Incidental Mutation 'R4811:Trpm5'
ID |
369432 |
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 |
042430-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R4811 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142633956 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 750
(Y750C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114302
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000150867]
|
AlphaFold |
Q9JJH7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009390
AA Change: Y750C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000009390 Gene: ENSMUSG00000009246 AA Change: Y750C
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: ENSMUST00000133027
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150589
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150867
AA Change: Y750C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114302 Gene: ENSMUSG00000009246 AA Change: Y750C
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
G |
A |
15: 37,425,952 (GRCm39) |
|
probably benign |
Het |
Adam3 |
C |
T |
8: 25,201,740 (GRCm39) |
G208R |
probably benign |
Het |
Arsg |
G |
T |
11: 109,424,898 (GRCm39) |
V290L |
probably benign |
Het |
Cad |
A |
G |
5: 31,232,034 (GRCm39) |
T104A |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,928,020 (GRCm39) |
N1185S |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,226,877 (GRCm39) |
T113A |
probably benign |
Het |
Crocc2 |
G |
A |
1: 93,133,618 (GRCm39) |
A967T |
probably damaging |
Het |
Cyp4f16 |
A |
G |
17: 32,764,080 (GRCm39) |
T291A |
probably benign |
Het |
Dcc |
T |
A |
18: 71,432,554 (GRCm39) |
H1300L |
probably benign |
Het |
Ddx23 |
T |
A |
15: 98,545,352 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
T |
G |
7: 105,363,488 (GRCm39) |
S4017A |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,293,703 (GRCm39) |
F729L |
probably damaging |
Het |
Ercc6 |
G |
T |
14: 32,296,886 (GRCm39) |
R1292L |
probably benign |
Het |
Fam186b |
C |
T |
15: 99,178,118 (GRCm39) |
V403M |
probably benign |
Het |
Fam227a |
T |
C |
15: 79,499,628 (GRCm39) |
N576D |
possibly damaging |
Het |
Fbln1 |
A |
G |
15: 85,111,167 (GRCm39) |
|
probably null |
Het |
Fbxw17 |
T |
C |
13: 50,579,669 (GRCm39) |
V162A |
probably benign |
Het |
Gas2l1 |
A |
C |
11: 5,014,436 (GRCm39) |
I8S |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,711,781 (GRCm39) |
L195P |
probably damaging |
Het |
Gps2 |
A |
T |
11: 69,806,754 (GRCm39) |
H233L |
probably damaging |
Het |
Guf1 |
T |
G |
5: 69,721,852 (GRCm39) |
|
probably null |
Het |
H2-T9 |
A |
G |
17: 36,438,668 (GRCm39) |
L241S |
probably damaging |
Het |
Il1rap |
T |
A |
16: 26,519,988 (GRCm39) |
|
probably null |
Het |
Ints14 |
A |
G |
9: 64,871,800 (GRCm39) |
Y46C |
probably damaging |
Het |
Kalrn |
T |
G |
16: 34,177,339 (GRCm39) |
Q293H |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,687,043 (GRCm39) |
L593P |
probably damaging |
Het |
Krt19 |
T |
C |
11: 100,032,174 (GRCm39) |
T297A |
possibly damaging |
Het |
Lcp1 |
T |
C |
14: 75,437,848 (GRCm39) |
V86A |
probably damaging |
Het |
Lins1 |
T |
A |
7: 66,357,898 (GRCm39) |
I11K |
probably benign |
Het |
Lrba |
T |
C |
3: 86,683,448 (GRCm39) |
F2757L |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,951,685 (GRCm39) |
I3762T |
probably benign |
Het |
Lyzl6 |
A |
G |
11: 103,525,851 (GRCm39) |
S90P |
possibly damaging |
Het |
Mfsd2a |
T |
A |
4: 122,853,175 (GRCm39) |
Q38L |
probably benign |
Het |
Mtss1 |
A |
G |
15: 58,815,922 (GRCm39) |
F546S |
probably damaging |
Het |
Myo5a |
G |
A |
9: 75,048,825 (GRCm39) |
|
probably null |
Het |
Naip6 |
C |
A |
13: 100,422,299 (GRCm39) |
G1245W |
probably damaging |
Het |
Ndfip1 |
C |
T |
18: 38,584,645 (GRCm39) |
T107I |
probably benign |
Het |
Nek8 |
C |
T |
11: 78,058,544 (GRCm39) |
|
probably null |
Het |
Nphs1 |
T |
C |
7: 30,159,854 (GRCm39) |
V55A |
probably damaging |
Het |
Nrp2 |
C |
A |
1: 62,758,240 (GRCm39) |
H75Q |
probably damaging |
Het |
Oas1e |
C |
T |
5: 120,933,448 (GRCm39) |
S39N |
probably damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,166 (GRCm39) |
T52A |
probably benign |
Het |
Or2y1e |
T |
G |
11: 49,218,575 (GRCm39) |
S112R |
possibly damaging |
Het |
Or5d37 |
A |
G |
2: 87,923,876 (GRCm39) |
F135L |
probably benign |
Het |
Or7h8 |
A |
T |
9: 20,124,049 (GRCm39) |
I135F |
probably damaging |
Het |
Pan3 |
T |
A |
5: 147,466,868 (GRCm39) |
H632Q |
probably damaging |
Het |
Paqr3 |
A |
C |
5: 97,243,842 (GRCm39) |
S291A |
probably benign |
Het |
Pcdh17 |
A |
C |
14: 84,685,375 (GRCm39) |
D614A |
probably damaging |
Het |
Pcyox1l |
T |
C |
18: 61,830,606 (GRCm39) |
E422G |
possibly damaging |
Het |
Pgr |
G |
T |
9: 8,900,844 (GRCm39) |
E126* |
probably null |
Het |
Pik3ap1 |
A |
G |
19: 41,290,936 (GRCm39) |
V532A |
possibly damaging |
Het |
Pla2g4c |
T |
C |
7: 13,071,738 (GRCm39) |
I186T |
probably damaging |
Het |
Pnkd |
G |
A |
1: 74,388,564 (GRCm39) |
|
probably null |
Het |
Poc1a |
A |
G |
9: 106,226,908 (GRCm39) |
T334A |
probably damaging |
Het |
Pou2f2 |
T |
A |
7: 24,797,111 (GRCm39) |
K211* |
probably null |
Het |
Rdh13 |
T |
C |
7: 4,445,652 (GRCm39) |
E94G |
probably benign |
Het |
Rnf186 |
A |
G |
4: 138,694,498 (GRCm39) |
S13G |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,670,584 (GRCm39) |
R3471G |
probably damaging |
Het |
Sbf2 |
T |
C |
7: 109,971,742 (GRCm39) |
T831A |
probably damaging |
Het |
Sh3gl2 |
A |
G |
4: 85,316,403 (GRCm39) |
|
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,082,404 (GRCm39) |
N408S |
probably benign |
Het |
Snn |
T |
C |
16: 10,890,397 (GRCm39) |
V72A |
probably benign |
Het |
Sys1 |
T |
A |
2: 164,306,344 (GRCm39) |
H99Q |
possibly damaging |
Het |
Syt7 |
A |
G |
19: 10,412,931 (GRCm39) |
K122R |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,396,311 (GRCm39) |
L550Q |
probably damaging |
Het |
Tent5b |
T |
C |
4: 133,213,681 (GRCm39) |
L184P |
probably benign |
Het |
Thoc1 |
T |
C |
18: 9,993,438 (GRCm39) |
I599T |
probably damaging |
Het |
Tle3 |
C |
T |
9: 61,281,279 (GRCm39) |
|
probably benign |
Het |
Tll1 |
A |
C |
8: 64,538,507 (GRCm39) |
V379G |
possibly damaging |
Het |
Tnfrsf21 |
G |
A |
17: 43,348,621 (GRCm39) |
E78K |
probably benign |
Het |
Tpgs2 |
A |
G |
18: 25,262,897 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,858,054 (GRCm39) |
L165P |
probably damaging |
Het |
Ttbk2 |
A |
C |
2: 120,570,551 (GRCm39) |
S1201A |
possibly damaging |
Het |
Ust |
T |
A |
10: 8,121,705 (GRCm39) |
H301L |
probably damaging |
Het |
Vwa5a |
T |
C |
9: 38,647,249 (GRCm39) |
F543L |
probably benign |
Het |
Yeats2 |
T |
A |
16: 19,971,645 (GRCm39) |
|
probably null |
Het |
Zfp85 |
T |
C |
13: 67,897,745 (GRCm39) |
Y109C |
probably damaging |
Het |
Zfr2 |
T |
A |
10: 81,079,547 (GRCm39) |
V362E |
probably benign |
Het |
Znrf3 |
A |
T |
11: 5,237,420 (GRCm39) |
C134S |
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 |
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'- CACACAGTGGTCTTGTTCTAATGG -3'
(R):5'- TGACCTCTGCACTCACACAG -3'
Sequencing Primer
(F):5'- TGGATTAAAAAGTCCTACCTCCC -3'
(R):5'- TCTGCACTCACACAGATTGGAG -3'
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Posted On |
2016-02-04 |