Incidental Mutation 'IGL02184:Trpm8'
| ID |
284285 |
| 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 # |
IGL02184
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 88258416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040210]
[ENSMUST00000113114]
[ENSMUST00000171176]
|
| AlphaFold |
Q8R4D5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040210
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
| 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 null
Transcript: ENSMUST00000113114
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
| 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 null
Transcript: ENSMUST00000171176
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
C |
T |
3: 89,253,241 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
G |
13: 63,215,925 (GRCm39) |
I399S |
possibly damaging |
Het |
| Atp8b3 |
A |
C |
10: 80,363,067 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,815,029 (GRCm39) |
M1417K |
probably damaging |
Het |
| Camk2d |
A |
T |
3: 126,591,422 (GRCm39) |
R297S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,069,191 (GRCm39) |
H215L |
probably damaging |
Het |
| Cytip |
T |
C |
2: 58,023,750 (GRCm39) |
S357G |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,951 (GRCm39) |
R101G |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,006,872 (GRCm39) |
Y273H |
possibly damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,858,885 (GRCm39) |
S57G |
probably benign |
Het |
| Fgf8 |
A |
T |
19: 45,725,655 (GRCm39) |
L141Q |
probably damaging |
Het |
| Grm5 |
C |
T |
7: 87,675,650 (GRCm39) |
T388M |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,666,066 (GRCm39) |
L589P |
possibly damaging |
Het |
| Kiz |
T |
C |
2: 146,731,520 (GRCm39) |
S337P |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,388,435 (GRCm39) |
I2330K |
unknown |
Het |
| Mdfic |
T |
A |
6: 15,770,366 (GRCm39) |
I124K |
possibly damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,225,059 (GRCm39) |
S75G |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,821,761 (GRCm39) |
|
probably null |
Het |
| Myom1 |
G |
A |
17: 71,379,132 (GRCm39) |
S632N |
possibly damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,094 (GRCm39) |
K473E |
probably damaging |
Het |
| Nrp2 |
C |
A |
1: 62,758,099 (GRCm39) |
C28* |
probably null |
Het |
| Nwd2 |
G |
T |
5: 63,963,020 (GRCm39) |
G868V |
probably damaging |
Het |
| Or4a73 |
G |
A |
2: 89,420,637 (GRCm39) |
T274I |
probably damaging |
Het |
| Or4c58 |
G |
A |
2: 89,674,729 (GRCm39) |
A196V |
probably damaging |
Het |
| Or5w1 |
A |
G |
2: 87,487,136 (GRCm39) |
L43P |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,258,928 (GRCm39) |
M1559L |
possibly damaging |
Het |
| Pmm2 |
T |
A |
16: 8,455,668 (GRCm39) |
D10E |
possibly damaging |
Het |
| Polm |
T |
C |
11: 5,780,137 (GRCm39) |
Q300R |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,111,467 (GRCm39) |
N1208K |
probably benign |
Het |
| Serpinb3c |
T |
C |
1: 107,199,648 (GRCm39) |
D291G |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,259,810 (GRCm39) |
K37E |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,578,889 (GRCm39) |
F268S |
probably damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,599,948 (GRCm39) |
Y127H |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,703,506 (GRCm39) |
Y260C |
probably damaging |
Het |
| Sorbs3 |
C |
T |
14: 70,421,455 (GRCm39) |
|
probably null |
Het |
| Spen |
T |
C |
4: 141,214,917 (GRCm39) |
Y534C |
unknown |
Het |
| Tmem237 |
T |
C |
1: 59,159,270 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
A |
T |
17: 43,396,354 (GRCm39) |
N546I |
probably benign |
Het |
| Tpgs2 |
T |
A |
18: 25,273,630 (GRCm39) |
D177V |
probably damaging |
Het |
| Tpx2 |
C |
T |
2: 152,724,240 (GRCm39) |
R339* |
probably null |
Het |
| Trim12c |
T |
C |
7: 103,997,430 (GRCm39) |
Y42C |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,564,272 (GRCm39) |
E341V |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,730,989 (GRCm39) |
I1221F |
probably benign |
Het |
| Ucp2 |
C |
T |
7: 100,148,529 (GRCm39) |
A301V |
probably benign |
Het |
| Zfyve1 |
T |
C |
12: 83,605,467 (GRCm39) |
I411V |
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 |
|
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 |
2015-04-16 |
Incidental Mutation