Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03231:Trpm6'

413894

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpm6

Ensembl Gene

ENSMUSG00000024727

Gene Name

transient receptor potential cation channel, subfamily M, member 6

Synonyms

CHAK2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03231

Quality Score

Status

Chromosome

Chromosomal Location

18727347-18869875 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18796545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 800 (S800R)

Ref Sequence

ENSEMBL: ENSMUSP00000037443 (fasta)

Gene Model

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

AlphaFold

Q8CIR4

Predicted Effect

probably benign
Transcript: ENSMUST00000040489
AA Change: S800R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037443
Gene: ENSMUSG00000024727
AA Change: S800R

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

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
Abca9	A	C	11: 110,046,094 (GRCm39)	F277V	probably damaging	Het
Arel1	T	A	12: 84,981,084 (GRCm39)	T308S	probably benign	Het
Asic1	T	A	15: 99,596,983 (GRCm39)	H548Q	probably benign	Het
B3galt1	T	C	2: 67,948,947 (GRCm39)	Y221H	probably damaging	Het
Bltp2	A	G	11: 78,159,528 (GRCm39)	T526A	probably benign	Het
Brs3	G	T	X: 56,090,804 (GRCm39)	C221F	probably benign	Het
Capn7	G	A	14: 31,077,247 (GRCm39)	G322R	probably damaging	Het
Ccdc138	T	C	10: 58,409,528 (GRCm39)	L619P	probably damaging	Het
Cdh22	C	T	2: 164,958,126 (GRCm39)	V614I	probably benign	Het
Dnah5	C	T	15: 28,311,294 (GRCm39)	R1758W	probably damaging	Het
Dr1	T	C	5: 108,423,474 (GRCm39)	V87A	probably benign	Het
F830045P16Rik	A	G	2: 129,302,393 (GRCm39)	S400P	probably damaging	Het
Fcgbpl1	A	G	7: 27,853,147 (GRCm39)	E1478G	possibly damaging	Het
Fyb2	T	A	4: 104,843,460 (GRCm39)	Y353*	probably null	Het
Gm28043	A	G	17: 29,854,916 (GRCm39)	D457G	probably damaging	Het
Gsap	T	C	5: 21,434,164 (GRCm39)	V260A	probably damaging	Het
Kcnt2	A	T	1: 140,461,740 (GRCm39)		probably benign	Het
Magee2	A	T	X: 103,899,944 (GRCm39)	L236M	probably damaging	Het
Map4k3	A	T	17: 80,905,104 (GRCm39)	V729E	probably damaging	Het
Myh13	A	G	11: 67,242,817 (GRCm39)	E910G	possibly damaging	Het
Nbeal1	G	T	1: 60,275,618 (GRCm39)	A651S	probably benign	Het
Nhsl3	C	T	4: 129,117,474 (GRCm39)	V385I	possibly damaging	Het
Nuak2	A	T	1: 132,255,915 (GRCm39)	D188V	probably damaging	Het
Nup210l	A	G	3: 90,096,852 (GRCm39)	T1354A	probably damaging	Het
Or10q1	A	T	19: 13,726,749 (GRCm39)	Q93L	probably benign	Het
Pof1b	C	T	X: 111,554,987 (GRCm39)	S506N	possibly damaging	Het
Prrt3	A	G	6: 113,474,485 (GRCm39)	S246P	possibly damaging	Het
Rps6ka6	T	A	X: 110,360,018 (GRCm39)	T43S	probably benign	Het
Slc19a2	G	T	1: 164,088,449 (GRCm39)	W98L	probably damaging	Het
Snap29	C	T	16: 17,244,964 (GRCm39)	S195L	probably benign	Het
Stt3b	C	T	9: 115,073,062 (GRCm39)	G815S	unknown	Het
Tm9sf2	T	G	14: 122,378,664 (GRCm39)	I256R	possibly damaging	Het
Tpbpb	A	T	13: 61,049,996 (GRCm39)	N44K	probably damaging	Het
Trim13	A	G	14: 61,842,994 (GRCm39)	E337G	probably benign	Het
Trmt6	A	T	2: 132,657,756 (GRCm39)	D33E	probably benign	Het
V1rd19	A	G	7: 23,703,328 (GRCm39)	I265V	probably benign	Het
Xkrx	A	G	X: 133,051,391 (GRCm39)	L420P	probably damaging	Het
Zfp618	T	C	4: 63,012,716 (GRCm39)	Y167H	probably damaging	Het

Other mutations in Trpm6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Trpm6	APN	19	18,761,272 (GRCm39)	splice site	probably benign
IGL00862:Trpm6	APN	19	18,804,892 (GRCm39)	missense	probably damaging	1.00
IGL01348:Trpm6	APN	19	18,855,015 (GRCm39)	missense	probably damaging	1.00
IGL01400:Trpm6	APN	19	18,803,158 (GRCm39)	nonsense	probably null
IGL01451:Trpm6	APN	19	18,786,933 (GRCm39)	missense	probably damaging	1.00
IGL01508:Trpm6	APN	19	18,773,894 (GRCm39)	nonsense	probably null
IGL01995:Trpm6	APN	19	18,807,691 (GRCm39)	splice site	probably benign
IGL02092:Trpm6	APN	19	18,749,695 (GRCm39)	missense	possibly damaging	0.59
IGL02152:Trpm6	APN	19	18,809,903 (GRCm39)	missense	possibly damaging	0.93
IGL02294:Trpm6	APN	19	18,831,427 (GRCm39)	missense	probably benign
IGL02329:Trpm6	APN	19	18,831,581 (GRCm39)	missense	probably benign	0.17
IGL02366:Trpm6	APN	19	18,755,874 (GRCm39)	splice site	probably benign
IGL02402:Trpm6	APN	19	18,764,120 (GRCm39)	missense	probably benign	0.18
IGL02457:Trpm6	APN	19	18,804,762 (GRCm39)	nonsense	probably null
IGL02457:Trpm6	APN	19	18,803,155 (GRCm39)	missense	probably damaging	1.00
IGL02684:Trpm6	APN	19	18,779,571 (GRCm39)	splice site	probably benign
IGL02705:Trpm6	APN	19	18,754,097 (GRCm39)	critical splice donor site	probably null
IGL02728:Trpm6	APN	19	18,787,016 (GRCm39)	missense	possibly damaging	0.71
IGL02742:Trpm6	APN	19	18,807,376 (GRCm39)	splice site	probably benign
IGL02818:Trpm6	APN	19	18,843,621 (GRCm39)	missense	probably benign	0.04
IGL02836:Trpm6	APN	19	18,790,846 (GRCm39)	missense	probably damaging	1.00
IGL03119:Trpm6	APN	19	18,815,381 (GRCm39)	nonsense	probably null
IGL03193:Trpm6	APN	19	18,803,236 (GRCm39)	missense	possibly damaging	0.94
IGL03227:Trpm6	APN	19	18,764,143 (GRCm39)	missense	probably benign	0.12
IGL03227:Trpm6	APN	19	18,796,483 (GRCm39)	missense	probably benign	0.01
IGL03245:Trpm6	APN	19	18,855,065 (GRCm39)	missense	probably damaging	1.00
IGL03328:Trpm6	APN	19	18,815,446 (GRCm39)	missense	possibly damaging	0.94
IGL03341:Trpm6	APN	19	18,790,850 (GRCm39)	missense	probably benign
P0043:Trpm6	UTSW	19	18,855,129 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Trpm6	UTSW	19	18,803,166 (GRCm39)	missense	possibly damaging	0.48
R0057:Trpm6	UTSW	19	18,764,119 (GRCm39)	missense	probably benign	0.05
R0115:Trpm6	UTSW	19	18,807,316 (GRCm39)	missense	probably damaging	0.98
R0119:Trpm6	UTSW	19	18,809,957 (GRCm39)	missense	probably benign	0.05
R0140:Trpm6	UTSW	19	18,796,558 (GRCm39)	splice site	probably null
R0267:Trpm6	UTSW	19	18,800,742 (GRCm39)	missense	probably benign
R0350:Trpm6	UTSW	19	18,861,321 (GRCm39)	splice site	probably null
R0373:Trpm6	UTSW	19	18,830,951 (GRCm39)	missense	probably benign	0.15
R0393:Trpm6	UTSW	19	18,756,008 (GRCm39)	missense	probably damaging	0.99
R0416:Trpm6	UTSW	19	18,760,389 (GRCm39)	splice site	probably benign
R0505:Trpm6	UTSW	19	18,851,266 (GRCm39)	splice site	probably benign
R0526:Trpm6	UTSW	19	18,770,240 (GRCm39)	missense	probably damaging	0.97
R0607:Trpm6	UTSW	19	18,849,585 (GRCm39)	missense	probably benign	0.00
R0609:Trpm6	UTSW	19	18,803,226 (GRCm39)	missense	probably damaging	0.97
R0714:Trpm6	UTSW	19	18,815,451 (GRCm39)	missense	possibly damaging	0.90
R1215:Trpm6	UTSW	19	18,773,862 (GRCm39)	missense	probably damaging	1.00
R1474:Trpm6	UTSW	19	18,773,859 (GRCm39)	missense	probably benign	0.28
R1512:Trpm6	UTSW	19	18,853,295 (GRCm39)	missense	probably benign
R1558:Trpm6	UTSW	19	18,764,192 (GRCm39)	missense	probably benign	0.04
R1597:Trpm6	UTSW	19	18,804,888 (GRCm39)	missense	probably damaging	0.98
R1618:Trpm6	UTSW	19	18,854,995 (GRCm39)	missense	possibly damaging	0.88
R1779:Trpm6	UTSW	19	18,833,581 (GRCm39)	missense	probably damaging	1.00
R1796:Trpm6	UTSW	19	18,804,931 (GRCm39)	missense	possibly damaging	0.90
R1799:Trpm6	UTSW	19	18,869,363 (GRCm39)	splice site	probably null
R1840:Trpm6	UTSW	19	18,843,631 (GRCm39)	missense	probably benign	0.21
R1991:Trpm6	UTSW	19	18,773,648 (GRCm39)	missense	probably benign	0.00
R2030:Trpm6	UTSW	19	18,831,629 (GRCm39)	missense	probably benign
R2073:Trpm6	UTSW	19	18,853,406 (GRCm39)	missense	probably damaging	1.00
R2074:Trpm6	UTSW	19	18,855,103 (GRCm39)	missense	probably damaging	1.00
R2096:Trpm6	UTSW	19	18,803,116 (GRCm39)	missense	probably damaging	0.97
R2103:Trpm6	UTSW	19	18,773,648 (GRCm39)	missense	probably benign	0.00
R2106:Trpm6	UTSW	19	18,790,714 (GRCm39)	missense	possibly damaging	0.95
R2117:Trpm6	UTSW	19	18,807,316 (GRCm39)	missense	probably damaging	0.98
R2850:Trpm6	UTSW	19	18,769,454 (GRCm39)	missense	possibly damaging	0.68
R3125:Trpm6	UTSW	19	18,831,795 (GRCm39)	missense	probably benign	0.05
R3719:Trpm6	UTSW	19	18,749,757 (GRCm39)	nonsense	probably null
R3779:Trpm6	UTSW	19	18,853,403 (GRCm39)	missense	possibly damaging	0.80
R4115:Trpm6	UTSW	19	18,809,921 (GRCm39)	missense	probably damaging	1.00
R4367:Trpm6	UTSW	19	18,804,889 (GRCm39)	missense	probably damaging	0.99
R4523:Trpm6	UTSW	19	18,773,864 (GRCm39)	missense	probably damaging	1.00
R4546:Trpm6	UTSW	19	18,809,841 (GRCm39)	missense	probably damaging	1.00
R4564:Trpm6	UTSW	19	18,809,961 (GRCm39)	missense	possibly damaging	0.95
R4565:Trpm6	UTSW	19	18,803,236 (GRCm39)	missense	probably damaging	1.00
R4697:Trpm6	UTSW	19	18,831,155 (GRCm39)	missense	probably benign	0.01
R4714:Trpm6	UTSW	19	18,831,564 (GRCm39)	missense	possibly damaging	0.93
R4750:Trpm6	UTSW	19	18,853,428 (GRCm39)	missense	probably damaging	0.99
R4771:Trpm6	UTSW	19	18,790,857 (GRCm39)	missense	probably damaging	0.97
R4791:Trpm6	UTSW	19	18,845,345 (GRCm39)	missense	probably benign	0.00
R4814:Trpm6	UTSW	19	18,839,576 (GRCm39)	missense	probably benign	0.11
R5028:Trpm6	UTSW	19	18,764,124 (GRCm39)	missense	probably damaging	1.00
R5237:Trpm6	UTSW	19	18,790,828 (GRCm39)	missense	probably damaging	1.00
R5615:Trpm6	UTSW	19	18,807,297 (GRCm39)	missense	probably damaging	0.96
R5642:Trpm6	UTSW	19	18,807,571 (GRCm39)	missense	probably damaging	1.00
R5645:Trpm6	UTSW	19	18,830,968 (GRCm39)	missense	probably damaging	1.00
R5726:Trpm6	UTSW	19	18,830,981 (GRCm39)	missense	probably damaging	1.00
R5832:Trpm6	UTSW	19	18,764,183 (GRCm39)	missense	possibly damaging	0.66
R5843:Trpm6	UTSW	19	18,833,539 (GRCm39)	missense	probably benign	0.04
R5955:Trpm6	UTSW	19	18,869,383 (GRCm39)	missense	possibly damaging	0.75
R6101:Trpm6	UTSW	19	18,831,112 (GRCm39)	nonsense	probably null
R6105:Trpm6	UTSW	19	18,831,112 (GRCm39)	nonsense	probably null
R6211:Trpm6	UTSW	19	18,760,492 (GRCm39)	missense	probably damaging	1.00
R6228:Trpm6	UTSW	19	18,831,655 (GRCm39)	missense	probably damaging	1.00
R6263:Trpm6	UTSW	19	18,831,472 (GRCm39)	missense	possibly damaging	0.94
R6453:Trpm6	UTSW	19	18,807,354 (GRCm39)	missense	probably damaging	1.00
R6562:Trpm6	UTSW	19	18,815,406 (GRCm39)	missense	probably damaging	1.00
R6624:Trpm6	UTSW	19	18,866,384 (GRCm39)	missense	probably damaging	1.00
R6624:Trpm6	UTSW	19	18,773,803 (GRCm39)	critical splice acceptor site	probably null
R6729:Trpm6	UTSW	19	18,807,661 (GRCm39)	missense	probably damaging	1.00
R6765:Trpm6	UTSW	19	18,855,129 (GRCm39)	missense	probably damaging	1.00
R6976:Trpm6	UTSW	19	18,760,527 (GRCm39)	missense	probably benign
R7103:Trpm6	UTSW	19	18,790,911 (GRCm39)	missense	possibly damaging	0.87
R7126:Trpm6	UTSW	19	18,831,397 (GRCm39)	nonsense	probably null
R7128:Trpm6	UTSW	19	18,789,137 (GRCm39)	missense	possibly damaging	0.92
R7157:Trpm6	UTSW	19	18,815,462 (GRCm39)	missense	possibly damaging	0.91
R7212:Trpm6	UTSW	19	18,831,155 (GRCm39)	missense	probably benign	0.01
R7263:Trpm6	UTSW	19	18,854,150 (GRCm39)	missense	probably damaging	1.00
R7268:Trpm6	UTSW	19	18,755,949 (GRCm39)	missense	probably benign	0.13
R7305:Trpm6	UTSW	19	18,853,455 (GRCm39)	missense	probably benign	0.30
R7498:Trpm6	UTSW	19	18,853,484 (GRCm39)	missense	probably damaging	1.00
R7558:Trpm6	UTSW	19	18,756,029 (GRCm39)	missense	probably damaging	0.96
R7590:Trpm6	UTSW	19	18,809,945 (GRCm39)	missense	probably benign	0.31
R7646:Trpm6	UTSW	19	18,845,325 (GRCm39)	missense	probably benign	0.10
R7650:Trpm6	UTSW	19	18,853,377 (GRCm39)	missense	possibly damaging	0.70
R7727:Trpm6	UTSW	19	18,831,613 (GRCm39)	missense	probably damaging	0.97
R7743:Trpm6	UTSW	19	18,804,772 (GRCm39)	missense	probably benign	0.03
R7747:Trpm6	UTSW	19	18,727,409 (GRCm39)	splice site	probably null
R7807:Trpm6	UTSW	19	18,807,220 (GRCm39)	missense	probably benign	0.11
R7870:Trpm6	UTSW	19	18,792,605 (GRCm39)	missense	probably benign	0.01
R7891:Trpm6	UTSW	19	18,754,074 (GRCm39)	missense	probably benign	0.01
R7955:Trpm6	UTSW	19	18,831,654 (GRCm39)	missense	probably benign	0.01
R7965:Trpm6	UTSW	19	18,853,474 (GRCm39)	missense	probably damaging	1.00
R7967:Trpm6	UTSW	19	18,756,023 (GRCm39)	missense	probably damaging	0.99
R7992:Trpm6	UTSW	19	18,792,714 (GRCm39)	missense	probably damaging	1.00
R8035:Trpm6	UTSW	19	18,770,226 (GRCm39)	missense	probably damaging	0.97
R8108:Trpm6	UTSW	19	18,789,154 (GRCm39)	missense	probably damaging	1.00
R8268:Trpm6	UTSW	19	18,851,225 (GRCm39)	missense	possibly damaging	0.85
R8411:Trpm6	UTSW	19	18,831,332 (GRCm39)	missense	probably benign	0.39
R8413:Trpm6	UTSW	19	18,809,849 (GRCm39)	missense	probably benign	0.00
R8534:Trpm6	UTSW	19	18,869,459 (GRCm39)	missense	probably benign	0.00
R8932:Trpm6	UTSW	19	18,815,366 (GRCm39)	missense	possibly damaging	0.87
R8990:Trpm6	UTSW	19	18,792,799 (GRCm39)	missense	probably damaging	1.00
R9403:Trpm6	UTSW	19	18,810,016 (GRCm39)	missense	possibly damaging	0.84
R9446:Trpm6	UTSW	19	18,815,462 (GRCm39)	missense	possibly damaging	0.91
R9463:Trpm6	UTSW	19	18,761,264 (GRCm39)	critical splice donor site	probably null
R9485:Trpm6	UTSW	19	18,755,978 (GRCm39)	missense	probably benign	0.06
R9536:Trpm6	UTSW	19	18,764,123 (GRCm39)	missense	probably damaging	1.00
R9549:Trpm6	UTSW	19	18,853,394 (GRCm39)	nonsense	probably null
R9564:Trpm6	UTSW	19	18,851,240 (GRCm39)	missense	possibly damaging	0.92
R9626:Trpm6	UTSW	19	18,790,846 (GRCm39)	missense	probably damaging	1.00
R9655:Trpm6	UTSW	19	18,869,466 (GRCm39)	missense	probably benign
R9721:Trpm6	UTSW	19	18,807,336 (GRCm39)	missense	probably benign	0.12
R9742:Trpm6	UTSW	19	18,800,766 (GRCm39)	missense	probably benign	0.09

Posted On

2016-08-02