Incidental Mutation 'R7839:Trpm8'
| ID |
606142 |
| 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 |
045893-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R7839 (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 88254176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 133
(L133Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108739
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040210]
[ENSMUST00000113114]
[ENSMUST00000171176]
|
| AlphaFold |
Q8R4D5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040210
AA Change: L133Q
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: L133Q
| 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: L133Q
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: L133Q
| 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: L133Q
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: L133Q
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,025,085 (GRCm39) |
M986K |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,413 (GRCm39) |
K129R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,526,528 (GRCm39) |
D90G |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,411,213 (GRCm39) |
H1361Y |
probably damaging |
Het |
| Aqp4 |
T |
A |
18: 15,532,737 (GRCm39) |
I119F |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,770 (GRCm39) |
I313F |
possibly damaging |
Het |
| Cxcl9 |
A |
G |
5: 92,475,869 (GRCm39) |
V5A |
probably benign |
Het |
| Cyfip1 |
G |
A |
7: 55,536,483 (GRCm39) |
V304M |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp2j12 |
A |
G |
4: 95,987,893 (GRCm39) |
V499A |
possibly damaging |
Het |
| Cyth3 |
A |
G |
5: 143,683,509 (GRCm39) |
E136G |
probably benign |
Het |
| Degs2 |
CTTAGTGAAT |
CT |
12: 108,658,460 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,606,334 (GRCm39) |
S1229P |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,424,818 (GRCm39) |
C2087* |
probably null |
Het |
| Dop1b |
A |
T |
16: 93,560,829 (GRCm39) |
H889L |
probably damaging |
Het |
| Elf1 |
A |
G |
14: 79,773,855 (GRCm39) |
E22G |
probably benign |
Het |
| Gbgt1 |
T |
C |
2: 28,393,182 (GRCm39) |
V90A |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,294,773 (GRCm39) |
D675G |
possibly damaging |
Het |
| Glt8d1 |
G |
T |
14: 30,723,788 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
T |
A |
2: 148,525,815 (GRCm39) |
Y95* |
probably null |
Het |
| Insig2 |
T |
C |
1: 121,240,049 (GRCm39) |
I84V |
probably benign |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
| Nell2 |
T |
C |
15: 95,196,819 (GRCm39) |
N499S |
probably benign |
Het |
| Nlrp9b |
G |
A |
7: 19,758,398 (GRCm39) |
R545H |
possibly damaging |
Het |
| Obox7 |
T |
A |
7: 14,399,350 (GRCm39) |
I192N |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,106,026 (GRCm39) |
I80V |
probably damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,899 (GRCm39) |
I171F |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,060,583 (GRCm39) |
V3118E |
probably damaging |
Het |
| Plk3 |
T |
C |
4: 116,986,527 (GRCm39) |
T571A |
probably damaging |
Het |
| Ppa2 |
T |
C |
3: 133,082,351 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
A |
T |
2: 25,482,829 (GRCm39) |
H183Q |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,238 (GRCm39) |
S387T |
possibly damaging |
Het |
| Rbm33 |
A |
G |
5: 28,573,397 (GRCm39) |
|
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,055 (GRCm39) |
S724P |
probably damaging |
Het |
| Rtf2 |
T |
C |
2: 172,308,253 (GRCm39) |
|
probably null |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,887 (GRCm39) |
T79A |
possibly damaging |
Het |
| Slc45a2 |
A |
T |
15: 11,027,835 (GRCm39) |
Q468L |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,240,660 (GRCm39) |
I428V |
probably benign |
Het |
| Sp140l2 |
C |
T |
1: 85,224,736 (GRCm39) |
M266I |
probably benign |
Het |
| Taar7f |
C |
A |
10: 23,925,967 (GRCm39) |
A187E |
possibly damaging |
Het |
| Tmt1a |
T |
C |
15: 100,202,957 (GRCm39) |
V77A |
possibly damaging |
Het |
| Tob1 |
T |
A |
11: 94,104,598 (GRCm39) |
Y45N |
probably damaging |
Het |
| Trappc10 |
A |
G |
10: 78,024,646 (GRCm39) |
V1161A |
possibly damaging |
Het |
| Trbv13-2 |
T |
C |
6: 41,098,521 (GRCm39) |
V32A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,538,512 (GRCm39) |
T34729A |
probably benign |
Het |
| Uba6 |
G |
T |
5: 86,270,271 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,840,596 (GRCm39) |
D85G |
possibly damaging |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,394 (GRCm39) |
D253G |
possibly damaging |
Het |
| Vmn2r34 |
T |
A |
7: 7,687,173 (GRCm39) |
I175F |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,032 (GRCm39) |
I215N |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,634,799 (GRCm39) |
S202R |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,614,483 (GRCm39) |
C246Y |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,395,963 (GRCm39) |
D208G |
probably damaging |
Het |
| Zfp992 |
C |
A |
4: 146,550,875 (GRCm39) |
L199I |
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 |
|
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 |
|
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'- TTTGTGGCACCATTCAGGATTG -3'
(R):5'- GATGCAGTGCAGAATGACCC -3'
Sequencing Primer
(F):5'- CACTTTCCTATGAGGCTCTGGTAG -3'
(R):5'- GTGCAGAATGACCCCTGGATATTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation