Incidental Mutation 'R7774:Trpm8'
| ID |
598740 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpm8
|
| Ensembl Gene |
ENSMUSG00000036251 |
| Gene Name |
transient receptor potential cation channel, subfamily M, member 8 |
| Synonyms |
Trp-p8, TRPP8, CMR1 |
| MMRRC Submission |
045830-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
R7774 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88258563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 282
(E282V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040210]
[ENSMUST00000113114]
[ENSMUST00000171176]
|
| AlphaFold |
Q8R4D5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040210
AA Change: E282V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: E282V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
693 |
712 |
N/A |
INTRINSIC |
|
transmembrane domain
|
724 |
758 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
769 |
979 |
4.7e-10 |
PFAM |
|
low complexity region
|
1026 |
1036 |
N/A |
INTRINSIC |
|
coiled coil region
|
1069 |
1104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113114
AA Change: E282V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: E282V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
693 |
712 |
N/A |
INTRINSIC |
|
transmembrane domain
|
724 |
758 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
769 |
979 |
4.7e-10 |
PFAM |
|
low complexity region
|
1026 |
1036 |
N/A |
INTRINSIC |
|
coiled coil region
|
1069 |
1104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171176
AA Change: E282V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: E282V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
693 |
712 |
N/A |
INTRINSIC |
|
transmembrane domain
|
724 |
758 |
N/A |
INTRINSIC |
|
transmembrane domain
|
763 |
780 |
N/A |
INTRINSIC |
|
transmembrane domain
|
793 |
815 |
N/A |
INTRINSIC |
|
transmembrane domain
|
825 |
847 |
N/A |
INTRINSIC |
|
transmembrane domain
|
867 |
889 |
N/A |
INTRINSIC |
|
transmembrane domain
|
954 |
976 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1036 |
N/A |
INTRINSIC |
|
coiled coil region
|
1069 |
1104 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to cold and reduced response to cold stimuli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
T |
15: 98,494,414 (GRCm39) |
T809N |
probably benign |
Het |
| Adgb |
C |
A |
10: 10,215,404 (GRCm39) |
E1561* |
probably null |
Het |
| Adgra1 |
A |
T |
7: 139,427,628 (GRCm39) |
H65L |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,688,103 (GRCm39) |
G856V |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,754,161 (GRCm39) |
K177E |
unknown |
Het |
| Ccdc122 |
T |
C |
14: 77,305,379 (GRCm39) |
V11A |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,677,804 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
T |
C |
10: 76,545,710 (GRCm39) |
T921A |
unknown |
Het |
| Cul3 |
A |
C |
1: 80,247,011 (GRCm39) |
D697E |
probably benign |
Het |
| Defa34 |
G |
A |
8: 22,155,978 (GRCm39) |
E56K |
probably benign |
Het |
| Dhrs7c |
A |
G |
11: 67,700,641 (GRCm39) |
R63G |
probably damaging |
Het |
| Dnaaf11 |
T |
G |
15: 66,321,401 (GRCm39) |
I247L |
probably benign |
Het |
| Dnah3 |
T |
A |
7: 119,550,975 (GRCm39) |
K136* |
probably null |
Het |
| Exoc7 |
T |
C |
11: 116,186,142 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxw21 |
T |
C |
9: 108,972,908 (GRCm39) |
Y342C |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,311,986 (GRCm39) |
I76F |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,240,727 (GRCm39) |
I1291N |
probably benign |
Het |
| Fzd2 |
A |
T |
11: 102,496,314 (GRCm39) |
I253F |
possibly damaging |
Het |
| Gm5592 |
A |
T |
7: 40,939,283 (GRCm39) |
Y855F |
probably damaging |
Het |
| H1f6 |
A |
G |
13: 23,880,183 (GRCm39) |
K112R |
possibly damaging |
Het |
| H4c16 |
G |
T |
6: 136,781,281 (GRCm39) |
P33T |
possibly damaging |
Het |
| Helz2 |
T |
C |
2: 180,875,784 (GRCm39) |
Y1570C |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,970,140 (GRCm39) |
T228A |
probably benign |
Het |
| Ipo13 |
G |
T |
4: 117,771,494 (GRCm39) |
N25K |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,700,968 (GRCm39) |
I917N |
probably damaging |
Het |
| Krt39 |
T |
C |
11: 99,405,437 (GRCm39) |
|
probably null |
Het |
| Krtap13-1 |
C |
T |
16: 88,526,061 (GRCm39) |
T95I |
possibly damaging |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,863 (GRCm39) |
E107* |
probably null |
Het |
| Ly6a |
A |
T |
15: 74,869,416 (GRCm39) |
I13N |
probably damaging |
Het |
| Mfsd4b4 |
T |
C |
10: 39,768,407 (GRCm39) |
T275A |
probably benign |
Het |
| Mgat3 |
C |
T |
15: 80,095,743 (GRCm39) |
T190M |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,396,116 (GRCm39) |
R124H |
unknown |
Het |
| Mucl1 |
G |
T |
15: 103,783,950 (GRCm39) |
N85K |
possibly damaging |
Het |
| Nifk |
G |
A |
1: 118,255,391 (GRCm39) |
E96K |
possibly damaging |
Het |
| Opn3 |
C |
T |
1: 175,490,471 (GRCm39) |
V397M |
probably damaging |
Het |
| Or52ad1 |
T |
C |
7: 102,995,737 (GRCm39) |
R133G |
possibly damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,739 (GRCm39) |
F251I |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,655 (GRCm39) |
V274A |
probably damaging |
Het |
| Pcdha2 |
A |
G |
18: 37,074,579 (GRCm39) |
M737V |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,492,757 (GRCm39) |
D98V |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,404,303 (GRCm39) |
T2311A |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,360,802 (GRCm39) |
C195* |
probably null |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Pramel23 |
C |
T |
4: 143,423,676 (GRCm39) |
S371N |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,530 (GRCm39) |
T1166A |
probably damaging |
Het |
| Ran |
G |
A |
5: 129,099,874 (GRCm39) |
D215N |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,318,309 (GRCm39) |
F604L |
possibly damaging |
Het |
| Rgl1 |
T |
A |
1: 152,430,101 (GRCm39) |
E227D |
probably benign |
Het |
| Sec24b |
C |
A |
3: 129,777,846 (GRCm39) |
R1204L |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,098,348 (GRCm39) |
L1276P |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,084,814 (GRCm39) |
M820K |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,092,142 (GRCm39) |
M541K |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,440,847 (GRCm39) |
V351A |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,899,606 (GRCm39) |
D658G |
probably benign |
Het |
| Tlr6 |
T |
G |
5: 65,110,728 (GRCm39) |
E726D |
probably damaging |
Het |
| Tmem218 |
T |
A |
9: 37,133,864 (GRCm39) |
H101Q |
probably benign |
Het |
| Tnfrsf4 |
C |
T |
4: 156,098,795 (GRCm39) |
Q82* |
probably null |
Het |
| Trpm7 |
A |
G |
2: 126,655,158 (GRCm39) |
V1260A |
probably benign |
Het |
| Tuba8 |
T |
C |
6: 121,200,348 (GRCm39) |
V344A |
probably damaging |
Het |
| Tvp23a |
A |
G |
16: 10,245,245 (GRCm39) |
|
probably null |
Het |
| Zfp174 |
G |
A |
16: 3,667,215 (GRCm39) |
V135M |
probably damaging |
Het |
| Zfp418 |
G |
A |
7: 7,185,776 (GRCm39) |
V580I |
possibly damaging |
Het |
| Zfp451 |
T |
A |
1: 33,844,474 (GRCm39) |
E44D |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,978,838 (GRCm39) |
D525G |
probably benign |
Het |
|
| Other mutations in Trpm8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00963:Trpm8
|
APN |
1 |
88,307,549 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01387:Trpm8
|
APN |
1 |
88,271,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01933:Trpm8
|
APN |
1 |
88,254,127 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02075:Trpm8
|
APN |
1 |
88,253,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02184:Trpm8
|
APN |
1 |
88,258,416 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02342:Trpm8
|
APN |
1 |
88,255,972 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02416:Trpm8
|
APN |
1 |
88,288,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Trpm8
|
APN |
1 |
88,275,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02807:Trpm8
|
APN |
1 |
88,275,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Trpm8
|
UTSW |
1 |
88,255,870 (GRCm39) |
splice site |
probably benign |
|
|
R1183:Trpm8
|
UTSW |
1 |
88,275,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Trpm8
|
UTSW |
1 |
88,254,154 (GRCm39) |
missense |
probably benign |
|
|
R1713:Trpm8
|
UTSW |
1 |
88,292,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1724:Trpm8
|
UTSW |
1 |
88,278,578 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1966:Trpm8
|
UTSW |
1 |
88,260,470 (GRCm39) |
splice site |
probably null |
|
|
R2089:Trpm8
|
UTSW |
1 |
88,271,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2091:Trpm8
|
UTSW |
1 |
88,271,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2091:Trpm8
|
UTSW |
1 |
88,271,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2384:Trpm8
|
UTSW |
1 |
88,287,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2475:Trpm8
|
UTSW |
1 |
88,282,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3726:Trpm8
|
UTSW |
1 |
88,255,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3745:Trpm8
|
UTSW |
1 |
88,276,049 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4063:Trpm8
|
UTSW |
1 |
88,289,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Trpm8
|
UTSW |
1 |
88,264,851 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4681:Trpm8
|
UTSW |
1 |
88,312,427 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5031:Trpm8
|
UTSW |
1 |
88,275,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5620:Trpm8
|
UTSW |
1 |
88,287,373 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5644:Trpm8
|
UTSW |
1 |
88,287,461 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5734:Trpm8
|
UTSW |
1 |
88,283,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5839:Trpm8
|
UTSW |
1 |
88,253,228 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5844:Trpm8
|
UTSW |
1 |
88,312,433 (GRCm39) |
makesense |
probably null |
|
|
R5845:Trpm8
|
UTSW |
1 |
88,255,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5926:Trpm8
|
UTSW |
1 |
88,258,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5940:Trpm8
|
UTSW |
1 |
88,279,137 (GRCm39) |
nonsense |
probably null |
|
|
R6031:Trpm8
|
UTSW |
1 |
88,282,191 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6031:Trpm8
|
UTSW |
1 |
88,282,191 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6088:Trpm8
|
UTSW |
1 |
88,234,400 (GRCm39) |
start gained |
probably benign |
|
|
R6283:Trpm8
|
UTSW |
1 |
88,276,054 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6299:Trpm8
|
UTSW |
1 |
88,282,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6367:Trpm8
|
UTSW |
1 |
88,287,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Trpm8
|
UTSW |
1 |
88,289,720 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6682:Trpm8
|
UTSW |
1 |
88,254,224 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6751:Trpm8
|
UTSW |
1 |
88,312,428 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7057:Trpm8
|
UTSW |
1 |
88,289,802 (GRCm39) |
missense |
probably null |
0.99 |
|
R7489:Trpm8
|
UTSW |
1 |
88,307,481 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7520:Trpm8
|
UTSW |
1 |
88,271,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7597:Trpm8
|
UTSW |
1 |
88,255,918 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7839:Trpm8
|
UTSW |
1 |
88,254,176 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7948:Trpm8
|
UTSW |
1 |
88,302,091 (GRCm39) |
nonsense |
probably null |
|
|
R8176:Trpm8
|
UTSW |
1 |
88,292,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8222:Trpm8
|
UTSW |
1 |
88,253,390 (GRCm39) |
splice site |
probably null |
|
|
R8946:Trpm8
|
UTSW |
1 |
88,276,061 (GRCm39) |
splice site |
probably benign |
|
|
R9121:Trpm8
|
UTSW |
1 |
88,312,423 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9290:Trpm8
|
UTSW |
1 |
88,246,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Trpm8
|
UTSW |
1 |
88,254,158 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAGTACGTGTCCCTGTG -3'
(R):5'- TTCTGCAGCAGAGGCACTTC -3'
Sequencing Primer
(F):5'- GCCTTGCAGGGACATTTTTCAG -3'
(R):5'- ATTCTGCAGCAGAGGCACTTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation