Incidental Mutation 'R3148:Trpm1'
| ID |
264326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpm1
|
| Ensembl Gene |
ENSMUSG00000030523 |
| Gene Name |
transient receptor potential cation channel, subfamily M, member 1 |
| Synonyms |
Mlsn1, 4732499L03Rik, LTRPC1, melastatin |
| MMRRC Submission |
040600-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3148 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
64153835-64269775 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64235012 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 814
(Y814H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085222]
[ENSMUST00000206263]
[ENSMUST00000206277]
[ENSMUST00000206314]
|
| AlphaFold |
Q2TV84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085222
AA Change: Y814H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082318
Gene: ENSMUSG00000030523
AA Change: Y814H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
491 |
N/A |
INTRINSIC |
|
Blast:ANK
|
505 |
533 |
1e-5 |
BLAST |
|
low complexity region
|
621 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
|
transmembrane domain
|
876 |
895 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
907 |
1120 |
6e-16 |
PFAM |
|
transmembrane domain
|
1150 |
1167 |
N/A |
INTRINSIC |
|
low complexity region
|
1216 |
1225 |
N/A |
INTRINSIC |
|
PDB:3E7K|H
|
1228 |
1279 |
1e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107525
AA Change: Y814H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103149
Gene: ENSMUSG00000030523
AA Change: Y814H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
195 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
491 |
N/A |
INTRINSIC |
|
Blast:ANK
|
505 |
533 |
1e-5 |
BLAST |
|
low complexity region
|
621 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
835 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
876 |
1138 |
7.6e-22 |
PFAM |
|
transmembrane domain
|
1156 |
1173 |
N/A |
INTRINSIC |
|
Pfam:TRPM_tetra
|
1230 |
1285 |
9.4e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138074
AA Change: Y238H
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205939
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206000
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206263
AA Change: Y698H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206277
AA Change: Y814H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206314
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutants have defects in rod and cone electrophysiology affecting the photoresponses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
C |
X: 67,921,378 |
D12G |
probably benign |
Het |
| Adamts18 |
C |
A |
8: 113,738,858 |
V701L |
probably damaging |
Het |
| Alg2 |
A |
T |
4: 47,472,259 |
V183D |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,933,075 |
I857V |
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,566,259 |
A404S |
probably damaging |
Het |
| Baalc |
A |
T |
15: 38,949,173 |
E106V |
possibly damaging |
Het |
| Catsperd |
G |
T |
17: 56,664,039 |
C701F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,709,155 |
I769N |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 112,757,439 |
T375A |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,961,405 |
T974A |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,100,465 |
Y502C |
probably damaging |
Het |
| Gm13083 |
A |
T |
4: 143,617,477 |
D449V |
probably benign |
Het |
| Kcnj11 |
C |
T |
7: 46,099,120 |
V260I |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,692,077 |
C51Y |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 14,125,979 |
V1380A |
possibly damaging |
Het |
| Olfr1280 |
T |
C |
2: 111,316,288 |
F270L |
possibly damaging |
Het |
| Otog |
T |
C |
7: 46,290,169 |
L2124P |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,895,678 |
N256I |
possibly damaging |
Het |
| Pcbp1 |
C |
T |
6: 86,525,489 |
E143K |
probably damaging |
Het |
| Prrx1 |
T |
C |
1: 163,257,848 |
D171G |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 157,243,764 |
|
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,881,825 |
H320Q |
probably damaging |
Het |
| Snx4 |
A |
C |
16: 33,287,724 |
D296A |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,035,788 |
Q778R |
probably benign |
Het |
| Spata16 |
T |
C |
3: 26,878,712 |
|
probably null |
Het |
| Tcerg1l |
G |
T |
7: 138,259,867 |
Q378K |
probably benign |
Het |
|
| Other mutations in Trpm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Trpm1
|
APN |
7 |
64243450 |
missense |
probably damaging |
1.00 |
|
IGL00465:Trpm1
|
APN |
7 |
64247467 |
missense |
possibly damaging |
0.94 |
|
IGL01118:Trpm1
|
APN |
7 |
64235824 |
missense |
probably benign |
0.24 |
|
IGL01148:Trpm1
|
APN |
7 |
64243564 |
missense |
probably damaging |
1.00 |
|
IGL01303:Trpm1
|
APN |
7 |
64210830 |
critical splice acceptor site |
probably benign |
0.00 |
|
IGL01432:Trpm1
|
APN |
7 |
64235019 |
missense |
probably benign |
0.18 |
|
IGL01433:Trpm1
|
APN |
7 |
64204528 |
missense |
probably damaging |
1.00 |
|
IGL01506:Trpm1
|
APN |
7 |
64243581 |
missense |
probably damaging |
1.00 |
|
IGL01626:Trpm1
|
APN |
7 |
64268889 |
missense |
probably damaging |
1.00 |
|
IGL01640:Trpm1
|
APN |
7 |
64226897 |
missense |
probably damaging |
1.00 |
|
IGL01899:Trpm1
|
APN |
7 |
64234994 |
missense |
probably benign |
0.24 |
|
IGL01959:Trpm1
|
APN |
7 |
64208975 |
missense |
possibly damaging |
0.81 |
|
IGL02210:Trpm1
|
APN |
7 |
64210865 |
missense |
probably damaging |
1.00 |
|
IGL02268:Trpm1
|
APN |
7 |
64217614 |
missense |
probably damaging |
0.96 |
|
IGL02331:Trpm1
|
APN |
7 |
64235052 |
missense |
probably benign |
0.30 |
|
IGL02334:Trpm1
|
APN |
7 |
64245942 |
critical splice acceptor site |
probably null |
|
|
IGL02407:Trpm1
|
APN |
7 |
64219121 |
missense |
probably damaging |
1.00 |
|
IGL02425:Trpm1
|
APN |
7 |
64240427 |
missense |
probably damaging |
0.96 |
|
IGL02485:Trpm1
|
APN |
7 |
64269114 |
missense |
possibly damaging |
0.52 |
|
IGL02635:Trpm1
|
APN |
7 |
64199224 |
missense |
probably benign |
0.00 |
|
IGL02640:Trpm1
|
APN |
7 |
64219133 |
missense |
probably damaging |
0.97 |
|
IGL02827:Trpm1
|
APN |
7 |
64219160 |
missense |
probably null |
1.00 |
|
PIT4458001:Trpm1
|
UTSW |
7 |
64268561 |
missense |
possibly damaging |
0.94 |
|
PIT4544001:Trpm1
|
UTSW |
7 |
64199250 |
intron |
probably benign |
|
|
R0012:Trpm1
|
UTSW |
7 |
64268591 |
missense |
possibly damaging |
0.88 |
|
R0014:Trpm1
|
UTSW |
7 |
64248222 |
missense |
probably damaging |
1.00 |
|
R0056:Trpm1
|
UTSW |
7 |
64243586 |
missense |
probably damaging |
1.00 |
|
R0445:Trpm1
|
UTSW |
7 |
64244842 |
unclassified |
probably benign |
|
|
R0463:Trpm1
|
UTSW |
7 |
64220254 |
missense |
probably benign |
0.05 |
|
R0469:Trpm1
|
UTSW |
7 |
64223758 |
missense |
probably damaging |
1.00 |
|
R0510:Trpm1
|
UTSW |
7 |
64223758 |
missense |
probably damaging |
1.00 |
|
R1301:Trpm1
|
UTSW |
7 |
64203053 |
splice site |
probably null |
|
|
R1397:Trpm1
|
UTSW |
7 |
64217658 |
missense |
probably damaging |
1.00 |
|
R1588:Trpm1
|
UTSW |
7 |
64223817 |
missense |
possibly damaging |
0.93 |
|
R1618:Trpm1
|
UTSW |
7 |
64240535 |
missense |
probably damaging |
1.00 |
|
R1724:Trpm1
|
UTSW |
7 |
64235821 |
nonsense |
probably null |
|
|
R1827:Trpm1
|
UTSW |
7 |
64235007 |
missense |
probably damaging |
1.00 |
|
R1829:Trpm1
|
UTSW |
7 |
64226782 |
missense |
probably damaging |
1.00 |
|
R1835:Trpm1
|
UTSW |
7 |
64230268 |
missense |
probably damaging |
1.00 |
|
R1864:Trpm1
|
UTSW |
7 |
64268016 |
missense |
probably damaging |
1.00 |
|
R1895:Trpm1
|
UTSW |
7 |
64223808 |
missense |
probably damaging |
1.00 |
|
R1946:Trpm1
|
UTSW |
7 |
64223808 |
missense |
probably damaging |
1.00 |
|
R1959:Trpm1
|
UTSW |
7 |
64230230 |
missense |
probably damaging |
1.00 |
|
R1960:Trpm1
|
UTSW |
7 |
64230230 |
missense |
probably damaging |
1.00 |
|
R1980:Trpm1
|
UTSW |
7 |
64208434 |
missense |
possibly damaging |
0.83 |
|
R1989:Trpm1
|
UTSW |
7 |
64209032 |
intron |
probably null |
|
|
R2054:Trpm1
|
UTSW |
7 |
64240555 |
missense |
possibly damaging |
0.69 |
|
R2156:Trpm1
|
UTSW |
7 |
64234988 |
missense |
probably damaging |
1.00 |
|
R2251:Trpm1
|
UTSW |
7 |
64209976 |
missense |
probably damaging |
1.00 |
|
R3051:Trpm1
|
UTSW |
7 |
64269101 |
missense |
probably damaging |
1.00 |
|
R3195:Trpm1
|
UTSW |
7 |
64199313 |
nonsense |
probably null |
|
|
R3615:Trpm1
|
UTSW |
7 |
64243570 |
missense |
probably damaging |
1.00 |
|
R3616:Trpm1
|
UTSW |
7 |
64243570 |
missense |
probably damaging |
1.00 |
|
R3623:Trpm1
|
UTSW |
7 |
64244853 |
missense |
probably damaging |
1.00 |
|
R3624:Trpm1
|
UTSW |
7 |
64244853 |
missense |
probably damaging |
1.00 |
|
R3721:Trpm1
|
UTSW |
7 |
64217727 |
intron |
probably benign |
|
|
R3822:Trpm1
|
UTSW |
7 |
64217703 |
intron |
probably benign |
|
|
R4441:Trpm1
|
UTSW |
7 |
64201918 |
missense |
probably damaging |
1.00 |
|
R4490:Trpm1
|
UTSW |
7 |
64208912 |
nonsense |
probably null |
|
|
R4666:Trpm1
|
UTSW |
7 |
64203034 |
missense |
probably damaging |
1.00 |
|
R4701:Trpm1
|
UTSW |
7 |
64243500 |
missense |
probably damaging |
1.00 |
|
R4781:Trpm1
|
UTSW |
7 |
64235052 |
missense |
probably benign |
0.30 |
|
R4811:Trpm1
|
UTSW |
7 |
64208306 |
missense |
probably damaging |
1.00 |
|
R5017:Trpm1
|
UTSW |
7 |
64244832 |
unclassified |
probably benign |
|
|
R5030:Trpm1
|
UTSW |
7 |
64235831 |
missense |
probably damaging |
1.00 |
|
R5195:Trpm1
|
UTSW |
7 |
64237693 |
missense |
possibly damaging |
0.84 |
|
R5238:Trpm1
|
UTSW |
7 |
64268954 |
missense |
probably damaging |
1.00 |
|
R5304:Trpm1
|
UTSW |
7 |
64208946 |
missense |
probably benign |
0.00 |
|
R5575:Trpm1
|
UTSW |
7 |
64220270 |
missense |
possibly damaging |
0.95 |
|
R5613:Trpm1
|
UTSW |
7 |
64208411 |
missense |
probably damaging |
1.00 |
|
R5855:Trpm1
|
UTSW |
7 |
64268962 |
nonsense |
probably null |
|
|
R5947:Trpm1
|
UTSW |
7 |
64223799 |
missense |
probably benign |
0.07 |
|
R5988:Trpm1
|
UTSW |
7 |
64226805 |
missense |
probably benign |
0.16 |
|
R6054:Trpm1
|
UTSW |
7 |
64268702 |
missense |
probably benign |
0.00 |
|
R6088:Trpm1
|
UTSW |
7 |
64267976 |
missense |
probably damaging |
0.98 |
|
R6259:Trpm1
|
UTSW |
7 |
64268478 |
missense |
possibly damaging |
0.47 |
|
R6379:Trpm1
|
UTSW |
7 |
64199194 |
missense |
probably benign |
0.00 |
|
R6380:Trpm1
|
UTSW |
7 |
64268297 |
missense |
probably benign |
0.24 |
|
R6429:Trpm1
|
UTSW |
7 |
64268504 |
missense |
probably benign |
0.00 |
|
R6600:Trpm1
|
UTSW |
7 |
64154033 |
start codon destroyed |
probably null |
0.56 |
|
R6622:Trpm1
|
UTSW |
7 |
64240595 |
missense |
probably damaging |
0.96 |
|
R6939:Trpm1
|
UTSW |
7 |
64268297 |
missense |
probably benign |
0.03 |
|
R6944:Trpm1
|
UTSW |
7 |
64243433 |
missense |
probably damaging |
1.00 |
|
R7025:Trpm1
|
UTSW |
7 |
64226714 |
critical splice acceptor site |
probably null |
|
|
R7112:Trpm1
|
UTSW |
7 |
64235845 |
missense |
probably damaging |
0.97 |
|
R7168:Trpm1
|
UTSW |
7 |
64268697 |
missense |
probably benign |
0.01 |
|
R7219:Trpm1
|
UTSW |
7 |
64204585 |
missense |
possibly damaging |
0.68 |
|
R7224:Trpm1
|
UTSW |
7 |
64219106 |
critical splice acceptor site |
probably null |
|
|
R7285:Trpm1
|
UTSW |
7 |
64209981 |
nonsense |
probably null |
|
|
R7367:Trpm1
|
UTSW |
7 |
64268801 |
missense |
probably benign |
0.06 |
|
R7449:Trpm1
|
UTSW |
7 |
64208975 |
missense |
probably benign |
0.14 |
|
R7466:Trpm1
|
UTSW |
7 |
64240582 |
missense |
probably damaging |
0.99 |
|
R7498:Trpm1
|
UTSW |
7 |
64208909 |
missense |
possibly damaging |
0.93 |
|
R7581:Trpm1
|
UTSW |
7 |
64204555 |
missense |
probably benign |
0.00 |
|
R7776:Trpm1
|
UTSW |
7 |
64248191 |
missense |
probably benign |
0.04 |
|
R8062:Trpm1
|
UTSW |
7 |
64201941 |
missense |
probably benign |
0.18 |
|
R8069:Trpm1
|
UTSW |
7 |
64208970 |
missense |
possibly damaging |
0.55 |
|
R8157:Trpm1
|
UTSW |
7 |
64199269 |
missense |
probably damaging |
1.00 |
|
R8219:Trpm1
|
UTSW |
7 |
64201951 |
missense |
probably benign |
0.35 |
|
R8258:Trpm1
|
UTSW |
7 |
64269029 |
missense |
probably benign |
0.10 |
|
R8259:Trpm1
|
UTSW |
7 |
64269029 |
missense |
probably benign |
0.10 |
|
R8320:Trpm1
|
UTSW |
7 |
64268793 |
missense |
possibly damaging |
0.56 |
|
R8536:Trpm1
|
UTSW |
7 |
64247407 |
missense |
probably damaging |
1.00 |
|
R8544:Trpm1
|
UTSW |
7 |
64224608 |
splice site |
probably null |
|
|
R8813:Trpm1
|
UTSW |
7 |
64202008 |
missense |
possibly damaging |
0.68 |
|
R8912:Trpm1
|
UTSW |
7 |
64268880 |
missense |
probably benign |
0.06 |
|
R8954:Trpm1
|
UTSW |
7 |
64208341 |
missense |
probably damaging |
0.98 |
|
R9139:Trpm1
|
UTSW |
7 |
64199195 |
missense |
probably benign |
0.00 |
|
R9205:Trpm1
|
UTSW |
7 |
64240571 |
missense |
possibly damaging |
0.66 |
|
R9258:Trpm1
|
UTSW |
7 |
64234965 |
missense |
probably benign |
0.01 |
|
R9283:Trpm1
|
UTSW |
7 |
64223875 |
missense |
probably benign |
0.18 |
|
R9394:Trpm1
|
UTSW |
7 |
64268732 |
missense |
probably benign |
0.00 |
|
R9430:Trpm1
|
UTSW |
7 |
64223698 |
missense |
probably benign |
0.38 |
|
R9537:Trpm1
|
UTSW |
7 |
64153868 |
unclassified |
probably benign |
|
|
R9616:Trpm1
|
UTSW |
7 |
64208384 |
missense |
probably damaging |
0.99 |
|
R9774:Trpm1
|
UTSW |
7 |
64248293 |
missense |
possibly damaging |
0.90 |
|
X0026:Trpm1
|
UTSW |
7 |
64268910 |
missense |
probably benign |
0.05 |
|
Z1176:Trpm1
|
UTSW |
7 |
64203131 |
critical splice donor site |
probably null |
|
|
Z1176:Trpm1
|
UTSW |
7 |
64204594 |
critical splice donor site |
probably null |
|
|
Z1177:Trpm1
|
UTSW |
7 |
64217691 |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATGTGAGCTGCTTTGCC -3'
(R):5'- AGGGAAAACTCTCCAAGTGCC -3'
Sequencing Primer
(F):5'- AACAAGTCTTTCCTCCTAGAACTTG -3'
(R):5'- AAGTGCCCCTGTTAGCAAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation