Incidental Mutation 'R9577:Trpm5'
| ID |
722361 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R9577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 142633131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000150867]
|
| AlphaFold |
Q9JJH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000009390
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
| 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: ENSMUST00000148715
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
G |
T |
18: 24,608,663 (GRCm39) |
A128S |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,810,768 (GRCm39) |
Y116H |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Ankar |
C |
A |
1: 72,721,067 (GRCm39) |
V464L |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,769,060 (GRCm39) |
I1526N |
probably damaging |
Het |
| Atad5 |
T |
A |
11: 80,004,996 (GRCm39) |
N1144K |
probably damaging |
Het |
| B3gntl1 |
T |
C |
11: 121,515,040 (GRCm39) |
T243A |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,809,031 (GRCm39) |
T73A |
probably benign |
Het |
| Bnip5 |
A |
T |
17: 29,128,382 (GRCm39) |
I177K |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,906,876 (GRCm39) |
S148G |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,603,335 (GRCm39) |
D332G |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,242,344 (GRCm39) |
T531S |
probably damaging |
Het |
| Ccdc71 |
C |
T |
9: 108,340,472 (GRCm39) |
A95V |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,146,895 (GRCm39) |
V2787A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,752,964 (GRCm39) |
E487G |
unknown |
Het |
| Col22a1 |
T |
C |
15: 71,837,595 (GRCm39) |
K505R |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 139,018,196 (GRCm39) |
V180A |
|
Het |
| Dmxl2 |
A |
G |
9: 54,323,664 (GRCm39) |
V1066A |
unknown |
Het |
| Dnah9 |
C |
T |
11: 65,867,347 (GRCm39) |
V2744M |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,376,439 (GRCm39) |
R384L |
possibly damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,907,743 (GRCm39) |
Y134* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,194,470 (GRCm39) |
P57S |
unknown |
Het |
| Gm6309 |
T |
C |
5: 146,105,700 (GRCm39) |
R155G |
possibly damaging |
Het |
| Gnpda1 |
T |
C |
18: 38,463,605 (GRCm39) |
T235A |
probably benign |
Het |
| Gsdmc2 |
T |
A |
15: 63,696,906 (GRCm39) |
I422F |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,502,798 (GRCm39) |
V256A |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
C |
1: 136,399,138 (GRCm39) |
V433A |
probably benign |
Het |
| Kif3a |
T |
C |
11: 53,475,231 (GRCm39) |
F363S |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,467,490 (GRCm39) |
D186G |
probably damaging |
Het |
| Lmntd2 |
T |
C |
7: 140,790,990 (GRCm39) |
T448A |
probably benign |
Het |
| Magi2 |
C |
T |
5: 20,814,282 (GRCm39) |
A898V |
probably damaging |
Het |
| Mri1 |
A |
G |
8: 84,982,929 (GRCm39) |
V164A |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
| Nxpe2 |
G |
A |
9: 48,237,632 (GRCm39) |
R208* |
probably null |
Het |
| Or1j1 |
C |
A |
2: 36,702,567 (GRCm39) |
C179F |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,737 (GRCm39) |
V77A |
possibly damaging |
Het |
| Pcdha12 |
C |
T |
18: 37,155,126 (GRCm39) |
A615V |
probably benign |
Het |
| Pou4f3 |
C |
G |
18: 42,528,563 (GRCm39) |
P169A |
probably benign |
Het |
| Pramel52-ps |
A |
T |
5: 94,531,805 (GRCm39) |
R230* |
probably null |
Het |
| Prss36 |
T |
C |
7: 127,533,673 (GRCm39) |
I556V |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,346,067 (GRCm39) |
D209E |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,676,675 (GRCm39) |
D679E |
probably damaging |
Het |
| Ptprz1 |
G |
T |
6: 23,002,202 (GRCm39) |
D1431Y |
probably damaging |
Het |
| Sdccag8 |
T |
A |
1: 176,658,629 (GRCm39) |
L143M |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,357,612 (GRCm39) |
Q721R |
probably benign |
Het |
| Spdye4b |
A |
G |
5: 143,182,055 (GRCm39) |
M118V |
probably damaging |
Het |
| Tbc1d1 |
T |
A |
5: 64,473,699 (GRCm39) |
S741T |
possibly damaging |
Het |
| Tbx18 |
A |
G |
9: 87,611,512 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
C |
2: 153,037,294 (GRCm39) |
F385S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,954,432 (GRCm39) |
L1133* |
probably null |
Het |
| Ube4b |
A |
G |
4: 149,468,231 (GRCm39) |
S182P |
possibly damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,228,784 (GRCm39) |
T420A |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Zc3h6 |
T |
A |
2: 128,858,102 (GRCm39) |
I711K |
|
Het |
| Zer1 |
T |
C |
2: 29,991,050 (GRCm39) |
Y726C |
probably damaging |
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 |
|
R8825:Trpm5
|
UTSW |
7 |
142,636,753 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9443:Trpm5
|
UTSW |
7 |
142,638,860 (GRCm39) |
missense |
probably benign |
|
|
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'- GTGAACACCATGAAGTCAATGG -3'
(R):5'- ACCCTGGTCTCAGCAAGAAAG -3'
Sequencing Primer
(F):5'- TCAATGGCCAGAACGGTC -3'
(R):5'- AGACACGGTGCTGCAAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation