Incidental Mutation 'R7710:Trpm3'
ID 594576
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7710 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 22116410-22972774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 22896154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 997 (R997L)
Ref Sequence ENSEMBL: ENSMUSP00000084857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037901] [ENSMUST00000074770] [ENSMUST00000087576] [ENSMUST00000099564] [ENSMUST00000099569]
AlphaFold J9S314
Predicted Effect possibly damaging
Transcript: ENSMUST00000037901
AA Change: R995L

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042184
Gene: ENSMUSG00000052387
AA Change: R995L

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 possibly damaging
Transcript: ENSMUST00000074770
AA Change: R987L

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074328
Gene: ENSMUSG00000052387
AA Change: R987L

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 damaging
Transcript: ENSMUST00000087576
AA Change: R997L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084857
Gene: ENSMUSG00000052387
AA Change: R997L

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 possibly damaging
Transcript: ENSMUST00000099564
AA Change: R827L

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097160
Gene: ENSMUSG00000052387
AA Change: R827L

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 damaging
Transcript: ENSMUST00000099569
AA Change: R985L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097164
Gene: ENSMUSG00000052387
AA Change: R985L

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,150,810 (GRCm39) E151K Het
Ap3b1 T C 13: 94,587,581 (GRCm39) S452P probably damaging Het
Cacna2d4 A G 6: 119,251,200 (GRCm39) I463V probably benign Het
Calhm4 A T 10: 33,920,045 (GRCm39) M74K possibly damaging Het
Ccdc142 T C 6: 83,078,677 (GRCm39) S5P probably benign Het
Cd300ld C T 11: 114,875,038 (GRCm39) V199M probably damaging Het
Cep162 T C 9: 87,114,172 (GRCm39) Y300C probably damaging Het
Ces2h C T 8: 105,727,497 (GRCm39) Q5* probably null Het
Col9a3 C T 2: 180,251,158 (GRCm39) L310F probably damaging Het
Copa A G 1: 171,937,411 (GRCm39) D454G possibly damaging Het
Ctnnbip1 A C 4: 149,630,277 (GRCm39) M29L probably benign Het
Ctnnbl1 A G 2: 157,616,491 (GRCm39) D64G probably benign Het
Dcxr T A 11: 120,617,908 (GRCm39) T23S probably benign Het
Dennd1b T A 1: 138,990,670 (GRCm39) H211Q probably damaging Het
Ercc8 G A 13: 108,320,397 (GRCm39) A328T probably benign Het
Fam217a T C 13: 35,095,111 (GRCm39) D216G possibly damaging Het
Fat2 T A 11: 55,201,589 (GRCm39) Y495F probably benign Het
Fbxw13 G A 9: 109,024,968 (GRCm39) S15F probably damaging Het
Fras1 T A 5: 96,792,962 (GRCm39) C964* probably null Het
Fshr T A 17: 89,292,683 (GRCm39) H665L probably benign Het
Gm10447 A T 11: 53,347,437 (GRCm39) C31S unknown Het
Gm13272 A T 4: 88,698,586 (GRCm39) Q167L probably benign Het
Gtpbp2 T C 17: 46,478,713 (GRCm39) I510T possibly damaging Het
Hps6 G A 19: 45,993,007 (GRCm39) A315T probably benign Het
Igfbp6 A C 15: 102,056,285 (GRCm39) T115P probably damaging Het
Ikzf4 A G 10: 128,468,610 (GRCm39) V623A possibly damaging Het
Il11ra1 T C 4: 41,764,846 (GRCm39) V100A probably benign Het
Ints1 T C 5: 139,756,840 (GRCm39) T493A probably benign Het
Itgax C T 7: 127,735,028 (GRCm39) T453I probably benign Het
Kras T C 6: 145,166,354 (GRCm39) T183A probably benign Het
Lhcgr T C 17: 89,050,210 (GRCm39) T439A probably damaging Het
Lrrn4 T C 2: 132,721,451 (GRCm39) H122R probably benign Het
Muc2 A T 7: 141,287,452 (GRCm39) R210S possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myo18b T C 5: 113,022,891 (GRCm39) D167G unknown Het
Nedd8 G A 14: 55,909,446 (GRCm39) probably benign Het
Or5b94 A C 19: 12,652,340 (GRCm39) Y257S probably damaging Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Pbxip1 T A 3: 89,355,408 (GRCm39) D642E probably damaging Het
Pcdhb10 A T 18: 37,546,654 (GRCm39) R577* probably null Het
Pcna-ps2 T A 19: 9,261,489 (GRCm39) Y249* probably null Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pla2g6 A T 15: 79,171,358 (GRCm39) V744E probably damaging Het
Ppfibp1 A G 6: 146,897,903 (GRCm39) I207V probably benign Het
Prr11 T C 11: 86,994,433 (GRCm39) D71G probably benign Het
Rnf150 A C 8: 83,590,781 (GRCm39) Y48S probably damaging Het
Rsf1 G A 7: 97,331,041 (GRCm39) G1237D Het
Rusc2 C T 4: 43,416,119 (GRCm39) T475I probably benign Het
Scgb1b20 T A 7: 33,072,867 (GRCm39) I25N probably damaging Het
Sdr39u1 T C 14: 56,137,116 (GRCm39) N65S probably benign Het
Sh3gl3 T C 7: 81,933,294 (GRCm39) V219A possibly damaging Het
Shcbp1 A G 8: 4,814,965 (GRCm39) F171S probably benign Het
Shq1 A G 6: 100,648,006 (GRCm39) F6S probably damaging Het
Slc12a4 C T 8: 106,672,203 (GRCm39) R868H possibly damaging Het
Smg6 T C 11: 74,821,445 (GRCm39) V572A probably benign Het
Syn3 A G 10: 86,243,534 (GRCm39) V135A probably damaging Het
Tars3 A T 7: 65,314,717 (GRCm39) D425V probably benign Het
Tmem253 A T 14: 52,254,608 (GRCm39) Q21L possibly damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Ugt1a9 A G 1: 87,998,831 (GRCm39) T94A probably benign Het
Vmn1r62 A G 7: 5,678,182 (GRCm39) probably benign Het
Vmn2r61 T C 7: 41,916,472 (GRCm39) C362R probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp94 T C 7: 24,003,107 (GRCm39) K112E probably benign Het
Zfp954 A T 7: 7,120,889 (GRCm39) V47E probably 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
R2249:Trpm3 UTSW 19 22,710,398 (GRCm39) missense probably benign 0.15
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
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'- GAAAGCACTTACCAGCTGAGC -3'
(R):5'- TCTCCTGCAGACCTTGGTAG -3'

Sequencing Primer
(F):5'- TAGATCCTGATGTCGGAGCC -3'
(R):5'- TGCAGACCTTGGTAGCAAATC -3'
Posted On 2019-11-12