Incidental Mutation 'R9169:Tmc2'
ID 696233
Institutional Source Beutler Lab
Gene Symbol Tmc2
Ensembl Gene ENSMUSG00000060332
Gene Name transmembrane channel-like gene family 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.455) question?
Stock # R9169 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 130195194-130264445 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130241596 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 491 (I491N)
Ref Sequence ENSEMBL: ENSMUSP00000077139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077988] [ENSMUST00000166774]
AlphaFold Q8R4P4
Predicted Effect probably damaging
Transcript: ENSMUST00000077988
AA Change: I491N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: I491N

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: I491N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: I491N

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (92/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A T 7: 41,611,685 probably benign Het
9230104L09Rik A G 2: 148,850,669 probably null Het
9330182O14Rik A T 15: 40,142,236 K17* probably null Het
Adamtsl3 A C 7: 82,573,980 I990L probably damaging Het
Add1 T A 5: 34,630,778 S724T possibly damaging Het
Afdn A G 17: 13,852,365 N865S probably benign Het
Amot A T X: 145,461,749 L435H Het
Ap1m2 T A 9: 21,312,227 I8F probably benign Het
Atp8a1 T C 5: 67,667,601 T811A Het
Axin2 A G 11: 108,931,552 D310G probably damaging Het
BC005561 T A 5: 104,518,482 L290H probably damaging Het
Bin1 T G 18: 32,429,198 F379L possibly damaging Het
Bin2 C A 15: 100,656,750 S91I possibly damaging Het
Birc5 A G 11: 117,852,773 N111S probably benign Het
Blk T A 14: 63,382,681 N137Y probably damaging Het
Cacna1d G A 14: 30,074,916 A1534V probably damaging Het
Cacna2d1 T C 5: 16,246,759 V207A probably damaging Het
Ccr3 A G 9: 124,028,912 I95V probably benign Het
Celsr2 T C 3: 108,402,546 D1579G probably benign Het
Cfap36 C A 11: 29,246,541 K19N probably benign Het
Cfap52 C T 11: 67,954,034 V70M possibly damaging Het
Chid1 A T 7: 141,513,809 I298N probably damaging Het
Clstn1 G T 4: 149,646,865 R888L possibly damaging Het
Col6a5 T A 9: 105,945,397 T254S unknown Het
Coro6 C T 11: 77,468,503 P301S probably damaging Het
Dchs1 T C 7: 105,772,907 D102G probably damaging Het
Dnah14 T C 1: 181,605,816 F353L probably benign Het
Dnajc10 A T 2: 80,332,971 I344L probably benign Het
Dst T C 1: 34,264,571 V4026A probably damaging Het
Exo1 A G 1: 175,887,637 E114G possibly damaging Het
Fabp7 A G 10: 57,786,343 I109V probably benign Het
Fars2 T C 13: 36,232,126 F206S probably damaging Het
Gbp8 C T 5: 105,031,289 A115T possibly damaging Het
Gm10767 T C 13: 66,907,999 F19L probably damaging Het
Gm17067 T C 7: 42,708,203 T292A probably benign Het
Gp2 T C 7: 119,442,706 D532G probably benign Het
Gtf2i C A 5: 134,242,680 A917S probably damaging Het
Guca1b A G 17: 47,391,902 E169G possibly damaging Het
Hdac1 A T 4: 129,534,706 Y24N probably damaging Het
Hepacam T C 9: 37,382,397 F251L probably damaging Het
Hmcn1 G T 1: 150,630,341 N3811K probably damaging Het
Htra4 A T 8: 25,030,117 M391K probably damaging Het
Ino80d T C 1: 63,058,771 T760A probably benign Het
Ints1 T G 5: 139,762,831 T1074P probably benign Het
Itga6 A T 2: 71,816,671 Q75L possibly damaging Het
Mapk14 A C 17: 28,741,840 N272T probably benign Het
Meikin A T 11: 54,394,691 T185S possibly damaging Het
Moxd2 C T 6: 40,883,556 G318D possibly damaging Het
Mtmr3 G A 11: 4,487,739 T905I probably benign Het
Muc16 A G 9: 18,656,528 I1565T unknown Het
Myh14 A G 7: 44,621,857 S1500P possibly damaging Het
Nfkb1 T C 3: 135,605,113 E475G probably benign Het
Ngef C A 1: 87,545,859 R67L probably benign Het
Olfr1489 A G 19: 13,633,539 I143V probably benign Het
Olfr273 T A 4: 52,856,052 I154F probably damaging Het
Olfr823 A C 10: 130,111,854 I312R probably benign Het
Olfr935 A G 9: 38,995,277 S53P probably benign Het
Olr1 T C 6: 129,493,565 E213G probably damaging Het
Pcdhga3 C T 18: 37,676,035 L514F probably damaging Het
Pcnt A G 10: 76,385,738 M2018T possibly damaging Het
Pde8a C T 7: 81,332,871 T746I probably damaging Het
Pik3ca T C 3: 32,449,606 probably null Het
Psapl1 A G 5: 36,205,536 S491G possibly damaging Het
Psmf1 A T 2: 151,735,537 D73E probably benign Het
Ptprcap A G 19: 4,156,359 D147G probably benign Het
Rdh8 T A 9: 20,825,639 V309E possibly damaging Het
Rhobtb3 T A 13: 75,893,002 T396S probably benign Het
Rpa1 A T 11: 75,310,173 L475* probably null Het
Rtkn T A 6: 83,152,209 S562T probably damaging Het
Scamp1 C T 13: 94,253,025 D35N probably benign Het
Scarb1 C T 5: 125,294,082 A309T probably damaging Het
Scube1 G A 15: 83,659,097 T180M possibly damaging Het
Sez6 T G 11: 77,977,647 F945V probably damaging Het
Sf3a1 C T 11: 4,166,681 T124M probably benign Het
Smchd1 T C 17: 71,415,664 K759E probably damaging Het
Sort1 C A 3: 108,340,678 C446* probably null Het
Sun1 T A 5: 139,233,518 S360T probably benign Het
Supv3l1 A G 10: 62,432,459 F536L probably damaging Het
Taar6 A C 10: 23,985,375 V91G probably damaging Het
Tex45 A T 8: 3,475,967 Y40F possibly damaging Het
Themis C A 10: 28,782,237 T420N probably benign Het
Trmt112 T C 19: 6,910,819 I113T probably damaging Het
Ttc14 C T 3: 33,802,922 Q183* probably null Het
Txndc16 T A 14: 45,135,928 D748V probably damaging Het
Xkr6 A G 14: 63,606,618 D30G possibly damaging Het
Zc3h14 C T 12: 98,779,246 S498L probably damaging Het
Zc3h7b A C 15: 81,776,983 D341A probably benign Het
Zfp108 T A 7: 24,261,498 C505S probably damaging Het
Zfp354c A C 11: 50,815,261 L329R probably damaging Het
Zfyve16 T A 13: 92,521,363 D680V probably damaging Het
Znfx1 A G 2: 167,055,265 F580L probably benign Het
Other mutations in Tmc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00465:Tmc2 APN 2 130261304 missense possibly damaging 0.94
IGL00966:Tmc2 APN 2 130264012 missense probably benign 0.02
IGL01094:Tmc2 APN 2 130260166 splice site probably benign
IGL01331:Tmc2 APN 2 130232356 missense probably damaging 1.00
IGL01660:Tmc2 APN 2 130260224 nonsense probably null
IGL01926:Tmc2 APN 2 130260240 missense possibly damaging 0.68
IGL02150:Tmc2 APN 2 130240153 missense probably damaging 0.98
IGL02273:Tmc2 APN 2 130229206 missense probably damaging 0.99
IGL03137:Tmc2 APN 2 130240130 missense probably damaging 1.00
IGL03179:Tmc2 APN 2 130229187 missense probably damaging 1.00
FR4449:Tmc2 UTSW 2 130240196 missense probably damaging 1.00
H8786:Tmc2 UTSW 2 130226262 missense probably damaging 1.00
PIT4418001:Tmc2 UTSW 2 130248651 missense probably damaging 0.96
R0364:Tmc2 UTSW 2 130202103 missense probably benign 0.00
R1183:Tmc2 UTSW 2 130247976 missense probably damaging 1.00
R1446:Tmc2 UTSW 2 130248730 missense probably damaging 0.97
R1458:Tmc2 UTSW 2 130248762 missense probably damaging 1.00
R1589:Tmc2 UTSW 2 130247960 missense probably damaging 0.99
R1656:Tmc2 UTSW 2 130247934 missense possibly damaging 0.93
R1686:Tmc2 UTSW 2 130256116 missense possibly damaging 0.71
R1765:Tmc2 UTSW 2 130260225 missense probably benign 0.34
R1776:Tmc2 UTSW 2 130234869 missense probably damaging 1.00
R1873:Tmc2 UTSW 2 130248756 missense possibly damaging 0.68
R1972:Tmc2 UTSW 2 130214664 splice site probably benign
R2020:Tmc2 UTSW 2 130232385 missense probably damaging 1.00
R2208:Tmc2 UTSW 2 130214563 splice site probably null
R3968:Tmc2 UTSW 2 130202071 missense probably benign 0.02
R4732:Tmc2 UTSW 2 130261397 splice site probably null
R4733:Tmc2 UTSW 2 130261397 splice site probably null
R4989:Tmc2 UTSW 2 130202041 missense possibly damaging 0.88
R5143:Tmc2 UTSW 2 130234818 missense probably damaging 0.98
R5411:Tmc2 UTSW 2 130240115 missense probably damaging 1.00
R5514:Tmc2 UTSW 2 130241644 missense possibly damaging 0.94
R5690:Tmc2 UTSW 2 130232386 missense probably damaging 1.00
R5983:Tmc2 UTSW 2 130247976 missense probably damaging 1.00
R6451:Tmc2 UTSW 2 130264203 missense probably damaging 0.99
R6927:Tmc2 UTSW 2 130261380 missense probably benign
R7132:Tmc2 UTSW 2 130232409 missense possibly damaging 0.82
R7240:Tmc2 UTSW 2 130234804 missense possibly damaging 0.80
R7353:Tmc2 UTSW 2 130196577 critical splice donor site probably null
R8167:Tmc2 UTSW 2 130241568 missense probably benign 0.04
R8554:Tmc2 UTSW 2 130264164 missense probably benign 0.00
R9134:Tmc2 UTSW 2 130232401 missense probably benign 0.21
R9209:Tmc2 UTSW 2 130261397 splice site probably null
R9232:Tmc2 UTSW 2 130243129 missense probably damaging 1.00
R9725:Tmc2 UTSW 2 130247961 missense probably damaging 0.99
X0019:Tmc2 UTSW 2 130208285 missense possibly damaging 0.59
X0052:Tmc2 UTSW 2 130201972 missense probably benign 0.00
Z1177:Tmc2 UTSW 2 130208296 missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- TTATACACTGAGCCATCTCACCATC -3'
(R):5'- CTATGACAGCTGTGAAGCAAC -3'

Sequencing Primer
(F):5'- TCCCCAGCCCCATGAATCATG -3'
(R):5'- TGTGAAGCAACATAGAAAAACCTGC -3'
Posted On 2022-02-07