Mutagenetix > Incidental Mutation

Incidental Mutation 'R6211:Trpm6'

503483

Institutional Source

Beutler Lab

Gene Symbol

Trpm6

Ensembl Gene

ENSMUSG00000024727

Gene Name

transient receptor potential cation channel, subfamily M, member 6

Synonyms

CHAK2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18727347-18869875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18760492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 131 (I131T)

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

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

AlphaFold

Q8CIR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000040489
AA Change: I131T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: I131T

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,881,503 (GRCm39)	W391R	probably damaging	Het
Arl6ip1	A	T	7: 117,726,473 (GRCm39)	S18R	probably benign	Het
Armc3	G	A	2: 19,301,614 (GRCm39)		probably null	Het
Ccdc162	G	T	10: 41,506,141 (GRCm39)	S883*	probably null	Het
Cd300lg	A	G	11: 101,944,995 (GRCm39)	M358V	possibly damaging	Het
Cdh23	A	G	10: 60,246,600 (GRCm39)	V949A	possibly damaging	Het
Cenpo	C	T	12: 4,266,733 (GRCm39)	S126N	probably benign	Het
Chd3	A	T	11: 69,243,503 (GRCm39)	D1366E	probably damaging	Het
Chd4	A	G	6: 125,078,248 (GRCm39)	E169G	possibly damaging	Het
Clec1b	A	G	6: 129,378,440 (GRCm39)	T24A	possibly damaging	Het
Clhc1	A	G	11: 29,528,145 (GRCm39)	I558V	probably damaging	Het
Col5a2	T	A	1: 45,415,826 (GRCm39)	R1440S	probably damaging	Het
Cops3	A	G	11: 59,708,727 (GRCm39)		probably benign	Het
Cxcr4	A	G	1: 128,517,187 (GRCm39)	V158A	probably damaging	Het
Dnah7a	A	G	1: 53,458,795 (GRCm39)	M3781T	probably damaging	Het
Dnai7	C	T	6: 145,146,217 (GRCm39)	R95Q	probably damaging	Het
Elovl5	C	A	9: 77,888,784 (GRCm39)	T217K	probably damaging	Het
Fbln7	G	T	2: 128,737,260 (GRCm39)	M358I	probably damaging	Het
Fbxl13	C	T	5: 21,689,019 (GRCm39)	R763Q	possibly damaging	Het
Gabrr3	C	A	16: 59,268,471 (GRCm39)	N361K	probably benign	Het
Garre1	A	T	7: 33,938,429 (GRCm39)	H1035Q	possibly damaging	Het
Gbp7	A	G	3: 142,251,754 (GRCm39)	M534V	probably benign	Het
Hcar2	G	A	5: 124,003,017 (GRCm39)	T162I	probably benign	Het
Hdc	A	T	2: 126,435,897 (GRCm39)	L658Q	probably damaging	Het
Hivep3	A	G	4: 119,955,602 (GRCm39)	Y1306C	probably damaging	Het
Homer3	C	T	8: 70,738,174 (GRCm39)	R49C	probably damaging	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Iqgap3	A	G	3: 87,998,822 (GRCm39)	N308D	probably benign	Het
Itga8	G	A	2: 12,198,320 (GRCm39)	T555M	probably damaging	Het
Lrfn5	G	T	12: 61,886,256 (GRCm39)	V15L	probably benign	Het
Lrrk1	T	C	7: 65,952,458 (GRCm39)	K493E	possibly damaging	Het
Lyzl6	A	G	11: 103,525,889 (GRCm39)	I77T	probably damaging	Het
Mavs	G	T	2: 131,082,311 (GRCm39)	R65L	probably damaging	Het
Mdn1	T	G	4: 32,696,269 (GRCm39)	D1217E	probably benign	Het
Or12d13	A	T	17: 37,647,599 (GRCm39)	F175I	possibly damaging	Het
Or52h1	A	T	7: 103,828,954 (GRCm39)	Y220*	probably null	Het
Or9i1	A	G	19: 13,839,938 (GRCm39)	I260M	probably benign	Het
Otof	C	A	5: 30,529,244 (GRCm39)	V1762L	probably damaging	Het
Pcdha12	T	C	18: 37,153,374 (GRCm39)	L31P	probably damaging	Het
Pxk	C	A	14: 8,163,952 (GRCm38)	P515T	probably damaging	Het
Qrich2	A	T	11: 116,344,368 (GRCm39)	D1759E	probably benign	Het
Rps6ka1	A	T	4: 133,596,617 (GRCm39)	F33Y	probably damaging	Het
Rxfp2	G	A	5: 149,967,591 (GRCm39)		probably null	Het
Slc23a4	A	T	6: 34,933,896 (GRCm39)	I202N	probably damaging	Het
Slc24a5	A	T	2: 124,930,171 (GRCm39)	I491F	probably benign	Het
Slco1a1	T	A	6: 141,854,775 (GRCm39)	K625N	probably benign	Het
Snx31	A	G	15: 36,547,030 (GRCm39)	V51A	probably damaging	Het
Sox6	G	T	7: 115,400,697 (GRCm39)	H48Q	probably damaging	Het
Tas2r109	A	T	6: 132,957,587 (GRCm39)	Y114*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Timm13	A	C	10: 80,736,314 (GRCm39)		probably null	Het
Tpsb2	G	A	17: 25,586,737 (GRCm39)	A250T	possibly damaging	Het
Vars2	A	T	17: 35,976,554 (GRCm39)		probably null	Het
Vmn2r35	T	A	7: 7,789,527 (GRCm39)	I737F	probably damaging	Het
Wdr46	C	A	17: 34,163,459 (GRCm39)	T339K	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
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
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'- AACTTTTAGAGAGGCCCCGTG -3'
(R):5'- AGCCACTCAGTATCAGGCTACC -3'

Sequencing Primer
(F):5'- GGCTGCTTTCATGGGCCTC -3'
(R):5'- GGCTACCTGACTCACAGTTAG -3'

Posted On

2018-02-27