Incidental Mutation 'R9121:Trpm8'
| ID |
692759 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R9121 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88312423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1101
(N1101K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040210]
[ENSMUST00000113114]
[ENSMUST00000171176]
|
| AlphaFold |
Q8R4D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040210
AA Change: N1101K
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: N1101K
| 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 benign
Transcript: ENSMUST00000113114
AA Change: N1101K
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: N1101K
| 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 benign
Transcript: ENSMUST00000171176
AA Change: N1101K
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: N1101K
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (44/44) |
| 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 |
|---|
| Adcy2 |
A |
T |
13: 68,820,078 (GRCm39) |
N720K |
probably benign |
Het |
| Ampd1 |
C |
T |
3: 103,005,998 (GRCm39) |
Q603* |
probably null |
Het |
| Arap2 |
G |
A |
5: 62,906,326 (GRCm39) |
T231M |
possibly damaging |
Het |
| Atp2b4 |
TCT |
TCTGCT |
1: 133,629,463 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
C |
T |
4: 122,761,516 (GRCm39) |
R122Q |
probably damaging |
Het |
| Cdh10 |
G |
A |
15: 19,011,074 (GRCm39) |
V586M |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,389,331 (GRCm39) |
V303E |
possibly damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,563,158 (GRCm39) |
C707* |
probably null |
Het |
| Crtc3 |
A |
G |
7: 80,242,323 (GRCm39) |
F497L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,683,774 (GRCm39) |
Y949C |
|
Het |
| D5Ertd579e |
A |
T |
5: 36,772,778 (GRCm39) |
I539N |
probably damaging |
Het |
| Dctpp1 |
T |
C |
7: 126,856,456 (GRCm39) |
R89G |
probably damaging |
Het |
| Dnah7c |
T |
A |
1: 46,704,650 (GRCm39) |
V2221E |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,816,896 (GRCm39) |
L3628I |
probably benign |
Het |
| E030025P04Rik |
A |
G |
11: 109,034,738 (GRCm39) |
F50S |
unknown |
Het |
| Edrf1 |
CGG |
CG |
7: 133,258,770 (GRCm39) |
|
probably null |
Het |
| Epb41l1 |
T |
G |
2: 156,364,487 (GRCm39) |
S999A |
probably benign |
Het |
| Fbxw10 |
T |
A |
11: 62,738,153 (GRCm39) |
C16S |
possibly damaging |
Het |
| Fbxw19 |
G |
A |
9: 109,324,890 (GRCm39) |
P9L |
probably damaging |
Het |
| Gpi1 |
A |
T |
7: 33,907,114 (GRCm39) |
Y327N |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,525,195 (GRCm39) |
L637P |
probably damaging |
Het |
| Idh3a |
T |
C |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
| Ighv1-56 |
T |
A |
12: 115,206,634 (GRCm39) |
T47S |
probably benign |
Het |
| Iglc2 |
A |
C |
16: 19,017,294 (GRCm39) |
C103G |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,148,102 (GRCm39) |
T771A |
possibly damaging |
Het |
| Mcm2 |
C |
A |
6: 88,861,019 (GRCm39) |
R893L |
probably benign |
Het |
| Mettl15 |
A |
T |
2: 109,104,948 (GRCm39) |
V19E |
|
Het |
| Mier2 |
G |
A |
10: 79,377,594 (GRCm39) |
A453V |
|
Het |
| Mlf1 |
T |
C |
3: 67,307,054 (GRCm39) |
S255P |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,482,636 (GRCm39) |
D78G |
possibly damaging |
Het |
| Or5w14 |
T |
A |
2: 87,541,975 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,726,976 (GRCm39) |
M59K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,536,462 (GRCm39) |
K1340E |
probably benign |
Het |
| Pla2g4c |
A |
G |
7: 13,091,010 (GRCm39) |
D589G |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,235,156 (GRCm39) |
V278A |
probably damaging |
Het |
| Qrich2 |
T |
A |
11: 116,347,272 (GRCm39) |
H1184L |
unknown |
Het |
| Rnaset2a |
A |
G |
17: 8,347,549 (GRCm39) |
F250S |
possibly damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,356 (GRCm39) |
Y32C |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,254,786 (GRCm39) |
S611P |
probably benign |
Het |
| Slco1a1 |
C |
A |
6: 141,892,542 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,040,599 (GRCm39) |
D225V |
probably damaging |
Het |
| Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
| Trim7 |
T |
A |
11: 48,740,674 (GRCm39) |
L257Q |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 102,968,095 (GRCm39) |
T107M |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,631,523 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,756,946 (GRCm39) |
Y1150* |
probably null |
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 |
|
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 |
|
|
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'- TGCTAACTACTGACCATAAGTAAGG -3'
(R):5'- CGCCATTGTGGACTGACATG -3'
Sequencing Primer
(F):5'- CTACTGACCATAAGTAAGGAATAAGC -3'
(R):5'- CCATTGTGGACTGACATGAGGAG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation