Incidental Mutation 'R5143:Tmc2'
ID 396510
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: 0.267) question?
Stock # R5143 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130037114-130106365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130076738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 355 (S355C)
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: S355C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: S355C

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 damaging
Transcript: ENSMUST00000166774
AA Change: S355C

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: S355C

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,887,064 (GRCm39) probably null Het
Abcc2 T C 19: 43,810,100 (GRCm39) I886T probably benign Het
Adrb2 T C 18: 62,311,847 (GRCm39) Y326C probably damaging Het
Aplp1 G A 7: 30,140,548 (GRCm39) R334C probably damaging Het
AY358078 T C 14: 52,040,006 (GRCm39) S39P unknown Het
Bpifb2 A T 2: 153,720,424 (GRCm39) D61V probably damaging Het
Caap1 A T 4: 94,389,619 (GRCm39) N238K probably damaging Het
Cfap54 A G 10: 92,865,020 (GRCm39) V726A possibly damaging Het
Chrna7 T C 7: 62,755,895 (GRCm39) Y217C probably damaging Het
Crocc T A 4: 140,768,350 (GRCm39) T414S probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Dnah6 A T 6: 73,158,744 (GRCm39) F620I possibly damaging Het
Eogt A G 6: 97,102,545 (GRCm39) L256P probably damaging Het
F5 A G 1: 164,039,397 (GRCm39) I2002M probably damaging Het
Foxp1 A G 6: 98,922,493 (GRCm39) probably null Het
Fut8 A G 12: 77,411,983 (GRCm39) D111G probably benign Het
Golgb1 C T 16: 36,719,051 (GRCm39) A319V probably benign Het
Hoxd3 C T 2: 74,576,716 (GRCm39) R39C probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Or52b1 T A 7: 104,978,731 (GRCm39) I223F probably damaging Het
Pate8 T A 9: 36,493,200 (GRCm39) N41Y probably benign Het
Pcdhb2 A G 18: 37,429,785 (GRCm39) Y586C probably damaging Het
Plcd1 G A 9: 118,903,519 (GRCm39) Q442* probably null Het
Plppr5 A G 3: 117,419,552 (GRCm39) T207A probably benign Het
Pomt1 C A 2: 32,144,341 (GRCm39) A709E probably benign Het
Prmt8 A G 6: 127,709,677 (GRCm39) M61T probably benign Het
Ptpn23 A G 9: 110,214,506 (GRCm39) probably benign Het
Sbf2 T A 7: 110,021,747 (GRCm39) K493* probably null Het
Semp2l2a A G 8: 13,886,844 (GRCm39) S416P possibly damaging Het
Tonsl A G 15: 76,520,857 (GRCm39) S399P possibly damaging Het
Ttc14 T C 3: 33,863,050 (GRCm39) probably benign Het
Ttn A G 2: 76,568,409 (GRCm39) S19168P probably damaging Het
Usp17lb A T 7: 104,490,685 (GRCm39) S80T probably damaging Het
Vmn2r96 A G 17: 18,804,120 (GRCm39) I457V possibly damaging Het
Wdr64 G T 1: 175,553,979 (GRCm39) D170Y probably damaging Het
Zbtb42 T C 12: 112,645,948 (GRCm39) V41A 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
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
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'- TGACATCTGGGTACTCATAGGTAAC -3'
(R):5'- AAGCTTCCCAGTGGCTAGAG -3'

Sequencing Primer
(F):5'- AATTGACCTAACTAATGTCCCTCC -3'
(R):5'- CTAGAGGGACCCAGAGTTTTCTC -3'
Posted On 2016-06-21