Incidental Mutation 'R0238:Trpm5'
ID |
66103 |
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 |
038476-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R0238 (G1)
|
Quality Score |
218 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 142636695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 414
(T414N)
|
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: T414N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000009390 Gene: ENSMUSG00000009246 AA Change: T414N
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: T414N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114302 Gene: ENSMUSG00000009246 AA Change: T414N
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 |
0.6467 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 92.6%
- 20x: 76.9%
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aar2 |
T |
G |
2: 156,392,893 (GRCm39) |
V94G |
probably benign |
Het |
Acp5 |
A |
T |
9: 22,041,218 (GRCm39) |
S70T |
possibly damaging |
Het |
Adcy1 |
C |
G |
11: 7,089,162 (GRCm39) |
N525K |
possibly damaging |
Het |
Aknad1 |
A |
G |
3: 108,688,555 (GRCm39) |
M628V |
probably benign |
Het |
Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
Cacna1d |
A |
G |
14: 29,845,453 (GRCm39) |
V572A |
probably benign |
Het |
Ccdc158 |
A |
C |
5: 92,809,977 (GRCm39) |
M177R |
probably benign |
Het |
Ccdc191 |
A |
T |
16: 43,767,859 (GRCm39) |
R678* |
probably null |
Het |
Cdkn2d |
C |
A |
9: 21,202,288 (GRCm39) |
|
probably benign |
Het |
Cdx2 |
G |
T |
5: 147,240,097 (GRCm39) |
T193K |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,242,681 (GRCm39) |
M695K |
probably benign |
Het |
Cfap70 |
A |
C |
14: 20,498,673 (GRCm39) |
S5A |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,659,456 (GRCm39) |
S139P |
probably damaging |
Het |
Chmp7 |
A |
G |
14: 69,958,446 (GRCm39) |
V241A |
probably damaging |
Het |
Cnga1 |
A |
G |
5: 72,762,374 (GRCm39) |
I380T |
probably damaging |
Het |
Cts6 |
T |
A |
13: 61,349,633 (GRCm39) |
E53D |
probably damaging |
Het |
Dclk3 |
A |
T |
9: 111,311,696 (GRCm39) |
N646I |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,370,738 (GRCm39) |
S4673G |
probably benign |
Het |
Dock4 |
G |
T |
12: 40,787,539 (GRCm39) |
S818I |
probably damaging |
Het |
Dysf |
C |
T |
6: 84,041,461 (GRCm39) |
Q156* |
probably null |
Het |
Fam163b |
T |
C |
2: 27,002,646 (GRCm39) |
N117S |
probably damaging |
Het |
Fam89a |
A |
G |
8: 125,467,971 (GRCm39) |
Y114H |
probably damaging |
Het |
Flcn |
T |
C |
11: 59,691,902 (GRCm39) |
N249S |
probably benign |
Het |
Gm20422 |
T |
C |
8: 70,219,365 (GRCm39) |
Y53C |
probably damaging |
Het |
Gnai1 |
A |
G |
5: 18,478,548 (GRCm39) |
S206P |
probably damaging |
Het |
H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
Hal |
T |
C |
10: 93,339,344 (GRCm39) |
S478P |
possibly damaging |
Het |
Haus3 |
G |
A |
5: 34,323,600 (GRCm39) |
P337S |
possibly damaging |
Het |
Hectd1 |
T |
A |
12: 51,816,101 (GRCm39) |
M1324L |
possibly damaging |
Het |
Hspa9 |
A |
T |
18: 35,079,699 (GRCm39) |
Y243* |
probably null |
Het |
Htr3a |
T |
C |
9: 48,817,686 (GRCm39) |
T96A |
probably benign |
Het |
Ift140 |
C |
A |
17: 25,264,497 (GRCm39) |
C557* |
probably null |
Het |
Jph3 |
A |
G |
8: 122,480,459 (GRCm39) |
Q379R |
possibly damaging |
Het |
Kcnb1 |
A |
G |
2: 166,946,889 (GRCm39) |
V653A |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,455,131 (GRCm39) |
E1551G |
probably damaging |
Het |
Krt17 |
G |
A |
11: 100,151,704 (GRCm39) |
R30* |
probably null |
Het |
Lamb3 |
A |
T |
1: 193,003,361 (GRCm39) |
D100V |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,455,265 (GRCm39) |
D1385G |
probably damaging |
Het |
Map3k21 |
A |
G |
8: 126,671,709 (GRCm39) |
D999G |
possibly damaging |
Het |
Marf1 |
T |
C |
16: 13,969,147 (GRCm39) |
I109V |
probably benign |
Het |
Mcam |
T |
G |
9: 44,051,502 (GRCm39) |
|
probably null |
Het |
Med18 |
T |
C |
4: 132,187,337 (GRCm39) |
H99R |
probably damaging |
Het |
Mettl25 |
C |
T |
10: 105,662,386 (GRCm39) |
V195I |
probably damaging |
Het |
Myh8 |
A |
G |
11: 67,192,518 (GRCm39) |
T1466A |
probably benign |
Het |
Myo1e |
A |
T |
9: 70,249,408 (GRCm39) |
I503F |
possibly damaging |
Het |
Myo3b |
T |
A |
2: 69,935,769 (GRCm39) |
C61S |
probably benign |
Het |
Myorg |
A |
T |
4: 41,498,912 (GRCm39) |
N239K |
probably benign |
Het |
Nf1 |
A |
T |
11: 79,309,400 (GRCm39) |
K438M |
possibly damaging |
Het |
Nlrp9c |
A |
G |
7: 26,077,437 (GRCm39) |
S727P |
possibly damaging |
Het |
Nmbr |
C |
T |
10: 14,646,139 (GRCm39) |
Q338* |
probably null |
Het |
Nt5e |
A |
G |
9: 88,249,385 (GRCm39) |
S440G |
possibly damaging |
Het |
Nubp2 |
T |
C |
17: 25,103,445 (GRCm39) |
E144G |
probably damaging |
Het |
Or12e7 |
T |
C |
2: 87,288,381 (GRCm39) |
F291L |
probably benign |
Het |
Or2ag1b |
A |
G |
7: 106,288,462 (GRCm39) |
Y159H |
probably benign |
Het |
Or52s1 |
G |
A |
7: 102,861,933 (GRCm39) |
V289M |
possibly damaging |
Het |
Otogl |
T |
A |
10: 107,642,557 (GRCm39) |
N1291I |
probably damaging |
Het |
Pa2g4 |
T |
C |
10: 128,399,511 (GRCm39) |
K51R |
probably benign |
Het |
Pcdhb12 |
A |
G |
18: 37,569,780 (GRCm39) |
I309V |
probably benign |
Het |
Pck1 |
T |
G |
2: 172,998,861 (GRCm39) |
I373S |
possibly damaging |
Het |
Pga5 |
A |
G |
19: 10,646,817 (GRCm39) |
Y305H |
probably damaging |
Het |
Plxnd1 |
G |
T |
6: 115,945,754 (GRCm39) |
D906E |
probably benign |
Het |
Ppfia4 |
T |
C |
1: 134,256,927 (GRCm39) |
E98G |
possibly damaging |
Het |
Rab39 |
G |
A |
9: 53,617,330 (GRCm39) |
T29I |
probably damaging |
Het |
Raet1e |
C |
A |
10: 22,056,761 (GRCm39) |
H112Q |
possibly damaging |
Het |
Rars2 |
T |
C |
4: 34,645,838 (GRCm39) |
Y252H |
probably damaging |
Het |
Rars2 |
A |
C |
4: 34,656,030 (GRCm39) |
Q421P |
probably benign |
Het |
Rasa2 |
A |
T |
9: 96,450,460 (GRCm39) |
D479E |
probably damaging |
Het |
Rbl2 |
A |
T |
8: 91,833,135 (GRCm39) |
T689S |
probably damaging |
Het |
Rims4 |
C |
T |
2: 163,705,945 (GRCm39) |
V230M |
probably benign |
Het |
Skp2 |
A |
C |
15: 9,127,971 (GRCm39) |
|
probably null |
Het |
Slc35f4 |
A |
T |
14: 49,541,713 (GRCm39) |
I347N |
possibly damaging |
Het |
Slc4a2 |
A |
T |
5: 24,641,272 (GRCm39) |
|
probably null |
Het |
Slc52a3 |
T |
C |
2: 151,850,076 (GRCm39) |
*461Q |
probably null |
Het |
Slc6a1 |
G |
A |
6: 114,279,761 (GRCm39) |
V142I |
probably benign |
Het |
Susd5 |
A |
G |
9: 113,925,977 (GRCm39) |
*620W |
probably null |
Het |
Timm21 |
T |
C |
18: 84,965,791 (GRCm39) |
N239S |
probably damaging |
Het |
Tmem63c |
T |
C |
12: 87,122,413 (GRCm39) |
W404R |
probably damaging |
Het |
Tnrc6b |
A |
G |
15: 80,772,065 (GRCm39) |
D1118G |
probably damaging |
Het |
Traf2 |
G |
C |
2: 25,427,138 (GRCm39) |
A71G |
possibly damaging |
Het |
Trim54 |
A |
G |
5: 31,291,463 (GRCm39) |
M195V |
probably benign |
Het |
Trip11 |
C |
T |
12: 101,850,987 (GRCm39) |
E741K |
probably damaging |
Het |
Trp73 |
AGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTG |
4: 154,146,981 (GRCm39) |
|
probably benign |
Het |
Vps51 |
G |
T |
19: 6,121,467 (GRCm39) |
S185* |
probably null |
Het |
Zfp329 |
G |
T |
7: 12,544,756 (GRCm39) |
T256K |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,740,022 (GRCm39) |
Y748H |
probably damaging |
Het |
Zfp777 |
T |
C |
6: 48,001,903 (GRCm39) |
E773G |
probably 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 |
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 |
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 |
|
Posted On |
2013-08-19 |