Incidental Mutation 'R4847:Trpm5'
| ID |
373310 |
| 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 |
042460-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4847 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142641500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 137
(I137F)
|
| 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: I137F
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: I137F
| 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: I137F
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: I137F
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
C |
T |
11: 80,264,940 (GRCm39) |
V171M |
probably damaging |
Het |
| Abhd3 |
A |
G |
18: 10,647,786 (GRCm39) |
S328P |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,625 (GRCm39) |
K54N |
possibly damaging |
Het |
| Amacr |
C |
T |
15: 10,994,958 (GRCm39) |
Q257* |
probably null |
Het |
| Ankrd12 |
A |
T |
17: 66,331,087 (GRCm39) |
D309E |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,033,266 (GRCm39) |
T600A |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,608,287 (GRCm39) |
E586G |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,994,901 (GRCm39) |
|
probably null |
Het |
| Cant1 |
G |
A |
11: 118,300,936 (GRCm39) |
Q240* |
probably null |
Het |
| Cep152 |
T |
C |
2: 125,460,394 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Cep76 |
C |
A |
18: 67,752,639 (GRCm39) |
R603I |
probably benign |
Het |
| Chad |
T |
C |
11: 94,459,153 (GRCm39) |
S352P |
probably benign |
Het |
| Ckap2 |
T |
C |
8: 22,665,084 (GRCm39) |
E460G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,671,348 (GRCm39) |
Y1004C |
unknown |
Het |
| Col9a3 |
G |
A |
2: 180,257,318 (GRCm39) |
G480S |
probably damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,963,561 (GRCm39) |
D430G |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,204,063 (GRCm39) |
D305G |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,452,396 (GRCm39) |
E76* |
probably null |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2c39 |
A |
T |
19: 39,549,340 (GRCm39) |
N286I |
probably damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,796 (GRCm39) |
E174G |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,677 (GRCm39) |
E369G |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,120,911 (GRCm39) |
H636L |
probably damaging |
Het |
| Epha1 |
T |
A |
6: 42,338,848 (GRCm39) |
D687V |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,721,959 (GRCm39) |
W132R |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,692,851 (GRCm39) |
D170V |
possibly damaging |
Het |
| Gas2l1 |
A |
G |
11: 5,014,173 (GRCm39) |
S96P |
probably damaging |
Het |
| Gfy |
G |
A |
7: 44,827,020 (GRCm39) |
P359S |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,029,767 (GRCm39) |
N273S |
probably benign |
Het |
| Hr |
A |
T |
14: 70,793,916 (GRCm39) |
T59S |
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,808,058 (GRCm39) |
N151K |
probably benign |
Het |
| Impdh2 |
A |
G |
9: 108,441,870 (GRCm39) |
Y166C |
probably damaging |
Het |
| Impdh2 |
T |
A |
9: 108,442,714 (GRCm39) |
F514Y |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
| Klhl17 |
A |
T |
4: 156,316,054 (GRCm39) |
H433Q |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kntc1 |
A |
C |
5: 123,940,337 (GRCm39) |
N1645T |
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,661,923 (GRCm39) |
I114V |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,492,854 (GRCm39) |
L160Q |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,350,282 (GRCm39) |
S27C |
probably damaging |
Het |
| Mthfr |
T |
C |
4: 148,132,596 (GRCm39) |
V217A |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,079,898 (GRCm39) |
Y257H |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,034 (GRCm39) |
C102* |
probably null |
Het |
| Pde1c |
T |
C |
6: 56,100,019 (GRCm39) |
K614E |
possibly damaging |
Het |
| Pds5b |
A |
T |
5: 150,671,577 (GRCm39) |
E407V |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,280,525 (GRCm39) |
S586P |
possibly damaging |
Het |
| Prkcb |
C |
T |
7: 122,167,372 (GRCm39) |
R361W |
probably benign |
Het |
| Psen2 |
T |
A |
1: 180,073,197 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
T |
A |
15: 73,103,805 (GRCm39) |
M82L |
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,411,331 (GRCm39) |
D400G |
probably damaging |
Het |
| Samd8 |
G |
A |
14: 21,842,503 (GRCm39) |
R275Q |
possibly damaging |
Het |
| Senp2 |
A |
G |
16: 21,857,386 (GRCm39) |
T403A |
possibly damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Skap2 |
T |
A |
6: 51,980,649 (GRCm39) |
I52L |
probably benign |
Het |
| Slc5a7 |
T |
C |
17: 54,584,168 (GRCm39) |
D374G |
possibly damaging |
Het |
| Slmap |
A |
T |
14: 26,147,763 (GRCm39) |
L699M |
possibly damaging |
Het |
| Sntg1 |
A |
C |
1: 8,665,706 (GRCm39) |
C203G |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,533,594 (GRCm39) |
S3284P |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,857 (GRCm39) |
Y36C |
probably damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,906,311 (GRCm39) |
Y971C |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,945,232 (GRCm39) |
K426E |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,375,981 (GRCm39) |
D193G |
probably benign |
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 |
|
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'- ATAGTTTCAGGGCCTCTCGG -3'
(R):5'- GCCTGCATTGTAGAAACCTG -3'
Sequencing Primer
(F):5'- TCTCGGAGTGGCACAATTC -3'
(R):5'- CCTGCATTGTAGAAACCTGTCTGG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation