Mutagenetix > Incidental Mutation

Incidental Mutation 'R8850:Trpm7'

674926

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

068673-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126633485-126718150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126652100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1458 (I1458L)

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

SMART Domains

Protein: ENSMUSP00000028843
Gene: ENSMUSG00000027365
AA Change: I1458L

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: I1458L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099513
Gene: ENSMUSG00000027365
AA Change: I1458L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	G	A	12: 70,989,032 (GRCm39)		probably null	Het
Adgrd1	A	G	5: 129,219,574 (GRCm39)	K465E	probably benign	Het
Aktip	A	T	8: 91,853,402 (GRCm39)	V105E	probably benign	Het
Ankrd7	A	G	6: 18,870,006 (GRCm39)	Y253C	probably damaging	Het
Bag6	T	C	17: 35,361,041 (GRCm39)	M440T	unknown	Het
Camk2b	T	A	11: 5,922,838 (GRCm39)	N426Y	probably damaging	Het
Ccdc82	T	A	9: 13,289,706 (GRCm39)	Y500*	probably null	Het
Cenpe	T	A	3: 134,930,777 (GRCm39)	D341E	probably damaging	Het
Cyp2j13	A	T	4: 95,956,428 (GRCm39)	M227K	probably benign	Het
Dmbt1	G	A	7: 130,692,134 (GRCm39)	V967I	unknown	Het
Dnmt3b	A	T	2: 153,515,933 (GRCm39)	N447Y	probably benign	Het
Dtl	A	T	1: 191,285,175 (GRCm39)	Y320*	probably null	Het
Dtymk	A	C	1: 93,729,543 (GRCm39)	S3A	probably benign	Het
Eefsec	G	A	6: 88,423,253 (GRCm39)	T70M	possibly damaging	Het
Fam171a1	C	T	2: 3,221,344 (GRCm39)	T270M	probably damaging	Het
Gm17728	T	C	17: 9,641,159 (GRCm39)	S90P	probably benign	Het
Hdlbp	A	G	1: 93,359,053 (GRCm39)	L213P	probably damaging	Het
Heatr5b	T	C	17: 79,109,188 (GRCm39)	I1024V	probably benign	Het
Hr	C	T	14: 70,799,305 (GRCm39)	R597*	probably null	Het
Ifit3	T	C	19: 34,564,988 (GRCm39)	I178T	probably damaging	Het
Ifna6	A	G	4: 88,746,222 (GRCm39)	*190W	probably null	Het
Igkv4-55	A	T	6: 69,584,315 (GRCm39)	M99K	probably benign	Het
Klk1	T	A	7: 43,877,056 (GRCm39)	I53N	probably damaging	Het
Lpcat2b	A	G	5: 107,580,692 (GRCm39)	H7R	probably benign	Het
Lrrc37a	G	A	11: 103,393,481 (GRCm39)	P648L		Het
Mast4	G	T	13: 102,895,174 (GRCm39)	P975H	probably damaging	Het
Mfrp	C	T	9: 44,013,807 (GRCm39)	L106F	probably benign	Het
Mllt10	T	A	2: 18,201,469 (GRCm39)	S652T	probably benign	Het
Mroh8	C	A	2: 157,083,673 (GRCm39)	G400W	probably damaging	Het
Neurl4	A	G	11: 69,794,788 (GRCm39)		probably benign	Het
Nop14	A	C	5: 34,817,352 (GRCm39)	V13G	probably benign	Het
Nup188	T	A	2: 30,217,576 (GRCm39)	L837Q	probably damaging	Het
Or2a54	T	A	6: 43,092,905 (GRCm39)	N76K	possibly damaging	Het
Or2ak5	T	A	11: 58,611,572 (GRCm39)	T101S	probably benign	Het
Or7g30	T	C	9: 19,352,817 (GRCm39)	S203P	probably damaging	Het
Or8k39	T	C	2: 86,563,302 (GRCm39)	Y218C	probably damaging	Het
Pate10	A	G	9: 35,652,391 (GRCm39)	Y16C	probably damaging	Het
Pde8b	A	T	13: 95,226,793 (GRCm39)	V185E	probably benign	Het
Pink1	G	T	4: 138,047,333 (GRCm39)	A247D	probably damaging	Het
Pla2g10	A	T	16: 13,545,914 (GRCm39)	V40D	probably damaging	Het
Plce1	G	A	19: 38,512,811 (GRCm39)	G37R	probably benign	Het
Pld1	A	G	3: 28,166,439 (GRCm39)	E826G	possibly damaging	Het
Poc5	G	T	13: 96,535,228 (GRCm39)	K164N	possibly damaging	Het
Polr2b	A	T	5: 77,463,761 (GRCm39)	M53L	probably benign	Het
Ppp1r10	C	T	17: 36,239,690 (GRCm39)	P470S	probably damaging	Het
Rasef	A	G	4: 73,645,840 (GRCm39)	S510P	probably damaging	Het
Rnf17	T	A	14: 56,722,658 (GRCm39)	L1073Q	probably damaging	Het
Rpl13a-ps1	C	T	19: 50,018,739 (GRCm39)	G146R	probably damaging	Het
Scn2a	A	G	2: 65,518,730 (GRCm39)	D368G	probably damaging	Het
Shc3	T	A	13: 51,634,248 (GRCm39)	S86C	probably benign	Het
Sos1	T	C	17: 80,741,405 (GRCm39)	H460R	probably damaging	Het
Steap1	T	A	5: 5,790,838 (GRCm39)	M37L	probably benign	Het
Themis	G	T	10: 28,673,492 (GRCm39)	C593F	possibly damaging	Het
Tnn	A	G	1: 159,937,814 (GRCm39)		probably null	Het
Trabd	G	T	15: 88,969,667 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,248,047 (GRCm39)	K216N	probably damaging	Het
Trmt44	G	A	5: 35,721,673 (GRCm39)	P497S	probably benign	Het
Trp53bp2	A	G	1: 182,256,475 (GRCm39)	Y15C	probably damaging	Het
Ttc17	G	T	2: 94,237,003 (GRCm39)	A3E	possibly damaging	Het
Ttn	C	A	2: 76,704,208 (GRCm39)	V9274L	unknown	Het
Tut7	T	A	13: 59,937,011 (GRCm39)	Q1212L	possibly damaging	Het
Vmn2r105	T	A	17: 20,428,872 (GRCm39)	I735F	probably damaging	Het
Vmn2r22	A	G	6: 123,614,454 (GRCm39)	C379R	probably damaging	Het
Vmn2r97	G	A	17: 19,149,607 (GRCm39)	E332K	probably benign	Het
Xrn1	A	G	9: 95,920,732 (GRCm39)	T1331A	probably benign	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
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
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'- GTTTCTCCCCTTTCAAACATAACCA -3'
(R):5'- CCTGGTAGCTCTCTTCAGTATGA -3'

Sequencing Primer
(F):5'- CTGATGACAATCTCAGCtaa -3'
(R):5'- ATGAAACATTTGCAGAGCCTG -3'

Posted On

2021-07-15