Incidental Mutation 'R1512:Trpm6'
ID 168462
Institutional Source Beutler Lab
Gene Symbol Trpm6
Ensembl Gene ENSMUSG00000024727
Gene Name transient receptor potential cation channel, subfamily M, member 6
Synonyms CHAK2
MMRRC Submission 039559-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1512 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 18727347-18869875 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 18853295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1772 (M1772L)
Ref Sequence ENSEMBL: ENSMUSP00000037443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040489]
AlphaFold Q8CIR4
Predicted Effect probably benign
Transcript: ENSMUST00000040489
AA Change: M1772L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: M1772L

DomainStartEndE-ValueType
Blast:ANK 430 459 4e-8 BLAST
low complexity region 580 604 N/A INTRINSIC
transmembrane domain 749 766 N/A INTRINSIC
Pfam:Ion_trans 847 1087 2.8e-13 PFAM
low complexity region 1113 1126 N/A INTRINSIC
low complexity region 1136 1154 N/A INTRINSIC
Pfam:TRPM_tetra 1176 1231 7.5e-27 PFAM
low complexity region 1320 1331 N/A INTRINSIC
low complexity region 1578 1596 N/A INTRINSIC
Blast:Alpha_kinase 1618 1673 9e-11 BLAST
low complexity region 1682 1695 N/A INTRINSIC
Alpha_kinase 1761 1978 1e-84 SMART
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 95% (79/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic and postnatal lethality with exencephaly, spina bifida occulta, and abnormal brain and facial development. Mice heterozygous for a knock-out allele exhibit some premature death and decreased serummagnesium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,086,295 (GRCm39) D40E probably benign Het
Acsf2 C T 11: 94,452,224 (GRCm39) probably benign Het
Adamts19 C T 18: 59,181,917 (GRCm39) H1119Y possibly damaging Het
Akap6 A G 12: 52,983,937 (GRCm39) D827G probably damaging Het
Ankrd33b T C 15: 31,367,375 (GRCm39) D55G probably damaging Het
Ano5 T A 7: 51,229,316 (GRCm39) H569Q probably benign Het
Aox1 A G 1: 58,346,510 (GRCm39) D548G probably benign Het
Baz2a A G 10: 127,960,021 (GRCm39) D1433G possibly damaging Het
BC031181 T G 18: 75,141,767 (GRCm39) V8G probably damaging Het
Bicdl2 A T 17: 23,887,083 (GRCm39) M457L probably damaging Het
C130074G19Rik T C 1: 184,615,103 (GRCm39) D29G probably damaging Het
Cd200r1 A T 16: 44,586,390 (GRCm39) T7S probably benign Het
Cdc37 A G 9: 21,053,712 (GRCm39) probably benign Het
Cmtr2 T C 8: 110,949,267 (GRCm39) S526P probably damaging Het
Cntn2 G T 1: 132,451,430 (GRCm39) A433D probably damaging Het
Cntnap5a T C 1: 115,828,680 (GRCm39) S35P probably benign Het
Csf3r A G 4: 125,923,777 (GRCm39) T96A possibly damaging Het
Ctbs A G 3: 146,160,720 (GRCm39) N96D probably benign Het
Cyp26b1 C A 6: 84,553,979 (GRCm39) V213L probably benign Het
Dach1 A G 14: 98,138,835 (GRCm39) L536P probably damaging Het
Dcaf6 T C 1: 165,179,589 (GRCm39) Q517R probably benign Het
Dnah1 G T 14: 31,014,994 (GRCm39) Q1733K probably damaging Het
Dnah17 A T 11: 117,985,841 (GRCm39) I1416N probably benign Het
Dock11 G A X: 35,283,688 (GRCm39) R1102H probably damaging Het
Dpp8 T C 9: 64,971,096 (GRCm39) probably benign Het
Emc1 G A 4: 139,087,495 (GRCm39) probably null Het
Emc8 A G 8: 121,384,983 (GRCm39) L76P possibly damaging Het
Emx2 T C 19: 59,448,035 (GRCm39) Y130H possibly damaging Het
Fbf1 C T 11: 116,038,753 (GRCm39) R815Q probably damaging Het
Foxb2 G A 19: 16,849,878 (GRCm39) P376L probably damaging Het
Gabrb1 C A 5: 72,266,047 (GRCm39) L202I probably damaging Het
Gabrb1 T A 5: 72,266,048 (GRCm39) L202Q probably damaging Het
Grin2c T A 11: 115,144,676 (GRCm39) I617F probably damaging Het
Gtf2h3 T A 5: 124,728,933 (GRCm39) V164E probably damaging Het
Gusb T C 5: 130,029,731 (GRCm39) Q88R probably damaging Het
Hormad2 T A 11: 4,374,788 (GRCm39) K75N probably damaging Het
Il33 A G 19: 29,929,390 (GRCm39) T38A possibly damaging Het
Ivns1abp A T 1: 151,236,687 (GRCm39) Q416L possibly damaging Het
Ivns1abp G C 1: 151,236,688 (GRCm39) Q416H probably benign Het
Kcnh5 T A 12: 75,166,711 (GRCm39) H178L probably benign Het
Kif21b A G 1: 136,080,543 (GRCm39) N579S probably benign Het
Kif26a G C 12: 112,113,389 (GRCm39) R95P possibly damaging Het
Kl A G 5: 150,912,062 (GRCm39) I604V probably benign Het
Klhl24 A G 16: 19,941,686 (GRCm39) K545E probably damaging Het
Mcm3ap A G 10: 76,306,347 (GRCm39) I153M probably damaging Het
Meis1 T G 11: 18,831,682 (GRCm39) D452A probably damaging Het
Msantd4 C T 9: 4,384,138 (GRCm39) P153L probably benign Het
Myot A G 18: 44,475,422 (GRCm39) E181G probably damaging Het
Nf1 T C 11: 79,281,195 (GRCm39) F150S probably damaging Het
Nyap2 T A 1: 81,219,566 (GRCm39) S529R probably damaging Het
Or10d3 T C 9: 39,461,390 (GRCm39) Y259C probably damaging Het
Or12e10 A T 2: 87,640,988 (GRCm39) T275S probably benign Het
Or2y1c A G 11: 49,361,286 (GRCm39) I103V probably benign Het
Or8b56 T A 9: 38,739,660 (GRCm39) Y224* probably null Het
Pcnt C T 10: 76,240,496 (GRCm39) probably null Het
Pik3c3 T C 18: 30,455,289 (GRCm39) probably null Het
Pkdcc A T 17: 83,527,473 (GRCm39) Y217F possibly damaging Het
Pnpla6 C A 8: 3,585,459 (GRCm39) probably benign Het
Polr3gl T C 3: 96,488,190 (GRCm39) M26V probably benign Het
Ppp1r13b T C 12: 111,838,842 (GRCm39) N12S possibly damaging Het
Ppp1r26 G A 2: 28,341,528 (GRCm39) R386K probably benign Het
Prdm10 A G 9: 31,248,697 (GRCm39) E355G probably damaging Het
Prex2 T C 1: 11,131,554 (GRCm39) F41S possibly damaging Het
Prkar1b G T 5: 139,036,428 (GRCm39) Y231* probably null Het
Prkdc A T 16: 15,505,268 (GRCm39) I857L probably benign Het
Psg21 A T 7: 18,390,425 (GRCm39) N10K probably benign Het
Rapgef3 A T 15: 97,655,382 (GRCm39) V444E probably benign Het
Rnf17 A T 14: 56,705,243 (GRCm39) T716S probably benign Het
Rps6ka1 C T 4: 133,578,315 (GRCm39) R577H probably damaging Het
Scn1a A C 2: 66,161,629 (GRCm39) N306K possibly damaging Het
Skint6 A G 4: 113,095,329 (GRCm39) I110T probably damaging Het
Ssu2 A G 6: 112,364,959 (GRCm39) M1T probably null Het
Stag3 A T 5: 138,296,247 (GRCm39) T437S probably benign Het
Tal2 A G 4: 53,786,107 (GRCm39) Y96C probably benign Het
Thoc3 A T 13: 54,613,991 (GRCm39) probably null Het
Tle1 T C 4: 72,059,495 (GRCm39) D19G probably damaging Het
Trpm4 A G 7: 44,964,468 (GRCm39) I690T probably benign Het
Unc5b G A 10: 60,667,254 (GRCm39) probably benign Het
Usf3 G T 16: 44,041,561 (GRCm39) V2014F probably damaging Het
Utp18 C T 11: 93,776,390 (GRCm39) A32T probably benign Het
Wdfy4 A G 14: 32,682,765 (GRCm39) V2981A probably damaging Het
Zfp608 A G 18: 55,079,738 (GRCm39) V349A probably damaging Het
Znfx1 A C 2: 166,898,237 (GRCm39) I229S probably benign Het
Other mutations in Trpm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Trpm6 APN 19 18,761,272 (GRCm39) splice site probably benign
IGL00862:Trpm6 APN 19 18,804,892 (GRCm39) missense probably damaging 1.00
IGL01348:Trpm6 APN 19 18,855,015 (GRCm39) missense probably damaging 1.00
IGL01400:Trpm6 APN 19 18,803,158 (GRCm39) nonsense probably null
IGL01451:Trpm6 APN 19 18,786,933 (GRCm39) missense probably damaging 1.00
IGL01508:Trpm6 APN 19 18,773,894 (GRCm39) nonsense probably null
IGL01995:Trpm6 APN 19 18,807,691 (GRCm39) splice site probably benign
IGL02092:Trpm6 APN 19 18,749,695 (GRCm39) missense possibly damaging 0.59
IGL02152:Trpm6 APN 19 18,809,903 (GRCm39) missense possibly damaging 0.93
IGL02294:Trpm6 APN 19 18,831,427 (GRCm39) missense probably benign
IGL02329:Trpm6 APN 19 18,831,581 (GRCm39) missense probably benign 0.17
IGL02366:Trpm6 APN 19 18,755,874 (GRCm39) splice site probably benign
IGL02402:Trpm6 APN 19 18,764,120 (GRCm39) missense probably benign 0.18
IGL02457:Trpm6 APN 19 18,804,762 (GRCm39) nonsense probably null
IGL02457:Trpm6 APN 19 18,803,155 (GRCm39) missense probably damaging 1.00
IGL02684:Trpm6 APN 19 18,779,571 (GRCm39) splice site probably benign
IGL02705:Trpm6 APN 19 18,754,097 (GRCm39) critical splice donor site probably null
IGL02728:Trpm6 APN 19 18,787,016 (GRCm39) missense possibly damaging 0.71
IGL02742:Trpm6 APN 19 18,807,376 (GRCm39) splice site probably benign
IGL02818:Trpm6 APN 19 18,843,621 (GRCm39) missense probably benign 0.04
IGL02836:Trpm6 APN 19 18,790,846 (GRCm39) missense probably damaging 1.00
IGL03119:Trpm6 APN 19 18,815,381 (GRCm39) nonsense probably null
IGL03193:Trpm6 APN 19 18,803,236 (GRCm39) missense possibly damaging 0.94
IGL03227:Trpm6 APN 19 18,764,143 (GRCm39) missense probably benign 0.12
IGL03227:Trpm6 APN 19 18,796,483 (GRCm39) missense probably benign 0.01
IGL03231:Trpm6 APN 19 18,796,545 (GRCm39) missense probably benign
IGL03245:Trpm6 APN 19 18,855,065 (GRCm39) missense probably damaging 1.00
IGL03328:Trpm6 APN 19 18,815,446 (GRCm39) missense possibly damaging 0.94
IGL03341:Trpm6 APN 19 18,790,850 (GRCm39) missense probably benign
P0043:Trpm6 UTSW 19 18,855,129 (GRCm39) missense probably damaging 1.00
PIT4260001:Trpm6 UTSW 19 18,803,166 (GRCm39) missense possibly damaging 0.48
R0057:Trpm6 UTSW 19 18,764,119 (GRCm39) missense probably benign 0.05
R0115:Trpm6 UTSW 19 18,807,316 (GRCm39) missense probably damaging 0.98
R0119:Trpm6 UTSW 19 18,809,957 (GRCm39) missense probably benign 0.05
R0140:Trpm6 UTSW 19 18,796,558 (GRCm39) splice site probably null
R0267:Trpm6 UTSW 19 18,800,742 (GRCm39) missense probably benign
R0350:Trpm6 UTSW 19 18,861,321 (GRCm39) splice site probably null
R0373:Trpm6 UTSW 19 18,830,951 (GRCm39) missense probably benign 0.15
R0393:Trpm6 UTSW 19 18,756,008 (GRCm39) missense probably damaging 0.99
R0416:Trpm6 UTSW 19 18,760,389 (GRCm39) splice site probably benign
R0505:Trpm6 UTSW 19 18,851,266 (GRCm39) splice site probably benign
R0526:Trpm6 UTSW 19 18,770,240 (GRCm39) missense probably damaging 0.97
R0607:Trpm6 UTSW 19 18,849,585 (GRCm39) missense probably benign 0.00
R0609:Trpm6 UTSW 19 18,803,226 (GRCm39) missense probably damaging 0.97
R0714:Trpm6 UTSW 19 18,815,451 (GRCm39) missense possibly damaging 0.90
R1215:Trpm6 UTSW 19 18,773,862 (GRCm39) missense probably damaging 1.00
R1474:Trpm6 UTSW 19 18,773,859 (GRCm39) missense probably benign 0.28
R1558:Trpm6 UTSW 19 18,764,192 (GRCm39) missense probably benign 0.04
R1597:Trpm6 UTSW 19 18,804,888 (GRCm39) missense probably damaging 0.98
R1618:Trpm6 UTSW 19 18,854,995 (GRCm39) missense possibly damaging 0.88
R1779:Trpm6 UTSW 19 18,833,581 (GRCm39) missense probably damaging 1.00
R1796:Trpm6 UTSW 19 18,804,931 (GRCm39) missense possibly damaging 0.90
R1799:Trpm6 UTSW 19 18,869,363 (GRCm39) splice site probably null
R1840:Trpm6 UTSW 19 18,843,631 (GRCm39) missense probably benign 0.21
R1991:Trpm6 UTSW 19 18,773,648 (GRCm39) missense probably benign 0.00
R2030:Trpm6 UTSW 19 18,831,629 (GRCm39) missense probably benign
R2073:Trpm6 UTSW 19 18,853,406 (GRCm39) missense probably damaging 1.00
R2074:Trpm6 UTSW 19 18,855,103 (GRCm39) missense probably damaging 1.00
R2096:Trpm6 UTSW 19 18,803,116 (GRCm39) missense probably damaging 0.97
R2103:Trpm6 UTSW 19 18,773,648 (GRCm39) missense probably benign 0.00
R2106:Trpm6 UTSW 19 18,790,714 (GRCm39) missense possibly damaging 0.95
R2117:Trpm6 UTSW 19 18,807,316 (GRCm39) missense probably damaging 0.98
R2850:Trpm6 UTSW 19 18,769,454 (GRCm39) missense possibly damaging 0.68
R3125:Trpm6 UTSW 19 18,831,795 (GRCm39) missense probably benign 0.05
R3719:Trpm6 UTSW 19 18,749,757 (GRCm39) nonsense probably null
R3779:Trpm6 UTSW 19 18,853,403 (GRCm39) missense possibly damaging 0.80
R4115:Trpm6 UTSW 19 18,809,921 (GRCm39) missense probably damaging 1.00
R4367:Trpm6 UTSW 19 18,804,889 (GRCm39) missense probably damaging 0.99
R4523:Trpm6 UTSW 19 18,773,864 (GRCm39) missense probably damaging 1.00
R4546:Trpm6 UTSW 19 18,809,841 (GRCm39) missense probably damaging 1.00
R4564:Trpm6 UTSW 19 18,809,961 (GRCm39) missense possibly damaging 0.95
R4565:Trpm6 UTSW 19 18,803,236 (GRCm39) missense probably damaging 1.00
R4697:Trpm6 UTSW 19 18,831,155 (GRCm39) missense probably benign 0.01
R4714:Trpm6 UTSW 19 18,831,564 (GRCm39) missense possibly damaging 0.93
R4750:Trpm6 UTSW 19 18,853,428 (GRCm39) missense probably damaging 0.99
R4771:Trpm6 UTSW 19 18,790,857 (GRCm39) missense probably damaging 0.97
R4791:Trpm6 UTSW 19 18,845,345 (GRCm39) missense probably benign 0.00
R4814:Trpm6 UTSW 19 18,839,576 (GRCm39) missense probably benign 0.11
R5028:Trpm6 UTSW 19 18,764,124 (GRCm39) missense probably damaging 1.00
R5237:Trpm6 UTSW 19 18,790,828 (GRCm39) missense probably damaging 1.00
R5615:Trpm6 UTSW 19 18,807,297 (GRCm39) missense probably damaging 0.96
R5642:Trpm6 UTSW 19 18,807,571 (GRCm39) missense probably damaging 1.00
R5645:Trpm6 UTSW 19 18,830,968 (GRCm39) missense probably damaging 1.00
R5726:Trpm6 UTSW 19 18,830,981 (GRCm39) missense probably damaging 1.00
R5832:Trpm6 UTSW 19 18,764,183 (GRCm39) missense possibly damaging 0.66
R5843:Trpm6 UTSW 19 18,833,539 (GRCm39) missense probably benign 0.04
R5955:Trpm6 UTSW 19 18,869,383 (GRCm39) missense possibly damaging 0.75
R6101:Trpm6 UTSW 19 18,831,112 (GRCm39) nonsense probably null
R6105:Trpm6 UTSW 19 18,831,112 (GRCm39) nonsense probably null
R6211:Trpm6 UTSW 19 18,760,492 (GRCm39) missense probably damaging 1.00
R6228:Trpm6 UTSW 19 18,831,655 (GRCm39) missense probably damaging 1.00
R6263:Trpm6 UTSW 19 18,831,472 (GRCm39) missense possibly damaging 0.94
R6453:Trpm6 UTSW 19 18,807,354 (GRCm39) missense probably damaging 1.00
R6562:Trpm6 UTSW 19 18,815,406 (GRCm39) missense probably damaging 1.00
R6624:Trpm6 UTSW 19 18,866,384 (GRCm39) missense probably damaging 1.00
R6624:Trpm6 UTSW 19 18,773,803 (GRCm39) critical splice acceptor site probably null
R6729:Trpm6 UTSW 19 18,807,661 (GRCm39) missense probably damaging 1.00
R6765:Trpm6 UTSW 19 18,855,129 (GRCm39) missense probably damaging 1.00
R6976:Trpm6 UTSW 19 18,760,527 (GRCm39) missense probably benign
R7103:Trpm6 UTSW 19 18,790,911 (GRCm39) missense possibly damaging 0.87
R7126:Trpm6 UTSW 19 18,831,397 (GRCm39) nonsense probably null
R7128:Trpm6 UTSW 19 18,789,137 (GRCm39) missense possibly damaging 0.92
R7157:Trpm6 UTSW 19 18,815,462 (GRCm39) missense possibly damaging 0.91
R7212:Trpm6 UTSW 19 18,831,155 (GRCm39) missense probably benign 0.01
R7263:Trpm6 UTSW 19 18,854,150 (GRCm39) missense probably damaging 1.00
R7268:Trpm6 UTSW 19 18,755,949 (GRCm39) missense probably benign 0.13
R7305:Trpm6 UTSW 19 18,853,455 (GRCm39) missense probably benign 0.30
R7498:Trpm6 UTSW 19 18,853,484 (GRCm39) missense probably damaging 1.00
R7558:Trpm6 UTSW 19 18,756,029 (GRCm39) missense probably damaging 0.96
R7590:Trpm6 UTSW 19 18,809,945 (GRCm39) missense probably benign 0.31
R7646:Trpm6 UTSW 19 18,845,325 (GRCm39) missense probably benign 0.10
R7650:Trpm6 UTSW 19 18,853,377 (GRCm39) missense possibly damaging 0.70
R7727:Trpm6 UTSW 19 18,831,613 (GRCm39) missense probably damaging 0.97
R7743:Trpm6 UTSW 19 18,804,772 (GRCm39) missense probably benign 0.03
R7747:Trpm6 UTSW 19 18,727,409 (GRCm39) splice site probably null
R7807:Trpm6 UTSW 19 18,807,220 (GRCm39) missense probably benign 0.11
R7870:Trpm6 UTSW 19 18,792,605 (GRCm39) missense probably benign 0.01
R7891:Trpm6 UTSW 19 18,754,074 (GRCm39) missense probably benign 0.01
R7955:Trpm6 UTSW 19 18,831,654 (GRCm39) missense probably benign 0.01
R7965:Trpm6 UTSW 19 18,853,474 (GRCm39) missense probably damaging 1.00
R7967:Trpm6 UTSW 19 18,756,023 (GRCm39) missense probably damaging 0.99
R7992:Trpm6 UTSW 19 18,792,714 (GRCm39) missense probably damaging 1.00
R8035:Trpm6 UTSW 19 18,770,226 (GRCm39) missense probably damaging 0.97
R8108:Trpm6 UTSW 19 18,789,154 (GRCm39) missense probably damaging 1.00
R8268:Trpm6 UTSW 19 18,851,225 (GRCm39) missense possibly damaging 0.85
R8411:Trpm6 UTSW 19 18,831,332 (GRCm39) missense probably benign 0.39
R8413:Trpm6 UTSW 19 18,809,849 (GRCm39) missense probably benign 0.00
R8534:Trpm6 UTSW 19 18,869,459 (GRCm39) missense probably benign 0.00
R8932:Trpm6 UTSW 19 18,815,366 (GRCm39) missense possibly damaging 0.87
R8990:Trpm6 UTSW 19 18,792,799 (GRCm39) missense probably damaging 1.00
R9403:Trpm6 UTSW 19 18,810,016 (GRCm39) missense possibly damaging 0.84
R9446:Trpm6 UTSW 19 18,815,462 (GRCm39) missense possibly damaging 0.91
R9463:Trpm6 UTSW 19 18,761,264 (GRCm39) critical splice donor site probably null
R9485:Trpm6 UTSW 19 18,755,978 (GRCm39) missense probably benign 0.06
R9536:Trpm6 UTSW 19 18,764,123 (GRCm39) missense probably damaging 1.00
R9549:Trpm6 UTSW 19 18,853,394 (GRCm39) nonsense probably null
R9564:Trpm6 UTSW 19 18,851,240 (GRCm39) missense possibly damaging 0.92
R9626:Trpm6 UTSW 19 18,790,846 (GRCm39) missense probably damaging 1.00
R9655:Trpm6 UTSW 19 18,869,466 (GRCm39) missense probably benign
R9721:Trpm6 UTSW 19 18,807,336 (GRCm39) missense probably benign 0.12
R9742:Trpm6 UTSW 19 18,800,766 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- AGGCCAATTTGTACCTTGACTCTGC -3'
(R):5'- GCAAAGATGAAGCACAGTGCTCTCC -3'

Sequencing Primer
(F):5'- TCCTTTGATGACAGACACAGC -3'
(R):5'- CTGGAAGATTTTATACCACGTCTGC -3'
Posted On 2014-04-13