Incidental Mutation 'R5413:Trpm5'
| ID |
427594 |
| 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 |
042982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142634705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 664
(I664N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000150867]
|
| AlphaFold |
Q9JJH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009390
AA Change: I664N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: I664N
| 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 |
probably damaging
Transcript: ENSMUST00000150867
AA Change: I664N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: I664N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,911,204 (GRCm39) |
T410S |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,856,626 (GRCm39) |
S316P |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,919,259 (GRCm39) |
L6F |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,777,307 (GRCm39) |
V98A |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,080,785 (GRCm39) |
N258S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,905,310 (GRCm39) |
D723G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,701,831 (GRCm39) |
W1751R |
probably damaging |
Het |
| Daam1 |
C |
A |
12: 71,993,066 (GRCm39) |
L352M |
unknown |
Het |
| Dennd2a |
A |
T |
6: 39,441,227 (GRCm39) |
F964I |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,002,104 (GRCm39) |
L1622P |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,289,700 (GRCm39) |
L195P |
probably damaging |
Het |
| Esp24 |
A |
C |
17: 39,350,893 (GRCm39) |
E31A |
possibly damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,545 (GRCm39) |
Y11* |
probably null |
Het |
| Fbxl16 |
C |
A |
17: 26,035,817 (GRCm39) |
T138K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,249,196 (GRCm39) |
I129V |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,108,620 (GRCm39) |
N241S |
probably benign |
Het |
| Homer1 |
A |
G |
13: 93,528,287 (GRCm39) |
E274G |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,084,797 (GRCm39) |
V189A |
possibly damaging |
Het |
| Igkv12-98 |
A |
G |
6: 68,548,078 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Igkv3-3 |
G |
C |
6: 70,664,414 (GRCm39) |
R85S |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,500,320 (GRCm39) |
T144A |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,423,936 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
| Or14c44 |
A |
G |
7: 86,061,675 (GRCm39) |
Y35C |
probably benign |
Het |
| Or2n1d |
G |
T |
17: 38,646,515 (GRCm39) |
A156S |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,209,240 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,635 (GRCm39) |
V16E |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,961,855 (GRCm39) |
Y551H |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,096,040 (GRCm39) |
M249T |
possibly damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,538,620 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
G |
A |
5: 128,820,944 (GRCm39) |
V290I |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,298,638 (GRCm39) |
D444V |
possibly damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,995,173 (GRCm39) |
D677G |
probably damaging |
Het |
| Tmem59 |
A |
G |
4: 107,057,659 (GRCm39) |
E237G |
probably benign |
Het |
| Unc13b |
G |
A |
4: 43,257,936 (GRCm39) |
|
probably null |
Het |
| Usp17lc |
C |
A |
7: 103,067,763 (GRCm39) |
Q353K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,568,252 (GRCm39) |
V547M |
probably damaging |
Het |
| Vdac1 |
G |
T |
11: 52,265,794 (GRCm39) |
L52F |
probably null |
Het |
| Vmn2r14 |
T |
A |
5: 109,369,154 (GRCm39) |
I140L |
probably benign |
Het |
| Wnt3a |
A |
G |
11: 59,166,182 (GRCm39) |
S33P |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,281,710 (GRCm39) |
Y300N |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,075,892 (GRCm39) |
|
probably null |
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 |
|
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'- CCATATCCAAGCTGTCTGGC -3'
(R):5'- GGGTATCTCAGGCACACATC -3'
Sequencing Primer
(F):5'- GGCTCCTGCAGATCTTCTAGG -3'
(R):5'- TCCCTACATGAGATAAAGTGTGGTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation