Incidental Mutation 'R4734:Trpm5'
| ID |
359162 |
| 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 |
041961-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4734 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 142636522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 472
(V472L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000150867]
|
| AlphaFold |
Q9JJH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009390
AA Change: V472L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: V472L
| 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 benign
Transcript: ENSMUST00000150867
AA Change: V472L
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: V472L
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,603,961 (GRCm39) |
M1V |
probably null |
Het |
| Abcb11 |
T |
A |
2: 69,154,306 (GRCm39) |
T87S |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,129,328 (GRCm39) |
V210A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,713,479 (GRCm39) |
S246P |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,432,720 (GRCm39) |
K222R |
probably benign |
Het |
| Cdhr18 |
T |
C |
14: 13,845,292 (GRCm38) |
N540S |
probably benign |
Het |
| Cfap96 |
A |
T |
8: 46,423,454 (GRCm39) |
M86K |
possibly damaging |
Het |
| Chsy3 |
C |
A |
18: 59,312,485 (GRCm39) |
F319L |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,333,860 (GRCm39) |
T345A |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,317,876 (GRCm39) |
V216A |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,060,778 (GRCm39) |
I213V |
probably benign |
Het |
| Dcaf15 |
A |
G |
8: 84,824,357 (GRCm39) |
C586R |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,825,657 (GRCm39) |
E314D |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,495,543 (GRCm39) |
R1196H |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,724,941 (GRCm39) |
A4404V |
probably damaging |
Het |
| Dpf2 |
A |
G |
19: 5,957,027 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
A |
T |
2: 118,252,568 (GRCm39) |
H302L |
probably damaging |
Het |
| Eif2d |
G |
T |
1: 131,092,889 (GRCm39) |
R399L |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,202,294 (GRCm39) |
V260A |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,161,192 (GRCm39) |
Y575N |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,521,244 (GRCm39) |
E74G |
possibly damaging |
Het |
| Gdpd2 |
G |
A |
X: 99,777,799 (GRCm39) |
M243I |
possibly damaging |
Het |
| Glra1 |
C |
A |
11: 55,427,210 (GRCm39) |
D42Y |
probably damaging |
Het |
| Gnl2 |
T |
C |
4: 124,934,811 (GRCm39) |
F156L |
probably benign |
Het |
| Gpr37 |
C |
A |
6: 25,689,085 (GRCm39) |
R4L |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,480,040 (GRCm39) |
H2892L |
possibly damaging |
Het |
| Helb |
T |
C |
10: 119,920,754 (GRCm39) |
D1063G |
probably benign |
Het |
| Htr2c |
A |
G |
X: 145,976,793 (GRCm39) |
T163A |
probably benign |
Het |
| Impact |
T |
A |
18: 13,118,346 (GRCm39) |
H188Q |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lnx2 |
C |
T |
5: 146,965,947 (GRCm39) |
G391R |
probably damaging |
Het |
| Lrrc19 |
T |
C |
4: 94,526,586 (GRCm39) |
I324V |
probably benign |
Het |
| Lrrcc1 |
G |
T |
3: 14,627,345 (GRCm39) |
Q458H |
probably damaging |
Het |
| Maml3 |
A |
T |
3: 51,597,296 (GRCm39) |
D483E |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,810,748 (GRCm39) |
*467R |
probably null |
Het |
| Mms19 |
T |
A |
19: 41,932,997 (GRCm39) |
S1031C |
probably damaging |
Het |
| Myt1l |
T |
C |
12: 29,969,925 (GRCm39) |
I143T |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,860,679 (GRCm39) |
Y426H |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,923,021 (GRCm39) |
S429P |
probably benign |
Het |
| Or4d1 |
T |
A |
11: 87,805,016 (GRCm39) |
T239S |
probably damaging |
Het |
| Or51f1 |
A |
G |
7: 102,506,186 (GRCm39) |
I101T |
probably damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,959 (GRCm39) |
N286I |
probably damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,635 (GRCm39) |
I102V |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,273,040 (GRCm39) |
D93G |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,276,883 (GRCm39) |
M95K |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,133 (GRCm39) |
R762* |
probably null |
Het |
| Piezo1 |
G |
T |
8: 123,224,945 (GRCm39) |
Q654K |
probably damaging |
Het |
| Ppil3 |
A |
G |
1: 58,470,428 (GRCm39) |
Y141H |
probably benign |
Het |
| Prb1c |
T |
A |
6: 132,338,891 (GRCm39) |
N109I |
unknown |
Het |
| Rassf8 |
G |
T |
6: 145,761,266 (GRCm39) |
K197N |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,752,639 (GRCm39) |
Q1894R |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,740,847 (GRCm39) |
N487Y |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,368,604 (GRCm39) |
Y307C |
probably damaging |
Het |
| Sdad1 |
C |
T |
5: 92,452,836 (GRCm39) |
R134Q |
possibly damaging |
Het |
| Shroom1 |
C |
T |
11: 53,356,060 (GRCm39) |
S370F |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
| Slc2a9 |
C |
A |
5: 38,539,442 (GRCm39) |
G353C |
probably damaging |
Het |
| Snx33 |
T |
A |
9: 56,833,185 (GRCm39) |
T295S |
possibly damaging |
Het |
| Spata31d1b |
G |
A |
13: 59,866,172 (GRCm39) |
V1107M |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,115,509 (GRCm39) |
D761G |
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,096,787 (GRCm39) |
V18A |
probably benign |
Het |
| Thap12 |
G |
T |
7: 98,365,161 (GRCm39) |
C443F |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,365,162 (GRCm39) |
C443* |
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,063,158 (GRCm39) |
D496G |
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,974,629 (GRCm39) |
R900* |
probably null |
Het |
| Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
| Trmt1l |
A |
T |
1: 151,318,388 (GRCm39) |
I80L |
probably benign |
Het |
| Tspear |
C |
T |
10: 77,700,529 (GRCm39) |
L120F |
probably damaging |
Het |
| Ttc9b |
G |
A |
7: 27,355,443 (GRCm39) |
V238M |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,909,836 (GRCm39) |
I819V |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,897,795 (GRCm39) |
V270E |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
| Zc3h18 |
A |
T |
8: 123,110,382 (GRCm39) |
D77V |
probably damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (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 |
|
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'- TCTTCCTACTGAGGTCTGGCAG -3'
(R):5'- ACAAGCCTGACTTTGTCCGC -3'
Sequencing Primer
(F):5'- TGAGGTCTGGCAGCCACTTC -3'
(R):5'- ACATGGCCGAGTTCTTGAC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation