Mutagenetix > Incidental Mutation

Incidental Mutation 'R3552:Trpm7'

268975

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

040669-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126633485-126718150 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 126668630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000028843
Gene: ENSMUSG00000027365

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

SMART Domains

Protein: ENSMUSP00000099513
Gene: ENSMUSG00000027365

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

noncoding transcript
Transcript: ENSMUST00000132003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152615

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,152,450 (GRCm39)	Y866N	probably damaging	Het
Agk	A	G	6: 40,371,615 (GRCm39)	T371A	probably benign	Het
Akna	T	C	4: 63,316,361 (GRCm39)	M1V	probably null	Het
Aldh7a1	T	C	18: 56,683,364 (GRCm39)		probably null	Het
Ankrd26	A	T	6: 118,484,737 (GRCm39)	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,129,584 (GRCm39)	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,167,598 (GRCm39)	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,744,859 (GRCm39)	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,335,620 (GRCm39)	S173G	probably benign	Het
Chrm2	A	T	6: 36,500,745 (GRCm39)	I201F	probably damaging	Het
Col16a1	A	G	4: 129,970,834 (GRCm39)	T618A	probably benign	Het
Dele1	A	G	18: 38,391,418 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,611,787 (GRCm39)	Y192C	probably benign	Het
Ep400	T	A	5: 110,877,153 (GRCm39)	E821V	unknown	Het
Esrrg	G	A	1: 187,882,387 (GRCm39)	V215I	probably benign	Het
Evx1	A	T	6: 52,293,908 (GRCm39)	S359C	probably damaging	Het
Fcrl2	A	G	3: 87,166,717 (GRCm39)	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,948,110 (GRCm39)	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,179,613 (GRCm39)		probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hrc	G	C	7: 44,985,757 (GRCm39)	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 191,921,074 (GRCm39)	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,614,584 (GRCm39)	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,271,724 (GRCm39)	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,460,306 (GRCm39)	W311R	probably damaging	Het
Megf11	A	G	9: 64,602,745 (GRCm39)	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,415,072 (GRCm39)	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,421,442 (GRCm39)	S4311G	probably benign	Het
Myo15a	C	T	11: 60,400,489 (GRCm39)	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,801,161 (GRCm39)	K1140M	probably damaging	Het
Oc90	T	C	15: 65,750,650 (GRCm39)	Q365R	possibly damaging	Het
Oplah	C	T	15: 76,186,294 (GRCm39)	D734N	possibly damaging	Het
Or1e19	T	C	11: 73,316,678 (GRCm39)	I44V	probably benign	Het
Or4c58	A	C	2: 89,674,687 (GRCm39)	M210R	possibly damaging	Het
Or9g3	T	C	2: 85,590,237 (GRCm39)	N161S	possibly damaging	Het
Pbx1	G	A	1: 167,986,362 (GRCm39)	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,841,270 (GRCm39)	R330L	probably benign	Het
Phox2b	C	A	5: 67,254,999 (GRCm39)	R150L	probably damaging	Het
Plscr2	A	G	9: 92,172,848 (GRCm39)	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,852,497 (GRCm39)	Q518L	probably benign	Het
Rbl1	A	T	2: 157,037,505 (GRCm39)	I214K	probably benign	Het
Ryr1	T	A	7: 28,756,422 (GRCm39)	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,582,132 (GRCm39)	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,963,470 (GRCm39)	Y615C	probably benign	Het
Sirt5	A	T	13: 43,536,643 (GRCm39)	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,252,422 (GRCm39)		probably benign	Het
Slc5a4b	A	G	10: 75,917,358 (GRCm39)	V226A	probably damaging	Het
Slf2	C	A	19: 44,923,390 (GRCm39)	S68*	probably null	Het
Smyd5	G	A	6: 85,419,193 (GRCm39)	E292K	probably damaging	Het
Spns1	A	G	7: 125,969,543 (GRCm39)	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141 (GRCm39)	Q173L	unknown	Het
Ssrp1	C	A	2: 84,874,736 (GRCm39)	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,287,705 (GRCm39)	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Tnxb	A	T	17: 34,937,695 (GRCm39)	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,516,579 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,314,815 (GRCm39)	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,753,477 (GRCm39)	H213R	possibly damaging	Het
Washc2	A	G	6: 116,197,529 (GRCm39)	D168G	probably damaging	Het
Washc4	A	G	10: 83,382,720 (GRCm39)	I45V	probably benign	Het
Zfp352	A	G	4: 90,113,339 (GRCm39)	E493G	probably benign	Het
Zfp692	C	T	11: 58,200,254 (GRCm39)	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,602,067 (GRCm39)	S337*	probably null	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
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
R7900:Trpm7	UTSW	2	126,639,418 (GRCm39)	missense	probably benign	0.01
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'- AACTCTACAGGGCTAATTGGAG -3'
(R):5'- CTTCAGACAGGATGAAACGATG -3'

Sequencing Primer
(F):5'- AATGTTGACACTTCCTTTTTACTGAC -3'
(R):5'- GAAACGATGGCTATGAAATTACTCAC -3'

Posted On

2015-02-19