Incidental Mutation 'R2009:Trpm5'
ID |
219365 |
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 |
040018-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R2009 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 142641475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 145
(I145T)
|
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: I145T
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000009390 Gene: ENSMUSG00000009246 AA Change: I145T
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: ENSMUST00000146075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150589
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150867
AA Change: I145T
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114302 Gene: ENSMUSG00000009246 AA Change: I145T
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (47/47) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
T |
A |
9: 30,833,433 (GRCm39) |
D34V |
probably benign |
Het |
Adgrf1 |
A |
T |
17: 43,632,112 (GRCm39) |
R884* |
probably null |
Het |
Adgrg7 |
T |
C |
16: 56,582,236 (GRCm39) |
T301A |
probably benign |
Het |
Arhgef17 |
A |
G |
7: 100,530,988 (GRCm39) |
I1366T |
probably damaging |
Het |
C1s2 |
A |
T |
6: 124,612,048 (GRCm39) |
L112H |
probably damaging |
Het |
C2cd6 |
A |
T |
1: 59,042,391 (GRCm39) |
|
noncoding transcript |
Het |
Cfap74 |
G |
A |
4: 155,504,724 (GRCm39) |
R103H |
possibly damaging |
Het |
Col7a1 |
A |
T |
9: 108,797,943 (GRCm39) |
|
probably null |
Het |
Dmp1 |
A |
G |
5: 104,360,706 (GRCm39) |
S461G |
probably damaging |
Het |
Eif4g2 |
A |
T |
7: 110,673,405 (GRCm39) |
D753E |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Etv4 |
T |
C |
11: 101,665,063 (GRCm39) |
D130G |
probably damaging |
Het |
Gabbr2 |
A |
T |
4: 46,734,119 (GRCm39) |
I533N |
probably damaging |
Het |
Gne |
T |
C |
4: 44,055,273 (GRCm39) |
E234G |
probably benign |
Het |
Itga6 |
C |
A |
2: 71,647,025 (GRCm39) |
N78K |
probably benign |
Het |
Lap3 |
C |
T |
5: 45,650,899 (GRCm39) |
T33M |
probably benign |
Het |
Limd1 |
A |
G |
9: 123,308,564 (GRCm39) |
S88G |
probably benign |
Het |
Lrp1 |
G |
T |
10: 127,380,385 (GRCm39) |
T3922K |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,971,517 (GRCm39) |
|
probably benign |
Het |
Mib1 |
T |
C |
18: 10,812,118 (GRCm39) |
L263S |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,216,427 (GRCm39) |
S1474G |
probably benign |
Het |
Nkapl |
A |
C |
13: 21,651,607 (GRCm39) |
S335R |
probably damaging |
Het |
Nrg3 |
A |
G |
14: 38,092,771 (GRCm39) |
S605P |
probably damaging |
Het |
Or10x4 |
G |
T |
1: 174,218,995 (GRCm39) |
R120L |
possibly damaging |
Het |
Or52b3 |
A |
G |
7: 102,204,151 (GRCm39) |
Y220C |
probably damaging |
Het |
Patj |
G |
A |
4: 98,344,406 (GRCm39) |
D577N |
probably damaging |
Het |
Pfpl |
A |
C |
19: 12,407,319 (GRCm39) |
K523N |
possibly damaging |
Het |
Pik3c2a |
A |
C |
7: 115,963,738 (GRCm39) |
L924R |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,144,403 (GRCm39) |
R278L |
probably benign |
Het |
Prss2 |
A |
T |
6: 41,500,910 (GRCm39) |
I108F |
probably damaging |
Het |
Rnase2b |
A |
G |
14: 51,400,347 (GRCm39) |
T143A |
possibly damaging |
Het |
Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
Sphk2 |
A |
T |
7: 45,360,437 (GRCm39) |
H522Q |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,235,261 (GRCm39) |
|
probably null |
Het |
Tmem88 |
C |
A |
11: 69,288,602 (GRCm39) |
A106S |
probably damaging |
Het |
Trappc14 |
C |
A |
5: 138,259,191 (GRCm39) |
C434F |
probably damaging |
Het |
Trim39 |
A |
G |
17: 36,574,646 (GRCm39) |
L252S |
possibly damaging |
Het |
Trim60 |
T |
A |
8: 65,453,975 (GRCm39) |
E91D |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,595,729 (GRCm39) |
M761L |
probably benign |
Het |
Wdr4 |
G |
A |
17: 31,719,584 (GRCm39) |
|
probably benign |
Het |
Wfs1 |
A |
T |
5: 37,125,653 (GRCm39) |
S413T |
probably damaging |
Het |
Wnt2 |
A |
T |
6: 18,030,208 (GRCm39) |
W27R |
probably damaging |
Het |
Zc3h3 |
A |
T |
15: 75,651,158 (GRCm39) |
H687Q |
probably damaging |
Het |
Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
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 |
|
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 |
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'- AGTTTTGGGCCCATGGAAC -3'
(R):5'- ACTTGATTCCCTGGTCAGCC -3'
Sequencing Primer
(F):5'- TGGAACCCACATCTTCCCACTG -3'
(R):5'- TCAGCCAGCTGTGAGGACTC -3'
|
Posted On |
2014-08-25 |