Mutagenetix > Incidental Mutation

Incidental Mutation 'R4714:Trpm6'

353480

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

041956-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18727347-18869875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18831564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1476 (S1476R)

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040489]

AlphaFold

Q8CIR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040489
AA Change: S1476R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: S1476R

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4930486L24Rik	A	G	13: 60,992,132 (GRCm39)	V298A	probably damaging	Het
Abca12	A	G	1: 71,360,609 (GRCm39)	V534A	probably benign	Het
Abcb4	A	G	5: 8,980,906 (GRCm39)		probably null	Het
Adam30	A	T	3: 98,070,170 (GRCm39)	S668C	probably damaging	Het
Ap1g1	T	A	8: 110,556,252 (GRCm39)	V196D	probably damaging	Het
Atp11b	G	A	3: 35,888,543 (GRCm39)	V738I	probably benign	Het
Cast	C	T	13: 74,946,834 (GRCm39)	V27I	probably damaging	Het
Cfap54	A	G	10: 92,651,780 (GRCm39)	I3090T	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Champ1	T	C	8: 13,928,063 (GRCm39)	Y74H	probably damaging	Het
Cpm	T	C	10: 117,511,890 (GRCm39)	I278T	probably damaging	Het
Dcaf15	T	C	8: 84,828,845 (GRCm39)	T141A	probably benign	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Defb8	A	G	8: 19,497,575 (GRCm39)	L12P	probably damaging	Het
Dlg1	A	T	16: 31,609,079 (GRCm39)	I225F	probably damaging	Het
Dync2h1	G	T	9: 7,118,932 (GRCm39)	H2178N	possibly damaging	Het
Enam	A	G	5: 88,651,395 (GRCm39)	E893G	probably damaging	Het
Flt4	T	A	11: 49,518,034 (GRCm39)	L358Q	probably damaging	Het
Frmpd1	A	G	4: 45,284,785 (GRCm39)	Q1202R	probably benign	Het
Ghr	T	A	15: 3,349,879 (GRCm39)	D433V	possibly damaging	Het
Grm7	G	A	6: 111,057,383 (GRCm39)	D328N	possibly damaging	Het
Haus4	T	C	14: 54,779,577 (GRCm39)	D349G	probably benign	Het
Helz	T	C	11: 107,517,542 (GRCm39)		probably null	Het
Hif3a	A	G	7: 16,790,196 (GRCm39)	L69P	probably damaging	Het
Ifit1	A	G	19: 34,625,563 (GRCm39)	E233G	probably damaging	Het
Kcnc2	T	C	10: 112,291,733 (GRCm39)	F307S	possibly damaging	Het
Lrp1b	A	T	2: 41,000,771 (GRCm39)	V2151E	possibly damaging	Het
Lrp5	T	C	19: 3,709,454 (GRCm39)	N92S	probably damaging	Het
Metrnl	C	T	11: 121,606,839 (GRCm39)	A216V	probably damaging	Het
Msh2	A	G	17: 88,026,217 (GRCm39)	T732A	probably damaging	Het
Necab2	T	C	8: 120,194,334 (GRCm39)	L270P	probably damaging	Het
Noc3l	T	C	19: 38,804,157 (GRCm39)	K74E	probably benign	Het
Oas2	A	T	5: 120,871,537 (GRCm39)	L702Q	probably damaging	Het
Or1j1	A	T	2: 36,703,047 (GRCm39)	I19N	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or4k1	A	G	14: 50,377,436 (GRCm39)	I220T	possibly damaging	Het
Or4k6	C	A	14: 50,475,824 (GRCm39)	V173L	possibly damaging	Het
Or6c216	A	T	10: 129,678,814 (GRCm39)	N32K	probably damaging	Het
Pax6	A	G	2: 105,525,745 (GRCm39)	H376R	possibly damaging	Het
Pnkd	C	T	1: 74,390,941 (GRCm39)	R376C	probably damaging	Het
Pnpla8	T	C	12: 44,342,696 (GRCm39)	F484S	probably damaging	Het
Psme4	T	A	11: 30,782,573 (GRCm39)	H909Q	probably benign	Het
Rasip1	CGG	CGGG	7: 45,281,820 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,182,395 (GRCm39)	Y413N	probably damaging	Het
Rnf123	A	G	9: 107,929,638 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,461,412 (GRCm39)	M259K	possibly damaging	Het
Sohlh2	A	G	3: 55,097,950 (GRCm39)	H134R	probably benign	Het
Sorbs2	A	G	8: 46,248,330 (GRCm39)	D447G	possibly damaging	Het
Tank	C	T	2: 61,480,573 (GRCm39)	P370S	probably benign	Het
Tenm4	A	G	7: 96,544,131 (GRCm39)	E2049G	probably damaging	Het
Tnik	A	G	3: 28,648,226 (GRCm39)	H426R	possibly damaging	Het
Trpm7	G	A	2: 126,682,703 (GRCm39)	Q389*	probably null	Het
Ttc28	G	A	5: 111,433,095 (GRCm39)	R2043Q	possibly damaging	Het
Tymp	A	G	15: 89,260,510 (GRCm39)	S103P	probably damaging	Het
Usp40	C	T	1: 87,894,901 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,685,977 (GRCm39)	N147Y	probably damaging	Het
Vmn2r89	T	C	14: 51,689,688 (GRCm39)	S64P	probably damaging	Het
Vps13a	A	T	19: 16,727,220 (GRCm39)	D229E	probably benign	Het
Vps52	A	G	17: 34,180,153 (GRCm39)	I354V	probably benign	Het
Zbtb8os	T	C	4: 129,235,557 (GRCm39)	F90L	probably damaging	Het
Zfp36l1	T	C	12: 80,157,270 (GRCm39)	D37G	possibly damaging	Het
Zfp467	A	G	6: 48,404,751 (GRCm39)	S109P	unknown	Het
Zzef1	T	A	11: 72,728,038 (GRCm39)	C535S	probably damaging	Het

Other mutations in Trpm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1512:Trpm6	UTSW	19	18,853,295 (GRCm39)	missense	probably benign
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
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'- TTGGTAGCGGAACACAAAGACC -3'
(R):5'- CTCTGCAGAGAGGATTGATCC -3'

Sequencing Primer
(F):5'- CATGAGGCAGTTACACAGATGTC -3'
(R):5'- GATCCAAAAGGATCTTCTTGCCTGG -3'

Posted On

2015-10-21