Incidental Mutation 'R9430:Trpm1'
ID 712880
Institutional Source Beutler Lab
Gene Symbol Trpm1
Ensembl Gene ENSMUSG00000030523
Gene Name transient receptor potential cation channel, subfamily M, member 1
Synonyms Mlsn1, melastatin, 4732499L03Rik, LTRPC1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9430 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 63803583-63919523 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63873446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 567 (L567P)
Ref Sequence ENSEMBL: ENSMUSP00000082318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085222] [ENSMUST00000177102] [ENSMUST00000205348] [ENSMUST00000205731] [ENSMUST00000205994] [ENSMUST00000206263] [ENSMUST00000206277] [ENSMUST00000206314] [ENSMUST00000206706]
AlphaFold Q2TV84
Predicted Effect probably benign
Transcript: ENSMUST00000085222
AA Change: L567P

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000082318
Gene: ENSMUSG00000030523
AA Change: L567P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000177102
AA Change: L451P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134947
Gene: ENSMUSG00000030523
AA Change: L451P

DomainStartEndE-ValueType
low complexity region 67 79 N/A INTRINSIC
low complexity region 173 191 N/A INTRINSIC
low complexity region 340 375 N/A INTRINSIC
Blast:ANK 389 417 1e-5 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000205348
Predicted Effect probably benign
Transcript: ENSMUST00000205731
Predicted Effect probably benign
Transcript: ENSMUST00000205994
AA Change: L75P

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000206263
AA Change: L451P

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably damaging
Transcript: ENSMUST00000206277
AA Change: L567P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000206314
Predicted Effect probably benign
Transcript: ENSMUST00000206706
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A C 1: 59,231,198 (GRCm39) N804K probably benign Het
Arid5b C A 10: 68,022,087 (GRCm39) probably null Het
Brd2 T C 17: 34,331,610 (GRCm39) D779G unknown Het
Brox A T 1: 183,069,353 (GRCm39) V118E probably damaging Het
Ccdc137 A T 11: 120,349,530 (GRCm39) E76V probably damaging Het
Ccdc150 A G 1: 54,320,930 (GRCm39) K327E probably damaging Het
Ccdc171 A G 4: 83,522,362 (GRCm39) E342G probably damaging Het
Cd109 G A 9: 78,574,698 (GRCm39) probably null Het
Cep85 C A 4: 133,894,665 (GRCm39) R47L probably damaging Het
Cgrrf1 T A 14: 47,091,331 (GRCm39) V285E probably damaging Het
Ctu1 T C 7: 43,326,042 (GRCm39) S234P probably damaging Het
Dnah3 G A 7: 119,628,205 (GRCm39) T1484I probably damaging Het
Dusp16 G T 6: 134,737,829 (GRCm39) Q70K probably damaging Het
Eri3 T G 4: 117,439,868 (GRCm39) Y187* probably null Het
Evi2a T A 11: 79,418,523 (GRCm39) Y29F possibly damaging Het
Ext2 A G 2: 93,592,999 (GRCm39) S402P possibly damaging Het
Fam76a T A 4: 132,645,055 (GRCm39) Q60L probably damaging Het
Fat3 T C 9: 16,287,381 (GRCm39) N714S probably damaging Het
Fbxw24 T A 9: 109,439,038 (GRCm39) N179I probably damaging Het
Fras1 A G 5: 96,929,251 (GRCm39) N3885S probably benign Het
Grip2 A T 6: 91,784,265 (GRCm39) V12E probably benign Het
Gse1 A T 8: 121,299,049 (GRCm39) Y766F unknown Het
Herc1 C T 9: 66,325,785 (GRCm39) Q1420* probably null Het
Htr1f T A 16: 64,746,831 (GRCm39) I154F probably damaging Het
Hus1b G T 13: 31,131,587 (GRCm39) A24E probably damaging Het
Igkv17-127 A G 6: 67,838,441 (GRCm39) I51V probably damaging Het
Ilk G T 7: 105,390,072 (GRCm39) R149L probably benign Het
Inpp5b T A 4: 124,636,340 (GRCm39) V5E possibly damaging Het
Jak2 A T 19: 29,265,367 (GRCm39) S465C possibly damaging Het
Kif23 T C 9: 61,834,722 (GRCm39) T394A probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lama4 A G 10: 38,921,802 (GRCm39) D441G probably null Het
Ldhd A G 8: 112,356,680 (GRCm39) L27P possibly damaging Het
Lingo1 A G 9: 56,527,512 (GRCm39) I365T probably benign Het
Lyz2 C A 10: 117,118,077 (GRCm39) C24F possibly damaging Het
Map1b T A 13: 99,570,616 (GRCm39) T702S unknown Het
Map4 T A 9: 109,863,760 (GRCm39) D328E probably benign Het
Matn1 C T 4: 130,673,278 (GRCm39) T82M probably damaging Het
Mfrp T C 9: 44,014,570 (GRCm39) V239A probably damaging Het
Misp G T 10: 79,661,675 (GRCm39) V31F probably benign Het
Muc5ac C T 7: 141,362,569 (GRCm39) T1960I unknown Het
Myh2 T A 11: 67,070,359 (GRCm39) M434K probably benign Het
Myh3 T A 11: 66,982,726 (GRCm39) I815N possibly damaging Het
Myo18a A G 11: 77,709,410 (GRCm39) M507V possibly damaging Het
Nbas T A 12: 13,371,654 (GRCm39) S385T probably benign Het
Nepro G A 16: 44,552,460 (GRCm39) R319K possibly damaging Het
Nlrc3 A T 16: 3,783,396 (GRCm39) C53S probably benign Het
Nudt17 A G 3: 96,614,224 (GRCm39) probably null Het
Nwd2 T G 5: 63,964,665 (GRCm39) C1416W probably damaging Het
Ocln A C 13: 100,676,356 (GRCm39) F46V possibly damaging Het
Or52n3 A T 7: 104,530,204 (GRCm39) N97Y possibly damaging Het
Or5be3 A T 2: 86,864,253 (GRCm39) V104D probably damaging Het
Osbpl5 T C 7: 143,263,526 (GRCm39) K119R probably benign Het
Paf1 T G 7: 28,096,331 (GRCm39) F315V possibly damaging Het
Parp4 T A 14: 56,866,673 (GRCm39) V1079D probably damaging Het
Pcgf6 C T 19: 47,039,219 (GRCm39) A14T unknown Het
Plcxd1 A G 5: 110,251,368 (GRCm39) T315A probably benign Het
Plxnc1 A G 10: 94,758,544 (GRCm39) V384A probably benign Het
Polm G A 11: 5,784,749 (GRCm39) T236I probably damaging Het
Prl7d1 T C 13: 27,898,360 (GRCm39) T50A possibly damaging Het
Reln T C 5: 22,120,105 (GRCm39) D2849G probably damaging Het
Sec16b C T 1: 157,394,894 (GRCm39) R1045C probably damaging Het
Six4 A G 12: 73,150,719 (GRCm39) S609P possibly damaging Het
Slc25a31 A T 3: 40,679,297 (GRCm39) probably null Het
Slc4a2 A G 5: 24,636,317 (GRCm39) N230S probably benign Het
Sorcs1 T C 19: 50,199,208 (GRCm39) Y785C probably damaging Het
Styxl1 A G 5: 135,784,259 (GRCm39) probably null Het
Synm C T 7: 67,383,181 (GRCm39) V1494M possibly damaging Het
Taf7l2 A T 10: 115,949,282 (GRCm39) D81E probably damaging Het
Tamm41 A G 6: 114,993,063 (GRCm39) M230T probably benign Het
Tbc1d12 T G 19: 38,884,490 (GRCm39) M347R probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tm4sf1 A C 3: 57,197,214 (GRCm39) S164A probably damaging Het
Trim67 A G 8: 125,552,956 (GRCm39) H686R probably damaging Het
Tsfm A G 10: 126,858,771 (GRCm39) L198P probably damaging Het
Ttc6 A T 12: 57,733,193 (GRCm39) D1112V probably damaging Het
Ttn A G 2: 76,601,922 (GRCm39) V18580A probably benign Het
Ubr1 C A 2: 120,734,506 (GRCm39) Q1131H possibly damaging Het
Uhrf2 C T 19: 30,016,659 (GRCm39) R117C probably benign Het
Vmn2r70 A G 7: 85,215,240 (GRCm39) V98A probably benign Het
Zfp799 T C 17: 33,039,186 (GRCm39) E360G probably damaging Het
Other mutations in Trpm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Trpm1 APN 7 63,893,198 (GRCm39) missense probably damaging 1.00
IGL00465:Trpm1 APN 7 63,897,215 (GRCm39) missense possibly damaging 0.94
IGL01118:Trpm1 APN 7 63,885,572 (GRCm39) missense probably benign 0.24
IGL01148:Trpm1 APN 7 63,893,312 (GRCm39) missense probably damaging 1.00
IGL01303:Trpm1 APN 7 63,860,578 (GRCm39) critical splice acceptor site probably benign 0.00
IGL01432:Trpm1 APN 7 63,884,767 (GRCm39) missense probably benign 0.18
IGL01433:Trpm1 APN 7 63,854,276 (GRCm39) missense probably damaging 1.00
IGL01506:Trpm1 APN 7 63,893,329 (GRCm39) missense probably damaging 1.00
IGL01626:Trpm1 APN 7 63,918,637 (GRCm39) missense probably damaging 1.00
IGL01640:Trpm1 APN 7 63,876,645 (GRCm39) missense probably damaging 1.00
IGL01899:Trpm1 APN 7 63,884,742 (GRCm39) missense probably benign 0.24
IGL01959:Trpm1 APN 7 63,858,723 (GRCm39) missense possibly damaging 0.81
IGL02210:Trpm1 APN 7 63,860,613 (GRCm39) missense probably damaging 1.00
IGL02268:Trpm1 APN 7 63,867,362 (GRCm39) missense probably damaging 0.96
IGL02331:Trpm1 APN 7 63,884,800 (GRCm39) missense probably benign 0.30
IGL02334:Trpm1 APN 7 63,895,690 (GRCm39) critical splice acceptor site probably null
IGL02407:Trpm1 APN 7 63,868,869 (GRCm39) missense probably damaging 1.00
IGL02425:Trpm1 APN 7 63,890,175 (GRCm39) missense probably damaging 0.96
IGL02485:Trpm1 APN 7 63,918,862 (GRCm39) missense possibly damaging 0.52
IGL02635:Trpm1 APN 7 63,848,972 (GRCm39) missense probably benign 0.00
IGL02640:Trpm1 APN 7 63,868,881 (GRCm39) missense probably damaging 0.97
IGL02827:Trpm1 APN 7 63,868,908 (GRCm39) missense probably null 1.00
PIT4458001:Trpm1 UTSW 7 63,918,309 (GRCm39) missense possibly damaging 0.94
PIT4544001:Trpm1 UTSW 7 63,848,998 (GRCm39) intron probably benign
R0012:Trpm1 UTSW 7 63,918,339 (GRCm39) missense possibly damaging 0.88
R0014:Trpm1 UTSW 7 63,897,970 (GRCm39) missense probably damaging 1.00
R0056:Trpm1 UTSW 7 63,893,334 (GRCm39) missense probably damaging 1.00
R0445:Trpm1 UTSW 7 63,894,590 (GRCm39) unclassified probably benign
R0463:Trpm1 UTSW 7 63,870,002 (GRCm39) missense probably benign 0.05
R0469:Trpm1 UTSW 7 63,873,506 (GRCm39) missense probably damaging 1.00
R0510:Trpm1 UTSW 7 63,873,506 (GRCm39) missense probably damaging 1.00
R1301:Trpm1 UTSW 7 63,852,801 (GRCm39) splice site probably null
R1397:Trpm1 UTSW 7 63,867,406 (GRCm39) missense probably damaging 1.00
R1588:Trpm1 UTSW 7 63,873,565 (GRCm39) missense possibly damaging 0.93
R1618:Trpm1 UTSW 7 63,890,283 (GRCm39) missense probably damaging 1.00
R1724:Trpm1 UTSW 7 63,885,569 (GRCm39) nonsense probably null
R1827:Trpm1 UTSW 7 63,884,755 (GRCm39) missense probably damaging 1.00
R1829:Trpm1 UTSW 7 63,876,530 (GRCm39) missense probably damaging 1.00
R1835:Trpm1 UTSW 7 63,880,016 (GRCm39) missense probably damaging 1.00
R1864:Trpm1 UTSW 7 63,917,764 (GRCm39) missense probably damaging 1.00
R1895:Trpm1 UTSW 7 63,873,556 (GRCm39) missense probably damaging 1.00
R1946:Trpm1 UTSW 7 63,873,556 (GRCm39) missense probably damaging 1.00
R1959:Trpm1 UTSW 7 63,879,978 (GRCm39) missense probably damaging 1.00
R1960:Trpm1 UTSW 7 63,879,978 (GRCm39) missense probably damaging 1.00
R1980:Trpm1 UTSW 7 63,858,182 (GRCm39) missense possibly damaging 0.83
R1989:Trpm1 UTSW 7 63,858,780 (GRCm39) intron probably null
R2054:Trpm1 UTSW 7 63,890,303 (GRCm39) missense possibly damaging 0.69
R2156:Trpm1 UTSW 7 63,884,736 (GRCm39) missense probably damaging 1.00
R2251:Trpm1 UTSW 7 63,859,724 (GRCm39) missense probably damaging 1.00
R3051:Trpm1 UTSW 7 63,918,849 (GRCm39) missense probably damaging 1.00
R3148:Trpm1 UTSW 7 63,884,760 (GRCm39) missense probably benign 0.00
R3195:Trpm1 UTSW 7 63,849,061 (GRCm39) nonsense probably null
R3615:Trpm1 UTSW 7 63,893,318 (GRCm39) missense probably damaging 1.00
R3616:Trpm1 UTSW 7 63,893,318 (GRCm39) missense probably damaging 1.00
R3623:Trpm1 UTSW 7 63,894,601 (GRCm39) missense probably damaging 1.00
R3624:Trpm1 UTSW 7 63,894,601 (GRCm39) missense probably damaging 1.00
R3721:Trpm1 UTSW 7 63,867,475 (GRCm39) intron probably benign
R3822:Trpm1 UTSW 7 63,867,451 (GRCm39) intron probably benign
R4441:Trpm1 UTSW 7 63,851,666 (GRCm39) missense probably damaging 1.00
R4490:Trpm1 UTSW 7 63,858,660 (GRCm39) nonsense probably null
R4666:Trpm1 UTSW 7 63,852,782 (GRCm39) missense probably damaging 1.00
R4701:Trpm1 UTSW 7 63,893,248 (GRCm39) missense probably damaging 1.00
R4781:Trpm1 UTSW 7 63,884,800 (GRCm39) missense probably benign 0.30
R4811:Trpm1 UTSW 7 63,858,054 (GRCm39) missense probably damaging 1.00
R5017:Trpm1 UTSW 7 63,894,580 (GRCm39) unclassified probably benign
R5030:Trpm1 UTSW 7 63,885,579 (GRCm39) missense probably damaging 1.00
R5195:Trpm1 UTSW 7 63,887,441 (GRCm39) missense possibly damaging 0.84
R5238:Trpm1 UTSW 7 63,918,702 (GRCm39) missense probably damaging 1.00
R5304:Trpm1 UTSW 7 63,858,694 (GRCm39) missense probably benign 0.00
R5575:Trpm1 UTSW 7 63,870,018 (GRCm39) missense possibly damaging 0.95
R5613:Trpm1 UTSW 7 63,858,159 (GRCm39) missense probably damaging 1.00
R5855:Trpm1 UTSW 7 63,918,710 (GRCm39) nonsense probably null
R5947:Trpm1 UTSW 7 63,873,547 (GRCm39) missense probably benign 0.07
R5988:Trpm1 UTSW 7 63,876,553 (GRCm39) missense probably benign 0.16
R6054:Trpm1 UTSW 7 63,918,450 (GRCm39) missense probably benign 0.00
R6088:Trpm1 UTSW 7 63,917,724 (GRCm39) missense probably damaging 0.98
R6259:Trpm1 UTSW 7 63,918,226 (GRCm39) missense possibly damaging 0.47
R6379:Trpm1 UTSW 7 63,848,942 (GRCm39) missense probably benign 0.00
R6380:Trpm1 UTSW 7 63,918,045 (GRCm39) missense probably benign 0.24
R6429:Trpm1 UTSW 7 63,918,252 (GRCm39) missense probably benign 0.00
R6600:Trpm1 UTSW 7 63,803,781 (GRCm39) start codon destroyed probably null 0.56
R6622:Trpm1 UTSW 7 63,890,343 (GRCm39) missense probably damaging 0.96
R6939:Trpm1 UTSW 7 63,918,045 (GRCm39) missense probably benign 0.03
R6944:Trpm1 UTSW 7 63,893,181 (GRCm39) missense probably damaging 1.00
R7025:Trpm1 UTSW 7 63,876,462 (GRCm39) critical splice acceptor site probably null
R7112:Trpm1 UTSW 7 63,885,593 (GRCm39) missense probably damaging 0.97
R7168:Trpm1 UTSW 7 63,918,445 (GRCm39) missense probably benign 0.01
R7219:Trpm1 UTSW 7 63,854,333 (GRCm39) missense possibly damaging 0.68
R7224:Trpm1 UTSW 7 63,868,854 (GRCm39) critical splice acceptor site probably null
R7285:Trpm1 UTSW 7 63,859,729 (GRCm39) nonsense probably null
R7367:Trpm1 UTSW 7 63,918,549 (GRCm39) missense probably benign 0.06
R7449:Trpm1 UTSW 7 63,858,723 (GRCm39) missense probably benign 0.14
R7466:Trpm1 UTSW 7 63,890,330 (GRCm39) missense probably damaging 0.99
R7498:Trpm1 UTSW 7 63,858,657 (GRCm39) missense possibly damaging 0.93
R7581:Trpm1 UTSW 7 63,854,303 (GRCm39) missense probably benign 0.00
R7776:Trpm1 UTSW 7 63,897,939 (GRCm39) missense probably benign 0.04
R8062:Trpm1 UTSW 7 63,851,689 (GRCm39) missense probably benign 0.18
R8069:Trpm1 UTSW 7 63,858,718 (GRCm39) missense possibly damaging 0.55
R8157:Trpm1 UTSW 7 63,849,017 (GRCm39) missense probably damaging 1.00
R8219:Trpm1 UTSW 7 63,851,699 (GRCm39) missense probably benign 0.35
R8258:Trpm1 UTSW 7 63,918,777 (GRCm39) missense probably benign 0.10
R8259:Trpm1 UTSW 7 63,918,777 (GRCm39) missense probably benign 0.10
R8320:Trpm1 UTSW 7 63,918,541 (GRCm39) missense possibly damaging 0.56
R8536:Trpm1 UTSW 7 63,897,155 (GRCm39) missense probably damaging 1.00
R8544:Trpm1 UTSW 7 63,874,356 (GRCm39) splice site probably null
R8813:Trpm1 UTSW 7 63,851,756 (GRCm39) missense possibly damaging 0.68
R8912:Trpm1 UTSW 7 63,918,628 (GRCm39) missense probably benign 0.06
R8954:Trpm1 UTSW 7 63,858,089 (GRCm39) missense probably damaging 0.98
R9139:Trpm1 UTSW 7 63,848,943 (GRCm39) missense probably benign 0.00
R9205:Trpm1 UTSW 7 63,890,319 (GRCm39) missense possibly damaging 0.66
R9258:Trpm1 UTSW 7 63,884,713 (GRCm39) missense probably benign 0.01
R9283:Trpm1 UTSW 7 63,873,623 (GRCm39) missense probably benign 0.18
R9394:Trpm1 UTSW 7 63,918,480 (GRCm39) missense probably benign 0.00
R9537:Trpm1 UTSW 7 63,803,616 (GRCm39) unclassified probably benign
R9616:Trpm1 UTSW 7 63,858,132 (GRCm39) missense probably damaging 0.99
R9774:Trpm1 UTSW 7 63,898,041 (GRCm39) missense possibly damaging 0.90
X0026:Trpm1 UTSW 7 63,918,658 (GRCm39) missense probably benign 0.05
Z1176:Trpm1 UTSW 7 63,854,342 (GRCm39) critical splice donor site probably null
Z1176:Trpm1 UTSW 7 63,852,879 (GRCm39) critical splice donor site probably null
Z1177:Trpm1 UTSW 7 63,867,439 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTGATCACTCTATCTGGCCAC -3'
(R):5'- ACCACATGTTACTCTGGGAGG -3'

Sequencing Primer
(F):5'- CACAGGTGTGCCATGGACTCTATAG -3'
(R):5'- CATGTTACTCTGGGAGGCACAG -3'
Posted On 2022-05-16