Incidental Mutation 'R8441:Trpm5'
ID |
654210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trpm5
|
Ensembl Gene |
ENSMUSG00000009246 |
Gene Name |
transient receptor potential cation channel, subfamily M, member 5 |
Synonyms |
Ltrpc5, 9430099A16Rik, Mtr1 |
MMRRC Submission |
067885-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R8441 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 142626171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1131
(S1131P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000037941]
[ENSMUST00000060433]
[ENSMUST00000105920]
[ENSMUST00000133410]
[ENSMUST00000137856]
[ENSMUST00000147995]
[ENSMUST00000150867]
[ENSMUST00000177841]
[ENSMUST00000208779]
|
AlphaFold |
Q9JJH7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009390
AA Change: S1131P
PolyPhen 2
Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000009390 Gene: ENSMUSG00000009246 AA Change: S1131P
Domain | Start | End | E-Value | Type |
Blast:ANK
|
382 |
411 |
2e-6 |
BLAST |
transmembrane domain
|
644 |
666 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
736 |
989 |
1.2e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037941
|
SMART Domains |
Protein: ENSMUSP00000043768 Gene: ENSMUSG00000037706
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
9 |
230 |
9.1e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060433
|
SMART Domains |
Protein: ENSMUSP00000056582 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
91 |
207 |
3.9e-43 |
PFAM |
low complexity region
|
232 |
250 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105920
|
SMART Domains |
Protein: ENSMUSP00000101540 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133410
|
SMART Domains |
Protein: ENSMUSP00000123499 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
low complexity region
|
85 |
106 |
N/A |
INTRINSIC |
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
159 |
266 |
5.2e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136602
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137856
|
SMART Domains |
Protein: ENSMUSP00000123353 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
90 |
209 |
1.6e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147995
|
SMART Domains |
Protein: ENSMUSP00000122335 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
90 |
196 |
4.8e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148715
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150867
|
SMART Domains |
Protein: ENSMUSP00000114302 Gene: ENSMUSG00000009246
Domain | Start | End | E-Value | Type |
Blast:ANK
|
382 |
411 |
2e-6 |
BLAST |
transmembrane domain
|
644 |
666 |
N/A |
INTRINSIC |
transmembrane domain
|
731 |
753 |
N/A |
INTRINSIC |
transmembrane domain
|
811 |
833 |
N/A |
INTRINSIC |
transmembrane domain
|
872 |
894 |
N/A |
INTRINSIC |
transmembrane domain
|
952 |
974 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177841
|
SMART Domains |
Protein: ENSMUSP00000137399 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
90 |
210 |
1.7e-34 |
PFAM |
low complexity region
|
232 |
250 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208779
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010] PHENOTYPE: Homozygous mutant mice demonstrate abnormal taste perception, responding to sour and salty stimuli but not to sweet, or bitter stimuli. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
G |
2: 69,087,574 (GRCm39) |
Y1064H |
possibly damaging |
Het |
Ahrr |
T |
C |
13: 74,362,182 (GRCm39) |
D567G |
probably benign |
Het |
Aldh1b1 |
T |
A |
4: 45,802,465 (GRCm39) |
M1K |
probably null |
Het |
Ankrd12 |
A |
T |
17: 66,349,546 (GRCm39) |
S96T |
probably benign |
Het |
Arhgef10 |
A |
T |
8: 15,041,237 (GRCm39) |
|
probably benign |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Cmpk2 |
G |
A |
12: 26,527,204 (GRCm39) |
A398T |
probably benign |
Het |
Cpn2 |
A |
G |
16: 30,078,849 (GRCm39) |
L284P |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,432,658 (GRCm39) |
D1221G |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,572,398 (GRCm39) |
K957R |
probably damaging |
Het |
Eif1ad2 |
T |
G |
12: 87,786,384 (GRCm39) |
D98E |
probably benign |
Het |
Flnb |
T |
A |
14: 7,896,488 (GRCm38) |
V893E |
probably benign |
Het |
Flrt3 |
C |
A |
2: 140,502,546 (GRCm39) |
V361L |
probably benign |
Het |
Fnta |
G |
A |
8: 26,501,209 (GRCm39) |
R104* |
probably null |
Het |
Ggt1 |
C |
T |
10: 75,415,185 (GRCm39) |
T233I |
possibly damaging |
Het |
Gpr37l1 |
A |
T |
1: 135,094,875 (GRCm39) |
V123E |
probably damaging |
Het |
Grpel1 |
A |
G |
5: 36,622,556 (GRCm39) |
R7G |
probably benign |
Het |
H2-M10.5 |
A |
T |
17: 37,084,199 (GRCm39) |
I54L |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,139,474 (GRCm39) |
|
probably benign |
Het |
Mcm3 |
T |
C |
1: 20,884,690 (GRCm39) |
D271G |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,422,265 (GRCm39) |
V1256A |
possibly damaging |
Het |
Nipbl |
A |
G |
15: 8,322,599 (GRCm39) |
V2604A |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,073,204 (GRCm39) |
D213V |
probably damaging |
Het |
Npbwr1 |
G |
A |
1: 5,987,397 (GRCm39) |
A39V |
possibly damaging |
Het |
Nr6a1 |
T |
C |
2: 38,632,888 (GRCm39) |
D191G |
probably benign |
Het |
Olfml1 |
T |
G |
7: 107,166,977 (GRCm39) |
V2G |
probably benign |
Het |
Or4k38 |
A |
T |
2: 111,166,131 (GRCm39) |
Y97* |
probably null |
Het |
Or5b105 |
T |
A |
19: 13,080,020 (GRCm39) |
Y216F |
probably damaging |
Het |
Otof |
T |
C |
5: 30,538,200 (GRCm39) |
K1175E |
probably damaging |
Het |
Pira13 |
C |
A |
7: 3,826,301 (GRCm39) |
E231* |
probably null |
Het |
Plekhg2 |
C |
T |
7: 28,060,291 (GRCm39) |
V989I |
probably benign |
Het |
Prkcq |
A |
G |
2: 11,253,037 (GRCm39) |
D229G |
probably benign |
Het |
Ptprf |
A |
T |
4: 118,075,255 (GRCm39) |
|
probably benign |
Het |
Rest |
G |
T |
5: 77,429,766 (GRCm39) |
Q728H |
possibly damaging |
Het |
Scube1 |
A |
T |
15: 83,494,423 (GRCm39) |
I868N |
probably damaging |
Het |
Spcs3 |
A |
G |
8: 54,981,375 (GRCm39) |
|
probably null |
Het |
Speg |
A |
G |
1: 75,387,976 (GRCm39) |
S1445G |
possibly damaging |
Het |
Spmap2 |
C |
A |
10: 79,412,510 (GRCm39) |
R327L |
probably damaging |
Het |
Tmem145 |
T |
C |
7: 25,008,200 (GRCm39) |
F261S |
possibly damaging |
Het |
Trav9d-4 |
A |
G |
14: 53,221,284 (GRCm39) |
S93G |
probably benign |
Het |
Trbv5 |
T |
A |
6: 41,039,517 (GRCm39) |
C41S |
probably damaging |
Het |
Ttc28 |
C |
T |
5: 111,325,507 (GRCm39) |
R313* |
probably null |
Het |
Ubap2l |
T |
C |
3: 89,920,007 (GRCm39) |
T853A |
unknown |
Het |
Xirp2 |
T |
C |
2: 67,343,159 (GRCm39) |
V1800A |
possibly damaging |
Het |
Zfhx2 |
A |
G |
14: 55,303,985 (GRCm39) |
L1333P |
possibly damaging |
Het |
|
Other mutations in Trpm5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00309:Trpm5
|
APN |
7 |
142,636,728 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00717:Trpm5
|
APN |
7 |
142,627,727 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01138:Trpm5
|
APN |
7 |
142,628,306 (GRCm39) |
missense |
probably benign |
|
IGL01590:Trpm5
|
APN |
7 |
142,636,471 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01603:Trpm5
|
APN |
7 |
142,629,338 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01685:Trpm5
|
APN |
7 |
142,636,091 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01878:Trpm5
|
APN |
7 |
142,628,234 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02533:Trpm5
|
APN |
7 |
142,643,282 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02572:Trpm5
|
APN |
7 |
142,641,613 (GRCm39) |
splice site |
probably benign |
|
IGL02750:Trpm5
|
APN |
7 |
142,628,221 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02862:Trpm5
|
APN |
7 |
142,636,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R0032:Trpm5
|
UTSW |
7 |
142,638,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Trpm5
|
UTSW |
7 |
142,636,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Trpm5
|
UTSW |
7 |
142,636,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0239:Trpm5
|
UTSW |
7 |
142,636,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0239:Trpm5
|
UTSW |
7 |
142,636,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0334:Trpm5
|
UTSW |
7 |
142,640,613 (GRCm39) |
missense |
probably benign |
0.06 |
R0799:Trpm5
|
UTSW |
7 |
142,632,088 (GRCm39) |
missense |
probably damaging |
0.99 |
R1187:Trpm5
|
UTSW |
7 |
142,628,206 (GRCm39) |
missense |
probably damaging |
0.96 |
R1373:Trpm5
|
UTSW |
7 |
142,640,579 (GRCm39) |
splice site |
probably benign |
|
R1521:Trpm5
|
UTSW |
7 |
142,636,626 (GRCm39) |
missense |
probably benign |
0.00 |
R1603:Trpm5
|
UTSW |
7 |
142,638,946 (GRCm39) |
missense |
probably benign |
0.00 |
R1606:Trpm5
|
UTSW |
7 |
142,638,908 (GRCm39) |
nonsense |
probably null |
|
R2009:Trpm5
|
UTSW |
7 |
142,641,475 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2437:Trpm5
|
UTSW |
7 |
142,636,298 (GRCm39) |
missense |
probably benign |
0.03 |
R2508:Trpm5
|
UTSW |
7 |
142,642,656 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2516:Trpm5
|
UTSW |
7 |
142,628,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R2985:Trpm5
|
UTSW |
7 |
142,636,675 (GRCm39) |
missense |
probably damaging |
0.99 |
R3036:Trpm5
|
UTSW |
7 |
142,639,200 (GRCm39) |
missense |
probably benign |
0.00 |
R3037:Trpm5
|
UTSW |
7 |
142,639,200 (GRCm39) |
missense |
probably benign |
0.00 |
R3688:Trpm5
|
UTSW |
7 |
142,632,193 (GRCm39) |
missense |
probably damaging |
0.98 |
R4156:Trpm5
|
UTSW |
7 |
142,642,792 (GRCm39) |
missense |
probably benign |
0.04 |
R4734:Trpm5
|
UTSW |
7 |
142,636,522 (GRCm39) |
missense |
probably benign |
0.04 |
R4811:Trpm5
|
UTSW |
7 |
142,633,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R4814:Trpm5
|
UTSW |
7 |
142,636,373 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4847:Trpm5
|
UTSW |
7 |
142,641,500 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5055:Trpm5
|
UTSW |
7 |
142,626,521 (GRCm39) |
missense |
probably benign |
0.00 |
R5256:Trpm5
|
UTSW |
7 |
142,636,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R5413:Trpm5
|
UTSW |
7 |
142,634,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R5668:Trpm5
|
UTSW |
7 |
142,626,966 (GRCm39) |
missense |
probably benign |
0.39 |
R6133:Trpm5
|
UTSW |
7 |
142,642,688 (GRCm39) |
missense |
probably damaging |
0.98 |
R6242:Trpm5
|
UTSW |
7 |
142,626,919 (GRCm39) |
missense |
probably benign |
|
R6564:Trpm5
|
UTSW |
7 |
142,626,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R6702:Trpm5
|
UTSW |
7 |
142,623,055 (GRCm39) |
unclassified |
probably benign |
|
R6703:Trpm5
|
UTSW |
7 |
142,623,055 (GRCm39) |
unclassified |
probably benign |
|
R6829:Trpm5
|
UTSW |
7 |
142,623,166 (GRCm39) |
unclassified |
probably benign |
|
R6940:Trpm5
|
UTSW |
7 |
142,638,547 (GRCm39) |
nonsense |
probably null |
|
R7337:Trpm5
|
UTSW |
7 |
142,642,756 (GRCm39) |
missense |
probably benign |
0.01 |
R7513:Trpm5
|
UTSW |
7 |
142,635,572 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7560:Trpm5
|
UTSW |
7 |
142,634,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R7801:Trpm5
|
UTSW |
7 |
142,638,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R7961:Trpm5
|
UTSW |
7 |
142,634,106 (GRCm39) |
missense |
probably benign |
0.00 |
R8009:Trpm5
|
UTSW |
7 |
142,634,106 (GRCm39) |
missense |
probably benign |
0.00 |
R8189:Trpm5
|
UTSW |
7 |
142,635,575 (GRCm39) |
missense |
probably benign |
0.32 |
R8507:Trpm5
|
UTSW |
7 |
142,632,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R8825:Trpm5
|
UTSW |
7 |
142,636,753 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9443:Trpm5
|
UTSW |
7 |
142,638,860 (GRCm39) |
missense |
probably benign |
|
R9577:Trpm5
|
UTSW |
7 |
142,633,131 (GRCm39) |
critical splice donor site |
probably null |
|
R9608:Trpm5
|
UTSW |
7 |
142,633,148 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9647:Trpm5
|
UTSW |
7 |
142,634,498 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0022:Trpm5
|
UTSW |
7 |
142,636,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCAAGAAGTGATCTGTAGC -3'
(R):5'- TTCTCCACCTGTGCTAGAGGTC -3'
Sequencing Primer
(F):5'- GTAGCAAGGCCTTGAAGACCATTTC -3'
(R):5'- CACCTGTGCTAGAGGTCGGTTAC -3'
|
Posted On |
2020-10-20 |