Mutagenetix > Incidental Mutation

Incidental Mutation 'R3719:Trpm6'

258835

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

042001-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18749983-18892510 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 18772393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 29 (R29*)

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

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

AlphaFold

Q8CIR4

Predicted Effect

probably null
Transcript: ENSMUST00000040489
AA Change: R29*

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: R29*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157976

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

97% (35/36)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	G	A	15: 94,361,838 (GRCm38)	R327C	probably damaging	Het
Atxn2l	G	A	7: 126,498,130 (GRCm38)	R335W	probably damaging	Het
Blk	A	G	14: 63,384,002 (GRCm38)	S93P	probably damaging	Het
Cdk11b	A	G	4: 155,626,886 (GRCm38)	D75G	probably damaging	Het
Chpf2	C	T	5: 24,590,312 (GRCm38)	Q278*	probably null	Het
Cypt14	C	T	X: 39,863,251 (GRCm38)	G52E	probably damaging	Het
Defb18	A	G	1: 18,236,589 (GRCm38)	S48P	possibly damaging	Het
Dync2h1	A	G	9: 7,006,882 (GRCm38)		probably benign	Het
Ero1lb	T	G	13: 12,583,612 (GRCm38)		probably null	Het
Gcn1l1	T	C	5: 115,579,817 (GRCm38)	S254P	probably benign	Het
Hivep1	T	C	13: 42,157,727 (GRCm38)	S1148P	probably benign	Het
Kdm3b	C	T	18: 34,808,671 (GRCm38)	A405V	probably damaging	Het
Mcm7	G	A	5: 138,166,714 (GRCm38)	Q550*	probably null	Het
Olfr1154	G	A	2: 87,903,103 (GRCm38)	T191I	probably benign	Het
Pcdh7	A	G	5: 58,129,032 (GRCm38)	E1150G	probably damaging	Het
Pcdhac2	A	G	18: 37,146,235 (GRCm38)	Y756C	possibly damaging	Het
Pclo	A	G	5: 14,521,161 (GRCm38)	T187A	probably benign	Het
Rbms3	C	T	9: 116,582,862 (GRCm38)	V421I	probably benign	Het
Selenbp2	T	C	3: 94,699,617 (GRCm38)	F190S	probably damaging	Het
Sema6a	G	A	18: 47,249,077 (GRCm38)	T801M	probably damaging	Het
Slc16a10	G	C	10: 40,056,624 (GRCm38)	H314D	possibly damaging	Het
Spen	G	T	4: 141,517,183 (GRCm38)	H180Q	unknown	Het
Tenm4	A	G	7: 96,863,563 (GRCm38)	K1339R	possibly damaging	Het
Trim30a	C	A	7: 104,411,163 (GRCm38)	D469Y	probably benign	Het
Trpm3	G	A	19: 22,986,990 (GRCm38)	R1283H	possibly damaging	Het
Ttc17	A	G	2: 94,364,327 (GRCm38)	V567A	probably benign	Het
Vmn2r101	A	G	17: 19,589,549 (GRCm38)	Y199C	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,374 (GRCm38)	Y459N	probably damaging	Het
Vmn2r79	A	G	7: 87,002,037 (GRCm38)	I215V	probably benign	Het
Wdr48	C	T	9: 119,907,131 (GRCm38)	S162F	probably damaging	Het

Other mutations in Trpm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Trpm6	APN	19	18,783,908 (GRCm38)	splice site	probably benign
IGL00862:Trpm6	APN	19	18,827,528 (GRCm38)	missense	probably damaging	1.00
IGL01348:Trpm6	APN	19	18,877,651 (GRCm38)	missense	probably damaging	1.00
IGL01400:Trpm6	APN	19	18,825,794 (GRCm38)	nonsense	probably null
IGL01451:Trpm6	APN	19	18,809,569 (GRCm38)	missense	probably damaging	1.00
IGL01508:Trpm6	APN	19	18,796,530 (GRCm38)	nonsense	probably null
IGL01995:Trpm6	APN	19	18,830,327 (GRCm38)	splice site	probably benign
IGL02092:Trpm6	APN	19	18,772,331 (GRCm38)	missense	possibly damaging	0.59
IGL02152:Trpm6	APN	19	18,832,539 (GRCm38)	missense	possibly damaging	0.93
IGL02294:Trpm6	APN	19	18,854,063 (GRCm38)	missense	probably benign
IGL02329:Trpm6	APN	19	18,854,217 (GRCm38)	missense	probably benign	0.17
IGL02366:Trpm6	APN	19	18,778,510 (GRCm38)	splice site	probably benign
IGL02402:Trpm6	APN	19	18,786,756 (GRCm38)	missense	probably benign	0.18
IGL02457:Trpm6	APN	19	18,827,398 (GRCm38)	nonsense	probably null
IGL02457:Trpm6	APN	19	18,825,791 (GRCm38)	missense	probably damaging	1.00
IGL02684:Trpm6	APN	19	18,802,207 (GRCm38)	splice site	probably benign
IGL02705:Trpm6	APN	19	18,776,733 (GRCm38)	critical splice donor site	probably null
IGL02728:Trpm6	APN	19	18,809,652 (GRCm38)	missense	possibly damaging	0.71
IGL02742:Trpm6	APN	19	18,830,012 (GRCm38)	splice site	probably benign
IGL02818:Trpm6	APN	19	18,866,257 (GRCm38)	missense	probably benign	0.04
IGL02836:Trpm6	APN	19	18,813,482 (GRCm38)	missense	probably damaging	1.00
IGL03119:Trpm6	APN	19	18,838,017 (GRCm38)	nonsense	probably null
IGL03193:Trpm6	APN	19	18,825,872 (GRCm38)	missense	possibly damaging	0.94
IGL03227:Trpm6	APN	19	18,786,779 (GRCm38)	missense	probably benign	0.12
IGL03227:Trpm6	APN	19	18,819,119 (GRCm38)	missense	probably benign	0.01
IGL03231:Trpm6	APN	19	18,819,181 (GRCm38)	missense	probably benign
IGL03245:Trpm6	APN	19	18,877,701 (GRCm38)	missense	probably damaging	1.00
IGL03328:Trpm6	APN	19	18,838,082 (GRCm38)	missense	possibly damaging	0.94
IGL03341:Trpm6	APN	19	18,813,486 (GRCm38)	missense	probably benign
P0043:Trpm6	UTSW	19	18,877,765 (GRCm38)	missense	probably damaging	1.00
PIT4260001:Trpm6	UTSW	19	18,825,802 (GRCm38)	missense	possibly damaging	0.48
R0057:Trpm6	UTSW	19	18,786,755 (GRCm38)	missense	probably benign	0.05
R0115:Trpm6	UTSW	19	18,829,952 (GRCm38)	missense	probably damaging	0.98
R0119:Trpm6	UTSW	19	18,832,593 (GRCm38)	missense	probably benign	0.05
R0140:Trpm6	UTSW	19	18,819,194 (GRCm38)	splice site	probably null
R0267:Trpm6	UTSW	19	18,823,378 (GRCm38)	missense	probably benign
R0350:Trpm6	UTSW	19	18,883,957 (GRCm38)	splice site	probably null
R0373:Trpm6	UTSW	19	18,853,587 (GRCm38)	missense	probably benign	0.15
R0393:Trpm6	UTSW	19	18,778,644 (GRCm38)	missense	probably damaging	0.99
R0416:Trpm6	UTSW	19	18,783,025 (GRCm38)	splice site	probably benign
R0505:Trpm6	UTSW	19	18,873,902 (GRCm38)	splice site	probably benign
R0526:Trpm6	UTSW	19	18,792,876 (GRCm38)	missense	probably damaging	0.97
R0607:Trpm6	UTSW	19	18,872,221 (GRCm38)	missense	probably benign	0.00
R0609:Trpm6	UTSW	19	18,825,862 (GRCm38)	missense	probably damaging	0.97
R0714:Trpm6	UTSW	19	18,838,087 (GRCm38)	missense	possibly damaging	0.90
R1215:Trpm6	UTSW	19	18,796,498 (GRCm38)	missense	probably damaging	1.00
R1474:Trpm6	UTSW	19	18,796,495 (GRCm38)	missense	probably benign	0.28
R1512:Trpm6	UTSW	19	18,875,931 (GRCm38)	missense	probably benign
R1558:Trpm6	UTSW	19	18,786,828 (GRCm38)	missense	probably benign	0.04
R1597:Trpm6	UTSW	19	18,827,524 (GRCm38)	missense	probably damaging	0.98
R1618:Trpm6	UTSW	19	18,877,631 (GRCm38)	missense	possibly damaging	0.88
R1779:Trpm6	UTSW	19	18,856,217 (GRCm38)	missense	probably damaging	1.00
R1796:Trpm6	UTSW	19	18,827,567 (GRCm38)	missense	possibly damaging	0.90
R1799:Trpm6	UTSW	19	18,891,999 (GRCm38)	splice site	probably null
R1840:Trpm6	UTSW	19	18,866,267 (GRCm38)	missense	probably benign	0.21
R1991:Trpm6	UTSW	19	18,796,284 (GRCm38)	missense	probably benign	0.00
R2030:Trpm6	UTSW	19	18,854,265 (GRCm38)	missense	probably benign
R2073:Trpm6	UTSW	19	18,876,042 (GRCm38)	missense	probably damaging	1.00
R2074:Trpm6	UTSW	19	18,877,739 (GRCm38)	missense	probably damaging	1.00
R2096:Trpm6	UTSW	19	18,825,752 (GRCm38)	missense	probably damaging	0.97
R2103:Trpm6	UTSW	19	18,796,284 (GRCm38)	missense	probably benign	0.00
R2106:Trpm6	UTSW	19	18,813,350 (GRCm38)	missense	possibly damaging	0.95
R2117:Trpm6	UTSW	19	18,829,952 (GRCm38)	missense	probably damaging	0.98
R2850:Trpm6	UTSW	19	18,792,090 (GRCm38)	missense	possibly damaging	0.68
R3125:Trpm6	UTSW	19	18,854,431 (GRCm38)	missense	probably benign	0.05
R3779:Trpm6	UTSW	19	18,876,039 (GRCm38)	missense	possibly damaging	0.80
R4115:Trpm6	UTSW	19	18,832,557 (GRCm38)	missense	probably damaging	1.00
R4367:Trpm6	UTSW	19	18,827,525 (GRCm38)	missense	probably damaging	0.99
R4523:Trpm6	UTSW	19	18,796,500 (GRCm38)	missense	probably damaging	1.00
R4546:Trpm6	UTSW	19	18,832,477 (GRCm38)	missense	probably damaging	1.00
R4564:Trpm6	UTSW	19	18,832,597 (GRCm38)	missense	possibly damaging	0.95
R4565:Trpm6	UTSW	19	18,825,872 (GRCm38)	missense	probably damaging	1.00
R4697:Trpm6	UTSW	19	18,853,791 (GRCm38)	missense	probably benign	0.01
R4714:Trpm6	UTSW	19	18,854,200 (GRCm38)	missense	possibly damaging	0.93
R4750:Trpm6	UTSW	19	18,876,064 (GRCm38)	missense	probably damaging	0.99
R4771:Trpm6	UTSW	19	18,813,493 (GRCm38)	missense	probably damaging	0.97
R4791:Trpm6	UTSW	19	18,867,981 (GRCm38)	missense	probably benign	0.00
R4814:Trpm6	UTSW	19	18,862,212 (GRCm38)	missense	probably benign	0.11
R5028:Trpm6	UTSW	19	18,786,760 (GRCm38)	missense	probably damaging	1.00
R5237:Trpm6	UTSW	19	18,813,464 (GRCm38)	missense	probably damaging	1.00
R5615:Trpm6	UTSW	19	18,829,933 (GRCm38)	missense	probably damaging	0.96
R5642:Trpm6	UTSW	19	18,830,207 (GRCm38)	missense	probably damaging	1.00
R5645:Trpm6	UTSW	19	18,853,604 (GRCm38)	missense	probably damaging	1.00
R5726:Trpm6	UTSW	19	18,853,617 (GRCm38)	missense	probably damaging	1.00
R5832:Trpm6	UTSW	19	18,786,819 (GRCm38)	missense	possibly damaging	0.66
R5843:Trpm6	UTSW	19	18,856,175 (GRCm38)	missense	probably benign	0.04
R5955:Trpm6	UTSW	19	18,892,019 (GRCm38)	missense	possibly damaging	0.75
R6101:Trpm6	UTSW	19	18,853,748 (GRCm38)	nonsense	probably null
R6105:Trpm6	UTSW	19	18,853,748 (GRCm38)	nonsense	probably null
R6211:Trpm6	UTSW	19	18,783,128 (GRCm38)	missense	probably damaging	1.00
R6228:Trpm6	UTSW	19	18,854,291 (GRCm38)	missense	probably damaging	1.00
R6263:Trpm6	UTSW	19	18,854,108 (GRCm38)	missense	possibly damaging	0.94
R6453:Trpm6	UTSW	19	18,829,990 (GRCm38)	missense	probably damaging	1.00
R6562:Trpm6	UTSW	19	18,838,042 (GRCm38)	missense	probably damaging	1.00
R6624:Trpm6	UTSW	19	18,889,020 (GRCm38)	missense	probably damaging	1.00
R6624:Trpm6	UTSW	19	18,796,439 (GRCm38)	critical splice acceptor site	probably null
R6729:Trpm6	UTSW	19	18,830,297 (GRCm38)	missense	probably damaging	1.00
R6765:Trpm6	UTSW	19	18,877,765 (GRCm38)	missense	probably damaging	1.00
R6976:Trpm6	UTSW	19	18,783,163 (GRCm38)	missense	probably benign
R7103:Trpm6	UTSW	19	18,813,547 (GRCm38)	missense	possibly damaging	0.87
R7126:Trpm6	UTSW	19	18,854,033 (GRCm38)	nonsense	probably null
R7128:Trpm6	UTSW	19	18,811,773 (GRCm38)	missense	possibly damaging	0.92
R7157:Trpm6	UTSW	19	18,838,098 (GRCm38)	missense	possibly damaging	0.91
R7212:Trpm6	UTSW	19	18,853,791 (GRCm38)	missense	probably benign	0.01
R7263:Trpm6	UTSW	19	18,876,786 (GRCm38)	missense	probably damaging	1.00
R7268:Trpm6	UTSW	19	18,778,585 (GRCm38)	missense	probably benign	0.13
R7305:Trpm6	UTSW	19	18,876,091 (GRCm38)	missense	probably benign	0.30
R7498:Trpm6	UTSW	19	18,876,120 (GRCm38)	missense	probably damaging	1.00
R7558:Trpm6	UTSW	19	18,778,665 (GRCm38)	missense	probably damaging	0.96
R7590:Trpm6	UTSW	19	18,832,581 (GRCm38)	missense	probably benign	0.31
R7646:Trpm6	UTSW	19	18,867,961 (GRCm38)	missense	probably benign	0.10
R7650:Trpm6	UTSW	19	18,876,013 (GRCm38)	missense	possibly damaging	0.70
R7727:Trpm6	UTSW	19	18,854,249 (GRCm38)	missense	probably damaging	0.97
R7743:Trpm6	UTSW	19	18,827,408 (GRCm38)	missense	probably benign	0.03
R7747:Trpm6	UTSW	19	18,750,045 (GRCm38)	splice site	probably null
R7807:Trpm6	UTSW	19	18,829,856 (GRCm38)	missense	probably benign	0.11
R7870:Trpm6	UTSW	19	18,815,241 (GRCm38)	missense	probably benign	0.01
R7891:Trpm6	UTSW	19	18,776,710 (GRCm38)	missense	probably benign	0.01
R7955:Trpm6	UTSW	19	18,854,290 (GRCm38)	missense	probably benign	0.01
R7965:Trpm6	UTSW	19	18,876,110 (GRCm38)	missense	probably damaging	1.00
R7967:Trpm6	UTSW	19	18,778,659 (GRCm38)	missense	probably damaging	0.99
R7992:Trpm6	UTSW	19	18,815,350 (GRCm38)	missense	probably damaging	1.00
R8035:Trpm6	UTSW	19	18,792,862 (GRCm38)	missense	probably damaging	0.97
R8108:Trpm6	UTSW	19	18,811,790 (GRCm38)	missense	probably damaging	1.00
R8268:Trpm6	UTSW	19	18,873,861 (GRCm38)	missense	possibly damaging	0.85
R8411:Trpm6	UTSW	19	18,853,968 (GRCm38)	missense	probably benign	0.39
R8413:Trpm6	UTSW	19	18,832,485 (GRCm38)	missense	probably benign	0.00
R8534:Trpm6	UTSW	19	18,892,095 (GRCm38)	missense	probably benign	0.00
R8932:Trpm6	UTSW	19	18,838,002 (GRCm38)	missense	possibly damaging	0.87
R8990:Trpm6	UTSW	19	18,815,435 (GRCm38)	missense	probably damaging	1.00
R9403:Trpm6	UTSW	19	18,832,652 (GRCm38)	missense	possibly damaging	0.84
R9446:Trpm6	UTSW	19	18,838,098 (GRCm38)	missense	possibly damaging	0.91
R9463:Trpm6	UTSW	19	18,783,900 (GRCm38)	critical splice donor site	probably null
R9485:Trpm6	UTSW	19	18,778,614 (GRCm38)	missense	probably benign	0.06
R9536:Trpm6	UTSW	19	18,786,759 (GRCm38)	missense	probably damaging	1.00
R9549:Trpm6	UTSW	19	18,876,030 (GRCm38)	nonsense	probably null
R9564:Trpm6	UTSW	19	18,873,876 (GRCm38)	missense	possibly damaging	0.92
R9626:Trpm6	UTSW	19	18,813,482 (GRCm38)	missense	probably damaging	1.00
R9655:Trpm6	UTSW	19	18,892,102 (GRCm38)	missense	probably benign
R9721:Trpm6	UTSW	19	18,829,972 (GRCm38)	missense	probably benign	0.12
R9742:Trpm6	UTSW	19	18,823,402 (GRCm38)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TCGTGATACTTATGCAAATCCTTCC -3'
(R):5'- AGGAACATATTGGTGATAGGTACTG -3'

Sequencing Primer
(F):5'- TGCAAATCCTTCCTACCTAAATTATC -3'
(R):5'- AGCTGTTGCGAGGTAACTGAC -3'

Posted On

2015-01-23