Incidental Mutation 'R6451:Tmc2'
| ID |
516332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc2
|
| Ensembl Gene |
ENSMUSG00000060332 |
| Gene Name |
transmembrane channel-like gene family 2 |
| Synonyms |
|
| MMRRC Submission |
044587-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R6451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130037114-130106365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130106123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 885
(R885G)
|
| 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: R885G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: R885G
| 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: R885G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: R885G
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,842,733 (GRCm39) |
V1164E |
probably damaging |
Het |
| Acnat2 |
A |
G |
4: 49,380,262 (GRCm39) |
V372A |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,392,883 (GRCm39) |
D313E |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,735,709 (GRCm39) |
R200* |
probably null |
Het |
| Akr1d1 |
G |
A |
6: 37,527,150 (GRCm39) |
E129K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,787,230 (GRCm39) |
V382E |
probably damaging |
Het |
| Arhgef40 |
G |
A |
14: 52,238,456 (GRCm39) |
V1312I |
probably damaging |
Het |
| Bbs9 |
A |
G |
9: 22,479,060 (GRCm39) |
S168G |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,276,541 (GRCm39) |
K202* |
probably null |
Het |
| Cnep1r1 |
A |
G |
8: 88,846,438 (GRCm39) |
E19G |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,022,765 (GRCm39) |
Q1124L |
probably benign |
Het |
| Dph1 |
G |
T |
11: 75,072,143 (GRCm39) |
A242D |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,719,738 (GRCm39) |
Y73* |
probably null |
Het |
| Esp18 |
G |
T |
17: 39,720,853 (GRCm39) |
E33* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,211,241 (GRCm39) |
I395K |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,844,969 (GRCm39) |
C38Y |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,956,105 (GRCm39) |
S1474T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,868,670 (GRCm39) |
V45M |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,655,723 (GRCm39) |
F937I |
possibly damaging |
Het |
| Llgl2 |
G |
A |
11: 115,735,767 (GRCm39) |
G121D |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nsmce4a |
G |
T |
7: 130,144,479 (GRCm39) |
|
|
Het |
| Or5w20 |
T |
C |
2: 87,726,935 (GRCm39) |
Y131H |
probably damaging |
Het |
| Or6c69c |
A |
T |
10: 129,911,007 (GRCm39) |
M243L |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,286,469 (GRCm39) |
V590E |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,021,412 (GRCm39) |
S510L |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rnf19a |
A |
G |
15: 36,253,205 (GRCm39) |
I378T |
possibly damaging |
Het |
| Rnf216 |
G |
T |
5: 142,978,589 (GRCm39) |
P793T |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Son |
T |
A |
16: 91,454,490 (GRCm39) |
M1079K |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,596 (GRCm39) |
M166K |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,044,767 (GRCm39) |
E1468K |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,825,705 (GRCm39) |
I84F |
possibly damaging |
Het |
| Tas2r107 |
T |
A |
6: 131,636,977 (GRCm39) |
D24V |
possibly damaging |
Het |
| Tox3 |
C |
A |
8: 90,984,687 (GRCm39) |
R164L |
probably benign |
Het |
| Ttc5 |
A |
G |
14: 51,004,664 (GRCm39) |
I380T |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,076 (GRCm39) |
N89S |
possibly damaging |
Het |
| Zfp944 |
T |
C |
17: 22,557,846 (GRCm39) |
E467G |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,813,982 (GRCm39) |
D2857V |
possibly damaging |
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 |
|
R5983:Tmc2
|
UTSW |
2 |
130,089,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCCCAGAAAGTTCCGATTGG -3'
(R):5'- AACCGCTAGTGTGTGAGGTC -3'
Sequencing Primer
(F):5'- TCCGATTGGAACACAGACG -3'
(R):5'- GTGTGAGGTCCATTGCTCTTCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation