Incidental Mutation 'IGL01138:Trpm5'
ID |
51641 |
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: 0.080)
|
Stock # |
IGL01138
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 142628306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 990
(M990L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000060433]
[ENSMUST00000105920]
[ENSMUST00000133410]
[ENSMUST00000137856]
[ENSMUST00000208779]
[ENSMUST00000150867]
[ENSMUST00000147995]
[ENSMUST00000177841]
|
AlphaFold |
Q9JJH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009390
AA Change: M990L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000009390 Gene: ENSMUSG00000009246 AA Change: M990L
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 |
probably benign
Transcript: ENSMUST00000060433
|
SMART Domains |
Protein: ENSMUSP00000056582 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
91 |
207 |
3.9e-43 |
PFAM |
low complexity region
|
232 |
250 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105920
|
SMART Domains |
Protein: ENSMUSP00000101540 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126776
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133410
|
SMART Domains |
Protein: ENSMUSP00000123499 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
low complexity region
|
85 |
106 |
N/A |
INTRINSIC |
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
159 |
266 |
5.2e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136602
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137856
|
SMART Domains |
Protein: ENSMUSP00000123353 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
90 |
209 |
1.6e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207776
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146075
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208779
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147995
|
SMART Domains |
Protein: ENSMUSP00000122335 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
90 |
196 |
4.8e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148715
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177841
|
SMART Domains |
Protein: ENSMUSP00000137399 Gene: ENSMUSG00000045752
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
37 |
N/A |
INTRINSIC |
low complexity region
|
55 |
69 |
N/A |
INTRINSIC |
Pfam:TSSC4
|
90 |
210 |
1.7e-34 |
PFAM |
low complexity region
|
232 |
250 |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
A |
G |
13: 61,002,673 (GRCm39) |
V27A |
probably benign |
Het |
Abcg5 |
T |
A |
17: 84,972,275 (GRCm39) |
R499S |
possibly damaging |
Het |
Adamts13 |
T |
C |
2: 26,873,054 (GRCm39) |
S341P |
probably damaging |
Het |
Adgrg1 |
T |
A |
8: 95,730,085 (GRCm39) |
C96S |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,932,275 (GRCm39) |
F215S |
probably damaging |
Het |
Arhgef25 |
A |
G |
10: 127,020,039 (GRCm39) |
F400L |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,977,110 (GRCm39) |
E384G |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,585,335 (GRCm39) |
D1314G |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,735,232 (GRCm39) |
I806F |
probably damaging |
Het |
Coro1c |
G |
A |
5: 113,990,222 (GRCm39) |
|
probably benign |
Het |
Dnmt3b |
A |
T |
2: 153,503,361 (GRCm39) |
D4V |
probably benign |
Het |
Ermn |
G |
T |
2: 57,942,707 (GRCm39) |
L8M |
possibly damaging |
Het |
F13b |
T |
A |
1: 139,444,950 (GRCm39) |
N533K |
probably damaging |
Het |
Fam171a1 |
T |
C |
2: 3,203,657 (GRCm39) |
V93A |
possibly damaging |
Het |
Gpr107 |
T |
A |
2: 31,062,028 (GRCm39) |
L152Q |
probably benign |
Het |
Guca1a |
C |
A |
17: 47,711,309 (GRCm39) |
E12D |
probably damaging |
Het |
Igtp |
A |
G |
11: 58,096,970 (GRCm39) |
N47S |
possibly damaging |
Het |
Lratd2 |
T |
A |
15: 60,694,967 (GRCm39) |
I260F |
probably damaging |
Het |
Lrrc8e |
A |
G |
8: 4,284,084 (GRCm39) |
N103S |
probably damaging |
Het |
Lsmem1 |
A |
G |
12: 40,230,698 (GRCm39) |
L68P |
probably damaging |
Het |
Maml3 |
A |
G |
3: 51,597,979 (GRCm39) |
S902P |
possibly damaging |
Het |
Mkln1 |
A |
T |
6: 31,409,925 (GRCm39) |
N188Y |
probably damaging |
Het |
Mlxip |
C |
T |
5: 123,588,219 (GRCm39) |
R771W |
probably damaging |
Het |
Myf6 |
T |
C |
10: 107,330,259 (GRCm39) |
R103G |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,314,467 (GRCm39) |
I481K |
probably damaging |
Het |
Nrap |
T |
A |
19: 56,343,970 (GRCm39) |
S645C |
probably damaging |
Het |
Nup205 |
G |
T |
6: 35,185,019 (GRCm39) |
E813* |
probably null |
Het |
Or13c7c |
A |
G |
4: 43,835,617 (GRCm39) |
L291P |
probably damaging |
Het |
Plekhg5 |
C |
T |
4: 152,191,435 (GRCm39) |
R410W |
probably damaging |
Het |
Pnma8b |
C |
A |
7: 16,679,088 (GRCm39) |
T24K |
unknown |
Het |
Polq |
A |
T |
16: 36,866,231 (GRCm39) |
Y476F |
possibly damaging |
Het |
Prkd2 |
T |
C |
7: 16,582,736 (GRCm39) |
S200P |
probably damaging |
Het |
Rif1 |
C |
A |
2: 52,001,534 (GRCm39) |
L1663I |
probably damaging |
Het |
Serpina5 |
A |
G |
12: 104,070,003 (GRCm39) |
Y300C |
possibly damaging |
Het |
Shroom4 |
T |
C |
X: 6,497,257 (GRCm39) |
S806P |
probably damaging |
Het |
Sirpa |
T |
C |
2: 129,472,085 (GRCm39) |
V290A |
probably damaging |
Het |
Slc25a47 |
C |
T |
12: 108,821,948 (GRCm39) |
R246C |
probably damaging |
Het |
Slc9a6 |
A |
G |
X: 55,668,791 (GRCm39) |
D199G |
probably damaging |
Het |
Smarca5 |
T |
A |
8: 81,427,705 (GRCm39) |
K1048M |
possibly damaging |
Het |
Sos2 |
C |
T |
12: 69,663,623 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
A |
T |
17: 19,602,885 (GRCm39) |
T547S |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,446,916 (GRCm39) |
|
probably benign |
Het |
Zfp994 |
G |
A |
17: 22,421,649 (GRCm39) |
|
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 |
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 |
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 |
2013-06-21 |