Incidental Mutation 'R7486:Trpm7'
ID 580138
Institutional Source Beutler Lab
Gene Symbol Trpm7
Ensembl Gene ENSMUSG00000027365
Gene Name transient receptor potential cation channel, subfamily M, member 7
Synonyms CHAK, 5033407O22Rik, TRP-PLIK, 4833414K03Rik, CHAK1, LTRPC7, Ltpr7, 2310022G15Rik
MMRRC Submission 045560-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7486 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 126633485-126718150 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 126673115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028843] [ENSMUST00000103224]
AlphaFold Q923J1
PDB Structure CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (AMPPNP COMPLEX) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (ADP-MG COMPLEX) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (APO) [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000028843
SMART Domains Protein: ENSMUSP00000028843
Gene: ENSMUSG00000027365

DomainStartEndE-ValueType
Blast:ANK 438 467 5e-6 BLAST
low complexity region 541 555 N/A INTRINSIC
transmembrane domain 757 774 N/A INTRINSIC
transmembrane domain 853 875 N/A INTRINSIC
Pfam:Ion_trans 887 1096 3e-8 PFAM
PDB:3E7K|H 1198 1249 6e-27 PDB
low complexity region 1385 1397 N/A INTRINSIC
Blast:Alpha_kinase 1398 1545 6e-64 BLAST
Alpha_kinase 1596 1813 3.77e-89 SMART
Predicted Effect probably null
Transcript: ENSMUST00000103224
SMART Domains Protein: ENSMUSP00000099513
Gene: ENSMUSG00000027365

DomainStartEndE-ValueType
Blast:ANK 438 467 5e-6 BLAST
low complexity region 541 555 N/A INTRINSIC
transmembrane domain 757 774 N/A INTRINSIC
Pfam:Ion_trans 855 1108 1.7e-9 PFAM
Pfam:TRPM_tetra 1194 1249 3.3e-29 PFAM
low complexity region 1385 1397 N/A INTRINSIC
Blast:Alpha_kinase 1398 1546 2e-64 BLAST
Alpha_kinase 1597 1814 3.77e-89 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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 is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele display embryonic lehality. Mice with conditional deletion in developing thymocytes display a block in thymopoiesis. Mice homozygous for a kinase deleted allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit altered magnesium homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 T C 12: 81,605,657 (GRCm39) I702V probably benign Het
Adgre5 T C 8: 84,450,515 (GRCm39) E815G probably damaging Het
Adgrl2 A G 3: 148,523,330 (GRCm39) V298A Het
Akp3 A G 1: 87,053,201 (GRCm39) D91G probably damaging Het
Ano8 A G 8: 71,937,642 (GRCm39) probably null Het
Blvra T C 2: 126,929,243 (GRCm39) S136P unknown Het
Cacul1 T A 19: 60,568,868 (GRCm39) M97L probably benign Het
Ccdc80 T C 16: 44,946,542 (GRCm39) V827A probably damaging Het
Cep68 T C 11: 20,192,166 (GRCm39) E11G probably benign Het
Cfap221 A T 1: 119,851,322 (GRCm39) V813E possibly damaging Het
Chd6 A G 2: 160,791,923 (GRCm39) V2478A probably damaging Het
Chmp6 T C 11: 119,807,783 (GRCm39) F148S probably benign Het
Clca3a2 T A 3: 144,503,362 (GRCm39) I863F probably damaging Het
Cnnm2 T C 19: 46,750,513 (GRCm39) V101A possibly damaging Het
Cpne8 A T 15: 90,400,109 (GRCm39) probably null Het
Dmbt1 T G 7: 130,668,192 (GRCm39) C483G unknown Het
Dnah7b G A 1: 46,329,894 (GRCm39) G3246D probably damaging Het
Dnajc3 C A 14: 119,209,816 (GRCm39) T297K probably benign Het
Dpm3 A G 3: 89,174,034 (GRCm39) probably null Het
Eef2k A G 7: 120,457,793 (GRCm39) N51D probably benign Het
Erc1 G A 6: 119,571,907 (GRCm39) Q1022* probably null Het
Ercc5 T A 1: 44,187,224 (GRCm39) M1K probably null Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fat4 C A 3: 39,011,576 (GRCm39) Y2225* probably null Het
Frk G A 10: 34,423,292 (GRCm39) W123* probably null Het
Gm11568 T A 11: 99,749,292 (GRCm39) C166S unknown Het
Gpr153 A G 4: 152,366,858 (GRCm39) D337G probably benign Het
Gpt2 T C 8: 86,252,235 (GRCm39) F517L probably damaging Het
Gsg1 C T 6: 135,214,427 (GRCm39) E361K probably benign Het
Hsfy2 G A 1: 56,676,130 (GRCm39) R136* probably null Het
Insm1 G A 2: 146,065,738 (GRCm39) R518H probably damaging Het
Kank1 G A 19: 25,388,193 (GRCm39) C622Y probably damaging Het
Katnb1 T A 8: 95,825,357 (GRCm39) S640R probably damaging Het
Kcnmb4 A G 10: 116,254,180 (GRCm39) V199A probably benign Het
Lamb1 T G 12: 31,337,441 (GRCm39) S391A probably benign Het
Larp7-ps A T 4: 92,079,506 (GRCm39) V105E probably benign Het
Macf1 T G 4: 123,303,374 (GRCm39) D376A probably benign Het
Map7d1 C A 4: 126,128,179 (GRCm39) R614L unknown Het
Mcm8 C T 2: 132,681,440 (GRCm39) R667W probably damaging Het
Med13l C T 5: 118,866,539 (GRCm39) T531I probably benign Het
Mstn G T 1: 53,103,128 (GRCm39) A155S probably damaging Het
Mycbp2 C T 14: 103,434,690 (GRCm39) R2251K probably damaging Het
Myo19 T C 11: 84,796,463 (GRCm39) S692P probably benign Het
Nipbl A T 15: 8,325,120 (GRCm39) N2514K probably benign Het
Nkd2 T A 13: 73,995,561 (GRCm39) probably benign Het
Nox3 T A 17: 3,720,219 (GRCm39) Y322F probably damaging Het
Nt5dc1 A G 10: 34,275,805 (GRCm39) Y135H probably benign Het
Oog3 T A 4: 143,884,742 (GRCm39) H398L probably benign Het
Or10g9 T A 9: 39,912,181 (GRCm39) Y114F probably benign Het
Or12j4 C T 7: 140,045,947 (GRCm39) probably benign Het
Or1e29 T C 11: 73,667,847 (GRCm39) Y102C probably damaging Het
Otogl A G 10: 107,657,849 (GRCm39) L1027P probably damaging Het
Pcdh20 T A 14: 88,706,050 (GRCm39) I417F possibly damaging Het
Pcdha12 T A 18: 37,154,610 (GRCm39) V443E probably damaging Het
Pcdhga2 A G 18: 37,803,461 (GRCm39) D435G probably benign Het
Pcnt G T 10: 76,254,270 (GRCm39) T853K probably benign Het
Pcnt T C 10: 76,254,271 (GRCm39) T853A probably benign Het
Pgghg T A 7: 140,522,393 (GRCm39) S57R probably benign Het
Ppm1m T C 9: 106,073,810 (GRCm39) D301G probably damaging Het
Ppp6r1 A G 7: 4,642,899 (GRCm39) V519A probably benign Het
Prss41 ACAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCA 17: 24,063,072 (GRCm39) probably benign Het
Rasa3 C T 8: 13,640,201 (GRCm39) probably null Het
Robo4 T C 9: 37,316,870 (GRCm39) V395A probably damaging Het
Scrib A G 15: 75,929,499 (GRCm39) S1123P probably damaging Het
Setd1b A G 5: 123,301,655 (GRCm39) K45E probably benign Het
Slc14a1 T C 18: 78,154,739 (GRCm39) S216G probably benign Het
Slc25a45 A G 19: 5,934,997 (GRCm39) Y282C probably damaging Het
Slc6a5 T C 7: 49,567,078 (GRCm39) S255P possibly damaging Het
Smc2 A T 4: 52,462,861 (GRCm39) Q617L possibly damaging Het
Spo11 G A 2: 172,825,870 (GRCm39) D103N probably benign Het
Tcf20 A T 15: 82,737,935 (GRCm39) M1172K possibly damaging Het
Tesc T A 5: 118,184,382 (GRCm39) S21T probably benign Het
Tie1 C A 4: 118,337,101 (GRCm39) probably null Het
Trim24 T G 6: 37,934,774 (GRCm39) probably null Het
Unc13d T C 11: 115,965,259 (GRCm39) D193G possibly damaging Het
Upk3a A T 15: 84,902,225 (GRCm39) probably null Het
Vmn2r25 T C 6: 123,800,101 (GRCm39) N747S probably damaging Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) probably benign Het
Zbtb2 G A 10: 4,319,025 (GRCm39) Q334* probably null Het
Zfp653 T C 9: 21,967,824 (GRCm39) N494D probably damaging Het
Zfp865 A G 7: 5,034,259 (GRCm39) D748G possibly damaging Het
Zzef1 T C 11: 72,755,612 (GRCm39) S1014P possibly damaging Het
Other mutations in Trpm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Trpm7 APN 2 126,670,951 (GRCm39) missense possibly damaging 0.82
IGL01084:Trpm7 APN 2 126,687,992 (GRCm39) critical splice donor site probably null
IGL01634:Trpm7 APN 2 126,668,738 (GRCm39) missense probably damaging 1.00
IGL01678:Trpm7 APN 2 126,658,719 (GRCm39) missense probably damaging 0.99
IGL02005:Trpm7 APN 2 126,655,104 (GRCm39) missense probably damaging 0.97
IGL02064:Trpm7 APN 2 126,639,863 (GRCm39) missense probably damaging 1.00
IGL02156:Trpm7 APN 2 126,641,163 (GRCm39) unclassified probably benign
IGL02172:Trpm7 APN 2 126,637,248 (GRCm39) missense possibly damaging 0.94
IGL02334:Trpm7 APN 2 126,649,282 (GRCm39) missense probably benign
IGL02375:Trpm7 APN 2 126,667,664 (GRCm39) missense probably damaging 1.00
IGL02388:Trpm7 APN 2 126,661,811 (GRCm39) missense possibly damaging 0.80
IGL02552:Trpm7 APN 2 126,682,699 (GRCm39) missense probably damaging 1.00
IGL02684:Trpm7 APN 2 126,688,079 (GRCm39) missense probably damaging 0.99
IGL02901:Trpm7 APN 2 126,649,207 (GRCm39) critical splice donor site probably null
Accused UTSW 2 126,668,657 (GRCm39) missense probably damaging 0.99
Condemned UTSW 2 126,677,428 (GRCm39) missense probably damaging 1.00
denounced UTSW 2 126,654,941 (GRCm39) missense probably benign 0.00
deposed UTSW 2 126,639,418 (GRCm39) missense probably benign 0.01
Summac UTSW 2 126,661,883 (GRCm39) missense probably damaging 1.00
Vacated UTSW 2 126,691,842 (GRCm39) missense probably damaging 1.00
P0037:Trpm7 UTSW 2 126,658,677 (GRCm39) splice site probably benign
R0038:Trpm7 UTSW 2 126,637,388 (GRCm39) missense probably damaging 1.00
R0139:Trpm7 UTSW 2 126,654,691 (GRCm39) missense probably benign
R0165:Trpm7 UTSW 2 126,639,433 (GRCm39) missense probably damaging 0.97
R0511:Trpm7 UTSW 2 126,668,638 (GRCm39) nonsense probably null
R0543:Trpm7 UTSW 2 126,690,449 (GRCm39) missense probably damaging 1.00
R0784:Trpm7 UTSW 2 126,687,992 (GRCm39) critical splice donor site probably null
R0844:Trpm7 UTSW 2 126,677,428 (GRCm39) missense probably damaging 1.00
R0865:Trpm7 UTSW 2 126,641,159 (GRCm39) splice site probably null
R0919:Trpm7 UTSW 2 126,673,158 (GRCm39) missense probably damaging 1.00
R0972:Trpm7 UTSW 2 126,646,969 (GRCm39) missense probably benign
R1109:Trpm7 UTSW 2 126,639,713 (GRCm39) missense probably benign 0.01
R1118:Trpm7 UTSW 2 126,664,406 (GRCm39) missense possibly damaging 0.63
R1278:Trpm7 UTSW 2 126,667,374 (GRCm39) nonsense probably null
R1527:Trpm7 UTSW 2 126,672,082 (GRCm39) missense probably benign 0.18
R1542:Trpm7 UTSW 2 126,664,519 (GRCm39) nonsense probably null
R1882:Trpm7 UTSW 2 126,654,697 (GRCm39) missense probably benign 0.00
R1951:Trpm7 UTSW 2 126,673,219 (GRCm39) missense probably damaging 1.00
R2011:Trpm7 UTSW 2 126,665,917 (GRCm39) nonsense probably null
R2012:Trpm7 UTSW 2 126,665,917 (GRCm39) nonsense probably null
R2026:Trpm7 UTSW 2 126,654,658 (GRCm39) missense probably benign 0.39
R2067:Trpm7 UTSW 2 126,639,647 (GRCm39) missense probably damaging 1.00
R2926:Trpm7 UTSW 2 126,700,329 (GRCm39) splice site probably benign
R3082:Trpm7 UTSW 2 126,686,342 (GRCm39) missense possibly damaging 0.90
R3552:Trpm7 UTSW 2 126,668,630 (GRCm39) splice site probably benign
R3607:Trpm7 UTSW 2 126,638,348 (GRCm39) intron probably benign
R3739:Trpm7 UTSW 2 126,693,441 (GRCm39) missense probably damaging 1.00
R3943:Trpm7 UTSW 2 126,673,138 (GRCm39) missense possibly damaging 0.94
R4161:Trpm7 UTSW 2 126,658,751 (GRCm39) missense probably damaging 1.00
R4176:Trpm7 UTSW 2 126,671,083 (GRCm39) missense possibly damaging 0.83
R4392:Trpm7 UTSW 2 126,690,458 (GRCm39) missense probably damaging 1.00
R4392:Trpm7 UTSW 2 126,637,429 (GRCm39) splice site probably null
R4404:Trpm7 UTSW 2 126,675,635 (GRCm39) missense probably damaging 0.97
R4574:Trpm7 UTSW 2 126,639,131 (GRCm39) missense probably benign 0.01
R4714:Trpm7 UTSW 2 126,682,703 (GRCm39) nonsense probably null
R4807:Trpm7 UTSW 2 126,673,149 (GRCm39) missense probably benign 0.00
R4815:Trpm7 UTSW 2 126,700,412 (GRCm39) missense probably damaging 1.00
R4846:Trpm7 UTSW 2 126,655,105 (GRCm39) missense possibly damaging 0.63
R4972:Trpm7 UTSW 2 126,665,978 (GRCm39) missense probably damaging 1.00
R5097:Trpm7 UTSW 2 126,638,256 (GRCm39) critical splice donor site probably null
R5263:Trpm7 UTSW 2 126,663,137 (GRCm39) missense probably benign 0.34
R5361:Trpm7 UTSW 2 126,671,161 (GRCm39) missense possibly damaging 0.77
R5377:Trpm7 UTSW 2 126,684,775 (GRCm39) critical splice donor site probably null
R5574:Trpm7 UTSW 2 126,654,950 (GRCm39) missense probably benign
R5782:Trpm7 UTSW 2 126,639,634 (GRCm39) missense probably benign 0.04
R5840:Trpm7 UTSW 2 126,664,531 (GRCm39) nonsense probably null
R6044:Trpm7 UTSW 2 126,656,665 (GRCm39) missense probably damaging 1.00
R6178:Trpm7 UTSW 2 126,679,301 (GRCm39) missense probably damaging 1.00
R6196:Trpm7 UTSW 2 126,667,559 (GRCm39) missense possibly damaging 0.66
R6457:Trpm7 UTSW 2 126,649,214 (GRCm39) missense probably benign
R6530:Trpm7 UTSW 2 126,654,631 (GRCm39) missense probably damaging 1.00
R6764:Trpm7 UTSW 2 126,686,340 (GRCm39) missense possibly damaging 0.79
R6841:Trpm7 UTSW 2 126,654,941 (GRCm39) missense probably benign 0.00
R6868:Trpm7 UTSW 2 126,679,334 (GRCm39) missense probably damaging 1.00
R7250:Trpm7 UTSW 2 126,668,685 (GRCm39) missense possibly damaging 0.87
R7402:Trpm7 UTSW 2 126,641,126 (GRCm39) missense probably damaging 1.00
R7451:Trpm7 UTSW 2 126,668,657 (GRCm39) missense probably damaging 0.99
R7509:Trpm7 UTSW 2 126,691,842 (GRCm39) missense probably damaging 1.00
R7586:Trpm7 UTSW 2 126,652,085 (GRCm39) missense probably benign
R7774:Trpm7 UTSW 2 126,655,158 (GRCm39) missense probably benign 0.09
R7793:Trpm7 UTSW 2 126,665,995 (GRCm39) nonsense probably null
R7812:Trpm7 UTSW 2 126,641,236 (GRCm39) missense probably damaging 1.00
R7900:Trpm7 UTSW 2 126,639,418 (GRCm39) missense probably benign 0.01
R7951:Trpm7 UTSW 2 126,655,188 (GRCm39) missense possibly damaging 0.94
R7965:Trpm7 UTSW 2 126,667,614 (GRCm39) missense probably damaging 0.99
R7992:Trpm7 UTSW 2 126,667,454 (GRCm39) missense probably benign
R8034:Trpm7 UTSW 2 126,688,119 (GRCm39) missense probably damaging 0.98
R8199:Trpm7 UTSW 2 126,691,918 (GRCm39) missense probably damaging 1.00
R8304:Trpm7 UTSW 2 126,639,797 (GRCm39) missense probably damaging 1.00
R8405:Trpm7 UTSW 2 126,658,755 (GRCm39) missense probably benign 0.26
R8674:Trpm7 UTSW 2 126,641,086 (GRCm39) unclassified probably benign
R8742:Trpm7 UTSW 2 126,667,469 (GRCm39) missense probably damaging 1.00
R8754:Trpm7 UTSW 2 126,664,623 (GRCm39) missense probably damaging 1.00
R8842:Trpm7 UTSW 2 126,663,131 (GRCm39) missense probably benign 0.05
R8850:Trpm7 UTSW 2 126,652,100 (GRCm39) missense probably benign 0.00
R8881:Trpm7 UTSW 2 126,661,883 (GRCm39) missense probably damaging 1.00
R8898:Trpm7 UTSW 2 126,664,661 (GRCm39) missense possibly damaging 0.92
R9339:Trpm7 UTSW 2 126,665,906 (GRCm39) missense probably benign 0.04
R9428:Trpm7 UTSW 2 126,671,140 (GRCm39) missense probably damaging 1.00
R9446:Trpm7 UTSW 2 126,672,185 (GRCm39) critical splice acceptor site probably null
R9568:Trpm7 UTSW 2 126,664,510 (GRCm39) missense probably benign 0.02
R9647:Trpm7 UTSW 2 126,667,562 (GRCm39) missense probably damaging 1.00
R9678:Trpm7 UTSW 2 126,686,290 (GRCm39) missense probably damaging 1.00
R9746:Trpm7 UTSW 2 126,664,578 (GRCm39) missense possibly damaging 0.47
X0026:Trpm7 UTSW 2 126,671,210 (GRCm39) missense probably benign
Z1088:Trpm7 UTSW 2 126,639,201 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTAGGGAATCATTCTACCTTGG -3'
(R):5'- TGTCTATTTCTAGGCATGGCAAAG -3'

Sequencing Primer
(F):5'- GAAACAGGGTTTTACCAGCAGTTCTG -3'
(R):5'- TCTAGGCATGGCAAAGTAATAATG -3'
Posted On 2019-10-07