Incidental Mutation 'R2249:Trpm3'
ID 240811
Institutional Source Beutler Lab
Gene Symbol Trpm3
Ensembl Gene ENSMUSG00000052387
Gene Name transient receptor potential cation channel, subfamily M, member 3
Synonyms 6330504P12Rik, LTRPC3, melastatin 2, B930001P07Rik, MLSN2
MMRRC Submission 040249-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R2249 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 22116410-22972774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22710398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 281 (M281T)
Ref Sequence ENSEMBL: ENSMUSP00000097164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037901] [ENSMUST00000074770] [ENSMUST00000087576] [ENSMUST00000099564] [ENSMUST00000099566] [ENSMUST00000099569]
AlphaFold J9S314
Predicted Effect probably benign
Transcript: ENSMUST00000037901
AA Change: M279T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042184
Gene: ENSMUSG00000052387
AA Change: M279T

DomainStartEndE-ValueType
Blast:ANK 485 514 1e-6 BLAST
low complexity region 619 631 N/A INTRINSIC
low complexity region 674 689 N/A INTRINSIC
low complexity region 788 800 N/A INTRINSIC
low complexity region 821 840 N/A INTRINSIC
Pfam:Ion_trans 883 1136 1.7e-19 PFAM
Pfam:TRPM_tetra 1227 1282 1.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074770
AA Change: M281T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074328
Gene: ENSMUSG00000052387
AA Change: M281T

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
Blast:ANK 487 516 5e-7 BLAST
low complexity region 611 623 N/A INTRINSIC
low complexity region 666 681 N/A INTRINSIC
low complexity region 780 792 N/A INTRINSIC
low complexity region 813 832 N/A INTRINSIC
transmembrane domain 874 896 N/A INTRINSIC
Pfam:Ion_trans 908 1116 5.1e-14 PFAM
low complexity region 1378 1388 N/A INTRINSIC
low complexity region 1433 1455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087576
AA Change: M281T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084857
Gene: ENSMUSG00000052387
AA Change: M281T

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
Blast:ANK 487 516 5e-7 BLAST
low complexity region 621 633 N/A INTRINSIC
low complexity region 676 691 N/A INTRINSIC
low complexity region 790 802 N/A INTRINSIC
low complexity region 823 842 N/A INTRINSIC
transmembrane domain 884 906 N/A INTRINSIC
Pfam:Ion_trans 918 1126 5.1e-14 PFAM
low complexity region 1388 1398 N/A INTRINSIC
low complexity region 1443 1465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099564
AA Change: M126T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097160
Gene: ENSMUSG00000052387
AA Change: M126T

DomainStartEndE-ValueType
low complexity region 451 463 N/A INTRINSIC
low complexity region 506 521 N/A INTRINSIC
low complexity region 620 632 N/A INTRINSIC
low complexity region 653 672 N/A INTRINSIC
transmembrane domain 714 736 N/A INTRINSIC
Pfam:Ion_trans 748 919 1.5e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099566
AA Change: M126T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000099569
AA Change: M281T

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097164
Gene: ENSMUSG00000052387
AA Change: M281T

DomainStartEndE-ValueType
low complexity region 16 33 N/A INTRINSIC
Blast:ANK 487 516 6e-7 BLAST
low complexity region 609 621 N/A INTRINSIC
low complexity region 664 679 N/A INTRINSIC
low complexity region 778 790 N/A INTRINSIC
low complexity region 811 830 N/A INTRINSIC
Pfam:Ion_trans 873 1138 3.2e-19 PFAM
Pfam:TRPM_tetra 1229 1284 4.4e-26 PFAM
low complexity region 1388 1398 N/A INTRINSIC
low complexity region 1443 1465 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display impaired thermal and chemical nociception. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b G A 15: 101,100,975 (GRCm39) R379Q probably null Het
Adam23 C T 1: 63,574,335 (GRCm39) Q276* probably null Het
Apob A T 12: 8,057,499 (GRCm39) S1961C probably damaging Het
Atxn7l1 C T 12: 33,408,839 (GRCm39) P334S probably damaging Het
Ccnb1 T C 13: 100,917,827 (GRCm39) M258V possibly damaging Het
Cd34 A C 1: 194,630,260 (GRCm39) T65P possibly damaging Het
Cog6 A G 3: 52,907,900 (GRCm39) probably null Het
Cp T C 3: 20,041,734 (GRCm39) M953T probably damaging Het
Cwc27 C T 13: 104,768,130 (GRCm39) R455Q unknown Het
Dhx57 A T 17: 80,588,663 (GRCm39) D63E probably damaging Het
Elapor1 A T 3: 108,378,726 (GRCm39) Y409* probably null Het
Flt4 T A 11: 49,536,786 (GRCm39) M1252K possibly damaging Het
Gfral C T 9: 76,100,631 (GRCm39) C269Y probably damaging Het
Itih4 C T 14: 30,621,351 (GRCm39) Q788* probably null Het
Kif18b A G 11: 102,803,214 (GRCm39) S499P probably benign Het
Map1a G C 2: 121,130,768 (GRCm39) R528P probably damaging Het
Map3k5 T C 10: 20,003,443 (GRCm39) F1152L probably damaging Het
Marveld2 T C 13: 100,748,599 (GRCm39) D160G probably benign Het
Mtcl2 A T 2: 156,882,013 (GRCm39) C680S probably benign Het
Mug1 A T 6: 121,847,469 (GRCm39) M616L probably benign Het
Ndst4 A T 3: 125,231,823 (GRCm39) I131F probably benign Het
Neto1 G T 18: 86,479,399 (GRCm39) A196S probably benign Het
Notum A G 11: 120,545,237 (GRCm39) F441L probably benign Het
Nsmce4a A G 7: 130,140,769 (GRCm39) I239T probably benign Het
Or51g1 A T 7: 102,633,647 (GRCm39) N241K possibly damaging Het
Or52z14 T A 7: 103,252,943 (GRCm39) D27E probably benign Het
Or5d35 A T 2: 87,855,707 (GRCm39) I214F probably damaging Het
Or6s1 T A 14: 51,307,870 (GRCm39) K327* probably null Het
Or6x1 A T 9: 40,098,980 (GRCm39) T190S possibly damaging Het
Or8k40 A G 2: 86,584,398 (GRCm39) M228T probably damaging Het
Pde4dip A T 3: 97,700,841 (GRCm39) V221D probably damaging Het
Pkp1 T C 1: 135,808,545 (GRCm39) Y474C probably damaging Het
Ptk6 A C 2: 180,838,173 (GRCm39) H363Q probably benign Het
Rb1cc1 T C 1: 6,342,948 (GRCm39) W187R probably damaging Het
Rbfox3 A T 11: 118,394,564 (GRCm39) F132L probably damaging Het
Rcl1 A T 19: 29,099,268 (GRCm39) I188F possibly damaging Het
Scfd1 T A 12: 51,462,299 (GRCm39) S385T possibly damaging Het
Sema6d A G 2: 124,501,508 (GRCm39) E483G possibly damaging Het
Semp2l2b T C 10: 21,943,015 (GRCm39) I322V possibly damaging Het
Sipa1l1 T C 12: 82,388,890 (GRCm39) V372A probably benign Het
Slc17a6 G A 7: 51,317,654 (GRCm39) G429D probably damaging Het
Slc22a5 A G 11: 53,774,532 (GRCm39) V151A possibly damaging Het
Spidr T C 16: 15,936,787 (GRCm39) D106G probably damaging Het
Tekt3 A T 11: 62,974,778 (GRCm39) T366S probably benign Het
Ttn A G 2: 76,782,485 (GRCm39) V917A probably damaging Het
Tubgcp4 A T 2: 121,014,110 (GRCm39) D221V possibly damaging Het
Ubr4 C T 4: 139,176,232 (GRCm39) R3153W probably damaging Het
Vmn1r89 A C 7: 12,954,187 (GRCm39) T308P possibly damaging Het
Vmn2r59 A G 7: 41,708,326 (GRCm39) I27T probably benign Het
Vps13c T G 9: 67,895,335 (GRCm39) probably null Het
Zfp142 A G 1: 74,606,191 (GRCm39) V1793A probably damaging Het
Zfp472 T A 17: 33,197,109 (GRCm39) C395S possibly damaging Het
Other mutations in Trpm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Trpm3 APN 19 22,965,023 (GRCm39) missense probably benign 0.00
IGL00773:Trpm3 APN 19 22,877,523 (GRCm39) missense possibly damaging 0.92
IGL00852:Trpm3 APN 19 22,964,435 (GRCm39) missense possibly damaging 0.93
IGL01597:Trpm3 APN 19 22,692,610 (GRCm39) missense probably damaging 1.00
IGL01607:Trpm3 APN 19 22,964,491 (GRCm39) missense probably benign 0.01
IGL01818:Trpm3 APN 19 22,891,838 (GRCm39) missense probably damaging 1.00
IGL01890:Trpm3 APN 19 22,689,083 (GRCm39) missense probably damaging 0.98
IGL02016:Trpm3 APN 19 22,879,433 (GRCm39) nonsense probably null
IGL02324:Trpm3 APN 19 22,676,143 (GRCm39) missense probably benign 0.25
IGL02947:Trpm3 APN 19 22,878,483 (GRCm39) missense probably damaging 0.99
IGL03037:Trpm3 APN 19 22,866,776 (GRCm39) missense possibly damaging 0.85
IGL03128:Trpm3 APN 19 22,891,829 (GRCm39) missense probably damaging 1.00
IGL03335:Trpm3 APN 19 22,903,435 (GRCm39) critical splice donor site probably null
IGL03354:Trpm3 APN 19 22,834,082 (GRCm39) missense probably damaging 1.00
bit UTSW 19 22,965,233 (GRCm39) missense probably benign 0.00
G1patch:Trpm3 UTSW 19 22,903,392 (GRCm39) missense probably damaging 1.00
P0041:Trpm3 UTSW 19 22,875,050 (GRCm39) missense probably benign 0.01
R0001:Trpm3 UTSW 19 22,692,695 (GRCm39) missense possibly damaging 0.70
R0007:Trpm3 UTSW 19 22,964,893 (GRCm39) missense probably benign 0.00
R0007:Trpm3 UTSW 19 22,964,893 (GRCm39) missense probably benign 0.00
R0009:Trpm3 UTSW 19 22,891,810 (GRCm39) missense probably damaging 1.00
R0009:Trpm3 UTSW 19 22,891,810 (GRCm39) missense probably damaging 1.00
R0142:Trpm3 UTSW 19 22,965,280 (GRCm39) missense probably damaging 0.98
R0194:Trpm3 UTSW 19 22,692,720 (GRCm39) splice site probably null
R0268:Trpm3 UTSW 19 22,874,885 (GRCm39) critical splice donor site probably null
R0299:Trpm3 UTSW 19 22,964,237 (GRCm39) missense possibly damaging 0.62
R0449:Trpm3 UTSW 19 22,965,418 (GRCm39) missense probably benign
R0481:Trpm3 UTSW 19 22,878,435 (GRCm39) missense possibly damaging 0.51
R0496:Trpm3 UTSW 19 22,676,142 (GRCm39) missense probably benign 0.00
R0499:Trpm3 UTSW 19 22,964,237 (GRCm39) missense possibly damaging 0.62
R0550:Trpm3 UTSW 19 22,965,176 (GRCm39) missense probably damaging 0.97
R0729:Trpm3 UTSW 19 22,965,153 (GRCm39) missense probably benign
R0883:Trpm3 UTSW 19 22,956,018 (GRCm39) missense probably damaging 1.00
R0926:Trpm3 UTSW 19 22,965,407 (GRCm39) missense probably benign 0.02
R1185:Trpm3 UTSW 19 22,891,781 (GRCm39) splice site probably benign
R1185:Trpm3 UTSW 19 22,891,781 (GRCm39) splice site probably benign
R1513:Trpm3 UTSW 19 22,964,236 (GRCm39) missense possibly damaging 0.96
R1521:Trpm3 UTSW 19 22,878,585 (GRCm39) missense probably damaging 1.00
R1522:Trpm3 UTSW 19 22,955,698 (GRCm39) missense probably benign 0.39
R1569:Trpm3 UTSW 19 22,866,809 (GRCm39) critical splice donor site probably null
R1598:Trpm3 UTSW 19 22,710,388 (GRCm39) missense possibly damaging 0.47
R1600:Trpm3 UTSW 19 22,116,519 (GRCm39) missense probably benign 0.00
R1616:Trpm3 UTSW 19 22,960,076 (GRCm39) missense probably damaging 1.00
R1619:Trpm3 UTSW 19 22,689,271 (GRCm39) missense probably damaging 0.99
R1923:Trpm3 UTSW 19 22,862,776 (GRCm39) missense probably damaging 1.00
R1985:Trpm3 UTSW 19 22,903,446 (GRCm39) missense possibly damaging 0.56
R2002:Trpm3 UTSW 19 22,959,947 (GRCm39) missense probably damaging 1.00
R3719:Trpm3 UTSW 19 22,964,354 (GRCm39) missense possibly damaging 0.95
R3766:Trpm3 UTSW 19 22,425,741 (GRCm39) missense probably benign
R3774:Trpm3 UTSW 19 22,965,339 (GRCm39) missense probably benign 0.03
R3774:Trpm3 UTSW 19 22,955,966 (GRCm39) missense possibly damaging 0.66
R3776:Trpm3 UTSW 19 22,955,966 (GRCm39) missense possibly damaging 0.66
R3820:Trpm3 UTSW 19 22,964,813 (GRCm39) missense probably benign 0.00
R3899:Trpm3 UTSW 19 22,878,524 (GRCm39) missense possibly damaging 0.90
R4204:Trpm3 UTSW 19 22,964,928 (GRCm39) missense probably benign 0.00
R4238:Trpm3 UTSW 19 22,956,002 (GRCm39) missense probably damaging 1.00
R4301:Trpm3 UTSW 19 22,964,656 (GRCm39) missense probably benign 0.23
R4344:Trpm3 UTSW 19 22,875,061 (GRCm39) missense probably damaging 0.99
R4345:Trpm3 UTSW 19 22,875,061 (GRCm39) missense probably damaging 0.99
R4365:Trpm3 UTSW 19 22,955,694 (GRCm39) missense probably benign 0.00
R4510:Trpm3 UTSW 19 22,965,381 (GRCm39) missense probably benign 0.00
R4511:Trpm3 UTSW 19 22,965,381 (GRCm39) missense probably benign 0.00
R4565:Trpm3 UTSW 19 22,965,233 (GRCm39) missense probably benign 0.00
R4573:Trpm3 UTSW 19 22,879,506 (GRCm39) missense probably damaging 1.00
R4606:Trpm3 UTSW 19 22,955,988 (GRCm39) missense probably benign 0.26
R4677:Trpm3 UTSW 19 22,964,752 (GRCm39) missense possibly damaging 0.95
R4684:Trpm3 UTSW 19 22,965,145 (GRCm39) missense probably benign
R4713:Trpm3 UTSW 19 22,866,799 (GRCm39) missense possibly damaging 0.83
R4745:Trpm3 UTSW 19 22,692,659 (GRCm39) missense possibly damaging 0.67
R5015:Trpm3 UTSW 19 22,689,076 (GRCm39) missense probably damaging 1.00
R5030:Trpm3 UTSW 19 22,676,130 (GRCm39) missense probably benign 0.01
R5074:Trpm3 UTSW 19 22,862,713 (GRCm39) missense possibly damaging 0.65
R5089:Trpm3 UTSW 19 22,744,120 (GRCm39) missense probably damaging 0.97
R5100:Trpm3 UTSW 19 22,896,130 (GRCm39) missense probably damaging 0.99
R5108:Trpm3 UTSW 19 22,882,078 (GRCm39) missense probably benign 0.06
R5204:Trpm3 UTSW 19 22,425,705 (GRCm39) nonsense probably null
R5213:Trpm3 UTSW 19 22,674,818 (GRCm39) nonsense probably null
R5358:Trpm3 UTSW 19 22,903,332 (GRCm39) missense probably damaging 1.00
R5374:Trpm3 UTSW 19 22,903,548 (GRCm39) nonsense probably null
R5382:Trpm3 UTSW 19 22,862,705 (GRCm39) splice site probably null
R5509:Trpm3 UTSW 19 22,964,622 (GRCm39) missense probably damaging 0.99
R5558:Trpm3 UTSW 19 22,955,937 (GRCm39) missense probably damaging 1.00
R6154:Trpm3 UTSW 19 22,965,178 (GRCm39) missense probably damaging 1.00
R6250:Trpm3 UTSW 19 22,887,418 (GRCm39) missense probably benign 0.01
R6433:Trpm3 UTSW 19 22,878,669 (GRCm39) missense probably damaging 1.00
R6542:Trpm3 UTSW 19 22,903,477 (GRCm39) missense probably benign 0.04
R6630:Trpm3 UTSW 19 22,965,347 (GRCm39) missense probably benign 0.00
R6640:Trpm3 UTSW 19 22,955,946 (GRCm39) missense probably damaging 1.00
R6725:Trpm3 UTSW 19 22,903,392 (GRCm39) missense probably damaging 1.00
R7275:Trpm3 UTSW 19 22,956,048 (GRCm39) missense possibly damaging 0.71
R7371:Trpm3 UTSW 19 22,879,557 (GRCm39) missense probably benign 0.27
R7467:Trpm3 UTSW 19 22,955,698 (GRCm39) missense possibly damaging 0.82
R7488:Trpm3 UTSW 19 22,955,937 (GRCm39) missense probably damaging 1.00
R7495:Trpm3 UTSW 19 22,875,160 (GRCm39) missense probably benign 0.28
R7600:Trpm3 UTSW 19 22,903,458 (GRCm39) missense possibly damaging 0.68
R7710:Trpm3 UTSW 19 22,896,154 (GRCm39) missense probably damaging 0.97
R7877:Trpm3 UTSW 19 22,882,148 (GRCm39) missense probably benign 0.25
R8184:Trpm3 UTSW 19 22,896,060 (GRCm39) missense possibly damaging 0.46
R8234:Trpm3 UTSW 19 22,692,640 (GRCm39) missense possibly damaging 0.47
R8236:Trpm3 UTSW 19 22,964,772 (GRCm39) missense probably benign 0.00
R8443:Trpm3 UTSW 19 22,676,226 (GRCm39) missense possibly damaging 0.90
R8470:Trpm3 UTSW 19 22,887,501 (GRCm39) missense possibly damaging 0.91
R8784:Trpm3 UTSW 19 22,896,040 (GRCm39) missense probably benign 0.07
R8816:Trpm3 UTSW 19 22,965,580 (GRCm39) missense probably damaging 0.97
R8818:Trpm3 UTSW 19 22,955,952 (GRCm39) missense possibly damaging 0.81
R8875:Trpm3 UTSW 19 22,887,493 (GRCm39) missense probably damaging 1.00
R8931:Trpm3 UTSW 19 22,744,034 (GRCm39) missense probably damaging 1.00
R8969:Trpm3 UTSW 19 22,903,308 (GRCm39) missense probably damaging 0.98
R8987:Trpm3 UTSW 19 22,896,124 (GRCm39) missense probably damaging 1.00
R9300:Trpm3 UTSW 19 22,955,745 (GRCm39) missense possibly damaging 0.49
R9327:Trpm3 UTSW 19 22,896,004 (GRCm39) missense possibly damaging 0.56
R9354:Trpm3 UTSW 19 22,425,696 (GRCm39) missense probably benign
R9514:Trpm3 UTSW 19 22,960,040 (GRCm39) missense probably benign 0.42
R9545:Trpm3 UTSW 19 22,878,458 (GRCm39) missense probably benign 0.24
R9712:Trpm3 UTSW 19 22,692,716 (GRCm39) missense possibly damaging 0.55
R9721:Trpm3 UTSW 19 22,866,762 (GRCm39) missense probably benign 0.00
R9750:Trpm3 UTSW 19 22,903,495 (GRCm39) missense probably benign 0.00
Z1176:Trpm3 UTSW 19 22,964,854 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGTCATCAGCACACAGGTC -3'
(R):5'- AGTTTTCCTCTCCTTGATGCATAGG -3'

Sequencing Primer
(F):5'- TCAGCACACAGGTCTTTAATATAATG -3'
(R):5'- TCTCCTTGATGCATAGGATACAC -3'
Posted On 2014-10-15