- AAGTATGGAGTACTGGCCAGC -3'

Sequencing Primer
(F):5'- TCCAACTAAGGGTCTGAACATGTAAG -3'
(R):5'- AGTACTGGCCAGCGGTAG -3'
Posted On 2014-08-25