Mutagenetix > Incidental Mutation

Incidental Mutation 'R7900:Trpm7'

609930

Institutional Source

Beutler Lab

Gene Symbol

Trpm7

Ensembl Gene

ENSMUSG00000027365

Gene Name

transient receptor potential cation channel, subfamily M, member 7

Synonyms

CHAK, 5033407O22Rik, TRP-PLIK, 4833414K03Rik, CHAK1, LTRPC7, Ltpr7, 2310022G15Rik

MMRRC Submission

045952-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126633485-126718150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126639418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1689 (M1689V)

Ref Sequence

ENSEMBL: ENSMUSP00000099513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028843] [ENSMUST00000103224]

AlphaFold

Q923J1

PDB Structure

CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (AMPPNP COMPLEX) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (ADP-MG COMPLEX) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (APO) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000028843
AA Change: M1688V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000028843
Gene: ENSMUSG00000027365
AA Change: M1688V

Domain	Start	End	E-Value	Type
Blast:ANK	438	467	5e-6	BLAST
low complexity region	541	555	N/A	INTRINSIC
transmembrane domain	757	774	N/A	INTRINSIC
transmembrane domain	853	875	N/A	INTRINSIC
Pfam:Ion_trans	887	1096	3e-8	PFAM
PDB:3E7K\|H	1198	1249	6e-27	PDB
low complexity region	1385	1397	N/A	INTRINSIC
Blast:Alpha_kinase	1398	1545	6e-64	BLAST
Alpha_kinase	1596	1813	3.77e-89	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103224
AA Change: M1689V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000099513
Gene: ENSMUSG00000027365
AA Change: M1689V

Domain	Start	End	E-Value	Type
Blast:ANK	438	467	5e-6	BLAST
low complexity region	541	555	N/A	INTRINSIC
transmembrane domain	757	774	N/A	INTRINSIC
Pfam:Ion_trans	855	1108	1.7e-9	PFAM
Pfam:TRPM_tetra	1194	1249	3.3e-29	PFAM
low complexity region	1385	1397	N/A	INTRINSIC
Blast:Alpha_kinase	1398	1546	2e-64	BLAST
Alpha_kinase	1597	1814	3.77e-89	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119232
Gene: ENSMUSG00000027365
AA Change: M79V

Domain	Start	End	E-Value	Type
Alpha_kinase	1	242	8e-61	SMART

Meta Mutation Damage Score

0.0568

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele display embryonic lehality. Mice with conditional deletion in developing thymocytes display a block in thymopoiesis. Mice homozygous for a kinase deleted allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit altered magnesium homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Adamtsl5	A	G	10: 80,177,735 (GRCm39)	F309S	probably damaging	Het
Ankle1	C	T	8: 71,860,061 (GRCm39)	T213I	probably damaging	Het
C4b	A	G	17: 34,958,751 (GRCm39)	S528P	probably benign	Het
Camk2a	A	G	18: 61,090,438 (GRCm39)	Y222C	probably damaging	Het
Cnst	A	G	1: 179,450,453 (GRCm39)	D639G	probably damaging	Het
Ctbp2	A	C	7: 132,616,328 (GRCm39)	S202R	probably benign	Het
Cwf19l2	G	T	9: 3,460,107 (GRCm39)	L798F	probably damaging	Het
Cyp11a1	T	A	9: 57,923,667 (GRCm39)	V124E	possibly damaging	Het
Ddx3y	C	T	Y: 1,266,594 (GRCm39)		probably null	Het
Dlst	G	T	12: 85,177,292 (GRCm39)	R346L	probably benign	Het
Dnah2	A	G	11: 69,409,254 (GRCm39)	S375P	probably damaging	Het
Dnm3	T	A	1: 162,182,940 (GRCm39)	Y125F	probably benign	Het
Dock9	C	T	14: 121,783,491 (GRCm39)	A2011T	possibly damaging	Het
Efr3a	T	A	15: 65,719,984 (GRCm39)		probably null	Het
Egln1	A	T	8: 125,640,879 (GRCm39)	I319N	possibly damaging	Het
Gata3	T	A	2: 9,863,461 (GRCm39)	N351I	probably damaging	Het
Gjd3	T	C	11: 102,690,920 (GRCm39)	N361S	probably benign	Het
Gpcpd1	T	C	2: 132,376,659 (GRCm39)	T546A	probably damaging	Het
Gpihbp1	T	C	15: 75,469,791 (GRCm39)	F169L	probably benign	Het
Gpnmb	A	T	6: 49,027,400 (GRCm39)	I375L	possibly damaging	Het
Itpka	A	T	2: 119,580,994 (GRCm39)	T381S	probably benign	Het
Lhx4	T	C	1: 155,617,709 (GRCm39)		probably benign	Het
Lrguk	T	C	6: 34,106,129 (GRCm39)	L718P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nr1d1	T	A	11: 98,660,537 (GRCm39)	T477S	probably benign	Het
Nxnl1	A	T	8: 72,019,170 (GRCm39)	D18E	probably damaging	Het
Onecut2	G	T	18: 64,474,658 (GRCm39)	R403L	probably damaging	Het
Or51v14	T	C	7: 103,260,900 (GRCm39)	Y220C	possibly damaging	Het
Or5an1	T	A	19: 12,260,705 (GRCm39)	C98S	probably damaging	Het
Pla2r1	T	C	2: 60,258,858 (GRCm39)	T1177A	possibly damaging	Het
Prkd2	T	C	7: 16,587,269 (GRCm39)	V405A	probably benign	Het
Ranbp1	T	C	16: 18,063,161 (GRCm39)	T72A	probably damaging	Het
Retnla	A	C	16: 48,663,977 (GRCm39)	R90S	probably benign	Het
Sec31b	A	T	19: 44,514,669 (GRCm39)	I385N	probably damaging	Het
Slc6a19	C	T	13: 73,848,583 (GRCm39)	R57H	probably damaging	Het
Smurf1	T	C	5: 144,836,183 (GRCm39)	D110G	probably damaging	Het
Specc1	A	G	11: 62,110,187 (GRCm39)	Y975C	probably damaging	Het
Tas2r136	T	A	6: 132,754,599 (GRCm39)	N176I	possibly damaging	Het
Tecrl	A	C	5: 83,427,188 (GRCm39)	V320G	probably benign	Het
Tmem245	A	G	4: 56,924,973 (GRCm39)		probably null	Het
Tpd52l1	T	A	10: 31,214,178 (GRCm39)		probably null	Het
Trbv2	A	G	6: 41,024,908 (GRCm39)	Y108C	probably damaging	Het
Usp24	A	G	4: 106,266,597 (GRCm39)	Y1855C	probably damaging	Het
Usp9y	A	T	Y: 1,384,354 (GRCm39)	S721R	possibly damaging	Het
Vwf	G	A	6: 125,605,439 (GRCm39)		probably null	Het
Washc4	T	A	10: 83,409,637 (GRCm39)		probably null	Het
Yeats4	G	A	10: 117,056,464 (GRCm39)	H71Y	possibly damaging	Het
Zbtb38	A	C	9: 96,570,989 (GRCm39)	L32V	probably damaging	Het
Zfy1	T	C	Y: 725,519 (GRCm39)	T749A	possibly damaging	Het

Other mutations in Trpm7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Trpm7	APN	2	126,670,951 (GRCm39)	missense	possibly damaging	0.82
IGL01084:Trpm7	APN	2	126,687,992 (GRCm39)	critical splice donor site	probably null
IGL01634:Trpm7	APN	2	126,668,738 (GRCm39)	missense	probably damaging	1.00
IGL01678:Trpm7	APN	2	126,658,719 (GRCm39)	missense	probably damaging	0.99
IGL02005:Trpm7	APN	2	126,655,104 (GRCm39)	missense	probably damaging	0.97
IGL02064:Trpm7	APN	2	126,639,863 (GRCm39)	missense	probably damaging	1.00
IGL02156:Trpm7	APN	2	126,641,163 (GRCm39)	unclassified	probably benign
IGL02172:Trpm7	APN	2	126,637,248 (GRCm39)	missense	possibly damaging	0.94
IGL02334:Trpm7	APN	2	126,649,282 (GRCm39)	missense	probably benign
IGL02375:Trpm7	APN	2	126,667,664 (GRCm39)	missense	probably damaging	1.00
IGL02388:Trpm7	APN	2	126,661,811 (GRCm39)	missense	possibly damaging	0.80
IGL02552:Trpm7	APN	2	126,682,699 (GRCm39)	missense	probably damaging	1.00
IGL02684:Trpm7	APN	2	126,688,079 (GRCm39)	missense	probably damaging	0.99
IGL02901:Trpm7	APN	2	126,649,207 (GRCm39)	critical splice donor site	probably null
Accused	UTSW	2	126,668,657 (GRCm39)	missense	probably damaging	0.99
Condemned	UTSW	2	126,677,428 (GRCm39)	missense	probably damaging	1.00
denounced	UTSW	2	126,654,941 (GRCm39)	missense	probably benign	0.00
deposed	UTSW	2	126,639,418 (GRCm39)	missense	probably benign	0.01
Summac	UTSW	2	126,661,883 (GRCm39)	missense	probably damaging	1.00
Vacated	UTSW	2	126,691,842 (GRCm39)	missense	probably damaging	1.00
P0037:Trpm7	UTSW	2	126,658,677 (GRCm39)	splice site	probably benign
R0038:Trpm7	UTSW	2	126,637,388 (GRCm39)	missense	probably damaging	1.00
R0139:Trpm7	UTSW	2	126,654,691 (GRCm39)	missense	probably benign
R0165:Trpm7	UTSW	2	126,639,433 (GRCm39)	missense	probably damaging	0.97
R0511:Trpm7	UTSW	2	126,668,638 (GRCm39)	nonsense	probably null
R0543:Trpm7	UTSW	2	126,690,449 (GRCm39)	missense	probably damaging	1.00
R0784:Trpm7	UTSW	2	126,687,992 (GRCm39)	critical splice donor site	probably null
R0844:Trpm7	UTSW	2	126,677,428 (GRCm39)	missense	probably damaging	1.00
R0865:Trpm7	UTSW	2	126,641,159 (GRCm39)	splice site	probably null
R0919:Trpm7	UTSW	2	126,673,158 (GRCm39)	missense	probably damaging	1.00
R0972:Trpm7	UTSW	2	126,646,969 (GRCm39)	missense	probably benign
R1109:Trpm7	UTSW	2	126,639,713 (GRCm39)	missense	probably benign	0.01
R1118:Trpm7	UTSW	2	126,664,406 (GRCm39)	missense	possibly damaging	0.63
R1278:Trpm7	UTSW	2	126,667,374 (GRCm39)	nonsense	probably null
R1527:Trpm7	UTSW	2	126,672,082 (GRCm39)	missense	probably benign	0.18
R1542:Trpm7	UTSW	2	126,664,519 (GRCm39)	nonsense	probably null
R1882:Trpm7	UTSW	2	126,654,697 (GRCm39)	missense	probably benign	0.00
R1951:Trpm7	UTSW	2	126,673,219 (GRCm39)	missense	probably damaging	1.00
R2011:Trpm7	UTSW	2	126,665,917 (GRCm39)	nonsense	probably null
R2012:Trpm7	UTSW	2	126,665,917 (GRCm39)	nonsense	probably null
R2026:Trpm7	UTSW	2	126,654,658 (GRCm39)	missense	probably benign	0.39
R2067:Trpm7	UTSW	2	126,639,647 (GRCm39)	missense	probably damaging	1.00
R2926:Trpm7	UTSW	2	126,700,329 (GRCm39)	splice site	probably benign
R3082:Trpm7	UTSW	2	126,686,342 (GRCm39)	missense	possibly damaging	0.90
R3552:Trpm7	UTSW	2	126,668,630 (GRCm39)	splice site	probably benign
R3607:Trpm7	UTSW	2	126,638,348 (GRCm39)	intron	probably benign
R3739:Trpm7	UTSW	2	126,693,441 (GRCm39)	missense	probably damaging	1.00
R3943:Trpm7	UTSW	2	126,673,138 (GRCm39)	missense	possibly damaging	0.94
R4161:Trpm7	UTSW	2	126,658,751 (GRCm39)	missense	probably damaging	1.00
R4176:Trpm7	UTSW	2	126,671,083 (GRCm39)	missense	possibly damaging	0.83
R4392:Trpm7	UTSW	2	126,690,458 (GRCm39)	missense	probably damaging	1.00
R4392:Trpm7	UTSW	2	126,637,429 (GRCm39)	splice site	probably null
R4404:Trpm7	UTSW	2	126,675,635 (GRCm39)	missense	probably damaging	0.97
R4574:Trpm7	UTSW	2	126,639,131 (GRCm39)	missense	probably benign	0.01
R4714:Trpm7	UTSW	2	126,682,703 (GRCm39)	nonsense	probably null
R4807:Trpm7	UTSW	2	126,673,149 (GRCm39)	missense	probably benign	0.00
R4815:Trpm7	UTSW	2	126,700,412 (GRCm39)	missense	probably damaging	1.00
R4846:Trpm7	UTSW	2	126,655,105 (GRCm39)	missense	possibly damaging	0.63
R4972:Trpm7	UTSW	2	126,665,978 (GRCm39)	missense	probably damaging	1.00
R5097:Trpm7	UTSW	2	126,638,256 (GRCm39)	critical splice donor site	probably null
R5263:Trpm7	UTSW	2	126,663,137 (GRCm39)	missense	probably benign	0.34
R5361:Trpm7	UTSW	2	126,671,161 (GRCm39)	missense	possibly damaging	0.77
R5377:Trpm7	UTSW	2	126,684,775 (GRCm39)	critical splice donor site	probably null
R5574:Trpm7	UTSW	2	126,654,950 (GRCm39)	missense	probably benign
R5782:Trpm7	UTSW	2	126,639,634 (GRCm39)	missense	probably benign	0.04
R5840:Trpm7	UTSW	2	126,664,531 (GRCm39)	nonsense	probably null
R6044:Trpm7	UTSW	2	126,656,665 (GRCm39)	missense	probably damaging	1.00
R6178:Trpm7	UTSW	2	126,679,301 (GRCm39)	missense	probably damaging	1.00
R6196:Trpm7	UTSW	2	126,667,559 (GRCm39)	missense	possibly damaging	0.66
R6457:Trpm7	UTSW	2	126,649,214 (GRCm39)	missense	probably benign
R6530:Trpm7	UTSW	2	126,654,631 (GRCm39)	missense	probably damaging	1.00
R6764:Trpm7	UTSW	2	126,686,340 (GRCm39)	missense	possibly damaging	0.79
R6841:Trpm7	UTSW	2	126,654,941 (GRCm39)	missense	probably benign	0.00
R6868:Trpm7	UTSW	2	126,679,334 (GRCm39)	missense	probably damaging	1.00
R7250:Trpm7	UTSW	2	126,668,685 (GRCm39)	missense	possibly damaging	0.87
R7402:Trpm7	UTSW	2	126,641,126 (GRCm39)	missense	probably damaging	1.00
R7451:Trpm7	UTSW	2	126,668,657 (GRCm39)	missense	probably damaging	0.99
R7486:Trpm7	UTSW	2	126,673,115 (GRCm39)	critical splice donor site	probably null
R7509:Trpm7	UTSW	2	126,691,842 (GRCm39)	missense	probably damaging	1.00
R7586:Trpm7	UTSW	2	126,652,085 (GRCm39)	missense	probably benign
R7774:Trpm7	UTSW	2	126,655,158 (GRCm39)	missense	probably benign	0.09
R7793:Trpm7	UTSW	2	126,665,995 (GRCm39)	nonsense	probably null
R7812:Trpm7	UTSW	2	126,641,236 (GRCm39)	missense	probably damaging	1.00
R7951:Trpm7	UTSW	2	126,655,188 (GRCm39)	missense	possibly damaging	0.94
R7965:Trpm7	UTSW	2	126,667,614 (GRCm39)	missense	probably damaging	0.99
R7992:Trpm7	UTSW	2	126,667,454 (GRCm39)	missense	probably benign
R8034:Trpm7	UTSW	2	126,688,119 (GRCm39)	missense	probably damaging	0.98
R8199:Trpm7	UTSW	2	126,691,918 (GRCm39)	missense	probably damaging	1.00
R8304:Trpm7	UTSW	2	126,639,797 (GRCm39)	missense	probably damaging	1.00
R8405:Trpm7	UTSW	2	126,658,755 (GRCm39)	missense	probably benign	0.26
R8674:Trpm7	UTSW	2	126,641,086 (GRCm39)	unclassified	probably benign
R8742:Trpm7	UTSW	2	126,667,469 (GRCm39)	missense	probably damaging	1.00
R8754:Trpm7	UTSW	2	126,664,623 (GRCm39)	missense	probably damaging	1.00
R8842:Trpm7	UTSW	2	126,663,131 (GRCm39)	missense	probably benign	0.05
R8850:Trpm7	UTSW	2	126,652,100 (GRCm39)	missense	probably benign	0.00
R8881:Trpm7	UTSW	2	126,661,883 (GRCm39)	missense	probably damaging	1.00
R8898:Trpm7	UTSW	2	126,664,661 (GRCm39)	missense	possibly damaging	0.92
R9339:Trpm7	UTSW	2	126,665,906 (GRCm39)	missense	probably benign	0.04
R9428:Trpm7	UTSW	2	126,671,140 (GRCm39)	missense	probably damaging	1.00
R9446:Trpm7	UTSW	2	126,672,185 (GRCm39)	critical splice acceptor site	probably null
R9568:Trpm7	UTSW	2	126,664,510 (GRCm39)	missense	probably benign	0.02
R9647:Trpm7	UTSW	2	126,667,562 (GRCm39)	missense	probably damaging	1.00
R9678:Trpm7	UTSW	2	126,686,290 (GRCm39)	missense	probably damaging	1.00
R9746:Trpm7	UTSW	2	126,664,578 (GRCm39)	missense	possibly damaging	0.47
X0026:Trpm7	UTSW	2	126,671,210 (GRCm39)	missense	probably benign
Z1088:Trpm7	UTSW	2	126,639,201 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCACTGCCCTGCTGAATG -3'
(R):5'- TCTGTCTCAGAGTAAGTGTCAGTG -3'

Sequencing Primer
(F):5'- TGGCAGTACAACAGGAAAACTTC -3'
(R):5'- GTCAGTGAACTTGACTGTAAGC -3'

Posted On

2019-12-20