Mutagenetix > Incidental Mutation

Incidental Mutation 'R7992:Trpm6'

651840

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

046033-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18749983-18892510 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18815350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 713 (C713R)

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

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

AlphaFold

Q8CIR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000040489
AA Change: C713R

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

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: C713R

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: 99.5%
20x: 98.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,310,818 (GRCm38)	T1054A	probably benign	Het
Ankfn1	A	C	11: 89,523,033 (GRCm38)	I172S	probably benign	Het
Ano3	T	C	2: 110,775,022 (GRCm38)	T280A	possibly damaging	Het
Arhgef37	T	A	18: 61,505,756 (GRCm38)	E307D	probably benign	Het
Bptf	C	T	11: 107,110,883 (GRCm38)	V468I	probably benign	Het
Ces1b	A	G	8: 93,060,359 (GRCm38)	V464A	probably benign	Het
Cmc2	A	T	8: 116,889,707 (GRCm38)	L93*	probably null	Het
Ddx60	A	G	8: 61,954,535 (GRCm38)	D360G	probably benign	Het
Dock6	C	T	9: 21,832,839 (GRCm38)		probably null	Het
Erp44	A	G	4: 48,218,136 (GRCm38)	F178L	possibly damaging	Het
Fam47e	T	C	5: 92,574,682 (GRCm38)	V79A	probably damaging	Het
Fancd2	T	C	6: 113,565,204 (GRCm38)	S770P	probably damaging	Het
Fcgr1	A	G	3: 96,284,581 (GRCm38)	F304L	probably benign	Het
Fkbp15	T	C	4: 62,312,301 (GRCm38)	E725G	probably damaging	Het
Fn1	T	C	1: 71,599,666 (GRCm38)	I1971V	probably benign	Het
Gdf6	A	G	4: 9,844,652 (GRCm38)	S59G	probably benign	Het
Gm5773	T	A	3: 93,773,066 (GRCm38)	I15N	possibly damaging	Het
Hesx1	T	C	14: 27,001,422 (GRCm38)	S70P	probably benign	Het
Htr5a	T	C	5: 27,850,997 (GRCm38)	S329P	probably damaging	Het
Htt	T	C	5: 34,829,881 (GRCm38)		probably null	Het
Iba57	T	A	11: 59,161,462 (GRCm38)	M118L	unknown	Het
Ifi35	C	T	11: 101,457,481 (GRCm38)	Q112*	probably null	Het
Il12rb1	G	T	8: 70,812,589 (GRCm38)	R183L	possibly damaging	Het
Il12rb2	A	T	6: 67,351,327 (GRCm38)	Y306*	probably null	Het
Ints1	C	G	5: 139,756,527 (GRCm38)	D1722H	probably damaging	Het
Ipp	T	G	4: 116,524,256 (GRCm38)	D317E	probably damaging	Het
Kif26a	A	G	12: 112,176,047 (GRCm38)	T912A	probably benign	Het
Klhdc7a	A	G	4: 139,965,734 (GRCm38)	V634A	probably damaging	Het
Klhl40	C	A	9: 121,778,682 (GRCm38)	P303T	probably damaging	Het
Krt13	T	C	11: 100,117,652 (GRCm38)	T420A	unknown	Het
Lpcat2	T	C	8: 92,855,558 (GRCm38)	F35S	probably damaging	Het
Macf1	A	G	4: 123,395,960 (GRCm38)	V5470A	probably damaging	Het
Mta2	T	C	19: 8,947,787 (GRCm38)		probably null	Het
Muc16	G	T	9: 18,656,429 (GRCm38)	T1598K	unknown	Het
Nckap5	A	T	1: 126,026,810 (GRCm38)	N668K	probably damaging	Het
Nlrp4a	A	T	7: 26,450,645 (GRCm38)	D559V	possibly damaging	Het
Npat	T	C	9: 53,562,867 (GRCm38)	L653P	probably benign	Het
Oog1	G	A	12: 87,608,482 (GRCm38)	V467I	possibly damaging	Het
Or4c15b	A	G	2: 89,282,738 (GRCm38)	S132P	probably benign	Het
Or4f56	C	T	2: 111,872,935 (GRCm38)	A307T	probably benign	Het
Pdzph1	T	A	17: 58,879,110 (GRCm38)	M1229L	possibly damaging	Het
Piwil4	T	A	9: 14,703,149 (GRCm38)	Q106L		Het
Plekha5	C	A	6: 140,526,541 (GRCm38)	R65S	probably damaging	Het
Ptger4	T	C	15: 5,234,900 (GRCm38)	Y425C	probably damaging	Het
Pus7	A	G	5: 23,746,467 (GRCm38)	M534T	possibly damaging	Het
Rtkn2	C	T	10: 68,040,093 (GRCm38)	P411S	probably damaging	Het
Scand1	G	A	2: 156,312,312 (GRCm38)	P13S	unknown	Het
Scaper	T	C	9: 55,858,154 (GRCm38)	H550R	probably benign	Het
Senp5	T	A	16: 31,977,696 (GRCm38)	K617I	probably damaging	Het
Shq1	A	G	6: 100,637,011 (GRCm38)	L282P	probably damaging	Het
Slc12a6	T	A	2: 112,335,911 (GRCm38)	C227S	probably damaging	Het
Slc5a9	T	A	4: 111,890,532 (GRCm38)	T284S	probably benign	Het
Stat2	T	A	10: 128,284,962 (GRCm38)	F579L	probably damaging	Het
Tes	G	T	6: 17,096,243 (GRCm38)	A77S	possibly damaging	Het
Themis	A	T	10: 28,761,346 (GRCm38)	T149S	probably benign	Het
Tmprss6	C	T	15: 78,442,464 (GRCm38)	R653H	probably benign	Het
Trmt6	G	A	2: 132,811,039 (GRCm38)	L107F	probably damaging	Het
Trpm7	T	C	2: 126,825,534 (GRCm38)	I820V	probably benign	Het
Usp45	G	A	4: 21,824,543 (GRCm38)	A432T	probably benign	Het
Xab2	A	T	8: 3,618,622 (GRCm38)	V82E	possibly damaging	Het
Zfp938	T	A	10: 82,225,943 (GRCm38)	Y281F	possibly 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
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
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'- TGCCGTCGTCAATCTCTGAAG -3'
(R):5'- AAACTACTGCTTGCCAGAGG -3'

Sequencing Primer
(F):5'- CGCCCTGGATGTATTAGAG -3'
(R):5'- AGGCACCCAGCTGGAAACTG -3'

Posted On

2020-09-15