Incidental Mutation 'IGL00963:Trpm8'
| ID |
26727 |
| 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: 0.301)
|
| Stock # |
IGL00963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88307549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1073
(D1073G)
|
| 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: D1073G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: D1073G
| 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: D1073G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: D1073G
| 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: D1073G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: D1073G
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI606181 |
A |
C |
19: 41,582,228 (GRCm39) |
|
probably benign |
Het |
| Alyref2 |
C |
T |
1: 171,331,816 (GRCm39) |
Q198* |
probably null |
Het |
| Ankrd13a |
T |
C |
5: 114,939,863 (GRCm39) |
S497P |
probably damaging |
Het |
| Chd5 |
C |
A |
4: 152,467,395 (GRCm39) |
N1644K |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,674,476 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
T |
A |
10: 64,781,728 (GRCm39) |
D730E |
probably damaging |
Het |
| Dock11 |
A |
G |
X: 35,296,035 (GRCm39) |
Q1197R |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,926,083 (GRCm39) |
I1224N |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,245,043 (GRCm39) |
K42R |
probably null |
Het |
| Engase |
A |
G |
11: 118,373,824 (GRCm39) |
D322G |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,386,262 (GRCm39) |
D829G |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,830,491 (GRCm39) |
M47I |
probably damaging |
Het |
| Gad1-ps |
G |
T |
10: 99,281,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gatb |
A |
G |
3: 85,526,255 (GRCm39) |
S378G |
probably benign |
Het |
| Hivep2 |
G |
A |
10: 14,005,091 (GRCm39) |
S563N |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,055,867 (GRCm39) |
A855V |
probably benign |
Het |
| Jagn1 |
T |
C |
6: 113,424,436 (GRCm39) |
S103P |
probably damaging |
Het |
| Kdm6a |
T |
A |
X: 18,112,665 (GRCm39) |
|
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,306,895 (GRCm39) |
C356R |
probably damaging |
Het |
| Mefv |
T |
A |
16: 3,533,584 (GRCm39) |
Y229F |
possibly damaging |
Het |
| Myef2 |
T |
C |
2: 124,957,395 (GRCm39) |
Y120C |
probably damaging |
Het |
| Myo9a |
T |
G |
9: 59,807,655 (GRCm39) |
I2074S |
probably damaging |
Het |
| Nhs |
A |
G |
X: 160,630,045 (GRCm39) |
S337P |
probably damaging |
Het |
| Nphp4 |
T |
G |
4: 152,622,318 (GRCm39) |
H566Q |
probably benign |
Het |
| Or2d2 |
A |
T |
7: 106,728,272 (GRCm39) |
C109* |
probably null |
Het |
| Or52z13 |
T |
A |
7: 103,246,844 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
C |
A |
18: 39,908,390 (GRCm39) |
Q552K |
possibly damaging |
Het |
| Podn |
T |
A |
4: 107,879,371 (GRCm39) |
N104I |
probably damaging |
Het |
| Rit1 |
T |
C |
3: 88,633,738 (GRCm39) |
V94A |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,534,289 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
A |
T |
11: 87,474,199 (GRCm39) |
K29M |
possibly damaging |
Het |
| Sowahb |
T |
C |
5: 93,191,870 (GRCm39) |
Y283C |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,422,637 (GRCm39) |
W460R |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,072,791 (GRCm39) |
K2173* |
probably null |
Het |
| Tlr6 |
T |
C |
5: 65,112,019 (GRCm39) |
N296S |
possibly damaging |
Het |
| Ttc28 |
A |
T |
5: 111,434,255 (GRCm39) |
K2399* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,717,627 (GRCm39) |
|
probably benign |
Het |
| Uroc1 |
C |
T |
6: 90,315,810 (GRCm39) |
T189I |
probably benign |
Het |
| Usp18 |
C |
T |
6: 121,232,341 (GRCm39) |
Q122* |
probably null |
Het |
| Zfp420 |
T |
C |
7: 29,574,518 (GRCm39) |
I246T |
probably damaging |
Het |
| Zfp644 |
T |
C |
5: 106,786,503 (GRCm39) |
|
probably null |
Het |
| Zfp871 |
A |
T |
17: 32,993,726 (GRCm39) |
V483E |
probably benign |
Het |
|
| Other mutations in Trpm8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation