Incidental Mutation 'IGL02572:Trpm5'
| ID |
299070 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trpm5
|
| Ensembl Gene |
ENSMUSG00000009246 |
| Gene Name |
transient receptor potential cation channel, subfamily M, member 5 |
| Synonyms |
Ltrpc5, 9430099A16Rik, Mtr1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
IGL02572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 142641613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000150867]
|
| AlphaFold |
Q9JJH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009390
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
| 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 |
probably benign
Transcript: ENSMUST00000150867
|
| SMART Domains |
Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
| 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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
T |
C |
1: 85,652,892 (GRCm39) |
N92S |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,323,329 (GRCm39) |
L99P |
possibly damaging |
Het |
| Adam19 |
T |
A |
11: 46,022,548 (GRCm39) |
Y500* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,358,722 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,197,526 (GRCm39) |
I624T |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,838,041 (GRCm39) |
D244N |
possibly damaging |
Het |
| Atp5mf |
C |
A |
5: 145,124,047 (GRCm39) |
|
probably benign |
Het |
| Bbof1 |
G |
A |
12: 84,475,139 (GRCm39) |
D443N |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,978,573 (GRCm39) |
Q914* |
probably null |
Het |
| C330011M18Rik |
A |
G |
8: 84,793,208 (GRCm39) |
|
probably benign |
Het |
| Cgref1 |
A |
G |
5: 31,090,911 (GRCm39) |
V301A |
probably benign |
Het |
| Coa6 |
T |
C |
8: 127,149,480 (GRCm39) |
Y19H |
probably damaging |
Het |
| Cop1 |
T |
A |
1: 159,136,448 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,579,795 (GRCm39) |
S252P |
probably benign |
Het |
| Dnaaf5 |
T |
G |
5: 139,170,384 (GRCm39) |
S484A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,324,935 (GRCm39) |
S433C |
probably damaging |
Het |
| Efcab5 |
G |
A |
11: 77,028,714 (GRCm39) |
R206* |
probably null |
Het |
| Epop |
A |
T |
11: 97,519,027 (GRCm39) |
S361T |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,871,802 (GRCm39) |
T3530S |
probably benign |
Het |
| Flvcr1 |
A |
G |
1: 190,757,843 (GRCm39) |
Y108H |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,822,347 (GRCm39) |
S6027A |
probably benign |
Het |
| Galnt14 |
A |
G |
17: 73,842,262 (GRCm39) |
L209P |
probably damaging |
Het |
| Hif3a |
C |
A |
7: 16,784,513 (GRCm39) |
R25L |
probably null |
Het |
| Hsf5 |
A |
G |
11: 87,522,521 (GRCm39) |
|
probably benign |
Het |
| Il22ra2 |
A |
T |
10: 19,502,492 (GRCm39) |
T104S |
probably benign |
Het |
| Klrk1 |
A |
G |
6: 129,592,316 (GRCm39) |
S138P |
probably damaging |
Het |
| Lrp5 |
G |
T |
19: 3,664,283 (GRCm39) |
Q815K |
probably benign |
Het |
| Morn4 |
A |
G |
19: 42,064,886 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,781,929 (GRCm39) |
Y375* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,443,943 (GRCm39) |
M1714K |
probably damaging |
Het |
| Or2aj6 |
T |
A |
16: 19,443,848 (GRCm39) |
M1L |
probably benign |
Het |
| Or5aq7 |
G |
A |
2: 86,938,710 (GRCm39) |
T7I |
possibly damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,735 (GRCm39) |
D17V |
possibly damaging |
Het |
| Pappa2 |
C |
T |
1: 158,678,786 (GRCm39) |
A877T |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,532,262 (GRCm39) |
A137T |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,212,044 (GRCm39) |
V2054A |
probably benign |
Het |
| Rad52 |
A |
G |
6: 119,892,188 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rusf1 |
A |
T |
7: 127,889,752 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,519,740 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
C |
T |
6: 54,489,186 (GRCm39) |
D312N |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,109 (GRCm39) |
Q352R |
probably benign |
Het |
| Slc25a28 |
A |
G |
19: 43,652,885 (GRCm39) |
Y259H |
probably damaging |
Het |
| Sppl2a |
T |
C |
2: 126,768,216 (GRCm39) |
M151V |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stra8 |
G |
A |
6: 34,916,094 (GRCm39) |
D280N |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,897,275 (GRCm39) |
D744E |
possibly damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,310 (GRCm39) |
T27A |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,333,818 (GRCm39) |
F99S |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,416,667 (GRCm39) |
T222A |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,913,677 (GRCm39) |
I1272T |
probably damaging |
Het |
| Tnpo1 |
A |
T |
13: 98,985,667 (GRCm39) |
I829N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,598,215 (GRCm39) |
V19566A |
probably damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,040 (GRCm39) |
D81G |
probably damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,127,564 (GRCm39) |
V25A |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation