Incidental Mutation 'R5358:Trpm3'
ID 424215
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 042937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5358 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 22116410-22972774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22903332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1031 (I1031F)
Ref Sequence ENSEMBL: ENSMUSP00000097164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037901] [ENSMUST00000074770] [ENSMUST00000087576] [ENSMUST00000099564] [ENSMUST00000099569]
AlphaFold J9S314
Predicted Effect probably damaging
Transcript: ENSMUST00000037901
AA Change: I1041F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042184
Gene: ENSMUSG00000052387
AA Change: I1041F

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 damaging
Transcript: ENSMUST00000074770
AA Change: I1033F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074328
Gene: ENSMUSG00000052387
AA Change: I1033F

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: I1043F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084857
Gene: ENSMUSG00000052387
AA Change: I1043F

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 damaging
Transcript: ENSMUST00000099564
AA Change: I873F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097160
Gene: ENSMUSG00000052387
AA Change: I873F

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: I1031F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097164
Gene: ENSMUSG00000052387
AA Change: I1031F

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,849,165 (GRCm39) V1842A probably damaging Het
Abi3 A T 11: 95,732,934 (GRCm39) F13L probably benign Het
Adgre4 A G 17: 56,125,758 (GRCm39) K538R probably benign Het
Bcas3 C T 11: 85,342,581 (GRCm39) H191Y probably benign Het
Bicdl2 A G 17: 23,886,538 (GRCm39) T376A probably benign Het
Ceacam18 C A 7: 43,286,497 (GRCm39) N123K possibly damaging Het
Celsr3 C T 9: 108,709,224 (GRCm39) R1357C possibly damaging Het
Chek2 T C 5: 110,989,148 (GRCm39) probably benign Het
Chmp7 A G 14: 69,958,684 (GRCm39) V210A probably benign Het
Chrm2 A G 6: 36,500,290 (GRCm39) K49R probably damaging Het
Ciao2b T C 8: 105,368,282 (GRCm39) N14S probably damaging Het
Daam1 T A 12: 71,999,233 (GRCm39) L623* probably null Het
Ddx31 T A 2: 28,753,782 (GRCm39) C448S probably damaging Het
Dnah7a A G 1: 53,586,331 (GRCm39) S1507P probably damaging Het
Dnah8 C A 17: 30,965,928 (GRCm39) T2420K probably damaging Het
Dyrk3 C T 1: 131,057,432 (GRCm39) R247H probably damaging Het
Exoc4 A G 6: 33,242,934 (GRCm39) E49G probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxj3 A G 4: 119,476,596 (GRCm39) E258G probably damaging Het
Gata4 C T 14: 63,478,075 (GRCm39) A175T probably benign Het
Helz2 C T 2: 180,877,321 (GRCm39) E1106K probably damaging Het
Hip1 G T 5: 135,465,252 (GRCm39) S385R probably benign Het
Igsf9 C T 1: 172,312,078 (GRCm39) T8I probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Katnal2 A G 18: 77,105,190 (GRCm39) Y86H possibly damaging Het
Kcnh6 A T 11: 105,918,417 (GRCm39) I756F possibly damaging Het
Kdm5b C T 1: 134,535,432 (GRCm39) R570* probably null Het
Kif16b T A 2: 142,582,889 (GRCm39) R545S probably damaging Het
Kif21b T A 1: 136,100,030 (GRCm39) I1528N possibly damaging Het
Kmt2a T C 9: 44,730,571 (GRCm39) probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mknk2 T C 10: 80,507,597 (GRCm39) T60A probably benign Het
Ncoa6 T C 2: 155,248,907 (GRCm39) K1466E probably damaging Het
Ntsr2 A C 12: 16,704,083 (GRCm39) T109P probably damaging Het
Nup214 C A 2: 31,907,158 (GRCm39) S995Y unknown Het
Or2a5 A T 6: 42,873,454 (GRCm39) Q23L probably benign Het
Pclo T A 5: 14,762,750 (GRCm39) L456* probably null Het
Pde5a A G 3: 122,541,825 (GRCm39) D105G probably damaging Het
Pik3c3 C A 18: 30,456,597 (GRCm39) P709H probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rab3c T C 13: 110,198,497 (GRCm39) N179S possibly damaging Het
Setdb2 T A 14: 59,646,885 (GRCm39) R559S probably benign Het
Sf3b1 A G 1: 55,042,469 (GRCm39) Y474H probably benign Het
Slc6a6 G T 6: 91,712,155 (GRCm39) W228L probably benign Het
Slc8a2 T G 7: 15,891,228 (GRCm39) I750S probably damaging Het
Slco2b1 T A 7: 99,309,251 (GRCm39) I194L unknown Het
Smarcd1 C T 15: 99,601,128 (GRCm39) Q45* probably null Het
Srcap T G 7: 127,139,492 (GRCm39) L1271R probably damaging Het
Srsf12 A T 4: 33,209,330 (GRCm39) N9Y probably damaging Het
St7 T C 6: 17,819,317 (GRCm39) S74P probably damaging Het
Stxbp5l T A 16: 36,994,688 (GRCm39) E739V probably damaging Het
Sun3 T A 11: 8,981,496 (GRCm39) Q36L possibly damaging Het
Tbc1d32 T C 10: 56,047,033 (GRCm39) H545R possibly damaging Het
Tcp11 A T 17: 28,296,994 (GRCm39) C133S probably benign Het
Tm6sf2 T C 8: 70,526,939 (GRCm39) V36A possibly damaging Het
Tmem108 T C 9: 103,376,717 (GRCm39) Y244C probably damaging Het
Tra2a A T 6: 49,227,949 (GRCm39) probably benign Het
Ttll3 A G 6: 113,378,292 (GRCm39) K381E probably benign Het
Uaca T C 9: 60,778,430 (GRCm39) V937A probably benign Het
Umod C T 7: 119,071,577 (GRCm39) G388D probably damaging Het
Vmn2r90 G A 17: 17,924,412 (GRCm39) probably null Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp644 G A 5: 106,783,541 (GRCm39) T1002I probably damaging Het
Zfp738 A G 13: 67,819,131 (GRCm39) Y287H probably damaging Het
Zfyve16 T C 13: 92,644,771 (GRCm39) T1144A probably benign Het
Zgrf1 T C 3: 127,361,352 (GRCm39) probably null 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
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'- GACATCAGCTTCAACCGTCC -3'
(R):5'- GGAATCGGTCCTCTATCTTGAG -3'

Sequencing Primer
(F):5'- CATCTCTCCTCCTAACCAGGTACAG -3'
(R):5'- CTATCTTGAGCCATTTATTGAGGAC -3'
Posted On 2016-08-04