Incidental Mutation 'R2516:Trpm5'
ID |
253797 |
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 |
040420-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R2516 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 142628254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 1007
(P1007Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000060433]
[ENSMUST00000105920]
[ENSMUST00000133410]
[ENSMUST00000137856]
[ENSMUST00000208779]
[ENSMUST00000147995]
[ENSMUST00000177841]
[ENSMUST00000150867]
|
AlphaFold |
Q9JJH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009390
AA Change: P1007Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000009390 Gene: ENSMUSG00000009246 AA Change: P1007Q
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 |
unknown
Transcript: ENSMUST00000148715
AA Change: P15Q
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207776
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146075
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208779
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150589
|
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: 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 |
|
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (65/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,159,673 (GRCm39) |
I6N |
possibly damaging |
Het |
Aen |
T |
C |
7: 78,555,616 (GRCm39) |
V188A |
probably damaging |
Het |
Afg3l1 |
A |
G |
8: 124,228,693 (GRCm39) |
E753G |
probably damaging |
Het |
Alas1 |
G |
A |
9: 106,115,859 (GRCm39) |
T385I |
probably damaging |
Het |
Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
Ankrd65 |
A |
G |
4: 155,875,868 (GRCm39) |
T30A |
possibly damaging |
Het |
App |
T |
C |
16: 84,775,117 (GRCm39) |
S582G |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,223,879 (GRCm39) |
V1473E |
possibly damaging |
Het |
Arhgap21 |
G |
A |
2: 20,859,809 (GRCm39) |
P1196S |
probably damaging |
Het |
Arhgap24 |
A |
G |
5: 103,039,776 (GRCm39) |
T238A |
probably benign |
Het |
Atf7 |
T |
C |
15: 102,437,439 (GRCm39) |
|
probably benign |
Het |
Best1 |
G |
T |
19: 9,970,675 (GRCm39) |
S55* |
probably null |
Het |
Capn11 |
A |
G |
17: 45,944,725 (GRCm39) |
V514A |
probably damaging |
Het |
Cep104 |
T |
A |
4: 154,073,603 (GRCm39) |
M52K |
probably damaging |
Het |
Clca3a1 |
C |
T |
3: 144,443,619 (GRCm39) |
|
probably null |
Het |
Cyp3a25 |
T |
C |
5: 145,939,837 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
G |
A |
9: 54,307,378 (GRCm39) |
P2197S |
probably damaging |
Het |
Drosha |
T |
C |
15: 12,859,551 (GRCm39) |
|
probably null |
Het |
Exosc9 |
A |
G |
3: 36,617,311 (GRCm39) |
K355R |
probably benign |
Het |
Fut1 |
A |
C |
7: 45,268,622 (GRCm39) |
H192P |
probably benign |
Het |
Gm572 |
T |
A |
4: 148,748,841 (GRCm39) |
V166D |
possibly damaging |
Het |
Gm9966 |
C |
T |
7: 95,607,735 (GRCm39) |
P19S |
unknown |
Het |
Gmds |
C |
T |
13: 32,284,456 (GRCm39) |
V219I |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,173,965 (GRCm39) |
E25K |
probably benign |
Het |
Il4i1 |
T |
C |
7: 44,489,315 (GRCm39) |
F368S |
probably damaging |
Het |
Irak1bp1 |
T |
C |
9: 82,712,373 (GRCm39) |
L98P |
probably damaging |
Het |
Khdrbs3 |
T |
C |
15: 68,896,544 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
T |
C |
7: 139,501,738 (GRCm39) |
I925T |
probably damaging |
Het |
Laptm4a |
T |
C |
12: 8,988,151 (GRCm39) |
I296T |
probably benign |
Het |
Lpl |
A |
T |
8: 69,340,170 (GRCm39) |
H55L |
probably benign |
Het |
Lrrk2 |
C |
A |
15: 91,640,130 (GRCm39) |
N1558K |
probably benign |
Het |
Mfsd2a |
A |
G |
4: 122,844,280 (GRCm39) |
L289P |
probably damaging |
Het |
Mmrn2 |
T |
A |
14: 34,120,759 (GRCm39) |
M543K |
probably benign |
Het |
Mnat1 |
T |
C |
12: 73,228,550 (GRCm39) |
|
probably benign |
Het |
Msto1 |
A |
T |
3: 88,819,200 (GRCm39) |
|
probably null |
Het |
Mtus1 |
A |
G |
8: 41,535,776 (GRCm39) |
Y647H |
probably damaging |
Het |
Nars1 |
A |
T |
18: 64,638,087 (GRCm39) |
V289E |
probably damaging |
Het |
Oit3 |
T |
A |
10: 59,264,167 (GRCm39) |
K322N |
probably damaging |
Het |
Oit3 |
G |
A |
10: 59,277,507 (GRCm39) |
|
probably benign |
Het |
Or4k1 |
T |
C |
14: 50,377,440 (GRCm39) |
I219V |
probably benign |
Het |
Or5b113 |
T |
A |
19: 13,342,557 (GRCm39) |
C188* |
probably null |
Het |
Or5m12 |
A |
G |
2: 85,734,900 (GRCm39) |
I166T |
probably benign |
Het |
Or6c211 |
G |
A |
10: 129,506,155 (GRCm39) |
R78W |
probably damaging |
Het |
Pecr |
A |
T |
1: 72,316,469 (GRCm39) |
C79S |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,307,116 (GRCm39) |
D478G |
probably damaging |
Het |
Pls1 |
A |
T |
9: 95,658,616 (GRCm39) |
M264K |
probably benign |
Het |
Ptprj |
C |
A |
2: 90,305,340 (GRCm39) |
|
probably benign |
Het |
Pygm |
A |
G |
19: 6,447,631 (GRCm39) |
D646G |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Scn8a |
T |
C |
15: 100,867,043 (GRCm39) |
V283A |
probably benign |
Het |
Shisa5 |
T |
C |
9: 108,885,575 (GRCm39) |
|
probably null |
Het |
Slc10a4 |
A |
G |
5: 73,165,848 (GRCm39) |
I246V |
possibly damaging |
Het |
Slc1a1 |
A |
T |
19: 28,870,312 (GRCm39) |
I104F |
probably benign |
Het |
Slc22a8 |
A |
G |
19: 8,587,559 (GRCm39) |
Y511C |
probably benign |
Het |
Slc6a5 |
A |
G |
7: 49,606,210 (GRCm39) |
N706S |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,697,433 (GRCm39) |
K96E |
probably damaging |
Het |
Stom |
G |
A |
2: 35,205,977 (GRCm39) |
R251* |
probably null |
Het |
Sycp1 |
T |
C |
3: 102,752,382 (GRCm39) |
E800G |
probably benign |
Het |
Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
Tiam2 |
G |
A |
17: 3,503,657 (GRCm39) |
V945I |
probably damaging |
Het |
Uchl1 |
T |
G |
5: 66,839,956 (GRCm39) |
I139S |
probably damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,134,288 (GRCm39) |
I104T |
possibly damaging |
Het |
Vmn2r97 |
G |
A |
17: 19,167,814 (GRCm39) |
M689I |
probably benign |
Het |
Zc3h18 |
A |
T |
8: 123,129,904 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
Zfp456 |
T |
C |
13: 67,510,491 (GRCm39) |
K99R |
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 |
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 |
PCR Primer
(F):5'- AACCCCAGTCCCTTCTATGG -3'
(R):5'- CTACCAACTGGATGCAATGGG -3'
Sequencing Primer
(F):5'- ATGGTCTCCTCTGTCAATTGGGAC -3'
(R):5'- CTGGATGCAATGGGGGATGAC -3'
|
Posted On |
2014-12-04 |