Mutagenetix > Incidental Mutation

Incidental Mutation 'R6105:Trpm6'

485490

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

044255-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6105 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18749983-18892510 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 18853748 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1326 (R1326*)

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

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

AlphaFold

Q8CIR4

Predicted Effect

probably null
Transcript: ENSMUST00000040489
AA Change: R1326*

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: R1326*

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,397,812 (GRCm38)	M3555T	probably damaging	Het
Adam9	A	T	8: 24,970,759 (GRCm38)	C570S	probably damaging	Het
Adh6b	T	A	3: 138,357,710 (GRCm38)	I350K	possibly damaging	Het
Ahnak	G	A	19: 9,004,099 (GRCm38)	V916I	probably benign	Het
Aldh4a1	C	T	4: 139,638,495 (GRCm38)	P266S	possibly damaging	Het
Cnot7	C	T	8: 40,510,037 (GRCm38)	R32Q	probably benign	Het
Cyb5a	G	A	18: 84,871,593 (GRCm38)	R49Q	possibly damaging	Het
Fbxo6	A	T	4: 148,149,522 (GRCm38)	I39N	probably damaging	Het
Glul	T	A	1: 153,906,431 (GRCm38)	Y137*	probably null	Het
Ipo8	A	G	6: 148,798,670 (GRCm38)	Y570H	probably damaging	Het
Kif2b	A	G	11: 91,575,988 (GRCm38)	S490P	probably benign	Het
Kxd1	A	T	8: 70,519,939 (GRCm38)	N33K	probably benign	Het
Man2a2	T	C	7: 80,367,001 (GRCm38)	D355G	probably damaging	Het
Map6	T	C	7: 99,268,107 (GRCm38)	V29A	probably damaging	Het
Mtmr3	T	C	11: 4,485,432 (GRCm38)	D1116G	probably damaging	Het
Olfr1198	T	A	2: 88,746,840 (GRCm38)	H16L	probably benign	Het
Olfr917	A	G	9: 38,665,620 (GRCm38)	S75P	probably damaging	Het
Olfr926	T	C	9: 38,877,308 (GRCm38)	L44P	possibly damaging	Het
Pak1ip1	T	A	13: 41,004,885 (GRCm38)	L78Q	probably damaging	Het
Phf10	C	T	17: 14,954,125 (GRCm38)		probably null	Het
Pikfyve	A	G	1: 65,264,345 (GRCm38)		probably null	Het
Pkd1l3	A	G	8: 109,640,846 (GRCm38)	D1225G	probably damaging	Het
Postn	A	G	3: 54,372,220 (GRCm38)		probably null	Het
Slc22a30	T	C	19: 8,337,868 (GRCm38)		probably null	Het
Specc1l	T	C	10: 75,248,632 (GRCm38)	S730P	probably damaging	Het
Steap2	T	A	5: 5,675,891 (GRCm38)	I378F	possibly damaging	Het
Sult4a1	T	A	15: 84,086,620 (GRCm38)	K195*	probably null	Het
Tgfb1i1	T	A	7: 128,248,417 (GRCm38)		probably null	Het
Thbs4	G	T	13: 92,775,485 (GRCm38)	Q246K	possibly damaging	Het
Tnfsf10	A	G	3: 27,335,549 (GRCm38)	Y253C	probably damaging	Het
Tnpo3	G	T	6: 29,588,043 (GRCm38)	C125*	probably null	Het
Trappc8	A	G	18: 20,846,447 (GRCm38)		probably null	Het
Vmn2r19	A	C	6: 123,316,095 (GRCm38)	E365D	possibly damaging	Het
Vps18	A	G	2: 119,289,062 (GRCm38)	Y8C	probably damaging	Het
Zc3hav1l	A	G	6: 38,293,077 (GRCm38)	V279A	probably benign	Het
Zfp111	T	C	7: 24,203,366 (GRCm38)		probably null	Het
Zfp618	A	T	4: 63,133,241 (GRCm38)	Q753L	probably benign	Het
Zkscan17	A	T	11: 59,503,575 (GRCm38)	C67S	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
R3719:Trpm6	UTSW	19	18,772,393 (GRCm38)	nonsense	probably null
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
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'- GACCAATGTCATCTGTGCAAAG -3'
(R):5'- CAAGTGGGTGGTGAGATCAC -3'

Sequencing Primer
(F):5'- CTGTGCAAAGGTTCTAAGTGAC -3'
(R):5'- TGGTGTATATGCTCCAATACCAGACC -3'

Posted On

2017-08-16