Incidental Mutation 'R5411:Tmc2'
| ID |
427450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc2
|
| Ensembl Gene |
ENSMUSG00000060332 |
| Gene Name |
transmembrane channel-like gene family 2 |
| Synonyms |
|
| MMRRC Submission |
042980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R5411 (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 G
at 130082035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 406
(H406R)
|
| 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: H406R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: H406R
| 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: H406R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: H406R
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
C |
A |
9: 53,493,946 (GRCm39) |
V392F |
probably damaging |
Het |
| Ache |
C |
T |
5: 137,288,326 (GRCm39) |
P11S |
possibly damaging |
Het |
| Ache |
T |
A |
5: 137,288,692 (GRCm39) |
|
probably null |
Het |
| Acoxl |
A |
T |
2: 127,696,821 (GRCm39) |
H23L |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,306,650 (GRCm39) |
|
probably null |
Het |
| Adar |
T |
A |
3: 89,646,519 (GRCm39) |
F45I |
probably benign |
Het |
| Adgrf4 |
A |
C |
17: 42,978,104 (GRCm39) |
L413R |
probably damaging |
Het |
| Atp6v1g3 |
A |
T |
1: 138,215,627 (GRCm39) |
I96F |
probably benign |
Het |
| Brsk2 |
T |
C |
7: 141,554,594 (GRCm39) |
M653T |
probably benign |
Het |
| Cacna1s |
G |
T |
1: 136,033,549 (GRCm39) |
V1275L |
probably benign |
Het |
| Ces3b |
T |
C |
8: 105,815,264 (GRCm39) |
V5A |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,312,969 (GRCm39) |
I281N |
probably damaging |
Het |
| Col10a1 |
A |
G |
10: 34,270,553 (GRCm39) |
E175G |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,142,902 (GRCm39) |
S197P |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,960,471 (GRCm39) |
R3315W |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 77,091,914 (GRCm39) |
E443G |
probably damaging |
Het |
| Dhx9 |
G |
T |
1: 153,356,969 (GRCm39) |
S93R |
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,676 (GRCm39) |
H112R |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,843,887 (GRCm39) |
N486K |
probably damaging |
Het |
| Esp8 |
C |
T |
17: 40,840,909 (GRCm39) |
R57* |
probably null |
Het |
| Eya3 |
A |
T |
4: 132,417,090 (GRCm39) |
I130F |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,143,052 (GRCm39) |
L4266I |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,793,019 (GRCm39) |
D983E |
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,106,791 (GRCm39) |
S640P |
probably damaging |
Het |
| Gys2 |
C |
T |
6: 142,394,147 (GRCm39) |
G464R |
probably damaging |
Het |
| Heatr5a |
G |
A |
12: 51,935,026 (GRCm39) |
T1659I |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,403 (GRCm39) |
D518G |
probably damaging |
Het |
| Kcnk13 |
A |
G |
12: 100,027,510 (GRCm39) |
Y195C |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,759,782 (GRCm39) |
H722L |
probably damaging |
Het |
| Luzp1 |
C |
A |
4: 136,270,653 (GRCm39) |
Q959K |
possibly damaging |
Het |
| Mep1b |
T |
A |
18: 21,219,306 (GRCm39) |
H153Q |
probably damaging |
Het |
| Mfsd13b |
A |
T |
7: 120,599,346 (GRCm39) |
I381F |
probably benign |
Het |
| Mvk |
A |
G |
5: 114,597,034 (GRCm39) |
T334A |
probably benign |
Het |
| Naa30 |
T |
C |
14: 49,425,008 (GRCm39) |
V320A |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,382,254 (GRCm39) |
G152S |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,185,384 (GRCm39) |
S949R |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,699,046 (GRCm39) |
I214N |
possibly damaging |
Het |
| Nsf |
G |
T |
11: 103,773,637 (GRCm39) |
N292K |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,653,945 (GRCm39) |
T505A |
probably benign |
Het |
| Or4c1 |
A |
C |
2: 89,133,920 (GRCm39) |
S5R |
probably benign |
Het |
| Or4p7 |
A |
G |
2: 88,221,605 (GRCm39) |
T5A |
probably benign |
Het |
| Or5h24 |
T |
A |
16: 58,919,067 (GRCm39) |
H96L |
unknown |
Het |
| Or9s23 |
A |
T |
1: 92,501,546 (GRCm39) |
T218S |
probably benign |
Het |
| P4ha3 |
A |
T |
7: 99,943,022 (GRCm39) |
R136W |
probably damaging |
Het |
| Parp12 |
A |
G |
6: 39,067,142 (GRCm39) |
V550A |
probably damaging |
Het |
| Phf11a |
T |
C |
14: 59,532,387 (GRCm39) |
D16G |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,088,207 (GRCm39) |
M1K |
probably null |
Het |
| Rab3gap2 |
A |
G |
1: 185,009,342 (GRCm39) |
|
probably null |
Het |
| Sco1 |
A |
G |
11: 66,954,784 (GRCm39) |
D263G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
| Sfpq |
T |
A |
4: 126,915,516 (GRCm39) |
S103T |
unknown |
Het |
| Shisa7 |
G |
A |
7: 4,832,975 (GRCm39) |
R263C |
probably damaging |
Het |
| Ssc4d |
T |
A |
5: 135,992,254 (GRCm39) |
D144V |
probably benign |
Het |
| Stxbp5l |
G |
A |
16: 36,950,213 (GRCm39) |
P1044L |
probably damaging |
Het |
| Tgm6 |
G |
A |
2: 129,987,116 (GRCm39) |
R528Q |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,849,992 (GRCm39) |
H892Q |
probably benign |
Het |
| Tmtc1 |
A |
T |
6: 148,345,397 (GRCm39) |
|
probably null |
Het |
| Ttc19 |
A |
G |
11: 62,174,977 (GRCm39) |
I139M |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,681,959 (GRCm39) |
N3004S |
probably damaging |
Het |
| Wdr3 |
C |
A |
3: 100,050,300 (GRCm39) |
G746W |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,744,165 (GRCm39) |
Q500L |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,820,071 (GRCm39) |
D961E |
probably benign |
Het |
| Zkscan16 |
CTTCAGCTTTCA |
CTTCA |
4: 58,956,745 (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 |
|
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'- ACCATGTCTAGCAAGAGTAAATCTC -3'
(R):5'- TAGCATCACTGGCGACATCC -3'
Sequencing Primer
(F):5'- TCTAGCAAGAGTAAATCTCAGTTTTC -3'
(R):5'- ACTGGCGACATCCGTCTTAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation