Mutagenetix > Incidental Mutation

Incidental Mutation 'R5361:Trpm7'

422789

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

042940-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126633485-126718150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126671161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 607 (I607N)

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

possibly damaging
Transcript: ENSMUST00000028843
AA Change: I607N

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028843
Gene: ENSMUSG00000027365
AA Change: I607N

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

possibly damaging
Transcript: ENSMUST00000103224
AA Change: I607N

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099513
Gene: ENSMUSG00000027365
AA Change: I607N

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: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	A	9: 57,164,468 (GRCm39)	K635N	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ahnak	T	A	19: 8,992,705 (GRCm39)	M4663K	possibly damaging	Het
C4b	T	A	17: 34,960,212 (GRCm39)	T280S	probably benign	Het
Ccdc166	A	G	15: 75,852,869 (GRCm39)	V366A	probably benign	Het
Cdh23	A	G	10: 60,493,044 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,792,292 (GRCm39)	T1281A	unknown	Het
Cul9	TTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTC	17: 46,811,775 (GRCm39)		probably benign	Het
Dbndd1	T	A	8: 124,233,484 (GRCm39)	D127V	probably damaging	Het
Ddx20	T	A	3: 105,590,825 (GRCm39)	E197V	probably damaging	Het
Dennd10	A	G	19: 60,814,324 (GRCm39)	M96V	probably benign	Het
Dnm3	A	G	1: 161,838,471 (GRCm39)	S826P	probably damaging	Het
Dnmt3a	T	C	12: 3,945,643 (GRCm39)	V24A	probably benign	Het
Dop1b	C	A	16: 93,567,392 (GRCm39)	A1273E	probably damaging	Het
Dsg1c	T	C	18: 20,416,703 (GRCm39)	V868A	possibly damaging	Het
Dtx4	A	G	19: 12,462,626 (GRCm39)		probably null	Het
Elovl4	A	G	9: 83,672,154 (GRCm39)	L55P	possibly damaging	Het
Fbxo40	T	A	16: 36,789,914 (GRCm39)	T399S	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm14399	T	C	2: 174,973,371 (GRCm39)	E96G	probably damaging	Het
Gm14496	T	G	2: 181,642,147 (GRCm39)	V606G	probably benign	Het
Gpr156	A	G	16: 37,826,087 (GRCm39)	E768G	probably damaging	Het
Grm5	A	T	7: 87,723,704 (GRCm39)	T665S	probably damaging	Het
Hsdl2	A	G	4: 59,592,301 (GRCm39)		probably benign	Het
Htt	T	C	5: 35,064,928 (GRCm39)	V3047A	possibly damaging	Het
Igkv3-2	A	T	6: 70,676,011 (GRCm39)	T107S	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itih2	T	A	2: 10,101,272 (GRCm39)	T899S	probably benign	Het
Lhcgr	T	A	17: 89,050,281 (GRCm39)	Y415F	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med4	C	A	14: 73,747,553 (GRCm39)	S18*	probably null	Het
Nefl	T	C	14: 68,322,088 (GRCm39)	V226A	probably damaging	Het
Nploc4	T	A	11: 120,275,389 (GRCm39)	N516Y	probably damaging	Het
Or1o4	A	G	17: 37,590,501 (GRCm39)	V270A	probably benign	Het
Or6c66	A	T	10: 129,461,601 (GRCm39)	F110I	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdha3	T	G	18: 37,079,752 (GRCm39)	L165V	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,099 (GRCm39)	V415D	probably damaging	Het
Pcdhga10	T	C	18: 37,880,503 (GRCm39)	I88T	probably damaging	Het
Pigyl	T	A	9: 22,069,292 (GRCm39)	M1K	probably null	Het
Prr27	T	C	5: 87,991,203 (GRCm39)	S272P	probably damaging	Het
Prss3	C	T	6: 41,350,780 (GRCm39)	D237N	probably benign	Het
Pstpip2	A	G	18: 77,958,078 (GRCm39)	D150G	probably damaging	Het
Robo4	T	A	9: 37,324,674 (GRCm39)	D909E	probably benign	Het
Serpinb3c	A	T	1: 107,204,661 (GRCm39)	Y28*	probably null	Het
Slc26a3	T	C	12: 31,500,980 (GRCm39)		probably null	Het
Slc6a1	A	T	6: 114,279,493 (GRCm39)	I91F	probably benign	Het
Smcr8	T	G	11: 60,669,118 (GRCm39)	Y89D	probably damaging	Het
Sspo	T	A	6: 48,443,247 (GRCm39)	M1898K	probably benign	Het
Tbl1xr1	T	A	3: 22,246,233 (GRCm39)	I251K	probably damaging	Het
Thbs4	C	T	13: 92,913,501 (GRCm39)	D140N	probably benign	Het
Tmbim6	G	A	15: 99,303,633 (GRCm39)	A108T	probably benign	Het
Trim10	T	G	17: 37,186,328 (GRCm39)	L301R	probably benign	Het
Vmn2r9	T	A	5: 108,995,929 (GRCm39)	I240F	probably damaging	Het
Xpot	T	A	10: 121,436,765 (GRCm39)	I873F	possibly damaging	Het
Zfhx4	G	A	3: 5,464,267 (GRCm39)	S1475N	probably damaging	Het
Zfp712	A	G	13: 67,189,079 (GRCm39)	S483P	possibly damaging	Het
Zswim7	A	T	11: 62,158,373 (GRCm39)	H122Q	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
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'- TGGAATACTGCTTCAGTTCCTC -3'
(R):5'- TAAGATGCTGGAGGTGAGATCCC -3'

Sequencing Primer
(F):5'- GAAGTATCATCTACCAGGTCACTCTG -3'
(R):5'- AGGTGAGATCCCAGCCTCTTC -3'

Posted On

2016-08-04