Incidental Mutation 'R8946:Trpm8'
| ID |
706135 |
| 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 |
068784-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R8946 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 88276061 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 benign
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 benign
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 benign
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
97% (65/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
A |
G |
10: 4,304,368 (GRCm39) |
S393G |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,430,083 (GRCm39) |
F862L |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 97,046,037 (GRCm39) |
*1546Q |
probably null |
Het |
| Ankrd33b |
T |
C |
15: 31,297,894 (GRCm39) |
T288A |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,145,227 (GRCm39) |
I1331T |
possibly damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,146,601 (GRCm39) |
L231P |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,050,882 (GRCm39) |
F284L |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,608,378 (GRCm39) |
H250Q |
probably damaging |
Het |
| Cd2bp2 |
A |
C |
7: 126,793,923 (GRCm39) |
I122S |
probably damaging |
Het |
| Cd300lf |
T |
A |
11: 115,024,738 (GRCm39) |
|
probably benign |
Het |
| Ceacam14 |
A |
G |
7: 17,547,999 (GRCm39) |
I30V |
probably benign |
Het |
| Chchd1 |
T |
A |
14: 20,753,385 (GRCm39) |
*56R |
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,409,861 (GRCm39) |
T948A |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,340,949 (GRCm39) |
N243I |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,757 (GRCm39) |
M462V |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,833 (GRCm39) |
E175K |
unknown |
Het |
| Csnka2ip |
T |
C |
16: 64,300,667 (GRCm39) |
|
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,033 (GRCm39) |
T146N |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,943,485 (GRCm39) |
|
probably benign |
Het |
| Fanci |
A |
G |
7: 79,045,726 (GRCm39) |
T23A |
probably benign |
Het |
| Fmnl1 |
T |
C |
11: 103,071,741 (GRCm39) |
Y83H |
probably damaging |
Het |
| Galnt13 |
C |
A |
2: 54,770,075 (GRCm39) |
T289N |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,733,404 (GRCm39) |
D1074G |
probably benign |
Het |
| Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
| Gnl1 |
T |
C |
17: 36,294,479 (GRCm39) |
I366T |
probably benign |
Het |
| Gtf2ird2 |
A |
T |
5: 134,245,161 (GRCm39) |
Y473F |
probably damaging |
Het |
| Ikzf1 |
T |
A |
11: 11,719,485 (GRCm39) |
D397E |
possibly damaging |
Het |
| Ints15 |
C |
G |
5: 143,300,795 (GRCm39) |
E19Q |
probably benign |
Het |
| Intu |
C |
T |
3: 40,637,789 (GRCm39) |
A425V |
possibly damaging |
Het |
| Irag1 |
A |
T |
7: 110,477,347 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
G |
A |
5: 37,343,084 (GRCm39) |
|
probably null |
Het |
| Lif |
C |
A |
11: 4,219,225 (GRCm39) |
P168Q |
possibly damaging |
Het |
| Myh11 |
A |
C |
16: 14,048,580 (GRCm39) |
S576A |
probably benign |
Het |
| Neb |
A |
G |
2: 52,041,425 (GRCm39) |
V6559A |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,162,625 (GRCm39) |
N368S |
probably damaging |
Het |
| Npsr1 |
G |
A |
9: 24,224,525 (GRCm39) |
V148I |
probably benign |
Het |
| Or51f1 |
C |
A |
7: 102,505,725 (GRCm39) |
G255* |
probably null |
Het |
| Or52ab4 |
T |
C |
7: 102,987,573 (GRCm39) |
F104S |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,832 (GRCm39) |
I223F |
probably damaging |
Het |
| Or5b111 |
A |
T |
19: 13,291,502 (GRCm39) |
L49Q |
probably damaging |
Het |
| Or7e166 |
C |
T |
9: 19,624,885 (GRCm39) |
T254I |
probably damaging |
Het |
| Patz1 |
T |
C |
11: 3,241,856 (GRCm39) |
C415R |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,546 (GRCm39) |
N205I |
possibly damaging |
Het |
| Pcdhga12 |
A |
T |
18: 37,899,711 (GRCm39) |
E181V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,018,158 (GRCm39) |
Y1333H |
probably damaging |
Het |
| Phf7 |
A |
T |
14: 30,970,106 (GRCm39) |
|
probably benign |
Het |
| Pomc |
T |
G |
12: 4,010,298 (GRCm39) |
S180A |
probably benign |
Het |
| Ppp1r7 |
T |
A |
1: 93,288,536 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
A |
T |
1: 162,536,478 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGC |
GGCCACGGCCGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
C |
T |
1: 32,585,685 (GRCm39) |
R75Q |
probably benign |
Het |
| Senp1 |
T |
C |
15: 97,940,782 (GRCm39) |
K664E |
probably damaging |
Het |
| Skint7 |
A |
G |
4: 111,839,198 (GRCm39) |
N164S |
possibly damaging |
Het |
| Smg1 |
C |
A |
7: 117,751,900 (GRCm39) |
R2775M |
probably null |
Het |
| Snrnp27 |
C |
T |
6: 86,653,226 (GRCm39) |
V131M |
probably damaging |
Het |
| Spire1 |
C |
A |
18: 67,629,686 (GRCm39) |
R357L |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,434,071 (GRCm39) |
V959I |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,568,458 (GRCm39) |
H335R |
probably damaging |
Het |
| Stard13 |
C |
T |
5: 150,984,267 (GRCm39) |
R623H |
probably damaging |
Het |
| Syde1 |
T |
A |
10: 78,424,683 (GRCm39) |
E383V |
probably damaging |
Het |
| Taf10 |
A |
G |
7: 105,393,524 (GRCm39) |
M1T |
probably null |
Het |
| Traf3ip3 |
A |
G |
1: 192,869,415 (GRCm39) |
C257R |
probably damaging |
Het |
| Veph1 |
A |
G |
3: 66,171,301 (GRCm39) |
|
probably null |
Het |
| Vmn1r169 |
A |
T |
7: 23,276,640 (GRCm39) |
T11S |
possibly damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,482,752 (GRCm39) |
S961T |
probably benign |
Het |
| Zfp773 |
T |
C |
7: 7,135,469 (GRCm39) |
T376A |
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 |
|
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 |
|
|
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'- TGGAGAATGGCCTGAATCTGC -3'
(R):5'- GAGAAAATGCATAGCTCCCTTC -3'
Sequencing Primer
(F):5'- GCCTGAATCTGCAGAAGTTTC -3'
(R):5'- CTAGCTGCTTTATGGCAATGGGAAAG -3'
|
| Posted On |
2022-03-30 |
Incidental Mutation