Mutagenetix > Incidental Mutation

Incidental Mutation 'R5832:Trpm6'

449389

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

044054-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5832 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18749983-18892510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18786819 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 263 (H263R)

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

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

AlphaFold

Q8CIR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040489
AA Change: H263R

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: H263R

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: 99.7%
10x: 98.8%
20x: 96.7%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
Adgrv1	G	A	13: 81,103,302 (GRCm38)	S6232F	possibly damaging	Het
Alox12	T	C	11: 70,253,280 (GRCm38)	E129G	probably damaging	Het
Anxa13	C	A	15: 58,341,993 (GRCm38)		noncoding transcript	Het
Arfgef3	C	T	10: 18,630,420 (GRCm38)	G878D	probably damaging	Het
Asnsd1	T	C	1: 53,347,475 (GRCm38)	D331G	probably damaging	Het
Crisp1	A	G	17: 40,301,317 (GRCm38)		probably null	Het
Eml5	T	C	12: 98,876,188 (GRCm38)	N217S	probably benign	Het
Fat1	A	T	8: 45,017,423 (GRCm38)	Y1463F	possibly damaging	Het
Fhod3	T	C	18: 25,090,695 (GRCm38)	W1033R	probably damaging	Het
Galr2	T	A	11: 116,281,631 (GRCm38)	L49Q	probably damaging	Het
Gstm5	T	C	3: 107,897,537 (GRCm38)	V115A	probably benign	Het
Gtpbp2	C	T	17: 46,167,862 (GRCm38)	T535I	probably damaging	Het
Hk1	T	C	10: 62,292,365 (GRCm38)	E326G	probably benign	Het
Igfn1	A	G	1: 135,974,795 (GRCm38)	V388A	probably damaging	Het
Iqgap2	C	T	13: 95,675,372 (GRCm38)	R707H	probably damaging	Het
Kitl	C	A	10: 100,080,020 (GRCm38)	P137H	probably damaging	Het
Lamp3	A	T	16: 19,701,320 (GRCm38)	Y38N	probably damaging	Het
Lmo7	A	T	14: 101,884,213 (GRCm38)	N5I	probably damaging	Het
Mc3r	T	A	2: 172,249,430 (GRCm38)	C191S	probably benign	Het
Mep1a	G	A	17: 43,478,164 (GRCm38)	H574Y	probably benign	Het
Mybpc3	A	G	2: 91,119,175 (GRCm38)		probably null	Het
Nav2	A	T	7: 49,548,069 (GRCm38)		probably null	Het
Patz1	C	T	11: 3,306,277 (GRCm38)	P521L	probably benign	Het
Pramel14	A	G	4: 143,991,962 (GRCm38)	S304P	probably damaging	Het
Prkcd	T	C	14: 30,605,821 (GRCm38)	T103A	probably damaging	Het
Pttg1ip	T	C	10: 77,584,025 (GRCm38)		probably null	Het
Rcbtb2	C	A	14: 73,166,822 (GRCm38)	Q85K	possibly damaging	Het
Rdh16f1	T	A	10: 127,788,749 (GRCm38)	V152E	probably damaging	Het
Rsph4a	A	G	10: 33,909,502 (GRCm38)	I470V	probably benign	Het
Sarnp	T	C	10: 128,848,312 (GRCm38)		probably null	Het
Slc39a6	C	A	18: 24,601,612 (GRCm38)	V7L	possibly damaging	Het
Slco1a4	A	G	6: 141,819,544 (GRCm38)	I324T	probably benign	Het
Spata31d1a	A	T	13: 59,701,566 (GRCm38)	V916E	probably damaging	Het
Srgap1	T	G	10: 121,840,914 (GRCm38)	T392P	probably damaging	Het
Tbc1d20	A	T	2: 152,311,362 (GRCm38)	M271L	possibly damaging	Het
Tbc1d22b	T	C	17: 29,570,647 (GRCm38)	I161T	possibly damaging	Het
Tcof1	G	T	18: 60,819,539 (GRCm38)	N918K	unknown	Het
Tnr	A	G	1: 159,886,122 (GRCm38)	T707A	probably benign	Het
Trim66	A	G	7: 109,455,202 (GRCm38)	F1267S	probably damaging	Het
Tshz2	T	A	2: 169,884,045 (GRCm38)	V187D	possibly damaging	Het
Ube2f	T	G	1: 91,285,324 (GRCm38)	V176G	possibly damaging	Het
Vmn2r109	C	T	17: 20,541,056 (GRCm38)	A680T	probably benign	Het
Vmn2r77	T	A	7: 86,811,462 (GRCm38)	C665*	probably null	Het
Zfp954	A	G	7: 7,115,390 (GRCm38)	V385A	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
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'- GAAGACTTTGAGCTCTGACGC -3'
(R):5'- GCTATCATCACCAACAATCTGTATC -3'

Sequencing Primer
(F):5'- GAGCTCTGACGCCCTCTTG -3'
(R):5'- ACAATCTGTATCAACATATATCCTGC -3'

Posted On

2016-12-20