Incidental Mutation 'IGL02696:Trpm8'
ID |
303920 |
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 # |
IGL02696
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88275773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 457
(D457G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040210]
[ENSMUST00000113114]
[ENSMUST00000171176]
|
AlphaFold |
Q8R4D5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040210
AA Change: D457G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036991 Gene: ENSMUSG00000036251 AA Change: D457G
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: D457G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108739 Gene: ENSMUSG00000036251 AA Change: D457G
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 |
noncoding transcript
Transcript: ENSMUST00000147594
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171176
AA Change: D457G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131209 Gene: ENSMUSG00000036251 AA Change: D457G
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,704,628 (GRCm39) |
T43A |
probably benign |
Het |
Adgrd1 |
T |
C |
5: 129,217,918 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
T |
A |
2: 153,242,115 (GRCm39) |
Y888* |
probably null |
Het |
Atp8b5 |
T |
C |
4: 43,369,634 (GRCm39) |
V924A |
possibly damaging |
Het |
AU040320 |
T |
C |
4: 126,736,380 (GRCm39) |
L821P |
probably damaging |
Het |
Capn11 |
T |
C |
17: 45,943,635 (GRCm39) |
N596S |
probably damaging |
Het |
Cnot1 |
C |
A |
8: 96,471,645 (GRCm39) |
V1219F |
probably benign |
Het |
Cope |
T |
C |
8: 70,763,143 (GRCm39) |
|
probably null |
Het |
Crim1 |
A |
G |
17: 78,587,402 (GRCm39) |
E169G |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,533,065 (GRCm39) |
F2395I |
probably benign |
Het |
Ctso |
A |
C |
3: 81,858,691 (GRCm39) |
D220A |
possibly damaging |
Het |
Cttnbp2 |
G |
A |
6: 18,434,128 (GRCm39) |
P577S |
probably benign |
Het |
D930048N14Rik |
T |
A |
11: 51,544,821 (GRCm39) |
|
probably benign |
Het |
Dck |
T |
A |
5: 88,920,666 (GRCm39) |
S129T |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,041,326 (GRCm39) |
V1301A |
possibly damaging |
Het |
Dusp16 |
G |
A |
6: 134,695,398 (GRCm39) |
R478C |
probably damaging |
Het |
Ermap |
C |
T |
4: 119,044,904 (GRCm39) |
R49K |
possibly damaging |
Het |
Flnc |
A |
G |
6: 29,446,697 (GRCm39) |
K969R |
probably damaging |
Het |
Gjb2 |
A |
T |
14: 57,337,769 (GRCm39) |
F146L |
probably damaging |
Het |
Hdc |
A |
T |
2: 126,436,220 (GRCm39) |
D550E |
probably damaging |
Het |
Hs6st3 |
A |
T |
14: 120,106,731 (GRCm39) |
I380F |
probably damaging |
Het |
Htr1d |
T |
C |
4: 136,170,722 (GRCm39) |
V317A |
probably benign |
Het |
Kalrn |
A |
T |
16: 34,040,484 (GRCm39) |
M963K |
probably damaging |
Het |
Kl |
T |
A |
5: 150,904,450 (GRCm39) |
S401T |
probably benign |
Het |
Lair1 |
A |
G |
7: 4,013,848 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
C |
T |
19: 3,652,253 (GRCm39) |
V1206I |
probably benign |
Het |
Matn4 |
A |
G |
2: 164,238,758 (GRCm39) |
F343S |
probably benign |
Het |
Mrgpra4 |
G |
T |
7: 47,631,251 (GRCm39) |
R117S |
possibly damaging |
Het |
Myh14 |
T |
C |
7: 44,314,530 (GRCm39) |
Y131C |
probably damaging |
Het |
Nap1l4 |
A |
T |
7: 143,077,898 (GRCm39) |
N345K |
possibly damaging |
Het |
Oas1c |
T |
C |
5: 120,943,528 (GRCm39) |
R204G |
probably benign |
Het |
Or52e4 |
A |
G |
7: 104,705,569 (GRCm39) |
T39A |
probably benign |
Het |
Or8k25 |
T |
A |
2: 86,243,959 (GRCm39) |
T146S |
probably benign |
Het |
Pakap |
T |
A |
4: 57,854,663 (GRCm39) |
D58E |
probably damaging |
Het |
Pin1 |
G |
A |
9: 20,574,531 (GRCm39) |
G150E |
probably benign |
Het |
R3hdm2 |
T |
C |
10: 127,300,888 (GRCm39) |
|
probably null |
Het |
Rai1 |
C |
A |
11: 60,084,782 (GRCm39) |
H1843Q |
probably benign |
Het |
Siae |
G |
T |
9: 37,542,680 (GRCm39) |
A194S |
probably damaging |
Het |
Slc6a12 |
G |
T |
6: 121,340,211 (GRCm39) |
V485L |
probably benign |
Het |
Stil |
T |
G |
4: 114,898,692 (GRCm39) |
S1107R |
probably damaging |
Het |
Syt16 |
T |
C |
12: 74,176,185 (GRCm39) |
V18A |
possibly damaging |
Het |
Tshr |
A |
T |
12: 91,460,103 (GRCm39) |
T66S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,537,639 (GRCm39) |
Q34763L |
probably benign |
Het |
Ubr2 |
T |
A |
17: 47,274,691 (GRCm39) |
M830L |
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,940,918 (GRCm39) |
F337S |
probably damaging |
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 |
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 |