Incidental Mutation 'R4063:Trpm8'
ID |
315941 |
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 |
041619-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R4063 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 88289727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 895
(R895H)
|
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: R895H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036991 Gene: ENSMUSG00000036251 AA Change: R895H
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: R895H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108739 Gene: ENSMUSG00000036251 AA Change: R895H
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: ENSMUST00000171176
AA Change: R895H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131209 Gene: ENSMUSG00000036251 AA Change: R895H
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 |
0.1979 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (59/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
A |
T |
6: 146,854,606 (GRCm39) |
F145L |
probably benign |
Het |
Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,130,575 (GRCm39) |
D421G |
probably benign |
Het |
Armh4 |
T |
A |
14: 50,011,444 (GRCm39) |
M88L |
probably benign |
Het |
Atl2 |
T |
C |
17: 80,157,588 (GRCm39) |
*413W |
probably null |
Het |
B4galt7 |
C |
A |
13: 55,756,152 (GRCm39) |
|
probably null |
Het |
Bltp3b |
A |
G |
10: 89,651,917 (GRCm39) |
N247S |
probably benign |
Het |
C8g |
A |
T |
2: 25,389,425 (GRCm39) |
S147T |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,426,792 (GRCm39) |
Y510N |
possibly damaging |
Het |
Cnot2 |
A |
G |
10: 116,373,301 (GRCm39) |
V34A |
possibly damaging |
Het |
Cyb5d2 |
A |
T |
11: 72,686,606 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,421,144 (GRCm39) |
I3827T |
probably damaging |
Het |
Dnah7a |
G |
T |
1: 53,464,376 (GRCm39) |
Q3672K |
probably benign |
Het |
Dock1 |
A |
T |
7: 134,717,021 (GRCm39) |
Y1219F |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
Gm10719 |
G |
T |
9: 3,019,043 (GRCm39) |
W96L |
probably damaging |
Het |
H2-M2 |
G |
A |
17: 37,792,399 (GRCm39) |
H291Y |
probably damaging |
Het |
Hmgcl |
T |
C |
4: 135,686,035 (GRCm39) |
Y167H |
probably damaging |
Het |
Il22ra2 |
A |
T |
10: 19,502,400 (GRCm39) |
D73V |
possibly damaging |
Het |
Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
Irag1 |
G |
T |
7: 110,522,984 (GRCm39) |
A359D |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
Lipf |
A |
G |
19: 33,942,965 (GRCm39) |
N91S |
probably benign |
Het |
M1ap |
A |
T |
6: 82,980,756 (GRCm39) |
N214I |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
Mdga1 |
A |
G |
17: 30,057,005 (GRCm39) |
C826R |
probably damaging |
Het |
Msx1 |
C |
A |
5: 37,981,365 (GRCm39) |
A105S |
probably benign |
Het |
Or5ac23 |
A |
C |
16: 59,149,243 (GRCm39) |
S210A |
probably benign |
Het |
Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
Ppp1r13l |
A |
T |
7: 19,103,978 (GRCm39) |
H153L |
probably benign |
Het |
Pramel21 |
A |
G |
4: 143,342,559 (GRCm39) |
D222G |
possibly damaging |
Het |
Pramel29 |
T |
C |
4: 143,935,265 (GRCm39) |
K161E |
possibly damaging |
Het |
Proz |
A |
G |
8: 13,114,621 (GRCm39) |
Y85C |
probably damaging |
Het |
Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
Rad54l2 |
T |
A |
9: 106,597,613 (GRCm39) |
Q131L |
probably benign |
Het |
Sdha |
A |
G |
13: 74,472,077 (GRCm39) |
|
probably benign |
Het |
Sema3d |
T |
A |
5: 12,635,091 (GRCm39) |
I719N |
probably benign |
Het |
Slc18b1 |
A |
T |
10: 23,681,879 (GRCm39) |
I148L |
probably benign |
Het |
Tacc2 |
G |
T |
7: 130,330,852 (GRCm39) |
D2086Y |
probably damaging |
Het |
Tchh |
T |
C |
3: 93,354,298 (GRCm39) |
L1246P |
unknown |
Het |
Tmprss11d |
T |
C |
5: 86,457,177 (GRCm39) |
I161V |
probably benign |
Het |
Trpc3 |
T |
C |
3: 36,725,172 (GRCm39) |
D268G |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,945,079 (GRCm39) |
I366T |
possibly damaging |
Het |
Ugt2a3 |
T |
C |
5: 87,484,725 (GRCm39) |
I100V |
probably benign |
Het |
Upp1 |
C |
A |
11: 9,081,709 (GRCm39) |
P82Q |
probably damaging |
Het |
Vim |
A |
G |
2: 13,584,827 (GRCm39) |
|
probably null |
Het |
Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
Zdhhc14 |
G |
T |
17: 5,802,983 (GRCm39) |
C362F |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
Zswim5 |
G |
A |
4: 116,735,177 (GRCm39) |
G174D |
unknown |
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 |
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 |
|
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'- TCTGGCTGCTGGAACTTCTC -3'
(R):5'- ACTGTCCCACTCTAACTGGTAG -3'
Sequencing Primer
(F):5'- GCTGGAACTTCTCTCTGCCTG -3'
(R):5'- ATGCCTGTAATCTCAGCAGG -3'
|
Posted On |
2015-05-15 |