Incidental Mutation 'R6829:Trpm5'
| ID |
534298 |
| 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 |
044939-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6829 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 142623166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000037941]
[ENSMUST00000060433]
[ENSMUST00000105920]
[ENSMUST00000133410]
[ENSMUST00000137856]
[ENSMUST00000141954]
[ENSMUST00000147995]
[ENSMUST00000150867]
[ENSMUST00000177841]
[ENSMUST00000207448]
[ENSMUST00000208779]
|
| AlphaFold |
Q9JJH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009390
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141954
|
| 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: 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: ENSMUST00000207448
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208779
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,265,446 (GRCm39) |
|
probably null |
Het |
| Adamts5 |
A |
T |
16: 85,666,959 (GRCm39) |
M511K |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,125,018 (GRCm39) |
|
probably null |
Het |
| Cast |
T |
C |
13: 74,876,463 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ccdc198 |
A |
G |
14: 49,464,025 (GRCm39) |
*295Q |
probably null |
Het |
| Dcaf1 |
T |
A |
9: 106,715,803 (GRCm39) |
S307T |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Elac2 |
A |
G |
11: 64,880,190 (GRCm39) |
E111G |
probably benign |
Het |
| Fbxw4 |
A |
G |
19: 45,624,813 (GRCm39) |
F57S |
possibly damaging |
Het |
| Gm17655 |
T |
G |
5: 110,194,792 (GRCm39) |
H330P |
probably damaging |
Het |
| Gm2a |
T |
C |
11: 54,994,576 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
A |
3: 88,787,413 (GRCm39) |
D600E |
possibly damaging |
Het |
| Gsg1l2 |
T |
C |
11: 67,665,684 (GRCm39) |
I84T |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,323,241 (GRCm39) |
R652G |
probably benign |
Het |
| Il17rd |
C |
T |
14: 26,809,379 (GRCm39) |
R112* |
probably null |
Het |
| Jph1 |
C |
A |
1: 17,074,647 (GRCm39) |
R457L |
probably damaging |
Het |
| Khdrbs3 |
T |
C |
15: 68,964,810 (GRCm39) |
V249A |
possibly damaging |
Het |
| Mocs2 |
A |
G |
13: 114,955,980 (GRCm39) |
S43G |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,172,643 (GRCm39) |
L1190* |
probably null |
Het |
| Or2w1 |
T |
A |
13: 21,317,023 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or4f62 |
G |
C |
2: 111,986,139 (GRCm39) |
|
probably benign |
Het |
| Or5ac16 |
A |
G |
16: 59,021,898 (GRCm39) |
V297A |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,383,613 (GRCm39) |
L285* |
probably null |
Het |
| Pgc |
A |
T |
17: 48,043,706 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
G |
3: 63,604,939 (GRCm39) |
D1655A |
probably damaging |
Het |
| Pnliprp2 |
G |
A |
19: 58,748,305 (GRCm39) |
G29R |
probably benign |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,488 (GRCm39) |
I969T |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Sema7a |
A |
G |
9: 57,868,181 (GRCm39) |
E538G |
probably benign |
Het |
| Slc2a2 |
C |
T |
3: 28,781,590 (GRCm39) |
Q513* |
probably null |
Het |
| Slc4a8 |
A |
G |
15: 100,698,419 (GRCm39) |
Y636C |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,164,438 (GRCm39) |
D248G |
possibly damaging |
Het |
| Vmn1r14 |
T |
C |
6: 57,210,536 (GRCm39) |
L38P |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,396,380 (GRCm39) |
S397P |
probably damaging |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,414,540 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,676,915 (GRCm39) |
T2655M |
probably 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 |
|
|
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 |
|
R8441:Trpm5
|
UTSW |
7 |
142,626,171 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
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'- CCCTGGAGTATTGTGGGAAC -3'
(R):5'- GCAGCCTCTCTAGGTACAAG -3'
Sequencing Primer
(F):5'- CCTTTTTCGTCATTTCTGGGTG -3'
(R):5'- TCTCTAGGTACAAGCGCCAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation