Incidental Mutation 'R1183:Trpm2'
ID 101776
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 039255-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R1183 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 77743556-77805746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77759398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1129 (Y1129H)
Ref Sequence ENSEMBL: ENSMUSP00000101040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105401]
AlphaFold Q91YD4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105400
Predicted Effect probably damaging
Transcript: ENSMUST00000105401
AA Change: Y1129H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: Y1129H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217806
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T G 8: 111,768,206 (GRCm39) Y192* probably null Het
Abcc6 T C 7: 45,634,677 (GRCm39) Y1100C probably damaging Het
Adamtsl2 T C 2: 26,974,092 (GRCm39) W132R probably damaging Het
Adgra2 T A 8: 27,604,416 (GRCm39) V497E probably damaging Het
Adtrp T G 13: 41,981,813 (GRCm39) probably benign Het
Alg9 T A 9: 50,700,833 (GRCm39) L201Q possibly damaging Het
Ap4e1 T A 2: 126,856,121 (GRCm39) I84K probably damaging Het
Atrnl1 T C 19: 57,638,725 (GRCm39) S288P probably damaging Het
Bltp1 T A 3: 36,949,452 (GRCm39) L366Q possibly damaging Het
Cacna1a A G 8: 85,306,846 (GRCm39) D1367G probably damaging Het
Card19 C T 13: 49,358,727 (GRCm39) R82Q probably damaging Het
Cep128 T C 12: 91,292,372 (GRCm39) I226V possibly damaging Het
Ces1f A C 8: 93,994,633 (GRCm39) D259E probably benign Het
Ckap5 T A 2: 91,416,611 (GRCm39) M1072K probably benign Het
Dcpp2 T A 17: 24,119,468 (GRCm39) V94D probably benign Het
Dnah2 T C 11: 69,337,474 (GRCm39) D3209G possibly damaging Het
Dsg1c A G 18: 20,416,255 (GRCm39) T719A probably damaging Het
Dsp G A 13: 38,375,716 (GRCm39) W1167* probably null Het
Eml5 T C 12: 98,758,305 (GRCm39) I1874V probably benign Het
Epg5 A G 18: 78,003,926 (GRCm39) T645A probably damaging Het
F2rl2 T C 13: 95,837,621 (GRCm39) L222S probably damaging Het
Fam114a1 T A 5: 65,191,731 (GRCm39) C495S probably damaging Het
Fbn1 A T 2: 125,163,537 (GRCm39) D2106E probably benign Het
Fgf14 T A 14: 124,913,936 (GRCm39) N65I probably benign Het
Fip1l1 T C 5: 74,755,763 (GRCm39) Y497H probably damaging Het
Fn1 A C 1: 71,625,404 (GRCm39) D2376E probably damaging Het
Foxd2 T C 4: 114,764,662 (GRCm39) T453A possibly damaging Het
Galnt1 G T 18: 24,404,647 (GRCm39) W328L probably damaging Het
Gapt A G 13: 110,490,372 (GRCm39) V97A possibly damaging Het
Gatad1 A G 5: 3,693,707 (GRCm39) V154A possibly damaging Het
Gdf15 A G 8: 71,084,202 (GRCm39) F21L probably benign Het
Igdcc4 T C 9: 65,029,182 (GRCm39) F273S possibly damaging Het
Invs A T 4: 48,421,725 (GRCm39) R786W possibly damaging Het
Itfg1 T G 8: 86,507,152 (GRCm39) E236A probably benign Het
Jak3 A T 8: 72,137,194 (GRCm39) I752F probably damaging Het
Kcnip3 C A 2: 127,306,985 (GRCm39) G144W probably damaging Het
Kctd19 T C 8: 106,109,598 (GRCm39) H925R probably benign Het
Kdr C T 5: 76,107,511 (GRCm39) A1011T probably damaging Het
Kif13b C A 14: 65,019,826 (GRCm39) H1398Q probably benign Het
Lrp4 A T 2: 91,307,864 (GRCm39) probably null Het
Lrtm2 T C 6: 119,297,846 (GRCm39) D65G probably benign Het
Lyz1 A G 10: 117,128,715 (GRCm39) L10P probably damaging Het
Metap2 A T 10: 93,706,046 (GRCm39) N245K probably damaging Het
Mms19 T C 19: 41,943,270 (GRCm39) D297G possibly damaging Het
Mocs3 A G 2: 168,073,573 (GRCm39) D340G possibly damaging Het
Mtfr1l A G 4: 134,256,436 (GRCm39) L243P probably damaging Het
Mtss1 A G 15: 58,842,897 (GRCm39) I105T probably damaging Het
Myo18a T C 11: 77,748,571 (GRCm39) S1967P probably damaging Het
Ncor2 T C 5: 125,100,585 (GRCm39) N2248S possibly damaging Het
Nfatc2 T C 2: 168,432,008 (GRCm39) D35G possibly damaging Het
Nup210l T A 3: 90,067,252 (GRCm39) M764K probably benign Het
Or10a3n A G 7: 108,492,948 (GRCm39) L222P probably damaging Het
Otof T C 5: 30,529,256 (GRCm39) S1753G probably damaging Het
Otog G A 7: 45,939,179 (GRCm39) V2070I probably benign Het
Piezo2 A G 18: 63,219,824 (GRCm39) V961A probably damaging Het
Pofut1 C T 2: 153,103,158 (GRCm39) S169L probably benign Het
Ppp1r10 T A 17: 36,240,335 (GRCm39) S542T possibly damaging Het
Prpf8 T C 11: 75,381,156 (GRCm39) Y219H possibly damaging Het
Ptges3l T C 11: 101,312,731 (GRCm39) D113G possibly damaging Het
Pycr3 G A 15: 75,790,647 (GRCm39) L71F probably benign Het
Ramp3 A G 11: 6,624,867 (GRCm39) K54E possibly damaging Het
Rbpms C A 8: 34,294,100 (GRCm39) Q214H possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo4 C A 9: 37,319,348 (GRCm39) D565E probably damaging Het
S100a1 C T 3: 90,418,641 (GRCm39) V58I probably benign Het
Setx T A 2: 29,070,104 (GRCm39) D2636E probably benign Het
Sun2 A T 15: 79,612,669 (GRCm39) V417E probably damaging Het
Tbccd1 T C 16: 22,660,519 (GRCm39) N99S probably benign Het
Tex15 A G 8: 34,064,893 (GRCm39) D1441G probably benign Het
Tmc2 T A 2: 130,089,896 (GRCm39) M627K probably damaging Het
Trim32 A G 4: 65,532,628 (GRCm39) Y395C probably benign Het
Trpm8 A T 1: 88,275,813 (GRCm39) R470S probably damaging Het
Tsg101 G T 7: 46,539,372 (GRCm39) D389E probably benign Het
Ubn1 T C 16: 4,882,406 (GRCm39) L46P probably damaging Het
Ubr5 T C 15: 37,997,419 (GRCm39) I1745V possibly damaging Het
Usp20 T C 2: 30,901,797 (GRCm39) Y521H probably benign Het
Vmn1r159 A T 7: 22,543,019 (GRCm39) H4Q probably null Het
Vmn2r27 T A 6: 124,177,491 (GRCm39) E504D probably benign Het
Wdr72 A T 9: 74,086,867 (GRCm39) I612F probably benign Het
Zbtb8a T C 4: 129,251,520 (GRCm39) H317R possibly damaging Het
Zfp507 T C 7: 35,494,315 (GRCm39) S243G probably damaging Het
Zfp764 A G 7: 127,005,419 (GRCm39) W73R probably damaging Het
Zmym4 A T 4: 126,819,632 (GRCm39) D90E 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
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
R7571:Trpm2 UTSW 10 77,773,784 (GRCm39) missense probably benign 0.21
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'- TCCCACAAGTTGAGCATGAGCC -3'
(R):5'- TGTCCTGAAGATCCCTGCCAAGAG -3'

Sequencing Primer
(F):5'- TTGAGCATGAGCCCTCCC -3'
(R):5'- tggggagggaagatggag -3'
Posted On 2014-01-15