Incidental Mutation 'R7057:Trpm8'
| ID |
547957 |
| 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 |
045154-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R7057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88289802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 920
(D920V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040210]
[ENSMUST00000113114]
[ENSMUST00000171176]
|
| AlphaFold |
Q8R4D5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040210
AA Change: D920V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: D920V
| 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 null
Transcript: ENSMUST00000113114
AA Change: D920V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: D920V
| 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 null
Transcript: ENSMUST00000171176
AA Change: D920V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: D920V
| 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 |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
A |
6: 40,945,181 (GRCm39) |
V220D |
probably benign |
Het |
| Ankrd1 |
T |
C |
19: 36,095,633 (GRCm39) |
E113G |
possibly damaging |
Het |
| Aqp12 |
T |
C |
1: 92,939,718 (GRCm39) |
L249P |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,296 (GRCm39) |
F15S |
possibly damaging |
Het |
| Bub1 |
T |
A |
2: 127,671,447 (GRCm39) |
M46L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,270,800 (GRCm39) |
H22R |
probably benign |
Het |
| Ccdc157 |
A |
G |
11: 4,094,586 (GRCm39) |
V480A |
probably benign |
Het |
| Cdc42ep3 |
G |
A |
17: 79,642,952 (GRCm39) |
|
probably benign |
Het |
| Cela1 |
T |
A |
15: 100,580,774 (GRCm39) |
T161S |
possibly damaging |
Het |
| Chtf18 |
G |
T |
17: 25,940,100 (GRCm39) |
A697E |
possibly damaging |
Het |
| Cr2 |
T |
C |
1: 194,833,918 (GRCm39) |
D957G |
possibly damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,796,063 (GRCm39) |
V60A |
probably damaging |
Het |
| Dazl |
CCATGATGGCGGC |
CC |
17: 50,600,434 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
T |
11: 34,177,684 (GRCm39) |
L1824Q |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,586,044 (GRCm39) |
Y546C |
probably benign |
Het |
| Focad |
G |
A |
4: 88,192,342 (GRCm39) |
C557Y |
unknown |
Het |
| Ftmt |
T |
A |
18: 52,465,180 (GRCm39) |
N165K |
probably benign |
Het |
| Gen1 |
A |
C |
12: 11,292,419 (GRCm39) |
S457A |
probably benign |
Het |
| Gja1 |
T |
G |
10: 56,264,129 (GRCm39) |
S163A |
probably benign |
Het |
| Gm8267 |
T |
C |
14: 44,959,481 (GRCm39) |
I194M |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,529 (GRCm39) |
S389R |
probably damaging |
Het |
| Gpc5 |
C |
A |
14: 115,370,654 (GRCm39) |
Q87K |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,312,661 (GRCm39) |
A3420T |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,979,067 (GRCm39) |
S817G |
probably null |
Het |
| Hus1b |
C |
T |
13: 31,131,533 (GRCm39) |
C42Y |
possibly damaging |
Het |
| Iars2 |
A |
G |
1: 185,021,564 (GRCm39) |
F913L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,125,665 (GRCm39) |
E133G |
probably damaging |
Het |
| Klhl36 |
T |
C |
8: 120,603,536 (GRCm39) |
L597P |
probably benign |
Het |
| Ltv1 |
T |
C |
10: 13,056,646 (GRCm39) |
E299G |
possibly damaging |
Het |
| Mmp12 |
A |
G |
9: 7,357,840 (GRCm39) |
Y348C |
probably damaging |
Het |
| Mmp12 |
G |
A |
9: 7,369,173 (GRCm39) |
V270I |
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,558,333 (GRCm39) |
D134G |
probably damaging |
Het |
| Mrpl15 |
A |
T |
1: 4,846,865 (GRCm39) |
M237K |
probably benign |
Het |
| Ms4a6b |
G |
T |
19: 11,504,253 (GRCm39) |
V177F |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,557,375 (GRCm39) |
S2973P |
unknown |
Het |
| Or1e30 |
A |
C |
11: 73,677,974 (GRCm39) |
D70A |
possibly damaging |
Het |
| Or4c114 |
A |
C |
2: 88,904,808 (GRCm39) |
I209S |
possibly damaging |
Het |
| Or5b120 |
G |
T |
19: 13,480,243 (GRCm39) |
D179Y |
probably damaging |
Het |
| Or5b12b |
A |
T |
19: 12,862,006 (GRCm39) |
I254F |
probably damaging |
Het |
| Or8b48 |
A |
T |
9: 38,493,050 (GRCm39) |
H159L |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,286,364 (GRCm39) |
I1201K |
probably benign |
Het |
| Plekhn1 |
T |
G |
4: 156,318,374 (GRCm39) |
M83L |
probably damaging |
Het |
| Pnlip |
G |
T |
19: 58,664,695 (GRCm39) |
D212Y |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,174,152 (GRCm39) |
N417S |
probably damaging |
Het |
| Pxylp1 |
T |
A |
9: 96,707,103 (GRCm39) |
M360L |
probably benign |
Het |
| Rbak |
G |
A |
5: 143,159,682 (GRCm39) |
T457I |
possibly damaging |
Het |
| Runx2 |
A |
T |
17: 45,125,424 (GRCm39) |
W31R |
probably null |
Het |
| Sec16a |
T |
A |
2: 26,315,277 (GRCm39) |
I1795F |
probably damaging |
Het |
| Sik2 |
A |
T |
9: 50,909,861 (GRCm39) |
I64N |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,371 (GRCm39) |
E924G |
possibly damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Slc45a4 |
C |
A |
15: 73,459,487 (GRCm39) |
D174Y |
probably damaging |
Het |
| Slc6a6 |
A |
C |
6: 91,718,248 (GRCm39) |
E354A |
probably damaging |
Het |
| Slc8a1 |
A |
T |
17: 81,956,524 (GRCm39) |
S171R |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,640,858 (GRCm39) |
I669M |
probably benign |
Het |
| Stk39 |
C |
A |
2: 68,240,471 (GRCm39) |
A87S |
possibly damaging |
Het |
| Tasor |
A |
T |
14: 27,183,608 (GRCm39) |
N689I |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,587,317 (GRCm39) |
S600I |
possibly damaging |
Het |
| Tesc |
A |
C |
5: 118,193,025 (GRCm39) |
K114Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,554,915 (GRCm39) |
D256G |
probably damaging |
Het |
| Tmem35b |
T |
A |
4: 127,021,679 (GRCm39) |
I45K |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,307,168 (GRCm39) |
D1127G |
probably damaging |
Het |
| U2af1 |
A |
T |
17: 31,867,831 (GRCm39) |
D79E |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,535,977 (GRCm39) |
D331G |
probably damaging |
Het |
| Znrf3 |
G |
T |
11: 5,232,442 (GRCm39) |
P261Q |
probably benign |
Het |
| Zscan4b |
A |
T |
7: 10,635,636 (GRCm39) |
C202* |
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 |
|
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'- GGCAGCTGATCGACGTTTTC -3'
(R):5'- TCTAACTGGTAGCATAGCTGTAAC -3'
Sequencing Primer
(F):5'- GCAGCTGATCGACGTTTTCTTCTTC -3'
(R):5'- ATGCCTGTAATCTCAGCAGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation