Incidental Mutation 'R6283:Trpm8'
| ID |
508027 |
| 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 |
044453-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R6283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88276054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 551
(H551Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040210]
[ENSMUST00000113114]
[ENSMUST00000171176]
|
| AlphaFold |
Q8R4D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040210
AA Change: H551Y
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: H551Y
| 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
AA Change: H551Y
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: H551Y
| 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 benign
Transcript: ENSMUST00000171176
AA Change: H551Y
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: H551Y
| 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 |
0.1540 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
C |
A |
8: 123,512,694 (GRCm39) |
R372S |
probably damaging |
Het |
| Adamts20 |
A |
G |
15: 94,249,602 (GRCm39) |
S472P |
probably benign |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,992 (GRCm39) |
L312P |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,902,486 (GRCm39) |
E305G |
possibly damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,885,615 (GRCm39) |
R257* |
probably null |
Het |
| Cd209e |
G |
A |
8: 3,899,212 (GRCm39) |
Q167* |
probably null |
Het |
| Cd300e |
G |
A |
11: 114,945,380 (GRCm39) |
T138I |
probably benign |
Het |
| Ces2c |
A |
T |
8: 105,576,331 (GRCm39) |
M115L |
probably benign |
Het |
| Cfap61 |
T |
A |
2: 145,971,022 (GRCm39) |
|
probably null |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,985,459 (GRCm39) |
S301L |
probably damaging |
Het |
| Cks2 |
A |
G |
13: 51,799,495 (GRCm39) |
H16R |
probably benign |
Het |
| Copa |
A |
T |
1: 171,946,415 (GRCm39) |
H953L |
possibly damaging |
Het |
| Ctdsp2 |
T |
C |
10: 126,831,749 (GRCm39) |
V145A |
possibly damaging |
Het |
| Cyp2j13 |
A |
G |
4: 95,945,074 (GRCm39) |
V377A |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,582,234 (GRCm39) |
V404A |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,598,152 (GRCm39) |
S340G |
probably damaging |
Het |
| Ggps1 |
A |
G |
13: 14,232,379 (GRCm39) |
|
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11444 |
T |
C |
11: 85,737,617 (GRCm39) |
|
probably null |
Het |
| Grina |
A |
G |
15: 76,132,751 (GRCm39) |
T173A |
possibly damaging |
Het |
| Hcrtr1 |
G |
A |
4: 130,029,133 (GRCm39) |
T223I |
probably benign |
Het |
| Igsf10 |
T |
A |
3: 59,226,870 (GRCm39) |
T2268S |
probably damaging |
Het |
| Inhca |
G |
A |
9: 103,159,834 (GRCm39) |
R14* |
probably null |
Het |
| Ino80d |
C |
T |
1: 63,101,285 (GRCm39) |
R447Q |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,497,462 (GRCm39) |
T94M |
probably damaging |
Het |
| Itga2 |
A |
G |
13: 115,005,786 (GRCm39) |
Y465H |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,767 (GRCm39) |
T823A |
probably damaging |
Het |
| Krtap4-16 |
A |
G |
11: 99,741,861 (GRCm39) |
S180P |
unknown |
Het |
| Ldc1 |
A |
G |
4: 130,115,534 (GRCm39) |
S5P |
probably benign |
Het |
| Lpar6 |
A |
T |
14: 73,476,297 (GRCm39) |
D86V |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,370,601 (GRCm39) |
C2500* |
probably null |
Het |
| Mzf1 |
T |
C |
7: 12,787,296 (GRCm39) |
|
probably benign |
Het |
| Or4f58 |
A |
C |
2: 111,851,605 (GRCm39) |
M198R |
possibly damaging |
Het |
| Or5d46 |
T |
A |
2: 88,170,002 (GRCm39) |
I31N |
probably benign |
Het |
| Or5m3 |
G |
T |
2: 85,838,443 (GRCm39) |
V108L |
possibly damaging |
Het |
| Or7a36 |
T |
C |
10: 78,820,113 (GRCm39) |
V163A |
probably benign |
Het |
| Otogl |
T |
G |
10: 107,626,361 (GRCm39) |
E1501A |
probably damaging |
Het |
| Pcdh10 |
T |
A |
3: 45,335,989 (GRCm39) |
S768T |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,604,325 (GRCm39) |
Q644K |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,259,449 (GRCm39) |
I180F |
possibly damaging |
Het |
| Pinx1 |
A |
C |
14: 64,115,621 (GRCm39) |
N152T |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,987,608 (GRCm39) |
E629G |
probably benign |
Het |
| Qpctl |
T |
A |
7: 18,882,345 (GRCm39) |
I104F |
probably benign |
Het |
| Rabep1 |
C |
T |
11: 70,808,505 (GRCm39) |
A444V |
probably damaging |
Het |
| Rnf150 |
A |
G |
8: 83,717,183 (GRCm39) |
Y230C |
probably damaging |
Het |
| Slc25a27 |
A |
C |
17: 43,968,621 (GRCm39) |
V152G |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,260,084 (GRCm39) |
S772P |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,701 (GRCm39) |
T1711A |
probably benign |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Tmem265 |
T |
G |
7: 127,164,044 (GRCm39) |
V86G |
possibly damaging |
Het |
| Ttc6 |
T |
G |
12: 57,749,048 (GRCm39) |
Y1327D |
possibly damaging |
Het |
| Uevld |
G |
T |
7: 46,587,729 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r73 |
C |
T |
7: 85,521,049 (GRCm39) |
M306I |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,524,366 (GRCm39) |
M120K |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,819,908 (GRCm39) |
I1016F |
probably benign |
Het |
| Zfp90 |
T |
C |
8: 107,152,026 (GRCm39) |
C580R |
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 |
|
|
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'- TGGAGAATGGCCTGAATCTGC -3'
(R):5'- GAGAAAATGCATAGCTCCCTTCTAG -3'
Sequencing Primer
(F):5'- GCCTGAATCTGCAGAAGTTTC -3'
(R):5'- CTAGCTGCTTTATGGCAATGGGAAAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation