Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Trpm6'

551026

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

045195-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18727347-18869875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18790911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 649 (I649F)

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

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

AlphaFold

Q8CIR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040489
AA Change: I649F

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: I649F

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,628,181 (GRCm39)	T294A	probably damaging	Het
Adamtsl2	G	A	2: 26,997,473 (GRCm39)	V893I	probably damaging	Het
Amph	T	A	13: 19,333,908 (GRCm39)	D656E	probably benign	Het
Aoah	T	C	13: 21,207,485 (GRCm39)	F568S	probably damaging	Het
Atr	G	A	9: 95,747,425 (GRCm39)	G236S	probably damaging	Het
Brd3	T	A	2: 27,340,406 (GRCm39)	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,379,426 (GRCm39)	E524G	probably damaging	Het
Cog2	T	C	8: 125,267,853 (GRCm39)		probably null	Het
Csnka2ip	C	A	16: 64,299,120 (GRCm39)	V415F	unknown	Het
Dmp1	A	T	5: 104,359,729 (GRCm39)	D135V	probably damaging	Het
Dtna	T	C	18: 23,786,436 (GRCm39)		probably null	Het
Endou	A	G	15: 97,616,810 (GRCm39)	S238P	probably damaging	Het
Ep400	T	A	5: 110,881,651 (GRCm39)	E779D	unknown	Het
Fcgbp	A	G	7: 27,784,387 (GRCm39)	E149G	probably benign	Het
G6pc1	C	A	11: 101,265,413 (GRCm39)		probably null	Het
Gmeb1	T	C	4: 131,962,179 (GRCm39)	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,312,902 (GRCm39)	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,161,793 (GRCm39)	G199D	probably benign	Het
Hoxb2	T	C	11: 96,244,447 (GRCm39)	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,226,572 (GRCm39)	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,673,648 (GRCm39)		probably null	Het
Kcnmb4	T	C	10: 116,309,164 (GRCm39)	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,005,507 (GRCm39)	Y89C	probably damaging	Het
Kif23	T	A	9: 61,827,174 (GRCm39)	K892N	probably damaging	Het
Lama3	T	A	18: 12,664,936 (GRCm39)	S646T	probably benign	Het
Lig3	T	A	11: 82,688,138 (GRCm39)	M709K	probably benign	Het
Mindy3	C	A	2: 12,405,885 (GRCm39)	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,196,057 (GRCm39)	E569G	possibly damaging	Het
Misp	T	A	10: 79,662,999 (GRCm39)	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,443,330 (GRCm39)	T303S	probably damaging	Het
Msh3	T	G	13: 92,411,308 (GRCm39)	I630L	probably benign	Het
Muc21	C	A	17: 35,932,432 (GRCm39)	A585S	unknown	Het
Myo16	A	G	8: 10,619,673 (GRCm39)	Y1408C	unknown	Het
N4bp2	T	C	5: 65,964,189 (GRCm39)	V746A	probably benign	Het
Oga	G	A	19: 45,771,605 (GRCm39)		probably benign	Het
Or4c120	A	G	2: 89,000,827 (GRCm39)	I243T	possibly damaging	Het
Or4d11	A	G	19: 12,013,752 (GRCm39)	M118T	probably damaging	Het
Or5p56	A	G	7: 107,589,805 (GRCm39)	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,573,715 (GRCm39)	M44I	probably null	Het
Pik3c2b	T	G	1: 133,033,712 (GRCm39)	L1572R	probably damaging	Het
Pilra	T	C	5: 137,829,488 (GRCm39)	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,437,027 (GRCm39)	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,113,429 (GRCm39)	D619G	probably benign	Het
Pramel31	C	T	4: 144,090,297 (GRCm39)	R446C	probably benign	Het
Ptprb	T	A	10: 116,174,718 (GRCm39)	Y797N	probably damaging	Het
Rb1	T	C	14: 73,500,084 (GRCm39)	D521G	probably damaging	Het
Rnf17	T	G	14: 56,708,763 (GRCm39)	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,218,787 (GRCm39)	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,244,693 (GRCm39)	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,701,201 (GRCm39)	V634A	probably benign	Het
Spam1	A	G	6: 24,800,583 (GRCm39)	M441V	probably benign	Het
Teddm3	A	C	16: 20,971,729 (GRCm39)	L280*	probably null	Het
Tmem231	T	C	8: 112,645,517 (GRCm39)		probably null	Het
Tom1l1	T	C	11: 90,561,907 (GRCm39)		probably null	Het
Topors	C	T	4: 40,261,706 (GRCm39)	G526D	probably benign	Het
Ttc16	T	A	2: 32,664,440 (GRCm39)	M66L	probably benign	Het
Tubgcp6	A	G	15: 88,985,232 (GRCm39)	F1619L	probably damaging	Het
Vps13d	G	T	4: 144,842,062 (GRCm39)	A2619E		Het
Vps8	G	A	16: 21,345,191 (GRCm39)	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,799 (GRCm39)	M86L	probably benign	Het
Zfp64	A	T	2: 168,768,357 (GRCm39)	D418E	probably benign	Het
Zfp952	C	T	17: 33,222,606 (GRCm39)	P362S	possibly damaging	Het
Zglp1	T	C	9: 20,977,368 (GRCm39)	E149G	probably benign	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
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
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'- TTTCCTTTGCAATAGGAGAAGCC -3'
(R):5'- GGCAGAATGCTTGAATAAAATACAC -3'

Sequencing Primer
(F):5'- GGAGAAGCCTGAGGACTCTC -3'
(R):5'- GTGAAGAGAGAAGACCTACT -3'

Posted On

2019-05-15