Incidental Mutation 'R5983:Tmc2'
ID |
481513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmc2
|
Ensembl Gene |
ENSMUSG00000060332 |
Gene Name |
transmembrane channel-like gene family 2 |
Synonyms |
|
MMRRC Submission |
044164-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.313)
|
Stock # |
R5983 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130037114-130106365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 130089896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 627
(M627K)
|
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: M627K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000077139 Gene: ENSMUSG00000060332 AA Change: M627K
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: M627K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125843 Gene: ENSMUSG00000060332 AA Change: M627K
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 |
0.5526 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
100% (29/29) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
A |
19: 43,807,942 (GRCm39) |
M861K |
probably benign |
Het |
Abhd18 |
T |
A |
3: 40,864,979 (GRCm39) |
F73L |
probably damaging |
Het |
Abraxas1 |
A |
G |
5: 100,955,777 (GRCm39) |
V237A |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,974,378 (GRCm39) |
Y208C |
probably damaging |
Het |
Aire |
A |
G |
10: 77,878,903 (GRCm39) |
L48P |
probably damaging |
Het |
Bach2 |
A |
T |
4: 32,563,324 (GRCm39) |
E597V |
probably damaging |
Het |
Ccdc170 |
A |
T |
10: 4,470,851 (GRCm39) |
R232* |
probably null |
Het |
Cfap100 |
A |
C |
6: 90,396,373 (GRCm39) |
|
probably benign |
Het |
Dppa2 |
G |
A |
16: 48,136,204 (GRCm39) |
M185I |
probably benign |
Het |
Ecsit |
C |
T |
9: 21,989,443 (GRCm39) |
|
probably null |
Het |
Fbxw26 |
A |
G |
9: 109,547,033 (GRCm39) |
I464T |
possibly damaging |
Het |
Grm8 |
T |
C |
6: 27,760,220 (GRCm39) |
K370R |
probably benign |
Het |
Ide |
C |
T |
19: 37,249,549 (GRCm39) |
|
probably null |
Het |
Katnip |
T |
A |
7: 125,449,545 (GRCm39) |
W870R |
probably damaging |
Het |
Morn3 |
T |
C |
5: 123,175,851 (GRCm39) |
D179G |
possibly damaging |
Het |
Nkapd1 |
A |
G |
9: 50,519,142 (GRCm39) |
S157P |
probably damaging |
Het |
Nvl |
A |
T |
1: 180,964,471 (GRCm39) |
D102E |
probably benign |
Het |
Or5an10 |
T |
A |
19: 12,276,467 (GRCm39) |
I10F |
probably benign |
Het |
Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
Rsph9 |
A |
G |
17: 46,440,406 (GRCm39) |
M230T |
probably benign |
Het |
Sacs |
G |
A |
14: 61,442,648 (GRCm39) |
V1565M |
probably damaging |
Het |
Serpina3n |
T |
C |
12: 104,375,288 (GRCm39) |
L120P |
probably damaging |
Het |
Spsb2 |
A |
C |
6: 124,786,711 (GRCm39) |
E148A |
probably benign |
Het |
Tmem147 |
T |
C |
7: 30,427,484 (GRCm39) |
D111G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,572,725 (GRCm39) |
V17729A |
possibly damaging |
Het |
Vmn2r104 |
G |
A |
17: 20,261,970 (GRCm39) |
P387S |
probably damaging |
Het |
Zfp940 |
C |
T |
7: 29,544,477 (GRCm39) |
V477M |
possibly damaging |
Het |
Zw10 |
A |
G |
9: 48,988,745 (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 |
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 |
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'- CAAGGCAGGCATTTTGGGTG -3'
(R):5'- ACAATCCTACAGACTCTGCG -3'
Sequencing Primer
(F):5'- GAGTTGTCTTGACTTGACAGGCTC -3'
(R):5'- GCAACACACTGGTTACCTTTAG -3'
|
Posted On |
2017-06-26 |