Mutagenetix > Incidental Mutation

Incidental Mutation 'R1799:Trpm6'

202994

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

039829-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1799 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18749983-18892510 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 18891999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

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

AlphaFold

Q8CIR4

Predicted Effect

probably null
Transcript: ENSMUST00000040489

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,234,576	L271P	probably benign	Het
Adamts3	A	C	5: 89,775,421	D175E	probably benign	Het
Adcy4	T	C	14: 55,771,472	T833A	probably benign	Het
Adgrf5	A	T	17: 43,440,067	I508F	probably damaging	Het
AI481877	A	T	4: 59,099,383	V103D	possibly damaging	Het
Arhgap9	G	T	10: 127,327,724	V464L	probably damaging	Het
Atp10a	T	A	7: 58,824,434	D1156E	probably damaging	Het
Atp2a1	A	T	7: 126,450,142	M576K	probably benign	Het
Atrx	T	C	X: 105,847,629	Q1536R	probably damaging	Het
Ccdc141	A	C	2: 77,011,671	V1472G	possibly damaging	Het
Cd84	A	G	1: 171,872,750	T145A	possibly damaging	Het
Celsr1	G	T	15: 86,032,685	N362K	probably damaging	Het
Cep290	G	A	10: 100,516,196	A755T	probably benign	Het
Cfap70	T	A	14: 20,394,999	E1071V	probably damaging	Het
Cps1	T	C	1: 67,209,642	V1176A	probably damaging	Het
Csf2rb2	A	C	15: 78,297,068	N41K	probably damaging	Het
Csn1s2a	G	A	5: 87,778,193	V43M	probably damaging	Het
Cyp26b1	T	C	6: 84,584,272	D136G	probably benign	Het
Cyp7b1	A	G	3: 18,097,452	L199P	probably benign	Het
Dapk1	C	T	13: 60,719,654	T225I	probably damaging	Het
Dio2	T	A	12: 90,729,906	T103S	probably benign	Het
Dnhd1	T	A	7: 105,655,767	S339T	probably benign	Het
Drc1	A	G	5: 30,366,497	N737D	probably damaging	Het
Efhc1	C	T	1: 20,979,538	P541S	probably benign	Het
Elmo2	A	T	2: 165,292,157	I637N	probably damaging	Het
Eps15	T	A	4: 109,382,837	D492E	probably damaging	Het
Ermn	G	T	2: 58,048,237	N121K	probably benign	Het
F5	A	G	1: 164,193,531	T1192A	possibly damaging	Het
Fam69a	C	A	5: 107,909,847	V237F	probably damaging	Het
Fbxo22	T	C	9: 55,223,487	F347L	probably benign	Het
Fbxw15	G	A	9: 109,558,246	S227F	probably damaging	Het
Foxj3	A	G	4: 119,619,351	N242S	probably benign	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Grm4	A	G	17: 27,472,940	V235A	probably damaging	Het
Gstm4	T	C	3: 108,043,558	N74S	probably damaging	Het
Gtf3c3	A	G	1: 54,420,424	V393A	possibly damaging	Het
Hltf	T	A	3: 20,105,691	L702H	probably damaging	Het
Inpp4a	T	A	1: 37,392,978	V153E	possibly damaging	Het
Kmt5c	T	C	7: 4,742,730		probably null	Het
Kynu	A	G	2: 43,604,157	R201G	possibly damaging	Het
Lrp2	T	A	2: 69,503,530	T1456S	probably benign	Het
Lrrc40	G	A	3: 158,036,804	V19I	probably benign	Het
M1ap	T	A	6: 83,005,510	C258*	probably null	Het
Man2a1	C	T	17: 64,669,497	R427W	probably damaging	Het
Man2a1	T	C	17: 64,752,457	L1113P	probably benign	Het
Meikin	C	A	11: 54,417,787	Q404K	probably benign	Het
Mfsd4a	T	C	1: 132,053,596	I222V	possibly damaging	Het
Mpp6	T	A	6: 50,196,545	M463K	probably damaging	Het
N4bp2	A	G	5: 65,806,825	N739S	possibly damaging	Het
Ncoa2	A	T	1: 13,162,293		probably null	Het
Nisch	G	T	14: 31,177,271		probably benign	Het
Nmur2	A	G	11: 56,029,621	V266A	probably damaging	Het
Npcd	G	A	15: 79,828,786	R147C	probably damaging	Het
Olfr209	T	A	16: 59,361,880	I113F	probably benign	Het
Olfr735	T	A	14: 50,346,080	M121L	probably benign	Het
Parp4	A	T	14: 56,648,132	H1556L	unknown	Het
Pcdh9	G	T	14: 93,888,671	A21E	probably benign	Het
Phtf1	A	G	3: 103,996,642	E436G	probably benign	Het
Piezo2	C	A	18: 63,032,840		probably null	Het
Piezo2	T	C	18: 63,108,087	Y690C	probably damaging	Het
Pla2g4f	T	C	2: 120,311,068	R183G	possibly damaging	Het
Plxnd1	T	C	6: 115,994,057	D250G	probably damaging	Het
Ppig	A	G	2: 69,749,400	D426G	unknown	Het
Ppp3cb	T	C	14: 20,524,472	E185G	possibly damaging	Het
Qsox1	A	T	1: 155,794,618	M151K	probably null	Het
Ralgapa2	T	C	2: 146,342,728	E1453G	probably benign	Het
Rnf167	G	A	11: 70,650,012	V191I	probably benign	Het
Rp1	T	C	1: 4,348,832	K686E	possibly damaging	Het
Ryr1	T	G	7: 29,067,621	Q2979P	probably damaging	Het
Scaf1	T	A	7: 45,008,019	I479F	probably damaging	Het
Sept8	A	G	11: 53,534,483	T68A	probably benign	Het
Sh3rf1	A	T	8: 61,372,627	N552I	probably damaging	Het
Slc1a3	A	G	15: 8,688,404	L68P	probably damaging	Het
Slc39a6	G	A	18: 24,585,467	P511L	probably benign	Het
Slc9c1	A	G	16: 45,554,289	Y339C	probably damaging	Het
Smarcal1	G	T	1: 72,585,961	C89F	probably damaging	Het
Smu1	A	T	4: 40,745,537	M261K	probably damaging	Het
Spag8	T	G	4: 43,653,087		probably benign	Het
Spag8	T	C	4: 43,653,345		probably benign	Het
Spata31d1a	T	C	13: 59,703,402	D304G	probably benign	Het
Spdl1	A	T	11: 34,821,029	L298*	probably null	Het
Stac2	C	T	11: 98,039,618		probably null	Het
Stag1	A	G	9: 100,953,462		probably null	Het
Stpg2	C	T	3: 139,419,781	P445L	probably damaging	Het
Sult2a8	A	T	7: 14,423,526	V128E	probably damaging	Het
Synm	A	G	7: 67,735,959	F210L	probably damaging	Het
Tbck	C	G	3: 132,774,502	A714G	probably benign	Het
Tcerg1	A	T	18: 42,560,947	Y711F	possibly damaging	Het
Tnfrsf25	A	G	4: 152,117,008	T98A	probably benign	Het
Togaram2	T	C	17: 71,691,455	S218P	probably damaging	Het
Tpp1	A	T	7: 105,750,308	D84E	probably benign	Het
Trim30d	G	T	7: 104,483,475	Q202K	probably damaging	Het
Trim37	T	A	11: 87,178,019	V397E	probably damaging	Het
Triml1	A	T	8: 43,130,475	I363N	probably damaging	Het
Tsc2	T	C	17: 24,604,408	S1055G	probably benign	Het
Ubr5	T	C	15: 37,989,377	D2065G	probably damaging	Het
Uggt2	G	T	14: 119,032,276	P948Q	probably benign	Het
Vps13c	A	T	9: 67,944,117	S2345C	probably damaging	Het
Wtap	G	T	17: 12,980,884	R48S	possibly damaging	Het
Zbtb38	A	G	9: 96,688,881	V50A	probably damaging	Het
Zcchc2	T	A	1: 106,030,287	S829R	probably benign	Het
Zfp385b	T	C	2: 77,415,972	D237G	probably benign	Het

Other mutations in Trpm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Trpm6	APN	19	18783908	splice site	probably benign
IGL00862:Trpm6	APN	19	18827528	missense	probably damaging	1.00
IGL01348:Trpm6	APN	19	18877651	missense	probably damaging	1.00
IGL01400:Trpm6	APN	19	18825794	nonsense	probably null
IGL01451:Trpm6	APN	19	18809569	missense	probably damaging	1.00
IGL01508:Trpm6	APN	19	18796530	nonsense	probably null
IGL01995:Trpm6	APN	19	18830327	splice site	probably benign
IGL02092:Trpm6	APN	19	18772331	missense	possibly damaging	0.59
IGL02152:Trpm6	APN	19	18832539	missense	possibly damaging	0.93
IGL02294:Trpm6	APN	19	18854063	missense	probably benign
IGL02329:Trpm6	APN	19	18854217	missense	probably benign	0.17
IGL02366:Trpm6	APN	19	18778510	splice site	probably benign
IGL02402:Trpm6	APN	19	18786756	missense	probably benign	0.18
IGL02457:Trpm6	APN	19	18825791	missense	probably damaging	1.00
IGL02457:Trpm6	APN	19	18827398	nonsense	probably null
IGL02684:Trpm6	APN	19	18802207	splice site	probably benign
IGL02705:Trpm6	APN	19	18776733	critical splice donor site	probably null
IGL02728:Trpm6	APN	19	18809652	missense	possibly damaging	0.71
IGL02742:Trpm6	APN	19	18830012	splice site	probably benign
IGL02818:Trpm6	APN	19	18866257	missense	probably benign	0.04
IGL02836:Trpm6	APN	19	18813482	missense	probably damaging	1.00
IGL03119:Trpm6	APN	19	18838017	nonsense	probably null
IGL03193:Trpm6	APN	19	18825872	missense	possibly damaging	0.94
IGL03227:Trpm6	APN	19	18819119	missense	probably benign	0.01
IGL03227:Trpm6	APN	19	18786779	missense	probably benign	0.12
IGL03231:Trpm6	APN	19	18819181	missense	probably benign
IGL03245:Trpm6	APN	19	18877701	missense	probably damaging	1.00
IGL03328:Trpm6	APN	19	18838082	missense	possibly damaging	0.94
IGL03341:Trpm6	APN	19	18813486	missense	probably benign
P0043:Trpm6	UTSW	19	18877765	missense	probably damaging	1.00
PIT4260001:Trpm6	UTSW	19	18825802	missense	possibly damaging	0.48
R0057:Trpm6	UTSW	19	18786755	missense	probably benign	0.05
R0115:Trpm6	UTSW	19	18829952	missense	probably damaging	0.98
R0119:Trpm6	UTSW	19	18832593	missense	probably benign	0.05
R0140:Trpm6	UTSW	19	18819194	splice site	probably null
R0267:Trpm6	UTSW	19	18823378	missense	probably benign
R0350:Trpm6	UTSW	19	18883957	splice site	probably null
R0373:Trpm6	UTSW	19	18853587	missense	probably benign	0.15
R0393:Trpm6	UTSW	19	18778644	missense	probably damaging	0.99
R0416:Trpm6	UTSW	19	18783025	splice site	probably benign
R0505:Trpm6	UTSW	19	18873902	splice site	probably benign
R0526:Trpm6	UTSW	19	18792876	missense	probably damaging	0.97
R0607:Trpm6	UTSW	19	18872221	missense	probably benign	0.00
R0609:Trpm6	UTSW	19	18825862	missense	probably damaging	0.97
R0714:Trpm6	UTSW	19	18838087	missense	possibly damaging	0.90
R1215:Trpm6	UTSW	19	18796498	missense	probably damaging	1.00
R1474:Trpm6	UTSW	19	18796495	missense	probably benign	0.28
R1512:Trpm6	UTSW	19	18875931	missense	probably benign
R1558:Trpm6	UTSW	19	18786828	missense	probably benign	0.04
R1597:Trpm6	UTSW	19	18827524	missense	probably damaging	0.98
R1618:Trpm6	UTSW	19	18877631	missense	possibly damaging	0.88
R1779:Trpm6	UTSW	19	18856217	missense	probably damaging	1.00
R1796:Trpm6	UTSW	19	18827567	missense	possibly damaging	0.90
R1840:Trpm6	UTSW	19	18866267	missense	probably benign	0.21
R1991:Trpm6	UTSW	19	18796284	missense	probably benign	0.00
R2030:Trpm6	UTSW	19	18854265	missense	probably benign
R2073:Trpm6	UTSW	19	18876042	missense	probably damaging	1.00
R2074:Trpm6	UTSW	19	18877739	missense	probably damaging	1.00
R2096:Trpm6	UTSW	19	18825752	missense	probably damaging	0.97
R2103:Trpm6	UTSW	19	18796284	missense	probably benign	0.00
R2106:Trpm6	UTSW	19	18813350	missense	possibly damaging	0.95
R2117:Trpm6	UTSW	19	18829952	missense	probably damaging	0.98
R2850:Trpm6	UTSW	19	18792090	missense	possibly damaging	0.68
R3125:Trpm6	UTSW	19	18854431	missense	probably benign	0.05
R3719:Trpm6	UTSW	19	18772393	nonsense	probably null
R3779:Trpm6	UTSW	19	18876039	missense	possibly damaging	0.80
R4115:Trpm6	UTSW	19	18832557	missense	probably damaging	1.00
R4367:Trpm6	UTSW	19	18827525	missense	probably damaging	0.99
R4523:Trpm6	UTSW	19	18796500	missense	probably damaging	1.00
R4546:Trpm6	UTSW	19	18832477	missense	probably damaging	1.00
R4564:Trpm6	UTSW	19	18832597	missense	possibly damaging	0.95
R4565:Trpm6	UTSW	19	18825872	missense	probably damaging	1.00
R4697:Trpm6	UTSW	19	18853791	missense	probably benign	0.01
R4714:Trpm6	UTSW	19	18854200	missense	possibly damaging	0.93
R4750:Trpm6	UTSW	19	18876064	missense	probably damaging	0.99
R4771:Trpm6	UTSW	19	18813493	missense	probably damaging	0.97
R4791:Trpm6	UTSW	19	18867981	missense	probably benign	0.00
R4814:Trpm6	UTSW	19	18862212	missense	probably benign	0.11
R5028:Trpm6	UTSW	19	18786760	missense	probably damaging	1.00
R5237:Trpm6	UTSW	19	18813464	missense	probably damaging	1.00
R5615:Trpm6	UTSW	19	18829933	missense	probably damaging	0.96
R5642:Trpm6	UTSW	19	18830207	missense	probably damaging	1.00
R5645:Trpm6	UTSW	19	18853604	missense	probably damaging	1.00
R5726:Trpm6	UTSW	19	18853617	missense	probably damaging	1.00
R5832:Trpm6	UTSW	19	18786819	missense	possibly damaging	0.66
R5843:Trpm6	UTSW	19	18856175	missense	probably benign	0.04
R5955:Trpm6	UTSW	19	18892019	missense	possibly damaging	0.75
R6101:Trpm6	UTSW	19	18853748	nonsense	probably null
R6105:Trpm6	UTSW	19	18853748	nonsense	probably null
R6211:Trpm6	UTSW	19	18783128	missense	probably damaging	1.00
R6228:Trpm6	UTSW	19	18854291	missense	probably damaging	1.00
R6263:Trpm6	UTSW	19	18854108	missense	possibly damaging	0.94
R6453:Trpm6	UTSW	19	18829990	missense	probably damaging	1.00
R6562:Trpm6	UTSW	19	18838042	missense	probably damaging	1.00
R6624:Trpm6	UTSW	19	18796439	critical splice acceptor site	probably null
R6624:Trpm6	UTSW	19	18889020	missense	probably damaging	1.00
R6729:Trpm6	UTSW	19	18830297	missense	probably damaging	1.00
R6765:Trpm6	UTSW	19	18877765	missense	probably damaging	1.00
R6976:Trpm6	UTSW	19	18783163	missense	probably benign
R7103:Trpm6	UTSW	19	18813547	missense	possibly damaging	0.87
R7126:Trpm6	UTSW	19	18854033	nonsense	probably null
R7128:Trpm6	UTSW	19	18811773	missense	possibly damaging	0.92
R7157:Trpm6	UTSW	19	18838098	missense	possibly damaging	0.91
R7212:Trpm6	UTSW	19	18853791	missense	probably benign	0.01
R7263:Trpm6	UTSW	19	18876786	missense	probably damaging	1.00
R7268:Trpm6	UTSW	19	18778585	missense	probably benign	0.13
R7305:Trpm6	UTSW	19	18876091	missense	probably benign	0.30
R7498:Trpm6	UTSW	19	18876120	missense	probably damaging	1.00
R7558:Trpm6	UTSW	19	18778665	missense	probably damaging	0.96
R7590:Trpm6	UTSW	19	18832581	missense	probably benign	0.31
R7646:Trpm6	UTSW	19	18867961	missense	probably benign	0.10
R7650:Trpm6	UTSW	19	18876013	missense	possibly damaging	0.70
R7727:Trpm6	UTSW	19	18854249	missense	probably damaging	0.97
R7743:Trpm6	UTSW	19	18827408	missense	probably benign	0.03
R7747:Trpm6	UTSW	19	18750045	splice site	probably null
R7807:Trpm6	UTSW	19	18829856	missense	probably benign	0.11
R7870:Trpm6	UTSW	19	18815241	missense	probably benign	0.01
R7891:Trpm6	UTSW	19	18776710	missense	probably benign	0.01
R7955:Trpm6	UTSW	19	18854290	missense	probably benign	0.01
R7965:Trpm6	UTSW	19	18876110	missense	probably damaging	1.00
R7967:Trpm6	UTSW	19	18778659	missense	probably damaging	0.99
R7992:Trpm6	UTSW	19	18815350	missense	probably damaging	1.00
R8035:Trpm6	UTSW	19	18792862	missense	probably damaging	0.97
R8108:Trpm6	UTSW	19	18811790	missense	probably damaging	1.00
R8268:Trpm6	UTSW	19	18873861	missense	possibly damaging	0.85
R8411:Trpm6	UTSW	19	18853968	missense	probably benign	0.39
R8413:Trpm6	UTSW	19	18832485	missense	probably benign	0.00
R8534:Trpm6	UTSW	19	18892095	missense	probably benign	0.00
R8932:Trpm6	UTSW	19	18838002	missense	possibly damaging	0.87
R8990:Trpm6	UTSW	19	18815435	missense	probably damaging	1.00
R9403:Trpm6	UTSW	19	18832652	missense	possibly damaging	0.84
R9446:Trpm6	UTSW	19	18838098	missense	possibly damaging	0.91
R9463:Trpm6	UTSW	19	18783900	critical splice donor site	probably null
R9485:Trpm6	UTSW	19	18778614	missense	probably benign	0.06
R9536:Trpm6	UTSW	19	18786759	missense	probably damaging	1.00
R9549:Trpm6	UTSW	19	18876030	nonsense	probably null
R9564:Trpm6	UTSW	19	18873876	missense	possibly damaging	0.92
R9626:Trpm6	UTSW	19	18813482	missense	probably damaging	1.00
R9655:Trpm6	UTSW	19	18892102	missense	probably benign
R9721:Trpm6	UTSW	19	18829972	missense	probably benign	0.12
R9742:Trpm6	UTSW	19	18823402	missense	probably benign	0.09

Predicted Primers

Posted On

2014-06-23