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 |
9430099A16Rik, Mtr1, Ltrpc5 |
| 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 |
143069153-143094642 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143082785 bp (GRCm38)
|
| 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 |
|---|
| 1700029J07Rik |
A |
T |
8: 45,970,417 (GRCm38) |
M86K |
possibly damaging |
Het |
| 2700062C07Rik |
A |
G |
18: 24,470,904 (GRCm38) |
M1V |
probably null |
Het |
| Abcb11 |
T |
A |
2: 69,323,962 (GRCm38) |
T87S |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 37,996,275 (GRCm38) |
V210A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,736,494 (GRCm38) |
S246P |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,482,720 (GRCm38) |
K222R |
probably benign |
Het |
| Chsy3 |
C |
A |
18: 59,179,413 (GRCm38) |
F319L |
probably benign |
Het |
| Coro2b |
T |
C |
9: 62,426,578 (GRCm38) |
T345A |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,263,712 (GRCm38) |
V216A |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,072,334 (GRCm38) |
I213V |
probably benign |
Het |
| Dcaf15 |
A |
G |
8: 84,097,728 (GRCm38) |
C586R |
probably benign |
Het |
| Ddr2 |
T |
A |
1: 169,998,088 (GRCm38) |
E314D |
probably benign |
Het |
| Dennd5a |
C |
T |
7: 109,896,336 (GRCm38) |
R1196H |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,834,115 (GRCm38) |
A4404V |
probably damaging |
Het |
| Dpf2 |
A |
G |
19: 5,906,999 (GRCm38) |
|
probably null |
Het |
| Eif2ak4 |
A |
T |
2: 118,422,087 (GRCm38) |
H302L |
probably damaging |
Het |
| Eif2d |
G |
T |
1: 131,165,152 (GRCm38) |
R399L |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,311,468 (GRCm38) |
V260A |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,028,135 (GRCm38) |
Y575N |
probably benign |
Het |
| Fscb |
T |
C |
12: 64,474,470 (GRCm38) |
E74G |
possibly damaging |
Het |
| Gdpd2 |
G |
A |
X: 100,734,193 (GRCm38) |
M243I |
possibly damaging |
Het |
| Glra1 |
C |
A |
11: 55,536,384 (GRCm38) |
D42Y |
probably damaging |
Het |
| Gm281 |
T |
C |
14: 13,845,292 (GRCm38) |
N540S |
probably benign |
Het |
| Gm8882 |
T |
A |
6: 132,361,928 (GRCm38) |
N109I |
unknown |
Het |
| Gnl2 |
T |
C |
4: 125,041,018 (GRCm38) |
F156L |
probably benign |
Het |
| Gpr37 |
C |
A |
6: 25,689,086 (GRCm38) |
R4L |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,341,977 (GRCm38) |
H2892L |
possibly damaging |
Het |
| Helb |
T |
C |
10: 120,084,849 (GRCm38) |
D1063G |
probably benign |
Het |
| Htr2c |
A |
G |
X: 147,193,797 (GRCm38) |
T163A |
probably benign |
Het |
| Impact |
T |
A |
18: 12,985,289 (GRCm38) |
H188Q |
probably damaging |
Het |
| Kirrel |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Lnx2 |
C |
T |
5: 147,029,137 (GRCm38) |
G391R |
probably damaging |
Het |
| Lrrc19 |
T |
C |
4: 94,638,349 (GRCm38) |
I324V |
probably benign |
Het |
| Lrrcc1 |
G |
T |
3: 14,562,285 (GRCm38) |
Q458H |
probably damaging |
Het |
| Maml3 |
A |
T |
3: 51,689,875 (GRCm38) |
D483E |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,662,629 (GRCm38) |
*467R |
probably null |
Het |
| Mms19 |
T |
A |
19: 41,944,558 (GRCm38) |
S1031C |
probably damaging |
Het |
| Myt1l |
T |
C |
12: 29,919,926 (GRCm38) |
I143T |
possibly damaging |
Het |
| Nuggc |
T |
C |
14: 65,623,230 (GRCm38) |
Y426H |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,424,082 (GRCm38) |
C500S |
probably damaging |
Het |
| Olfr464 |
T |
A |
11: 87,914,190 (GRCm38) |
T239S |
probably damaging |
Het |
| Olfr470 |
T |
C |
7: 107,845,428 (GRCm38) |
I102V |
probably benign |
Het |
| Olfr491 |
A |
T |
7: 108,317,752 (GRCm38) |
N286I |
probably damaging |
Het |
| Olfr566 |
A |
G |
7: 102,856,979 (GRCm38) |
I101T |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 144,196,451 (GRCm38) |
S429P |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,437,206 (GRCm38) |
D93G |
probably benign |
Het |
| Pdia5 |
A |
T |
16: 35,456,513 (GRCm38) |
M95K |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,770,252 (GRCm38) |
R762* |
probably null |
Het |
| Piezo1 |
G |
T |
8: 122,498,206 (GRCm38) |
Q654K |
probably damaging |
Het |
| Ppil3 |
A |
G |
1: 58,431,269 (GRCm38) |
Y141H |
probably benign |
Het |
| Rassf8 |
G |
T |
6: 145,815,540 (GRCm38) |
K197N |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,737,753 (GRCm38) |
Q1894R |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,910,502 (GRCm38) |
N487Y |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,539,538 (GRCm38) |
Y307C |
probably damaging |
Het |
| Sdad1 |
C |
T |
5: 92,304,977 (GRCm38) |
R134Q |
possibly damaging |
Het |
| Shroom1 |
C |
T |
11: 53,465,233 (GRCm38) |
S370F |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,716,326 (GRCm38) |
V313A |
probably benign |
Het |
| Slc2a9 |
C |
A |
5: 38,382,099 (GRCm38) |
G353C |
probably damaging |
Het |
| Snx33 |
T |
A |
9: 56,925,901 (GRCm38) |
T295S |
possibly damaging |
Het |
| Spata31d1b |
G |
A |
13: 59,718,358 (GRCm38) |
V1107M |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,224,683 (GRCm38) |
D761G |
probably benign |
Het |
| Tfeb |
T |
C |
17: 47,785,862 (GRCm38) |
V18A |
probably benign |
Het |
| Thap12 |
G |
T |
7: 98,715,954 (GRCm38) |
C443F |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,715,955 (GRCm38) |
C443* |
probably null |
Het |
| Tmem67 |
T |
C |
4: 12,063,158 (GRCm38) |
D496G |
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,841,572 (GRCm38) |
R900* |
probably null |
Het |
| Trim9 |
T |
C |
12: 70,248,273 (GRCm38) |
N688D |
probably damaging |
Het |
| Trmt1l |
A |
T |
1: 151,442,637 (GRCm38) |
I80L |
probably benign |
Het |
| Tspear |
C |
T |
10: 77,864,695 (GRCm38) |
L120F |
probably damaging |
Het |
| Ttc9b |
G |
A |
7: 27,656,018 (GRCm38) |
V238M |
probably benign |
Het |
| Usp20 |
A |
G |
2: 31,019,824 (GRCm38) |
I819V |
probably benign |
Het |
| Vmn2r102 |
T |
A |
17: 19,677,533 (GRCm38) |
V270E |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,928,120 (GRCm38) |
M331I |
probably benign |
Het |
| Zc3h18 |
A |
T |
8: 122,383,643 (GRCm38) |
D77V |
probably damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 105,483,744 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Trpm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Trpm5
|
APN |
7 |
143,082,991 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00717:Trpm5
|
APN |
7 |
143,073,990 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01138:Trpm5
|
APN |
7 |
143,074,569 (GRCm38) |
missense |
probably benign |
|
|
IGL01590:Trpm5
|
APN |
7 |
143,082,734 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01603:Trpm5
|
APN |
7 |
143,075,601 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL01685:Trpm5
|
APN |
7 |
143,082,354 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL01878:Trpm5
|
APN |
7 |
143,074,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02533:Trpm5
|
APN |
7 |
143,089,545 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02572:Trpm5
|
APN |
7 |
143,087,876 (GRCm38) |
splice site |
probably benign |
|
|
IGL02750:Trpm5
|
APN |
7 |
143,074,484 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL02862:Trpm5
|
APN |
7 |
143,082,525 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Trpm5
|
UTSW |
7 |
143,085,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0238:Trpm5
|
UTSW |
7 |
143,082,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0238:Trpm5
|
UTSW |
7 |
143,082,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0239:Trpm5
|
UTSW |
7 |
143,082,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0239:Trpm5
|
UTSW |
7 |
143,082,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0334:Trpm5
|
UTSW |
7 |
143,086,876 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0799:Trpm5
|
UTSW |
7 |
143,078,351 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1187:Trpm5
|
UTSW |
7 |
143,074,469 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1373:Trpm5
|
UTSW |
7 |
143,086,842 (GRCm38) |
splice site |
probably benign |
|
|
R1521:Trpm5
|
UTSW |
7 |
143,082,889 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1603:Trpm5
|
UTSW |
7 |
143,085,209 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1606:Trpm5
|
UTSW |
7 |
143,085,171 (GRCm38) |
nonsense |
probably null |
|
|
R2009:Trpm5
|
UTSW |
7 |
143,087,738 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R2437:Trpm5
|
UTSW |
7 |
143,082,561 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2508:Trpm5
|
UTSW |
7 |
143,088,919 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2516:Trpm5
|
UTSW |
7 |
143,074,517 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2985:Trpm5
|
UTSW |
7 |
143,082,938 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3036:Trpm5
|
UTSW |
7 |
143,085,463 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3037:Trpm5
|
UTSW |
7 |
143,085,463 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3688:Trpm5
|
UTSW |
7 |
143,078,456 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4156:Trpm5
|
UTSW |
7 |
143,089,055 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4811:Trpm5
|
UTSW |
7 |
143,080,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4814:Trpm5
|
UTSW |
7 |
143,082,636 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R4847:Trpm5
|
UTSW |
7 |
143,087,763 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5055:Trpm5
|
UTSW |
7 |
143,072,784 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5256:Trpm5
|
UTSW |
7 |
143,082,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5413:Trpm5
|
UTSW |
7 |
143,080,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5668:Trpm5
|
UTSW |
7 |
143,073,229 (GRCm38) |
missense |
probably benign |
0.39 |
|
R6133:Trpm5
|
UTSW |
7 |
143,088,951 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6242:Trpm5
|
UTSW |
7 |
143,073,182 (GRCm38) |
missense |
probably benign |
|
|
R6564:Trpm5
|
UTSW |
7 |
143,072,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6702:Trpm5
|
UTSW |
7 |
143,069,318 (GRCm38) |
unclassified |
probably benign |
|
|
R6703:Trpm5
|
UTSW |
7 |
143,069,318 (GRCm38) |
unclassified |
probably benign |
|
|
R6829:Trpm5
|
UTSW |
7 |
143,069,429 (GRCm38) |
unclassified |
probably benign |
|
|
R6940:Trpm5
|
UTSW |
7 |
143,084,810 (GRCm38) |
nonsense |
probably null |
|
|
R7337:Trpm5
|
UTSW |
7 |
143,089,019 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7513:Trpm5
|
UTSW |
7 |
143,081,835 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7560:Trpm5
|
UTSW |
7 |
143,080,986 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7801:Trpm5
|
UTSW |
7 |
143,085,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7961:Trpm5
|
UTSW |
7 |
143,080,369 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8009:Trpm5
|
UTSW |
7 |
143,080,369 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8189:Trpm5
|
UTSW |
7 |
143,081,838 (GRCm38) |
missense |
probably benign |
0.32 |
|
R8441:Trpm5
|
UTSW |
7 |
143,072,434 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R8507:Trpm5
|
UTSW |
7 |
143,078,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8825:Trpm5
|
UTSW |
7 |
143,083,016 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9443:Trpm5
|
UTSW |
7 |
143,085,123 (GRCm38) |
missense |
probably benign |
|
|
R9577:Trpm5
|
UTSW |
7 |
143,079,394 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9608:Trpm5
|
UTSW |
7 |
143,079,411 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9647:Trpm5
|
UTSW |
7 |
143,080,761 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
X0022:Trpm5
|
UTSW |
7 |
143,083,042 (GRCm38) |
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