Incidental Mutation 'R6299:Trpm8'
| ID |
508943 |
| 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 |
044465-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
R6299 (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 88282201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 699
(L699Q)
|
| 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: L699Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: L699Q
| 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: L699Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: L699Q
| 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: L699Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: L699Q
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bms1 |
G |
A |
6: 118,395,476 (GRCm39) |
R24W |
probably damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,126 (GRCm39) |
S60C |
probably damaging |
Het |
| Cabcoco1 |
A |
G |
10: 68,272,720 (GRCm39) |
Y222H |
probably damaging |
Het |
| Cc2d1b |
T |
C |
4: 108,485,335 (GRCm39) |
V559A |
probably benign |
Het |
| Cgrrf1 |
T |
A |
14: 47,077,647 (GRCm39) |
N46K |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,464,275 (GRCm39) |
D114G |
probably damaging |
Het |
| Clcnkb |
T |
A |
4: 141,138,034 (GRCm39) |
L279F |
probably damaging |
Het |
| Cr2 |
T |
C |
1: 194,850,954 (GRCm39) |
T151A |
probably damaging |
Het |
| Creb3l3 |
C |
T |
10: 80,924,447 (GRCm39) |
E236K |
probably damaging |
Het |
| Dcstamp |
T |
A |
15: 39,618,599 (GRCm39) |
V336D |
probably damaging |
Het |
| Dop1a |
T |
G |
9: 86,386,265 (GRCm39) |
F379V |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 139,965,554 (GRCm39) |
K714R |
possibly damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,388,513 (GRCm39) |
M1L |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,314,121 (GRCm39) |
R354G |
probably benign |
Het |
| Fastkd3 |
T |
C |
13: 68,735,855 (GRCm39) |
L535P |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,731,066 (GRCm39) |
T12A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,386,438 (GRCm39) |
S1187T |
probably benign |
Het |
| Haus3 |
A |
G |
5: 34,325,140 (GRCm39) |
V173A |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,803 (GRCm39) |
Y1416N |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,272,016 (GRCm39) |
Y2566C |
probably damaging |
Het |
| Inpp5f |
A |
T |
7: 128,237,884 (GRCm39) |
T34S |
possibly damaging |
Het |
| Iqck |
G |
A |
7: 118,475,485 (GRCm39) |
G70S |
unknown |
Het |
| Jade1 |
T |
C |
3: 41,568,160 (GRCm39) |
F743L |
probably damaging |
Het |
| Kif5a |
T |
C |
10: 127,069,690 (GRCm39) |
K845R |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,285,636 (GRCm39) |
|
probably null |
Het |
| Map2k1 |
T |
C |
9: 64,121,772 (GRCm39) |
D67G |
possibly damaging |
Het |
| Mcm9 |
A |
C |
10: 53,413,777 (GRCm39) |
C434W |
probably damaging |
Het |
| Muc4 |
T |
G |
16: 32,570,853 (GRCm39) |
S638A |
possibly damaging |
Het |
| Nectin3 |
A |
G |
16: 46,284,345 (GRCm39) |
V113A |
probably damaging |
Het |
| Nfya |
T |
C |
17: 48,699,938 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
G |
T |
15: 8,157,922 (GRCm39) |
A460S |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,051,270 (GRCm39) |
E371G |
possibly damaging |
Het |
| Olfm3 |
T |
C |
3: 114,914,632 (GRCm39) |
S228P |
probably damaging |
Het |
| Or52n20 |
C |
A |
7: 104,320,075 (GRCm39) |
D55E |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
| Plin1 |
A |
C |
7: 79,371,224 (GRCm39) |
V500G |
probably benign |
Het |
| Ppfia1 |
A |
C |
7: 144,064,049 (GRCm39) |
M513R |
probably benign |
Het |
| Ppp1cb |
T |
A |
5: 32,640,798 (GRCm39) |
C27* |
probably null |
Het |
| Prss22 |
T |
A |
17: 24,215,408 (GRCm39) |
I123F |
probably damaging |
Het |
| Rbm24 |
G |
T |
13: 46,572,549 (GRCm39) |
V15L |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,491,942 (GRCm39) |
T97A |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,180,203 (GRCm39) |
T1065A |
possibly damaging |
Het |
| Sipa1l3 |
A |
C |
7: 29,065,974 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
A |
2: 127,064,081 (GRCm39) |
Y689* |
probably null |
Het |
| Srcap |
T |
C |
7: 127,129,626 (GRCm39) |
|
probably benign |
Het |
| Sv2a |
T |
C |
3: 96,095,565 (GRCm39) |
|
probably null |
Het |
| Tcf12 |
A |
T |
9: 71,766,211 (GRCm39) |
V474D |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,815,980 (GRCm39) |
S403T |
probably damaging |
Het |
| Trim65 |
C |
A |
11: 116,017,377 (GRCm39) |
A362S |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,423,919 (GRCm39) |
C36* |
probably null |
Het |
| Ube2m |
A |
C |
7: 12,769,797 (GRCm39) |
I116R |
probably damaging |
Het |
| Ulk1 |
T |
C |
5: 110,938,963 (GRCm39) |
K492E |
possibly damaging |
Het |
| Usp40 |
T |
A |
1: 87,925,649 (GRCm39) |
K193N |
probably damaging |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,098 (GRCm39) |
S70P |
possibly damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,024,074 (GRCm39) |
K836* |
probably null |
Het |
| Vmn2r75 |
T |
A |
7: 85,814,482 (GRCm39) |
H337L |
probably benign |
Het |
| Wars1 |
G |
A |
12: 108,827,309 (GRCm39) |
T437M |
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,825 (GRCm39) |
T451A |
probably benign |
Het |
| Zfp788 |
T |
G |
7: 41,297,965 (GRCm39) |
H180Q |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,717,782 (GRCm39) |
E59G |
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 |
|
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 |
|
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'- ATTGAAGACGTGGATGTGGG -3'
(R):5'- CGGAGAATCCAAATTCAGCCT -3'
Sequencing Primer
(F):5'- AAGACGTGGATGTGGGGGTTAG -3'
(R):5'- CTGCTTGAAACCCTACCTAGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation