Incidental Mutation 'R7571:Trpm2'
ID 585851
Institutional Source Beutler Lab
Gene Symbol Trpm2
Ensembl Gene ENSMUSG00000009292
Gene Name transient receptor potential cation channel, subfamily M, member 2
Synonyms Trrp7, TRPC7, LTRPC2, 9830168K16Rik
MMRRC Submission 045711-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R7571 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 77743556-77805746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 77773784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 544 (R544S)
Ref Sequence ENSEMBL: ENSMUSP00000101040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105401]
AlphaFold Q91YD4
Predicted Effect probably benign
Transcript: ENSMUST00000105401
AA Change: R544S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: R544S

DomainStartEndE-ValueType
low complexity region 654 672 N/A INTRINSIC
transmembrane domain 750 772 N/A INTRINSIC
Pfam:Ion_trans 794 1057 3.7e-21 PFAM
low complexity region 1078 1090 N/A INTRINSIC
low complexity region 1106 1115 N/A INTRINSIC
low complexity region 1123 1146 N/A INTRINSIC
PDB:1QVJ|A 1236 1506 3e-37 PDB
SCOP:d1k2ea_ 1369 1502 9e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,119,211 (GRCm39) N985I probably benign Het
Abi3bp T A 16: 56,451,345 (GRCm39) probably null Het
Acad12 A T 5: 121,745,257 (GRCm39) Y309* probably null Het
Acadsb G T 7: 131,045,283 (GRCm39) R405L probably damaging Het
Acan G A 7: 78,736,015 (GRCm39) V154M probably damaging Het
Adam22 G A 5: 8,132,160 (GRCm39) R894* probably null Het
Ahnak A T 19: 8,978,150 (GRCm39) K90* probably null Het
Ak4 T C 4: 101,317,739 (GRCm39) I103T probably benign Het
Ap4e1 C T 2: 126,861,256 (GRCm39) L132F probably damaging Het
Apol7b C T 15: 77,307,677 (GRCm39) V273I probably benign Het
Arhgef37 T A 18: 61,637,403 (GRCm39) I420F probably damaging Het
Atg13 C T 2: 91,510,687 (GRCm39) probably null Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Cabin1 A T 10: 75,482,500 (GRCm39) S2148T probably damaging Het
Cacna1i T C 15: 80,259,537 (GRCm39) V1269A probably damaging Het
Cdipt T C 7: 126,578,794 (GRCm39) I195T probably benign Het
Ces2b A T 8: 105,561,641 (GRCm39) H245L probably damaging Het
Cimip2c A T 5: 30,639,502 (GRCm39) E143V possibly damaging Het
Clstn1 T G 4: 149,730,744 (GRCm39) M825R probably benign Het
Cntn3 G A 6: 102,255,364 (GRCm39) T178I probably damaging Het
Col7a1 A G 9: 108,811,775 (GRCm39) M2789V probably null Het
Col9a2 A T 4: 120,896,981 (GRCm39) I24F unknown Het
Cpne2 T C 8: 95,278,408 (GRCm39) M134T probably benign Het
Cpt1b A G 15: 89,305,546 (GRCm39) probably null Het
Crocc T C 4: 140,773,360 (GRCm39) probably null Het
Cts8 T C 13: 61,395,981 (GRCm39) Y330C probably damaging Het
Cwc22 T C 2: 77,747,411 (GRCm39) D434G probably benign Het
Cyp3a13 T C 5: 137,897,125 (GRCm39) I396M possibly damaging Het
Ddr2 A T 1: 169,829,420 (GRCm39) I278N probably benign Het
Dnaaf5 A G 5: 139,155,963 (GRCm39) E548G possibly damaging Het
Dync2h1 A G 9: 7,002,623 (GRCm39) L3808P probably damaging Het
Faf2 T A 13: 54,798,027 (GRCm39) W209R probably damaging Het
Fbln2 A T 6: 91,245,557 (GRCm39) E992D probably damaging Het
Fdxacb1 T A 9: 50,683,093 (GRCm39) V352D probably damaging Het
Flg2 G T 3: 93,127,303 (GRCm39) G2072* probably null Het
Flii A T 11: 60,611,962 (GRCm39) L347Q probably damaging Het
Fndc3a A T 14: 72,827,336 (GRCm39) H116Q probably damaging Het
Fnta A T 8: 26,505,493 (GRCm39) M39K probably benign Het
Gabra4 A G 5: 71,729,335 (GRCm39) S482P probably benign Het
Gapdhs G A 7: 30,437,383 (GRCm39) P61S unknown Het
Gm10153 A T 7: 141,743,401 (GRCm39) C242* probably null Het
Gp1ba A G 11: 70,530,920 (GRCm39) I229V unknown Het
Grap2 T A 15: 80,527,905 (GRCm39) L117Q probably damaging Het
Grik5 A G 7: 24,713,310 (GRCm39) I766T possibly damaging Het
Hrh3 A T 2: 179,743,079 (GRCm39) I183N probably damaging Het
Htr5a C A 5: 28,047,893 (GRCm39) Y149* probably null Het
Ibtk T C 9: 85,604,353 (GRCm39) I527V probably benign Het
Il33 T A 19: 29,934,341 (GRCm39) S184R probably damaging Het
Kansl3 T A 1: 36,404,668 (GRCm39) Q94L possibly damaging Het
Katnip C T 7: 125,307,193 (GRCm39) probably benign Het
Kcnh6 A G 11: 105,908,242 (GRCm39) D286G probably benign Het
Kmt2e T A 5: 23,683,585 (GRCm39) M281K probably damaging Het
Lrp2 T A 2: 69,346,747 (GRCm39) H833L probably damaging Het
Meis1 A T 11: 18,891,702 (GRCm39) V282E probably damaging Het
Mfsd8 T G 3: 40,785,097 (GRCm39) D240A probably damaging Het
Muc5b A G 7: 141,400,986 (GRCm39) T534A unknown Het
Myo18b G A 5: 112,978,194 (GRCm39) L1243F probably damaging Het
Nefl A G 14: 68,322,123 (GRCm39) I238V probably benign Het
Nexn T A 3: 151,959,284 (GRCm39) I62F possibly damaging Het
Niban1 T C 1: 151,594,048 (GRCm39) V911A probably benign Het
Notch4 T C 17: 34,802,548 (GRCm39) L1323P probably damaging Het
Or51h1 T C 7: 102,308,258 (GRCm39) S77P probably damaging Het
Or5p68 A T 7: 107,945,689 (GRCm39) F166L probably benign Het
Or8b1 T C 9: 38,399,952 (GRCm39) V209A probably benign Het
Patj C A 4: 98,457,217 (GRCm39) H1244N probably damaging Het
Peg10 T A 6: 4,756,082 (GRCm39) D219E unknown Het
Pi4kb G T 3: 94,906,425 (GRCm39) probably null Het
Piezo1 A G 8: 123,225,157 (GRCm39) F614S Het
Pisd T A 5: 32,894,681 (GRCm39) N372Y probably damaging Het
Piwil4 T C 9: 14,645,893 (GRCm39) D178G probably benign Het
Plekho1 G T 3: 95,896,566 (GRCm39) P301Q probably damaging Het
Pop1 T A 15: 34,529,093 (GRCm39) W738R probably null Het
Ppp4r1 C T 17: 66,117,611 (GRCm39) P125L possibly damaging Het
Pramel48 A T 5: 95,630,819 (GRCm39) N232I probably damaging Het
Prdm9 T A 17: 15,783,526 (GRCm39) N13I probably damaging Het
Psd4 T G 2: 24,297,023 (GRCm39) V932G probably damaging Het
Ptger3 T C 3: 157,347,412 (GRCm39) S355P probably benign Het
Ptprb T C 10: 116,175,335 (GRCm39) V823A probably damaging Het
Ptprj C T 2: 90,285,530 (GRCm39) V841I probably benign Het
Ranbp3 T C 17: 57,014,923 (GRCm39) S281P probably benign Het
Rasal3 T A 17: 32,614,835 (GRCm39) M541L possibly damaging Het
Rassf1 A G 9: 107,428,982 (GRCm39) T63A possibly damaging Het
Rcor3 C A 1: 191,822,173 (GRCm39) G8V probably damaging Het
Rgs4 G A 1: 169,571,927 (GRCm39) T124I probably damaging Het
Rspo2 T A 15: 43,033,372 (GRCm39) probably benign Het
Scgn T C 13: 24,137,897 (GRCm39) D258G probably damaging Het
Shkbp1 A G 7: 27,046,556 (GRCm39) S403P possibly damaging Het
Slc25a13 A G 6: 6,052,785 (GRCm39) L525P probably damaging Het
Snd1 G T 6: 28,526,202 (GRCm39) K193N possibly damaging Het
Sntg2 C T 12: 30,225,201 (GRCm39) A516T probably damaging Het
Stard13 A G 5: 150,982,967 (GRCm39) I699T probably damaging Het
Svil T A 18: 5,114,636 (GRCm39) V1984D probably damaging Het
Swt1 A G 1: 151,270,470 (GRCm39) S582P probably benign Het
Sypl2 A G 3: 108,121,854 (GRCm39) *265Q probably null Het
Taar8a T A 10: 23,953,306 (GRCm39) Y303* probably null Het
Tasor2 T C 13: 3,625,292 (GRCm39) T1553A probably benign Het
Tlr2 T A 3: 83,743,849 (GRCm39) I745F probably damaging Het
Tnrc6b A G 15: 80,813,594 (GRCm39) T1784A probably benign Het
Tpo C A 12: 30,169,431 (GRCm39) M101I probably benign Het
Ttc14 A G 3: 33,863,400 (GRCm39) R603G unknown Het
Tubgcp6 A C 15: 88,984,925 (GRCm39) V1694G probably damaging Het
Uba6 C A 5: 86,294,970 (GRCm39) K356N probably benign Het
Usp16 T C 16: 87,261,723 (GRCm39) V113A possibly damaging Het
Vcam1 G A 3: 115,908,032 (GRCm39) Q677* probably null Het
Vmn1r238 T A 18: 3,122,721 (GRCm39) E231V probably damaging Het
Vmn1r70 T C 7: 10,367,871 (GRCm39) F120L probably benign Het
Vmn2r116 T A 17: 23,603,830 (GRCm39) probably null Het
Vmn2r5 A T 3: 64,411,825 (GRCm39) C248S probably damaging Het
Vmn2r87 A T 10: 130,314,940 (GRCm39) D215E probably damaging Het
Xkr4 T G 1: 3,740,911 (GRCm39) I221L probably benign Het
Zfp366 T C 13: 99,382,895 (GRCm39) I686T probably benign Het
Zfp398 T A 6: 47,843,666 (GRCm39) C573S probably damaging Het
Other mutations in Trpm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Trpm2 APN 10 77,778,749 (GRCm39) splice site probably null
IGL00773:Trpm2 APN 10 77,785,048 (GRCm39) nonsense probably null
IGL00962:Trpm2 APN 10 77,779,750 (GRCm39) splice site probably benign
IGL01093:Trpm2 APN 10 77,768,114 (GRCm39) missense probably benign 0.04
IGL01124:Trpm2 APN 10 77,781,659 (GRCm39) splice site probably benign
IGL01301:Trpm2 APN 10 77,759,818 (GRCm39) missense probably damaging 1.00
IGL02094:Trpm2 APN 10 77,778,830 (GRCm39) nonsense probably null
IGL02175:Trpm2 APN 10 77,773,741 (GRCm39) missense probably benign 0.07
IGL02653:Trpm2 APN 10 77,748,503 (GRCm39) missense probably benign 0.19
IGL02667:Trpm2 APN 10 77,771,776 (GRCm39) missense probably damaging 1.00
IGL02668:Trpm2 APN 10 77,771,776 (GRCm39) missense probably damaging 1.00
IGL02828:Trpm2 APN 10 77,754,820 (GRCm39) missense probably benign 0.16
IGL02951:Trpm2 APN 10 77,765,112 (GRCm39) missense possibly damaging 0.95
IGL03188:Trpm2 APN 10 77,754,743 (GRCm39) missense probably benign 0.18
IGL03242:Trpm2 APN 10 77,753,568 (GRCm39) missense probably benign
IGL03405:Trpm2 APN 10 77,801,906 (GRCm39) splice site probably benign
Fugit UTSW 10 77,774,202 (GRCm39) missense probably damaging 1.00
scusate UTSW 10 77,802,828 (GRCm39) nonsense probably null
temporal UTSW 10 77,761,516 (GRCm39) missense probably benign 0.30
ANU18:Trpm2 UTSW 10 77,759,818 (GRCm39) missense probably damaging 1.00
R0147:Trpm2 UTSW 10 77,761,659 (GRCm39) missense probably damaging 1.00
R0148:Trpm2 UTSW 10 77,761,659 (GRCm39) missense probably damaging 1.00
R0302:Trpm2 UTSW 10 77,779,824 (GRCm39) splice site probably benign
R0332:Trpm2 UTSW 10 77,783,822 (GRCm39) missense probably damaging 1.00
R0586:Trpm2 UTSW 10 77,759,350 (GRCm39) missense probably damaging 0.99
R0847:Trpm2 UTSW 10 77,765,122 (GRCm39) missense possibly damaging 0.94
R1183:Trpm2 UTSW 10 77,759,398 (GRCm39) missense probably damaging 1.00
R1472:Trpm2 UTSW 10 77,801,841 (GRCm39) missense probably damaging 1.00
R1510:Trpm2 UTSW 10 77,802,828 (GRCm39) nonsense probably null
R1518:Trpm2 UTSW 10 77,778,839 (GRCm39) missense possibly damaging 0.67
R1564:Trpm2 UTSW 10 77,778,833 (GRCm39) missense probably benign 0.14
R1593:Trpm2 UTSW 10 77,778,910 (GRCm39) missense possibly damaging 0.71
R1617:Trpm2 UTSW 10 77,771,709 (GRCm39) splice site probably null
R1673:Trpm2 UTSW 10 77,778,778 (GRCm39) missense probably benign
R1912:Trpm2 UTSW 10 77,781,710 (GRCm39) missense probably benign 0.10
R1932:Trpm2 UTSW 10 77,776,992 (GRCm39) missense probably damaging 1.00
R1993:Trpm2 UTSW 10 77,783,823 (GRCm39) missense probably damaging 1.00
R2013:Trpm2 UTSW 10 77,761,600 (GRCm39) missense probably damaging 1.00
R2151:Trpm2 UTSW 10 77,768,013 (GRCm39) missense probably benign 0.01
R2201:Trpm2 UTSW 10 77,756,305 (GRCm39) nonsense probably null
R2217:Trpm2 UTSW 10 77,777,016 (GRCm39) missense probably damaging 1.00
R2312:Trpm2 UTSW 10 77,754,798 (GRCm39) missense probably benign 0.04
R2339:Trpm2 UTSW 10 77,750,640 (GRCm39) splice site probably benign
R2395:Trpm2 UTSW 10 77,783,714 (GRCm39) missense possibly damaging 0.69
R2396:Trpm2 UTSW 10 77,766,471 (GRCm39) missense probably benign 0.14
R2405:Trpm2 UTSW 10 77,770,558 (GRCm39) missense probably damaging 1.00
R2567:Trpm2 UTSW 10 77,777,008 (GRCm39) missense probably damaging 0.99
R3001:Trpm2 UTSW 10 77,766,368 (GRCm39) critical splice donor site probably null
R3002:Trpm2 UTSW 10 77,766,368 (GRCm39) critical splice donor site probably null
R3125:Trpm2 UTSW 10 77,747,208 (GRCm39) missense probably damaging 1.00
R3500:Trpm2 UTSW 10 77,768,136 (GRCm39) missense probably benign 0.03
R3777:Trpm2 UTSW 10 77,771,824 (GRCm39) missense probably benign 0.13
R3778:Trpm2 UTSW 10 77,771,824 (GRCm39) missense probably benign 0.13
R4272:Trpm2 UTSW 10 77,769,476 (GRCm39) missense probably damaging 1.00
R4384:Trpm2 UTSW 10 77,753,559 (GRCm39) missense probably benign 0.44
R4395:Trpm2 UTSW 10 77,765,053 (GRCm39) missense probably benign 0.01
R4423:Trpm2 UTSW 10 77,770,902 (GRCm39) missense probably benign 0.00
R4452:Trpm2 UTSW 10 77,759,427 (GRCm39) missense probably damaging 1.00
R4612:Trpm2 UTSW 10 77,781,750 (GRCm39) missense probably damaging 0.99
R4662:Trpm2 UTSW 10 77,773,972 (GRCm39) missense probably benign 0.05
R4825:Trpm2 UTSW 10 77,777,007 (GRCm39) missense probably damaging 0.98
R4906:Trpm2 UTSW 10 77,768,023 (GRCm39) nonsense probably null
R4943:Trpm2 UTSW 10 77,801,841 (GRCm39) missense probably damaging 1.00
R4948:Trpm2 UTSW 10 77,753,626 (GRCm39) missense probably benign 0.34
R5046:Trpm2 UTSW 10 77,801,852 (GRCm39) missense probably damaging 1.00
R5320:Trpm2 UTSW 10 77,759,355 (GRCm39) missense probably benign 0.06
R5523:Trpm2 UTSW 10 77,771,795 (GRCm39) missense probably benign 0.04
R5562:Trpm2 UTSW 10 77,795,773 (GRCm39) missense possibly damaging 0.71
R5623:Trpm2 UTSW 10 77,767,973 (GRCm39) missense probably damaging 0.96
R5628:Trpm2 UTSW 10 77,748,470 (GRCm39) missense probably benign 0.00
R5633:Trpm2 UTSW 10 77,774,187 (GRCm39) missense possibly damaging 0.71
R5817:Trpm2 UTSW 10 77,801,814 (GRCm39) missense probably damaging 1.00
R5989:Trpm2 UTSW 10 77,795,734 (GRCm39) missense probably damaging 1.00
R6018:Trpm2 UTSW 10 77,753,547 (GRCm39) missense probably benign 0.00
R6075:Trpm2 UTSW 10 77,770,877 (GRCm39) critical splice donor site probably null
R6092:Trpm2 UTSW 10 77,761,516 (GRCm39) missense probably benign 0.30
R6309:Trpm2 UTSW 10 77,774,202 (GRCm39) missense probably damaging 1.00
R6327:Trpm2 UTSW 10 77,768,061 (GRCm39) missense probably damaging 1.00
R6568:Trpm2 UTSW 10 77,773,660 (GRCm39) missense probably benign 0.01
R6579:Trpm2 UTSW 10 77,773,660 (GRCm39) missense probably benign 0.01
R6640:Trpm2 UTSW 10 77,773,660 (GRCm39) missense probably benign 0.01
R6642:Trpm2 UTSW 10 77,773,660 (GRCm39) missense probably benign 0.01
R6798:Trpm2 UTSW 10 77,750,574 (GRCm39) missense probably damaging 0.99
R6999:Trpm2 UTSW 10 77,771,725 (GRCm39) missense probably damaging 1.00
R7034:Trpm2 UTSW 10 77,748,426 (GRCm39) missense probably benign
R7036:Trpm2 UTSW 10 77,748,426 (GRCm39) missense probably benign
R7113:Trpm2 UTSW 10 77,783,765 (GRCm39) missense probably damaging 0.96
R7171:Trpm2 UTSW 10 77,759,848 (GRCm39) missense probably damaging 1.00
R7240:Trpm2 UTSW 10 77,771,710 (GRCm39) critical splice donor site probably null
R7274:Trpm2 UTSW 10 77,759,389 (GRCm39) missense probably benign 0.00
R7379:Trpm2 UTSW 10 77,750,568 (GRCm39) missense probably benign
R7527:Trpm2 UTSW 10 77,801,894 (GRCm39) missense probably benign 0.01
R7600:Trpm2 UTSW 10 77,773,885 (GRCm39) missense probably benign 0.02
R7727:Trpm2 UTSW 10 77,761,623 (GRCm39) missense probably benign 0.34
R7771:Trpm2 UTSW 10 77,768,013 (GRCm39) missense probably benign 0.01
R7844:Trpm2 UTSW 10 77,759,340 (GRCm39) missense probably benign 0.00
R8158:Trpm2 UTSW 10 77,783,731 (GRCm39) missense probably damaging 0.99
R8225:Trpm2 UTSW 10 77,783,807 (GRCm39) missense probably damaging 1.00
R8226:Trpm2 UTSW 10 77,783,807 (GRCm39) missense probably damaging 1.00
R8239:Trpm2 UTSW 10 77,771,836 (GRCm39) missense probably benign 0.06
R8275:Trpm2 UTSW 10 77,801,859 (GRCm39) nonsense probably null
R8340:Trpm2 UTSW 10 77,759,458 (GRCm39) nonsense probably null
R8354:Trpm2 UTSW 10 77,769,483 (GRCm39) missense probably damaging 1.00
R8427:Trpm2 UTSW 10 77,747,236 (GRCm39) missense possibly damaging 0.93
R8445:Trpm2 UTSW 10 77,746,086 (GRCm39) missense probably damaging 1.00
R8769:Trpm2 UTSW 10 77,768,128 (GRCm39) missense probably benign 0.00
R9144:Trpm2 UTSW 10 77,765,122 (GRCm39) missense probably benign 0.01
R9286:Trpm2 UTSW 10 77,777,014 (GRCm39) missense probably benign 0.06
R9319:Trpm2 UTSW 10 77,785,032 (GRCm39) missense probably damaging 1.00
R9319:Trpm2 UTSW 10 77,778,776 (GRCm39) nonsense probably null
R9381:Trpm2 UTSW 10 77,747,191 (GRCm39) missense possibly damaging 0.90
R9457:Trpm2 UTSW 10 77,747,226 (GRCm39) missense possibly damaging 0.82
R9477:Trpm2 UTSW 10 77,747,224 (GRCm39) missense probably benign 0.12
R9547:Trpm2 UTSW 10 77,748,467 (GRCm39) missense probably benign 0.33
R9660:Trpm2 UTSW 10 77,766,389 (GRCm39) missense probably benign 0.00
R9663:Trpm2 UTSW 10 77,756,320 (GRCm39) missense probably benign 0.01
Z1177:Trpm2 UTSW 10 77,773,702 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CTATGTTCCCAGCACTCACG -3'
(R):5'- ACTTAGTGTGAACGTCACTGAGC -3'

Sequencing Primer
(F):5'- AGCACTCACGTTCAGCTTGATG -3'
(R):5'- AGCAGTGCTCCCTCTCAG -3'
Posted On 2019-10-17