Incidental Mutation 'R6703:Trpm5'
ID |
528286 |
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 |
044821-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R6703 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 142623055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146914
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000037941]
[ENSMUST00000060433]
[ENSMUST00000105920]
[ENSMUST00000141954]
[ENSMUST00000177841]
[ENSMUST00000147995]
[ENSMUST00000150867]
[ENSMUST00000207448]
[ENSMUST00000133410]
[ENSMUST00000137856]
[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 |
noncoding transcript
Transcript: ENSMUST00000126776
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128762
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148715
AA Change: R187L
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141954
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136602
|
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 |
noncoding transcript
Transcript: ENSMUST00000150589
|
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 |
noncoding transcript
Transcript: ENSMUST00000146075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207448
|
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: 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: ENSMUST00000208779
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207776
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208278
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
Validation Efficiency |
99% (73/74) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
T |
A |
10: 21,497,558 (GRCm39) |
Y66* |
probably null |
Het |
Akap13 |
T |
C |
7: 75,252,646 (GRCm39) |
S259P |
probably damaging |
Het |
Aoc1 |
A |
C |
6: 48,882,648 (GRCm39) |
T197P |
probably damaging |
Het |
Blnk |
A |
T |
19: 40,950,950 (GRCm39) |
|
probably null |
Het |
Ccser1 |
A |
T |
6: 61,615,495 (GRCm39) |
K94* |
probably null |
Het |
Cfap54 |
T |
A |
10: 92,704,596 (GRCm39) |
D2828V |
unknown |
Het |
Clec4n |
A |
G |
6: 123,212,553 (GRCm39) |
Q89R |
probably null |
Het |
Col6a3 |
T |
C |
1: 90,707,161 (GRCm39) |
D1984G |
unknown |
Het |
Col6a3 |
C |
T |
1: 90,720,184 (GRCm39) |
R1552Q |
probably benign |
Het |
Csnk2a1 |
A |
G |
2: 152,100,608 (GRCm39) |
T93A |
probably benign |
Het |
Dna2 |
T |
A |
10: 62,809,073 (GRCm39) |
I1055N |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 162,146,256 (GRCm39) |
F296L |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,834,909 (GRCm39) |
E1822G |
probably damaging |
Het |
Dpyd |
A |
T |
3: 118,690,849 (GRCm39) |
|
probably null |
Het |
Dyrk4 |
A |
T |
6: 126,867,045 (GRCm39) |
I329N |
probably damaging |
Het |
E4f1 |
C |
A |
17: 24,666,105 (GRCm39) |
R231L |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,406,083 (GRCm39) |
T945A |
probably benign |
Het |
Fkbp7 |
A |
T |
2: 76,502,106 (GRCm39) |
M99K |
probably damaging |
Het |
Flad1 |
T |
C |
3: 89,315,897 (GRCm39) |
S222G |
probably benign |
Het |
H1f7 |
C |
A |
15: 98,155,153 (GRCm39) |
|
probably benign |
Het |
Ighg2b |
T |
C |
12: 113,268,653 (GRCm39) |
|
probably benign |
Het |
Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
Itln1 |
C |
T |
1: 171,358,151 (GRCm39) |
C199Y |
probably damaging |
Het |
Kctd3 |
G |
A |
1: 188,728,726 (GRCm39) |
R137C |
probably damaging |
Het |
Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
Larp7 |
C |
T |
3: 127,337,873 (GRCm39) |
M395I |
probably damaging |
Het |
Lpcat3 |
C |
T |
6: 124,640,185 (GRCm39) |
A5V |
probably benign |
Het |
Lrrc43 |
C |
T |
5: 123,637,532 (GRCm39) |
T233M |
possibly damaging |
Het |
Map4k1 |
T |
G |
7: 28,701,821 (GRCm39) |
S803A |
possibly damaging |
Het |
Mef2c |
T |
A |
13: 83,773,525 (GRCm39) |
C134S |
possibly damaging |
Het |
Mgst2 |
T |
C |
3: 51,572,033 (GRCm39) |
|
probably null |
Het |
Mug2 |
T |
G |
6: 122,055,653 (GRCm39) |
I1112R |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,383,818 (GRCm39) |
I1622V |
probably benign |
Het |
Ndor1 |
A |
G |
2: 25,139,902 (GRCm39) |
F142S |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,284,205 (GRCm39) |
S160P |
probably damaging |
Het |
Nudt16l2 |
T |
C |
9: 105,021,758 (GRCm39) |
Y96C |
possibly damaging |
Het |
Nynrin |
A |
G |
14: 56,101,935 (GRCm39) |
T535A |
possibly damaging |
Het |
Or2m13 |
T |
C |
16: 19,226,122 (GRCm39) |
I215V |
probably benign |
Het |
Or4k15 |
A |
G |
14: 50,364,688 (GRCm39) |
Y218C |
probably damaging |
Het |
Or4k42 |
T |
A |
2: 111,320,454 (GRCm39) |
|
probably null |
Het |
Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
Pcdh10 |
G |
A |
3: 45,335,734 (GRCm39) |
V683M |
possibly damaging |
Het |
Per2 |
C |
T |
1: 91,355,671 (GRCm39) |
E696K |
probably damaging |
Het |
Pif1 |
T |
C |
9: 65,500,545 (GRCm39) |
V490A |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,309,250 (GRCm39) |
Y219N |
probably benign |
Het |
Ppl |
T |
G |
16: 4,907,328 (GRCm39) |
E989A |
probably damaging |
Het |
Prkdc |
T |
G |
16: 15,488,392 (GRCm39) |
S505A |
probably benign |
Het |
Psg16 |
T |
C |
7: 16,824,321 (GRCm39) |
L35P |
probably damaging |
Het |
Ptges |
A |
G |
2: 30,793,133 (GRCm39) |
V33A |
possibly damaging |
Het |
Qser1 |
G |
A |
2: 104,607,670 (GRCm39) |
T1416I |
possibly damaging |
Het |
Rab3a |
A |
G |
8: 71,209,095 (GRCm39) |
D77G |
probably damaging |
Het |
Rtn3 |
A |
T |
19: 7,412,410 (GRCm39) |
V788D |
probably damaging |
Het |
Rtn4r |
T |
C |
16: 17,969,055 (GRCm39) |
L161P |
probably damaging |
Het |
Rtn4rl1 |
G |
A |
11: 75,156,354 (GRCm39) |
R262Q |
probably benign |
Het |
S1pr3 |
A |
T |
13: 51,573,475 (GRCm39) |
I219F |
probably damaging |
Het |
Sec23b |
A |
T |
2: 144,401,109 (GRCm39) |
|
probably null |
Het |
Senp6 |
A |
G |
9: 80,029,203 (GRCm39) |
E522G |
probably damaging |
Het |
Slc27a6 |
A |
G |
18: 58,742,911 (GRCm39) |
N533S |
probably benign |
Het |
Slc39a5 |
T |
A |
10: 128,233,651 (GRCm39) |
D282V |
probably damaging |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Snx14 |
A |
G |
9: 88,304,967 (GRCm39) |
I109T |
probably damaging |
Het |
Sorl1 |
A |
T |
9: 41,982,497 (GRCm39) |
V361E |
probably damaging |
Het |
Sox5 |
G |
T |
6: 143,779,191 (GRCm39) |
S648R |
probably damaging |
Het |
Sptbn2 |
G |
A |
19: 4,799,842 (GRCm39) |
S2161N |
probably benign |
Het |
Sptbn2 |
C |
A |
19: 4,799,843 (GRCm39) |
S2161R |
probably benign |
Het |
St6galnac2 |
A |
G |
11: 116,575,213 (GRCm39) |
S209P |
probably benign |
Het |
Tmub1 |
T |
C |
5: 24,651,944 (GRCm39) |
S7G |
probably benign |
Het |
Trarg1 |
A |
T |
11: 76,584,988 (GRCm39) |
|
probably null |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp438 |
A |
G |
18: 5,214,044 (GRCm39) |
S305P |
probably benign |
Het |
Zfp780b |
T |
C |
7: 27,671,066 (GRCm39) |
T81A |
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 |
|
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 |
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'- AAACTGGTTGGCGCTCACAG -3'
(R):5'- GTACACGCCTCAATACCCTG -3'
Sequencing Primer
(F):5'- TCACAGTGCGTGGTGAC -3'
(R):5'- TGCCGCCTTTCTCGCAG -3'
|
Posted On |
2018-07-24 |