Incidental Mutation 'R9232:Tmc2'
| ID |
700279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc2
|
| Ensembl Gene |
ENSMUSG00000060332 |
| Gene Name |
transmembrane channel-like gene family 2 |
| Synonyms |
|
| MMRRC Submission |
068986-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.313)
|
| Stock # |
R9232 (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 130085049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 559
(T559A)
|
| 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: T559A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077139
Gene: ENSMUSG00000060332
AA Change: T559A
| 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: T559A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125843
Gene: ENSMUSG00000060332
AA Change: T559A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
A |
T |
18: 10,652,198 (GRCm39) |
S278T |
probably benign |
Het |
| Adgrf1 |
T |
C |
17: 43,621,295 (GRCm39) |
Y511H |
probably benign |
Het |
| Atp5pd |
A |
G |
11: 115,309,221 (GRCm39) |
F38S |
probably benign |
Het |
| Cdc6 |
T |
G |
11: 98,801,201 (GRCm39) |
S151A |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,341 (GRCm39) |
M249K |
probably benign |
Het |
| Cenpt |
T |
C |
8: 106,571,793 (GRCm39) |
Q446R |
probably damaging |
Het |
| Cnnm1 |
T |
A |
19: 43,480,325 (GRCm39) |
S883T |
probably benign |
Het |
| Cntn6 |
T |
C |
6: 104,815,781 (GRCm39) |
W721R |
probably damaging |
Het |
| Defb43 |
A |
G |
14: 63,255,281 (GRCm39) |
K38R |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,463,022 (GRCm39) |
S522P |
probably benign |
Het |
| Erap1 |
T |
G |
13: 74,811,637 (GRCm39) |
S332R |
probably benign |
Het |
| Foxa3 |
C |
A |
7: 18,748,790 (GRCm39) |
R112L |
probably damaging |
Het |
| Foxf1 |
T |
A |
8: 121,811,715 (GRCm39) |
M193K |
possibly damaging |
Het |
| Gbp11 |
T |
C |
5: 105,476,290 (GRCm39) |
Y273C |
possibly damaging |
Het |
| Gli2 |
T |
A |
1: 118,764,021 (GRCm39) |
T1377S |
probably benign |
Het |
| Gm10271 |
T |
A |
10: 116,808,479 (GRCm39) |
L12F |
probably damaging |
Het |
| Grm5 |
G |
A |
7: 87,723,591 (GRCm39) |
G627D |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,724,848 (GRCm39) |
S295P |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Iqch |
T |
A |
9: 63,329,200 (GRCm39) |
M1045L |
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,411,931 (GRCm39) |
S455P |
possibly damaging |
Het |
| Kif26b |
G |
A |
1: 178,742,511 (GRCm39) |
G869E |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,799,792 (GRCm39) |
N508S |
probably benign |
Het |
| Lgals8 |
C |
T |
13: 12,469,777 (GRCm39) |
V61M |
probably damaging |
Het |
| Lztr1 |
T |
C |
16: 17,339,343 (GRCm39) |
V392A |
possibly damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,091,296 (GRCm39) |
M524L |
probably benign |
Het |
| Mob3b |
T |
C |
4: 34,986,101 (GRCm39) |
N146D |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,567,336 (GRCm39) |
T1728A |
unknown |
Het |
| Nlgn2 |
T |
C |
11: 69,718,855 (GRCm39) |
H278R |
probably damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,705,423 (GRCm39) |
M943V |
probably benign |
Het |
| Pramel25 |
T |
G |
4: 143,520,263 (GRCm39) |
L169R |
probably benign |
Het |
| Proser2 |
A |
G |
2: 6,106,015 (GRCm39) |
L183P |
probably benign |
Het |
| Prss36 |
T |
C |
7: 127,543,988 (GRCm39) |
I128V |
probably benign |
Het |
| Rabggta |
C |
T |
14: 55,956,745 (GRCm39) |
V320I |
probably benign |
Het |
| Sepsecs |
A |
G |
5: 52,823,344 (GRCm39) |
V125A |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,123,216 (GRCm39) |
P1005L |
probably benign |
Het |
| Slc22a20 |
A |
T |
19: 6,023,009 (GRCm39) |
I378N |
possibly damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Tap1 |
T |
C |
17: 34,412,277 (GRCm39) |
V494A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,570,310 (GRCm39) |
D1394G |
probably benign |
Het |
| Tgfbr3 |
T |
C |
5: 107,290,361 (GRCm39) |
T315A |
possibly damaging |
Het |
| Tph1 |
A |
G |
7: 46,311,529 (GRCm39) |
I71T |
probably benign |
Het |
| Trib3 |
A |
T |
2: 152,184,962 (GRCm39) |
C96S |
probably damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Trim56 |
A |
G |
5: 137,141,632 (GRCm39) |
V628A |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,776,210 (GRCm39) |
Y1718C |
probably damaging |
Het |
| Tuft1 |
T |
C |
3: 94,529,445 (GRCm39) |
Q244R |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,240,321 (GRCm39) |
T793A |
probably benign |
Het |
| Vmn1r39 |
A |
G |
6: 66,781,580 (GRCm39) |
I246T |
possibly damaging |
Het |
| Xpo1 |
T |
C |
11: 23,232,646 (GRCm39) |
S389P |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,347,168 (GRCm39) |
F1849S |
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 |
|
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 |
|
|
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'- GCAGGGAGATAGTTTTACTTGTTCC -3'
(R):5'- AAGTTCCAGGAAGTACAGAGCC -3'
Sequencing Primer
(F):5'- AGTTTTACTTGTTCCCATGGAAAC -3'
(R):5'- CAGGAAGTACAGAGCCTGCTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation