Incidental Mutation 'R7961:Trpm5'
| ID |
650118 |
| 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 |
046005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R7961 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142634106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 700
(E700G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000150867]
|
| AlphaFold |
Q9JJH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009390
AA Change: E700G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: E700G
| 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: ENSMUST00000150867
AA Change: E700G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: E700G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (44/47) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,878,870 (GRCm39) |
N751K |
possibly damaging |
Het |
| Bckdha |
G |
A |
7: 25,330,903 (GRCm39) |
R288W |
probably damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,096 (GRCm39) |
H229Y |
probably benign |
Het |
| Cenpn |
C |
A |
8: 117,663,976 (GRCm39) |
T256N |
probably benign |
Het |
| Ciart |
A |
G |
3: 95,788,629 (GRCm39) |
V70A |
possibly damaging |
Het |
| Clcc1 |
A |
G |
3: 108,568,774 (GRCm39) |
N36S |
probably damaging |
Het |
| Cntnap1 |
G |
A |
11: 101,069,121 (GRCm39) |
A192T |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,588,272 (GRCm39) |
V37A |
possibly damaging |
Het |
| Dock1 |
T |
A |
7: 134,346,786 (GRCm39) |
D239E |
possibly damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,063,995 (GRCm39) |
|
probably null |
Het |
| Engase |
A |
G |
11: 118,377,686 (GRCm39) |
D571G |
possibly damaging |
Het |
| Gm45871 |
C |
T |
18: 90,609,883 (GRCm39) |
H374Y |
probably damaging |
Het |
| Icam5 |
T |
C |
9: 20,950,051 (GRCm39) |
V870A |
possibly damaging |
Het |
| Idh2 |
T |
C |
7: 79,748,001 (GRCm39) |
H233R |
probably benign |
Het |
| Kcna5 |
A |
G |
6: 126,510,517 (GRCm39) |
L537P |
probably benign |
Het |
| Krt71 |
T |
C |
15: 101,643,877 (GRCm39) |
I454V |
probably damaging |
Het |
| Krtap5-4 |
C |
T |
7: 141,857,671 (GRCm39) |
Q114* |
probably null |
Het |
| Loxl3 |
T |
C |
6: 83,027,790 (GRCm39) |
F734S |
possibly damaging |
Het |
| Lpcat1 |
C |
T |
13: 73,659,498 (GRCm39) |
T420I |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,206,425 (GRCm39) |
|
probably null |
Het |
| Neurod4 |
A |
T |
10: 130,106,356 (GRCm39) |
V306D |
possibly damaging |
Het |
| Nkiras2 |
A |
T |
11: 100,510,628 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,103,076 (GRCm39) |
D408V |
probably benign |
Het |
| Nubpl |
T |
A |
12: 52,228,080 (GRCm39) |
L168* |
probably null |
Het |
| Odf1 |
A |
G |
15: 38,226,840 (GRCm39) |
I247V |
unknown |
Het |
| Or4c35 |
A |
G |
2: 89,808,131 (GRCm39) |
Q3R |
probably benign |
Het |
| Or4k48 |
G |
A |
2: 111,476,282 (GRCm39) |
S20F |
probably damaging |
Het |
| Or5d41 |
C |
A |
2: 88,055,033 (GRCm39) |
M114I |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,958 (GRCm39) |
S516P |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,294,293 (GRCm39) |
D1411G |
probably damaging |
Het |
| Polm |
T |
C |
11: 5,780,155 (GRCm39) |
D294G |
possibly damaging |
Het |
| Ppcs |
A |
T |
4: 119,276,262 (GRCm39) |
S281T |
probably benign |
Het |
| Pramel34 |
T |
C |
5: 93,784,543 (GRCm39) |
D307G |
probably damaging |
Het |
| Pspc1 |
G |
A |
14: 57,009,304 (GRCm39) |
Q177* |
probably null |
Het |
| Rbm33 |
G |
A |
5: 28,599,606 (GRCm39) |
G185R |
|
Het |
| Satb2 |
A |
G |
1: 56,910,917 (GRCm39) |
S243P |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,797,699 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,430,510 (GRCm39) |
T292A |
probably damaging |
Het |
| Smad3 |
G |
A |
9: 63,557,564 (GRCm39) |
R420C |
possibly damaging |
Het |
| Sntg1 |
C |
T |
1: 8,433,794 (GRCm39) |
V486I |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,061,687 (GRCm39) |
S2610P |
possibly damaging |
Het |
| Tmem200a |
A |
G |
10: 25,869,904 (GRCm39) |
S122P |
probably damaging |
Het |
| Tnks2 |
T |
A |
19: 36,829,901 (GRCm39) |
M194K |
probably benign |
Het |
| Trav14d-3-dv8 |
A |
C |
14: 53,316,224 (GRCm39) |
Q28P |
probably damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,791,797 (GRCm39) |
I98L |
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,856,150 (GRCm39) |
I248V |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,178 (GRCm39) |
V7A |
probably benign |
Het |
| Zfp60 |
G |
A |
7: 27,447,881 (GRCm39) |
G183D |
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 |
|
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 |
|
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'- TCCAGCACCAGTGTGAACAC -3'
(R):5'- TGGCCAGTAAGGAGTAGCTG -3'
Sequencing Primer
(F):5'- TAACCTCGGATCCAGACGG -3'
(R):5'- CCTGGAAAGATAGAGCACAGAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation