Incidental Mutation 'R5926:Trpm8'
| ID |
459869 |
| 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 |
044121-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.301)
|
| Stock # |
R5926 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
88234457-88318909 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88258469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 251
(Y251N)
|
| 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: Y251N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000036991
Gene: ENSMUSG00000036251
AA Change: Y251N
| 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: Y251N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108739
Gene: ENSMUSG00000036251
AA Change: Y251N
| 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: Y251N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131209
Gene: ENSMUSG00000036251
AA Change: Y251N
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,537,608 (GRCm39) |
Y701F |
probably benign |
Het |
| Abra |
T |
A |
15: 41,729,650 (GRCm39) |
H250L |
probably damaging |
Het |
| Acer2 |
T |
C |
4: 86,792,805 (GRCm39) |
V27A |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,842,781 (GRCm39) |
L343S |
possibly damaging |
Het |
| Arnt2 |
G |
T |
7: 83,993,154 (GRCm39) |
H129N |
probably damaging |
Het |
| Atp9a |
T |
A |
2: 168,548,191 (GRCm39) |
Y63F |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,458,087 (GRCm39) |
T213A |
probably benign |
Het |
| Cdk5r1 |
T |
C |
11: 80,369,128 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
C |
T |
9: 86,939,314 (GRCm39) |
L366F |
probably benign |
Het |
| Cyp20a1 |
T |
A |
1: 60,402,401 (GRCm39) |
I162K |
possibly damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,715,561 (GRCm39) |
V226A |
probably benign |
Het |
| Ddx41 |
A |
T |
13: 55,682,112 (GRCm39) |
M232K |
probably damaging |
Het |
| Dnm1 |
C |
T |
2: 32,205,816 (GRCm39) |
V99I |
probably benign |
Het |
| Doc2a |
T |
C |
7: 126,448,697 (GRCm39) |
V134A |
probably damaging |
Het |
| Ghdc |
C |
T |
11: 100,659,063 (GRCm39) |
V380M |
possibly damaging |
Het |
| Gldn |
A |
G |
9: 54,245,722 (GRCm39) |
I424M |
possibly damaging |
Het |
| Haus6 |
A |
T |
4: 86,517,553 (GRCm39) |
H270Q |
probably benign |
Het |
| Hfe |
A |
T |
13: 23,892,247 (GRCm39) |
M39K |
probably damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,242,624 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,383,235 (GRCm39) |
N187S |
probably benign |
Het |
| Kcnd2 |
A |
G |
6: 21,217,084 (GRCm39) |
S263G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,095,385 (GRCm39) |
N481S |
probably benign |
Het |
| Kcnn2 |
A |
G |
18: 45,818,351 (GRCm39) |
I343V |
probably benign |
Het |
| L3hypdh |
T |
A |
12: 72,123,959 (GRCm39) |
S300C |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,776,966 (GRCm39) |
C29S |
probably damaging |
Het |
| Mark3 |
T |
A |
12: 111,559,168 (GRCm39) |
V70E |
probably damaging |
Het |
| Med16 |
C |
T |
10: 79,738,362 (GRCm39) |
V319M |
probably damaging |
Het |
| Mindy3 |
T |
C |
2: 12,352,911 (GRCm39) |
Y430C |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,751,286 (GRCm39) |
F121I |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Notch1 |
A |
G |
2: 26,366,116 (GRCm39) |
Y813H |
probably benign |
Het |
| Or10a3m |
T |
C |
7: 108,312,794 (GRCm39) |
L66S |
probably damaging |
Het |
| Or5p53 |
T |
C |
7: 107,533,110 (GRCm39) |
S128P |
probably damaging |
Het |
| Or6b2b |
A |
T |
1: 92,419,288 (GRCm39) |
L63Q |
probably damaging |
Het |
| Pi4kb |
A |
G |
3: 94,906,307 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,692,869 (GRCm39) |
S244P |
probably benign |
Het |
| Ptprn |
G |
A |
1: 75,231,242 (GRCm39) |
T554I |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,406,606 (GRCm39) |
I969V |
probably benign |
Het |
| Raf1 |
T |
C |
6: 115,596,859 (GRCm39) |
M519V |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,803,785 (GRCm39) |
V622A |
probably damaging |
Het |
| Spaca4 |
G |
T |
7: 45,374,719 (GRCm39) |
H94Q |
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,068,539 (GRCm39) |
D229G |
possibly damaging |
Het |
| Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
| Vps16 |
T |
A |
2: 130,285,476 (GRCm39) |
N806K |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,581,137 (GRCm39) |
F592L |
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 |
|
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'- TTTGTCAGGTACAGTCACAAGAGG -3'
(R):5'- ACATTAACTCTTCTTCAGCGGTG -3'
Sequencing Primer
(F):5'- TACAGTCACAAGAGGAAGCATAC -3'
(R):5'- TTCAGCGGTGAAGACATCAAATC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation