Incidental Mutation 'R4681:Trpm8'
ID |
350009 |
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 |
042015-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R4681 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88312427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1103
(I1103F)
|
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: I1103F
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000036991 Gene: ENSMUSG00000036251 AA Change: I1103F
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: I1103F
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108739 Gene: ENSMUSG00000036251 AA Change: I1103F
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: I1103F
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000131209 Gene: ENSMUSG00000036251 AA Change: I1103F
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 |
|
Meta Mutation Damage Score |
0.2148 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
100% (59/59) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
G |
T |
1: 179,580,361 (GRCm39) |
T1947K |
probably benign |
Het |
Ak9 |
A |
C |
10: 41,303,234 (GRCm39) |
K1669T |
unknown |
Het |
Atp4b |
T |
C |
8: 13,439,700 (GRCm39) |
E174G |
probably benign |
Het |
Bcl6 |
A |
G |
16: 23,787,203 (GRCm39) |
|
probably benign |
Het |
Brca2 |
C |
G |
5: 150,475,863 (GRCm39) |
|
probably null |
Het |
Btnl4 |
A |
T |
17: 34,689,075 (GRCm39) |
|
probably null |
Het |
C4a |
G |
T |
17: 35,036,075 (GRCm39) |
|
noncoding transcript |
Het |
Cab39l |
A |
G |
14: 59,737,054 (GRCm39) |
D58G |
probably benign |
Het |
Cacna2d3 |
A |
T |
14: 29,015,092 (GRCm39) |
M100K |
probably damaging |
Het |
Car2 |
T |
A |
3: 14,960,624 (GRCm39) |
Y127* |
probably null |
Het |
Cdhr1 |
T |
C |
14: 36,818,194 (GRCm39) |
N86S |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,704,953 (GRCm39) |
I479V |
possibly damaging |
Het |
Cfhr1 |
A |
T |
1: 139,478,667 (GRCm39) |
Y53* |
probably null |
Het |
Cgrrf1 |
A |
G |
14: 47,091,283 (GRCm39) |
E269G |
probably benign |
Het |
Cimap3 |
C |
A |
3: 105,905,701 (GRCm39) |
G148C |
probably damaging |
Het |
Clcn7 |
A |
T |
17: 25,376,935 (GRCm39) |
H636L |
probably damaging |
Het |
Cox10 |
T |
G |
11: 63,867,277 (GRCm39) |
T240P |
possibly damaging |
Het |
Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
Dbt |
A |
G |
3: 116,326,963 (GRCm39) |
D104G |
probably damaging |
Het |
F730035P03Rik |
T |
C |
7: 99,429,425 (GRCm39) |
|
noncoding transcript |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam186b |
T |
C |
15: 99,178,771 (GRCm39) |
K185R |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,941,491 (GRCm39) |
L128P |
probably damaging |
Het |
Gbf1 |
A |
T |
19: 46,268,989 (GRCm39) |
Q1381L |
probably benign |
Het |
Glp2r |
C |
T |
11: 67,621,453 (GRCm39) |
|
probably null |
Het |
Gm18025 |
A |
G |
12: 34,340,884 (GRCm39) |
S70P |
probably benign |
Het |
Gpr45 |
A |
G |
1: 43,072,068 (GRCm39) |
D237G |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,441,678 (GRCm39) |
L1213F |
possibly damaging |
Het |
Hydin |
T |
C |
8: 111,233,103 (GRCm39) |
V1734A |
possibly damaging |
Het |
Kcnh5 |
A |
T |
12: 75,054,397 (GRCm39) |
S516T |
probably benign |
Het |
Liph |
A |
C |
16: 21,802,777 (GRCm39) |
S97R |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,756,139 (GRCm39) |
T68A |
unknown |
Het |
Nsun7 |
T |
A |
5: 66,418,542 (GRCm39) |
S91T |
probably benign |
Het |
Or5an10 |
T |
C |
19: 12,276,413 (GRCm39) |
T28A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,337,433 (GRCm39) |
I227V |
probably damaging |
Het |
Pcdh20 |
A |
T |
14: 88,705,052 (GRCm39) |
N749K |
probably damaging |
Het |
Pot1b |
A |
T |
17: 55,961,831 (GRCm39) |
D582E |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,062,325 (GRCm39) |
I1212T |
probably benign |
Het |
Ramp1 |
T |
C |
1: 91,124,511 (GRCm39) |
V24A |
probably benign |
Het |
S100a8 |
T |
A |
3: 90,576,890 (GRCm39) |
D14E |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,414,369 (GRCm39) |
D501G |
probably benign |
Het |
Tbc1d19 |
G |
A |
5: 54,029,595 (GRCm39) |
V319M |
probably damaging |
Het |
Tbcel |
G |
T |
9: 42,361,268 (GRCm39) |
H93Q |
probably damaging |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Ttc19 |
T |
A |
11: 62,199,917 (GRCm39) |
C112* |
probably null |
Het |
Unc5c |
T |
G |
3: 141,474,374 (GRCm39) |
|
probably null |
Het |
Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,434,488 (GRCm39) |
I739F |
probably damaging |
Het |
Zcchc14 |
G |
T |
8: 122,335,339 (GRCm39) |
|
probably benign |
Het |
Zfp408 |
G |
A |
2: 91,476,131 (GRCm39) |
P341L |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,958,719 (GRCm39) |
V1166M |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATTCGTTTGCTAACTACTGACC -3'
(R):5'- CGCCATTGTGGACTGACATG -3'
Sequencing Primer
(F):5'- CGTTTGCTAACTACTGACCATAAG -3'
(R):5'- CCATTGTGGACTGACATGAGGAG -3'
|
Posted On |
2015-10-08 |