Incidental Mutation 'R4814:Trpm5'
| ID |
369642 |
| 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 |
042432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R4814 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142636373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 500
(P500S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000150867]
|
| AlphaFold |
Q9JJH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009390
AA Change: P500S
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: P500S
| 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 |
noncoding transcript
Transcript: ENSMUST00000133027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146075
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150589
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150867
AA Change: P500S
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: P500S
| 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 |
|
| Meta Mutation Damage Score |
0.1051 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
G |
16: 56,471,116 (GRCm39) |
V587G |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,547,632 (GRCm39) |
D1002G |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,254,687 (GRCm39) |
I385L |
probably benign |
Het |
| Adra1a |
C |
G |
14: 66,875,481 (GRCm39) |
A152G |
probably benign |
Het |
| Agbl4 |
A |
T |
4: 111,513,565 (GRCm39) |
Y437F |
possibly damaging |
Het |
| Amt |
A |
G |
9: 108,176,979 (GRCm39) |
T196A |
probably benign |
Het |
| Apobr |
G |
A |
7: 126,185,859 (GRCm39) |
V457M |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,956,667 (GRCm39) |
K3563E |
probably damaging |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Chrna9 |
T |
C |
5: 66,134,492 (GRCm39) |
W448R |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,427,466 (GRCm39) |
D224V |
probably damaging |
Het |
| Ddx10 |
C |
A |
9: 53,115,405 (GRCm39) |
R643L |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,586,896 (GRCm39) |
H200R |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,986,898 (GRCm39) |
R3182S |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Egfr |
T |
C |
11: 16,819,354 (GRCm39) |
C295R |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,281,173 (GRCm39) |
N394K |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,915,322 (GRCm39) |
|
probably null |
Het |
| Gckr |
C |
T |
5: 31,455,644 (GRCm39) |
Q66* |
probably null |
Het |
| Gm26996 |
A |
T |
6: 130,556,317 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9386 |
C |
A |
17: 81,246,141 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr6 |
A |
T |
10: 40,947,258 (GRCm39) |
M108K |
possibly damaging |
Het |
| H2-Q10 |
A |
C |
17: 35,784,481 (GRCm39) |
|
probably benign |
Het |
| Hpf1 |
A |
G |
8: 61,346,841 (GRCm39) |
D52G |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,279,377 (GRCm39) |
R989G |
probably damaging |
Het |
| Kat7 |
A |
G |
11: 95,193,949 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
G |
T |
3: 89,570,031 (GRCm39) |
V615F |
probably damaging |
Het |
| Lgi1 |
G |
T |
19: 38,289,326 (GRCm39) |
|
probably null |
Het |
| Lrrtm4 |
A |
T |
6: 80,000,117 (GRCm39) |
T510S |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,128,114 (GRCm39) |
|
probably null |
Het |
| Mapt |
T |
C |
11: 104,189,786 (GRCm39) |
V252A |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,826,260 (GRCm39) |
S223T |
possibly damaging |
Het |
| Meig1 |
T |
A |
2: 3,412,959 (GRCm39) |
I21L |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,113,684 (GRCm39) |
Y447H |
probably damaging |
Het |
| Mrpl46 |
A |
C |
7: 78,430,343 (GRCm39) |
N142K |
probably benign |
Het |
| Myo18a |
C |
A |
11: 77,750,062 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
| Oas1h |
C |
A |
5: 121,000,728 (GRCm39) |
H113N |
probably damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,245 (GRCm39) |
T203S |
possibly damaging |
Het |
| Or7g18 |
A |
G |
9: 18,787,213 (GRCm39) |
I197V |
probably benign |
Het |
| Or7g27 |
C |
T |
9: 19,250,476 (GRCm39) |
T240M |
probably damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,817 (GRCm39) |
L144F |
possibly damaging |
Het |
| Orc3 |
T |
A |
4: 34,572,450 (GRCm39) |
|
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,329,980 (GRCm39) |
L65F |
probably damaging |
Het |
| Papola |
C |
A |
12: 105,765,912 (GRCm39) |
P4Q |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,645,022 (GRCm39) |
N151S |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,355,150 (GRCm39) |
L959P |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,080,032 (GRCm39) |
H82Q |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,768,923 (GRCm39) |
T496M |
probably benign |
Het |
| Samd9l |
T |
G |
6: 3,372,863 (GRCm39) |
Q1466P |
probably damaging |
Het |
| Serpina1a |
T |
C |
12: 103,821,022 (GRCm39) |
T342A |
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,231,470 (GRCm39) |
T36A |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Slc35g1 |
A |
G |
19: 38,391,275 (GRCm39) |
S186G |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,350,899 (GRCm39) |
D126E |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,718,763 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
C |
A |
10: 57,687,337 (GRCm39) |
T355K |
probably damaging |
Het |
| Sntg2 |
A |
G |
12: 30,423,267 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,284 (GRCm39) |
M152L |
probably benign |
Het |
| Spats2l |
G |
T |
1: 57,977,085 (GRCm39) |
A308S |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,777,323 (GRCm39) |
|
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,912,504 (GRCm39) |
C478* |
probably null |
Het |
| Tekt5 |
A |
G |
16: 10,200,771 (GRCm39) |
L250P |
probably damaging |
Het |
| Tmem132d |
T |
G |
5: 128,061,328 (GRCm39) |
I425L |
probably benign |
Het |
| Tmem174 |
T |
A |
13: 98,773,456 (GRCm39) |
I125F |
probably damaging |
Het |
| Trafd1 |
T |
G |
5: 121,512,079 (GRCm39) |
I404L |
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,839,576 (GRCm39) |
N1616K |
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,715 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,567 (GRCm39) |
I706F |
probably benign |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zfp982 |
A |
G |
4: 147,597,090 (GRCm39) |
Q149R |
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 |
|
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 |
|
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'- AGTCTGCCTCTTGAGATGCTC -3'
(R):5'- TTTGAACTGCTGCAGCGTAAG -3'
Sequencing Primer
(F):5'- TGCTCAAGGAAGCCGTG -3'
(R):5'- AGCTGCCCATTGGTCTGC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation