Incidental Mutation 'IGL02342:Trpm8'
| ID |
289149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trpm8
|
| Ensembl Gene |
ENSMUSG00000036251 |
| Gene Name |
transient receptor potential cation channel, subfamily M, member 8 |
| Synonyms |
Trp-p8, TRPP8, CMR1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
IGL02342
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88255972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 209
(I209T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040210]
[ENSMUST00000113114]
[ENSMUST00000171176]
|
| AlphaFold |
Q8R4D5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040210
AA Change: I209T
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: I209T
| 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 |
possibly damaging
Transcript: ENSMUST00000113114
AA Change: I209T
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: I209T
| 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 |
possibly damaging
Transcript: ENSMUST00000171176
AA Change: I209T
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: I209T
| 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 |
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
C |
A |
10: 43,050,997 (GRCm39) |
P97Q |
probably damaging |
Het |
| Abcb10 |
A |
T |
8: 124,688,773 (GRCm39) |
V501E |
probably damaging |
Het |
| Acsf3 |
T |
C |
8: 123,544,237 (GRCm39) |
Y572H |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,839,332 (GRCm39) |
|
probably null |
Het |
| Alox8 |
A |
G |
11: 69,077,053 (GRCm39) |
L480P |
probably damaging |
Het |
| Arhgap35 |
G |
A |
7: 16,296,305 (GRCm39) |
T920I |
probably benign |
Het |
| Brca2 |
C |
A |
5: 150,466,289 (GRCm39) |
L2018M |
possibly damaging |
Het |
| Brdt |
C |
A |
5: 107,490,069 (GRCm39) |
H45N |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,609,075 (GRCm39) |
F155L |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,640,562 (GRCm39) |
|
probably benign |
Het |
| Cd8a |
T |
A |
6: 71,350,723 (GRCm39) |
C63S |
probably damaging |
Het |
| Clk2 |
A |
T |
3: 89,082,998 (GRCm39) |
T424S |
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,143,898 (GRCm39) |
E287G |
probably benign |
Het |
| Cobl |
A |
C |
11: 12,203,672 (GRCm39) |
V928G |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,557,178 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
T |
2: 145,766,633 (GRCm39) |
|
probably null |
Het |
| Defb26 |
T |
C |
2: 152,350,121 (GRCm39) |
N53S |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,177,793 (GRCm39) |
T1526S |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,142,246 (GRCm39) |
L1233P |
probably damaging |
Het |
| Eif5a2 |
A |
G |
3: 28,847,910 (GRCm39) |
E116G |
possibly damaging |
Het |
| Garin1b |
A |
G |
6: 29,323,829 (GRCm39) |
T185A |
possibly damaging |
Het |
| Gdap2 |
G |
A |
3: 100,085,632 (GRCm39) |
A185T |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,363,803 (GRCm39) |
R571G |
probably benign |
Het |
| Hjv |
G |
A |
3: 96,435,488 (GRCm39) |
D249N |
possibly damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,531,603 (GRCm39) |
|
probably null |
Het |
| Ift70a1 |
G |
T |
2: 75,810,976 (GRCm39) |
T369K |
probably benign |
Het |
| Ighv1-75 |
T |
G |
12: 115,797,878 (GRCm39) |
|
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,650,216 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
A |
G |
2: 79,490,629 (GRCm39) |
N943S |
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,374,860 (GRCm39) |
W333R |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,624,533 (GRCm39) |
N1426I |
probably damaging |
Het |
| Lmbrd1 |
A |
G |
1: 24,743,959 (GRCm39) |
Y119C |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 77,172,976 (GRCm39) |
Y884C |
probably damaging |
Het |
| Naip6 |
G |
T |
13: 100,439,748 (GRCm39) |
P340T |
possibly damaging |
Het |
| Nfkbib |
G |
T |
7: 28,461,528 (GRCm39) |
H70N |
probably damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,926 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
T |
11: 58,891,914 (GRCm39) |
A6873T |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,313,232 (GRCm39) |
S219P |
probably benign |
Het |
| Or51b4 |
T |
A |
7: 103,530,587 (GRCm39) |
I288F |
probably benign |
Het |
| Or6x1 |
T |
A |
9: 40,098,823 (GRCm39) |
N137K |
probably benign |
Het |
| Paqr6 |
A |
G |
3: 88,273,491 (GRCm39) |
Y136C |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,493 (GRCm39) |
D274V |
probably damaging |
Het |
| Phip |
A |
G |
9: 82,768,745 (GRCm39) |
Y1196H |
probably damaging |
Het |
| Prc1 |
T |
C |
7: 79,959,190 (GRCm39) |
L345S |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,685,276 (GRCm39) |
|
probably benign |
Het |
| Tac1 |
G |
T |
6: 7,559,119 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,198,624 (GRCm39) |
S1319T |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,636,140 (GRCm39) |
T576A |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,896,578 (GRCm39) |
D770E |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,909,331 (GRCm39) |
V248A |
possibly damaging |
Het |
| Wrap53 |
A |
G |
11: 69,454,417 (GRCm39) |
F244L |
probably damaging |
Het |
| Wrap73 |
A |
T |
4: 154,233,237 (GRCm39) |
Q137L |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,467,434 (GRCm39) |
T2531S |
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 |
|
|
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 |
|
R7774:Trpm8
|
UTSW |
1 |
88,258,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation