Incidental Mutation 'R8825:Trpm5'
| ID |
673388 |
| 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 |
068728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R8825 (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 142636753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 395
(K395E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000150867]
|
| AlphaFold |
Q9JJH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009390
AA Change: K395E
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: K395E
| 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 damaging
Transcript: ENSMUST00000150867
AA Change: K395E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: K395E
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap2 |
T |
A |
2: 91,103,906 (GRCm39) |
L334Q |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,436,951 (GRCm39) |
L247Q |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,920,500 (GRCm39) |
C2100S |
probably damaging |
Het |
| Bpi |
A |
G |
2: 158,109,670 (GRCm39) |
D206G |
probably benign |
Het |
| C6 |
T |
C |
15: 4,761,170 (GRCm39) |
I10T |
possibly damaging |
Het |
| Cactin |
A |
G |
10: 81,161,492 (GRCm39) |
T675A |
probably damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,157 (GRCm39) |
R165C |
probably benign |
Het |
| Cdkal1 |
C |
T |
13: 29,538,777 (GRCm39) |
V461I |
probably benign |
Het |
| Ces2g |
C |
T |
8: 105,693,954 (GRCm39) |
S430F |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,382,522 (GRCm39) |
H382Q |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,268,061 (GRCm39) |
V89E |
probably damaging |
Het |
| Crtc2 |
T |
A |
3: 90,166,463 (GRCm39) |
M146K |
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,521,316 (GRCm39) |
D374E |
possibly damaging |
Het |
| Dgkg |
T |
A |
16: 22,381,519 (GRCm39) |
H477L |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,343,174 (GRCm39) |
V1506D |
possibly damaging |
Het |
| Erfl |
A |
G |
7: 24,628,682 (GRCm39) |
V60A |
possibly damaging |
Het |
| Exosc10 |
G |
A |
4: 148,653,159 (GRCm39) |
|
probably null |
Het |
| Fem1al |
T |
C |
11: 29,773,696 (GRCm39) |
E587G |
probably benign |
Het |
| Flnb |
G |
T |
14: 7,887,566 (GRCm38) |
G459C |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,739,809 (GRCm39) |
D2757G |
probably benign |
Het |
| Gsta4 |
T |
G |
9: 78,116,121 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,700,626 (GRCm39) |
M1K |
probably null |
Het |
| Hip1 |
C |
T |
5: 135,450,976 (GRCm39) |
V879M |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,983,304 (GRCm39) |
Y968H |
probably benign |
Het |
| Ints11 |
T |
A |
4: 155,969,587 (GRCm39) |
Y154* |
probably null |
Het |
| Itih5 |
A |
G |
2: 10,195,231 (GRCm39) |
S208G |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,362,460 (GRCm39) |
T701I |
probably benign |
Het |
| Lgals3 |
T |
A |
14: 47,617,557 (GRCm39) |
Y22* |
probably null |
Het |
| Macc1 |
T |
A |
12: 119,409,587 (GRCm39) |
D118E |
probably benign |
Het |
| Mad2l2 |
T |
C |
4: 148,225,277 (GRCm39) |
L9P |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,318,571 (GRCm39) |
T6A |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,436,812 (GRCm39) |
N143S |
probably benign |
Het |
| Med10 |
T |
G |
13: 69,962,046 (GRCm39) |
C144G |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,982,460 (GRCm39) |
F539I |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,849,776 (GRCm39) |
S1174T |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,466,871 (GRCm39) |
W1330C |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,892,169 (GRCm39) |
S1612P |
possibly damaging |
Het |
| Nipal4 |
T |
C |
11: 46,052,873 (GRCm39) |
I31V |
probably benign |
Het |
| Obox3 |
A |
T |
7: 15,361,226 (GRCm39) |
V13E |
possibly damaging |
Het |
| Or2ag19 |
A |
T |
7: 106,444,636 (GRCm39) |
I273F |
probably damaging |
Het |
| Or8g4 |
T |
C |
9: 39,661,994 (GRCm39) |
F104S |
probably damaging |
Het |
| Ppic |
A |
G |
18: 53,542,222 (GRCm39) |
V162A |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,090,043 (GRCm39) |
K699R |
probably benign |
Het |
| Prl2c2 |
T |
A |
13: 13,179,656 (GRCm39) |
L6F |
possibly damaging |
Het |
| Rnf148 |
G |
C |
6: 23,654,378 (GRCm39) |
S206C |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,313,586 (GRCm39) |
S474P |
|
Het |
| Sema5a |
T |
G |
15: 32,689,498 (GRCm39) |
H1054Q |
probably benign |
Het |
| Slc6a18 |
C |
A |
13: 73,813,751 (GRCm39) |
V521F |
probably null |
Het |
| Stat2 |
T |
A |
10: 128,127,233 (GRCm39) |
D921E |
possibly damaging |
Het |
| Tcf24 |
G |
T |
1: 10,031,224 (GRCm39) |
N42K |
unknown |
Het |
| Tgfb2 |
T |
A |
1: 186,361,136 (GRCm39) |
N372Y |
probably damaging |
Het |
| Tktl2 |
A |
C |
8: 66,966,319 (GRCm39) |
M626L |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,688,201 (GRCm39) |
D1220G |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,148,754 (GRCm39) |
T109A |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,060,529 (GRCm39) |
K416* |
probably null |
Het |
| Ufm1 |
T |
A |
3: 53,771,093 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
A |
4: 43,237,683 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,487,019 (GRCm39) |
V80A |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,855 (GRCm39) |
Y524F |
probably benign |
Het |
| Zfp1007 |
T |
G |
5: 109,826,746 (GRCm39) |
T5P |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,552 (GRCm39) |
S65G |
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,926,601 (GRCm39) |
V150A |
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 |
|
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 |
|
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'- AAGTCTTTGAGTACGCGGG -3'
(R):5'- TCTTATCCCTGGCACCTGAG -3'
Sequencing Primer
(F):5'- AGACCAATGGGCAGCTCC -3'
(R):5'- TGAGGCCAGCATGCTCTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation