Incidental Mutation 'R6927:Tmc2'
| ID |
541140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc2
|
| Ensembl Gene |
ENSMUSG00000060332 |
| Gene Name |
transmembrane channel-like gene family 2 |
| Synonyms |
|
| MMRRC Submission |
045044-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R6927 (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 130103300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 812
(H812R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077988]
[ENSMUST00000166774]
|
| AlphaFold |
Q8R4P4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077988
AA Change: H812R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: H812R
| 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 benign
Transcript: ENSMUST00000166774
AA Change: H812R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: H812R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 96.1%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,317 (GRCm39) |
W229R |
probably damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,998 (GRCm39) |
|
probably null |
Het |
| Ahi1 |
A |
T |
10: 20,930,968 (GRCm39) |
N936I |
probably damaging |
Het |
| Ass1 |
T |
C |
2: 31,404,813 (GRCm39) |
S365P |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,935,072 (GRCm39) |
K208E |
possibly damaging |
Het |
| Bag6 |
G |
A |
17: 35,364,898 (GRCm39) |
|
probably null |
Het |
| Bptf |
A |
T |
11: 106,945,421 (GRCm39) |
V2491E |
probably damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,904,619 (GRCm39) |
R83W |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,126,434 (GRCm39) |
F396L |
probably damaging |
Het |
| Cyp3a13 |
G |
A |
5: 137,893,546 (GRCm39) |
P439S |
probably damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,364,770 (GRCm39) |
H4279N |
probably damaging |
Het |
| Fam118a |
T |
C |
15: 84,929,038 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fasn |
T |
A |
11: 120,699,115 (GRCm39) |
D2386V |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,477,532 (GRCm39) |
V2170I |
probably benign |
Het |
| Fdps |
T |
C |
3: 89,000,958 (GRCm39) |
R374G |
probably benign |
Het |
| Fhl5 |
T |
C |
4: 25,213,681 (GRCm39) |
D85G |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,861 (GRCm39) |
M144V |
possibly damaging |
Het |
| Gask1b |
T |
C |
3: 79,848,769 (GRCm39) |
I505T |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,765 (GRCm39) |
S135P |
probably damaging |
Het |
| Hey2 |
A |
T |
10: 30,710,413 (GRCm39) |
D113E |
probably benign |
Het |
| Hoxc5 |
T |
A |
15: 102,923,807 (GRCm39) |
I201N |
probably damaging |
Het |
| Ighv1-50 |
A |
T |
12: 115,083,794 (GRCm39) |
W3R |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,380,348 (GRCm39) |
I208T |
probably benign |
Het |
| Iqcj |
T |
C |
3: 67,954,624 (GRCm39) |
L43P |
possibly damaging |
Het |
| Itga10 |
T |
C |
3: 96,564,030 (GRCm39) |
F895L |
probably damaging |
Het |
| Kdm4b |
T |
C |
17: 56,706,435 (GRCm39) |
C850R |
probably damaging |
Het |
| Krt25 |
A |
T |
11: 99,208,205 (GRCm39) |
I341N |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,168,567 (GRCm39) |
R621* |
probably null |
Het |
| Lipm |
T |
C |
19: 34,078,563 (GRCm39) |
|
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,098,441 (GRCm39) |
D286V |
probably damaging |
Het |
| Mad2l2 |
T |
A |
4: 148,225,411 (GRCm39) |
V27E |
possibly damaging |
Het |
| Map4k4 |
T |
A |
1: 40,050,842 (GRCm39) |
H768Q |
probably benign |
Het |
| Mgat4d |
A |
G |
8: 84,081,496 (GRCm39) |
N83S |
probably benign |
Het |
| Nucb1 |
C |
T |
7: 45,148,282 (GRCm39) |
R141H |
possibly damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,491 (GRCm39) |
K274E |
possibly damaging |
Het |
| Pcdhga2 |
A |
C |
18: 37,803,719 (GRCm39) |
D521A |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,964,586 (GRCm39) |
V251A |
probably benign |
Het |
| Pdf |
A |
T |
8: 107,774,833 (GRCm39) |
M133K |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,166,057 (GRCm39) |
F2058S |
probably damaging |
Het |
| Plekhb2 |
T |
A |
1: 34,915,982 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
G |
C |
9: 101,052,547 (GRCm39) |
H221D |
probably damaging |
Het |
| Prl2c5 |
A |
T |
13: 13,357,503 (GRCm39) |
|
probably null |
Het |
| Puf60 |
T |
A |
15: 75,947,663 (GRCm39) |
M49L |
probably benign |
Het |
| Rdh16f1 |
T |
C |
10: 127,624,561 (GRCm39) |
V133A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,778,946 (GRCm39) |
D389V |
probably damaging |
Het |
| Slc22a23 |
G |
T |
13: 34,528,362 (GRCm39) |
A140D |
probably benign |
Het |
| Slc25a42 |
A |
G |
8: 70,641,573 (GRCm39) |
L136P |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,020,519 (GRCm39) |
M284L |
probably damaging |
Het |
| Tas2r115 |
T |
A |
6: 132,714,895 (GRCm39) |
I19F |
probably damaging |
Het |
| Vmn2r26 |
A |
G |
6: 124,016,057 (GRCm39) |
S174G |
possibly damaging |
Het |
| Vstm4 |
T |
A |
14: 32,585,959 (GRCm39) |
|
probably null |
Het |
| Vwc2 |
C |
A |
11: 11,104,250 (GRCm39) |
P261T |
probably damaging |
Het |
| Zfhx3 |
C |
G |
8: 109,683,453 (GRCm39) |
H3631D |
unknown |
Het |
| Zfp335 |
A |
G |
2: 164,735,640 (GRCm39) |
C1105R |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,755 (GRCm39) |
L136P |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,803,983 (GRCm39) |
R2575H |
probably 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 |
|
R6451:Tmc2
|
UTSW |
2 |
130,106,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GGGTCTAAGCATCACACACC -3'
(R):5'- CCCACCAGCTTATTCTATGTGG -3'
Sequencing Primer
(F):5'- CCATACCCTTTGCTGGCATAAATGAC -3'
(R):5'- TGGACTGTGAGCCACCATATG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation