Incidental Mutation 'R9721:Trpm3'
ID 730821
Institutional Source Beutler Lab
Gene Symbol Trpm3
Ensembl Gene ENSMUSG00000052387
Gene Name transient receptor potential cation channel, subfamily M, member 3
Synonyms B930001P07Rik, 6330504P12Rik, MLSN2, melastatin 2, LTRPC3
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R9721 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 22139119-22989884 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22889398 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 531 (H531L)
Ref Sequence ENSEMBL: ENSMUSP00000084857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037901] [ENSMUST00000074770] [ENSMUST00000087576] [ENSMUST00000099564] [ENSMUST00000099569]
AlphaFold J9S314
Predicted Effect probably benign
Transcript: ENSMUST00000037901
AA Change: H529L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042184
Gene: ENSMUSG00000052387
AA Change: H529L

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: H531L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074328
Gene: ENSMUSG00000052387
AA Change: H531L

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: H531L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000084857
Gene: ENSMUSG00000052387
AA Change: H531L

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: H383L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097160
Gene: ENSMUSG00000052387
AA Change: H383L

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: ENSMUST00000099569
AA Change: H531L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097164
Gene: ENSMUSG00000052387
AA Change: H531L

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: 99.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,419,283 (GRCm38) Y120N probably benign Het
2410089E03Rik A G 15: 8,225,409 (GRCm38) T27A unknown Het
4931428F04Rik A T 8: 105,283,188 (GRCm38) D376E probably benign Het
AI314180 A T 4: 58,850,938 (GRCm38) S412T probably benign Het
Alox8 T A 11: 69,197,085 (GRCm38) H131L probably benign Het
Atp13a1 A G 8: 69,799,437 (GRCm38) E588G probably damaging Het
AU040320 G A 4: 126,839,648 (GRCm38) V654M probably damaging Het
Bicra A G 7: 15,979,176 (GRCm38) L982P probably damaging Het
Cdh11 A T 8: 102,679,625 (GRCm38) V72E probably damaging Het
Cfap65 T C 1: 74,919,342 (GRCm38) T869A probably benign Het
Ddx19a A G 8: 110,978,475 (GRCm38) F338S probably damaging Het
Dhrs7c T A 11: 67,815,078 (GRCm38) V219E probably damaging Het
Dhx33 A G 11: 71,001,598 (GRCm38) V115A probably damaging Het
Dst A G 1: 34,192,785 (GRCm38) D3153G probably benign Het
Eif5b T C 1: 38,037,659 (GRCm38) probably null Het
Ep300 A G 15: 81,608,315 (GRCm38) N284S unknown Het
Fam83a A G 15: 57,986,117 (GRCm38) N19S probably benign Het
Fgd5 A T 6: 91,988,297 (GRCm38) T504S probably benign Het
Flt4 G A 11: 49,644,433 (GRCm38) probably null Het
Ggta1 G T 2: 35,413,406 (GRCm38) D91E probably benign Het
Gls A G 1: 52,212,268 (GRCm38) V310A probably damaging Het
Gm13178 A T 4: 144,703,372 (GRCm38) V349D possibly damaging Het
Gm5414 A T 15: 101,628,147 (GRCm38) C14* probably null Het
Gm906 T C 13: 50,246,652 (GRCm38) Y546C possibly damaging Het
Gm9887 C G 12: 69,371,855 (GRCm38) A202P unknown Het
Ifi214 T C 1: 173,527,913 (GRCm38) T110A possibly damaging Het
Il4i1 A G 7: 44,839,689 (GRCm38) R293G probably benign Het
Itpr1 A T 6: 108,406,102 (GRCm38) T1464S probably damaging Het
Kif18a T C 2: 109,293,055 (GRCm38) S225P probably damaging Het
Kif21a A T 15: 90,971,127 (GRCm38) I678N probably damaging Het
Klf11 T A 12: 24,660,241 (GRCm38) D429E probably damaging Het
Kntc1 A G 5: 123,801,885 (GRCm38) T1581A probably benign Het
Lama2 T C 10: 27,467,342 (GRCm38) N45D possibly damaging Het
Lrrk1 T C 7: 66,274,875 (GRCm38) I1319V probably damaging Het
Ltbr G A 6: 125,307,385 (GRCm38) R365W probably damaging Het
Malrd1 C T 2: 15,696,827 (GRCm38) T751I unknown Het
Mgat5b T C 11: 116,966,769 (GRCm38) L363P probably damaging Het
Mphosph9 A T 5: 124,298,675 (GRCm38) S535R possibly damaging Het
Nckap5 C T 1: 126,027,280 (GRCm38) D512N probably damaging Het
Ngef T A 1: 87,479,135 (GRCm38) D637V probably damaging Het
Nup93 T C 8: 94,303,685 (GRCm38) Y391H probably damaging Het
Olfr1215 T C 2: 89,001,716 (GRCm38) T191A Het
Olfr1406 C A 1: 173,184,348 (GRCm38) V29F probably benign Het
Olfr1469 A T 19: 13,410,970 (GRCm38) T134S probably benign Het
Pcdhb4 C A 18: 37,309,852 (GRCm38) D738E possibly damaging Het
Pfpl G C 19: 12,428,933 (GRCm38) E183Q probably damaging Het
Phactr3 G A 2: 178,256,250 (GRCm38) E86K probably damaging Het
Psd C T 19: 46,323,189 (GRCm38) D351N probably benign Het
Pzp A G 6: 128,495,191 (GRCm38) probably null Het
Rerg T A 6: 137,056,417 (GRCm38) K106* probably null Het
Samd9l T C 6: 3,375,854 (GRCm38) E469G possibly damaging Het
Smok2b C A 17: 13,234,978 (GRCm38) Y8* probably null Het
Spn A G 7: 127,136,265 (GRCm38) S357P probably benign Het
Tek T G 4: 94,804,302 (GRCm38) W216G possibly damaging Het
Trpm6 A G 19: 18,829,972 (GRCm38) M1027V probably benign Het
Tsc2 G A 17: 24,599,642 (GRCm38) R1408* probably null Het
Unc13b A G 4: 43,101,869 (GRCm38) N155D probably benign Het
Vmn1r52 G A 6: 90,179,026 (GRCm38) C104Y probably damaging Het
Xylt1 A T 7: 117,549,020 (GRCm38) E273V probably damaging Het
Zc3h4 C A 7: 16,434,845 (GRCm38) Q1035K unknown Het
Zcchc11 T A 4: 108,555,581 (GRCm38) M1493K probably benign Het
Zfp14 A T 7: 30,039,184 (GRCm38) S125R probably benign Het
Other mutations in Trpm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Trpm3 APN 19 22,987,659 (GRCm38) missense probably benign 0.00
IGL00773:Trpm3 APN 19 22,900,159 (GRCm38) missense possibly damaging 0.92
IGL00852:Trpm3 APN 19 22,987,071 (GRCm38) missense possibly damaging 0.93
IGL01597:Trpm3 APN 19 22,715,246 (GRCm38) missense probably damaging 1.00
IGL01607:Trpm3 APN 19 22,987,127 (GRCm38) missense probably benign 0.01
IGL01818:Trpm3 APN 19 22,914,474 (GRCm38) missense probably damaging 1.00
IGL01890:Trpm3 APN 19 22,711,719 (GRCm38) missense probably damaging 0.98
IGL02016:Trpm3 APN 19 22,902,069 (GRCm38) nonsense probably null
IGL02324:Trpm3 APN 19 22,698,779 (GRCm38) missense probably benign 0.25
IGL02947:Trpm3 APN 19 22,901,119 (GRCm38) missense probably damaging 0.99
IGL03037:Trpm3 APN 19 22,889,412 (GRCm38) missense possibly damaging 0.85
IGL03128:Trpm3 APN 19 22,914,465 (GRCm38) missense probably damaging 1.00
IGL03335:Trpm3 APN 19 22,926,071 (GRCm38) critical splice donor site probably null
IGL03354:Trpm3 APN 19 22,856,718 (GRCm38) missense probably damaging 1.00
bit UTSW 19 22,987,869 (GRCm38) missense probably benign 0.00
G1patch:Trpm3 UTSW 19 22,926,028 (GRCm38) missense probably damaging 1.00
P0041:Trpm3 UTSW 19 22,897,686 (GRCm38) missense probably benign 0.01
R0001:Trpm3 UTSW 19 22,715,331 (GRCm38) missense possibly damaging 0.70
R0007:Trpm3 UTSW 19 22,987,529 (GRCm38) missense probably benign 0.00
R0007:Trpm3 UTSW 19 22,987,529 (GRCm38) missense probably benign 0.00
R0009:Trpm3 UTSW 19 22,914,446 (GRCm38) missense probably damaging 1.00
R0009:Trpm3 UTSW 19 22,914,446 (GRCm38) missense probably damaging 1.00
R0142:Trpm3 UTSW 19 22,987,916 (GRCm38) missense probably damaging 0.98
R0194:Trpm3 UTSW 19 22,715,356 (GRCm38) splice site probably null
R0268:Trpm3 UTSW 19 22,897,521 (GRCm38) critical splice donor site probably null
R0299:Trpm3 UTSW 19 22,986,873 (GRCm38) missense possibly damaging 0.62
R0449:Trpm3 UTSW 19 22,988,054 (GRCm38) missense probably benign
R0481:Trpm3 UTSW 19 22,901,071 (GRCm38) missense possibly damaging 0.51
R0496:Trpm3 UTSW 19 22,698,778 (GRCm38) missense probably benign 0.00
R0499:Trpm3 UTSW 19 22,986,873 (GRCm38) missense possibly damaging 0.62
R0550:Trpm3 UTSW 19 22,987,812 (GRCm38) missense probably damaging 0.97
R0729:Trpm3 UTSW 19 22,987,789 (GRCm38) missense probably benign
R0883:Trpm3 UTSW 19 22,978,654 (GRCm38) missense probably damaging 1.00
R0926:Trpm3 UTSW 19 22,988,043 (GRCm38) missense probably benign 0.02
R1185:Trpm3 UTSW 19 22,914,417 (GRCm38) splice site probably benign
R1185:Trpm3 UTSW 19 22,914,417 (GRCm38) splice site probably benign
R1513:Trpm3 UTSW 19 22,986,872 (GRCm38) missense possibly damaging 0.96
R1521:Trpm3 UTSW 19 22,901,221 (GRCm38) missense probably damaging 1.00
R1522:Trpm3 UTSW 19 22,978,334 (GRCm38) missense probably benign 0.39
R1569:Trpm3 UTSW 19 22,889,445 (GRCm38) critical splice donor site probably null
R1598:Trpm3 UTSW 19 22,733,024 (GRCm38) missense possibly damaging 0.47
R1600:Trpm3 UTSW 19 22,139,155 (GRCm38) missense probably benign 0.00
R1616:Trpm3 UTSW 19 22,982,712 (GRCm38) missense probably damaging 1.00
R1619:Trpm3 UTSW 19 22,711,907 (GRCm38) missense probably damaging 0.99
R1923:Trpm3 UTSW 19 22,885,412 (GRCm38) missense probably damaging 1.00
R1985:Trpm3 UTSW 19 22,926,082 (GRCm38) missense possibly damaging 0.56
R2002:Trpm3 UTSW 19 22,982,583 (GRCm38) missense probably damaging 1.00
R2249:Trpm3 UTSW 19 22,733,034 (GRCm38) missense probably benign 0.15
R3719:Trpm3 UTSW 19 22,986,990 (GRCm38) missense possibly damaging 0.95
R3766:Trpm3 UTSW 19 22,448,377 (GRCm38) missense probably benign
R3774:Trpm3 UTSW 19 22,987,975 (GRCm38) missense probably benign 0.03
R3774:Trpm3 UTSW 19 22,978,602 (GRCm38) missense possibly damaging 0.66
R3776:Trpm3 UTSW 19 22,978,602 (GRCm38) missense possibly damaging 0.66
R3820:Trpm3 UTSW 19 22,987,449 (GRCm38) missense probably benign 0.00
R3899:Trpm3 UTSW 19 22,901,160 (GRCm38) missense possibly damaging 0.90
R4204:Trpm3 UTSW 19 22,987,564 (GRCm38) missense probably benign 0.00
R4238:Trpm3 UTSW 19 22,978,638 (GRCm38) missense probably damaging 1.00
R4301:Trpm3 UTSW 19 22,987,292 (GRCm38) missense probably benign 0.23
R4344:Trpm3 UTSW 19 22,897,697 (GRCm38) missense probably damaging 0.99
R4345:Trpm3 UTSW 19 22,897,697 (GRCm38) missense probably damaging 0.99
R4365:Trpm3 UTSW 19 22,978,330 (GRCm38) missense probably benign 0.00
R4510:Trpm3 UTSW 19 22,988,017 (GRCm38) missense probably benign 0.00
R4511:Trpm3 UTSW 19 22,988,017 (GRCm38) missense probably benign 0.00
R4565:Trpm3 UTSW 19 22,987,869 (GRCm38) missense probably benign 0.00
R4573:Trpm3 UTSW 19 22,902,142 (GRCm38) missense probably damaging 1.00
R4606:Trpm3 UTSW 19 22,978,624 (GRCm38) missense probably benign 0.26
R4677:Trpm3 UTSW 19 22,987,388 (GRCm38) missense possibly damaging 0.95
R4684:Trpm3 UTSW 19 22,987,781 (GRCm38) missense probably benign
R4713:Trpm3 UTSW 19 22,889,435 (GRCm38) missense possibly damaging 0.83
R4745:Trpm3 UTSW 19 22,715,295 (GRCm38) missense possibly damaging 0.67
R5015:Trpm3 UTSW 19 22,711,712 (GRCm38) missense probably damaging 1.00
R5030:Trpm3 UTSW 19 22,698,766 (GRCm38) missense probably benign 0.01
R5074:Trpm3 UTSW 19 22,885,349 (GRCm38) missense possibly damaging 0.65
R5089:Trpm3 UTSW 19 22,766,756 (GRCm38) missense probably damaging 0.97
R5100:Trpm3 UTSW 19 22,918,766 (GRCm38) missense probably damaging 0.99
R5108:Trpm3 UTSW 19 22,904,714 (GRCm38) missense probably benign 0.06
R5204:Trpm3 UTSW 19 22,448,341 (GRCm38) nonsense probably null
R5213:Trpm3 UTSW 19 22,697,454 (GRCm38) nonsense probably null
R5358:Trpm3 UTSW 19 22,925,968 (GRCm38) missense probably damaging 1.00
R5374:Trpm3 UTSW 19 22,926,184 (GRCm38) nonsense probably null
R5382:Trpm3 UTSW 19 22,885,341 (GRCm38) splice site probably null
R5509:Trpm3 UTSW 19 22,987,258 (GRCm38) missense probably damaging 0.99
R5558:Trpm3 UTSW 19 22,978,573 (GRCm38) missense probably damaging 1.00
R6154:Trpm3 UTSW 19 22,987,814 (GRCm38) missense probably damaging 1.00
R6250:Trpm3 UTSW 19 22,910,054 (GRCm38) missense probably benign 0.01
R6433:Trpm3 UTSW 19 22,901,305 (GRCm38) missense probably damaging 1.00
R6542:Trpm3 UTSW 19 22,926,113 (GRCm38) missense probably benign 0.04
R6630:Trpm3 UTSW 19 22,987,983 (GRCm38) missense probably benign 0.00
R6640:Trpm3 UTSW 19 22,978,582 (GRCm38) missense probably damaging 1.00
R6725:Trpm3 UTSW 19 22,926,028 (GRCm38) missense probably damaging 1.00
R7275:Trpm3 UTSW 19 22,978,684 (GRCm38) missense possibly damaging 0.71
R7371:Trpm3 UTSW 19 22,902,193 (GRCm38) missense probably benign 0.27
R7467:Trpm3 UTSW 19 22,978,334 (GRCm38) missense possibly damaging 0.82
R7488:Trpm3 UTSW 19 22,978,573 (GRCm38) missense probably damaging 1.00
R7495:Trpm3 UTSW 19 22,897,796 (GRCm38) missense probably benign 0.28
R7600:Trpm3 UTSW 19 22,926,094 (GRCm38) missense possibly damaging 0.68
R7710:Trpm3 UTSW 19 22,918,790 (GRCm38) missense probably damaging 0.97
R7877:Trpm3 UTSW 19 22,904,784 (GRCm38) missense probably benign 0.25
R8184:Trpm3 UTSW 19 22,918,696 (GRCm38) missense possibly damaging 0.46
R8234:Trpm3 UTSW 19 22,715,276 (GRCm38) missense possibly damaging 0.47
R8236:Trpm3 UTSW 19 22,987,408 (GRCm38) missense probably benign 0.00
R8443:Trpm3 UTSW 19 22,698,862 (GRCm38) missense possibly damaging 0.90
R8470:Trpm3 UTSW 19 22,910,137 (GRCm38) missense possibly damaging 0.91
R8784:Trpm3 UTSW 19 22,918,676 (GRCm38) missense probably benign 0.07
R8816:Trpm3 UTSW 19 22,988,216 (GRCm38) missense probably damaging 0.97
R8818:Trpm3 UTSW 19 22,978,588 (GRCm38) missense possibly damaging 0.81
R8875:Trpm3 UTSW 19 22,910,129 (GRCm38) missense probably damaging 1.00
R8931:Trpm3 UTSW 19 22,766,670 (GRCm38) missense probably damaging 1.00
R8969:Trpm3 UTSW 19 22,925,944 (GRCm38) missense probably damaging 0.98
R8987:Trpm3 UTSW 19 22,918,760 (GRCm38) missense probably damaging 1.00
R9300:Trpm3 UTSW 19 22,978,381 (GRCm38) missense possibly damaging 0.49
R9327:Trpm3 UTSW 19 22,918,640 (GRCm38) missense possibly damaging 0.56
R9354:Trpm3 UTSW 19 22,448,332 (GRCm38) missense probably benign
R9514:Trpm3 UTSW 19 22,982,676 (GRCm38) missense probably benign 0.42
R9545:Trpm3 UTSW 19 22,901,094 (GRCm38) missense probably benign 0.24
R9712:Trpm3 UTSW 19 22,715,352 (GRCm38) missense possibly damaging 0.55
R9750:Trpm3 UTSW 19 22,926,131 (GRCm38) missense probably benign 0.00
Z1176:Trpm3 UTSW 19 22,987,490 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- TAGACCTTCAGACACATCTTCTTG -3'
(R):5'- GCATAACATCACTCTGCGGTG -3'

Sequencing Primer
(F):5'- GATCCAAAGTTCAATCAGTCCTGG -3'
(R):5'- ATCACTCTGCGGTGGAGGG -3'
Posted On 2022-10-06