Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:Trpm7'

298160

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

126633485-126718150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126682699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 390 (D390V)

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 damaging
Transcript: ENSMUST00000028843
AA Change: D390V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028843
Gene: ENSMUSG00000027365
AA Change: D390V

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 damaging
Transcript: ENSMUST00000103224
AA Change: D390V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099513
Gene: ENSMUSG00000027365
AA Change: D390V

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: ENSMUST00000134408

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,145 (GRCm39)	L178S	probably damaging	Het
Abca12	A	G	1: 71,333,906 (GRCm39)	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Apc	T	A	18: 34,446,035 (GRCm39)	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,235,324 (GRCm39)	L566Q	probably damaging	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Astn1	C	T	1: 158,332,965 (GRCm39)	S349F	possibly damaging	Het
Bard1	T	C	1: 71,104,815 (GRCm39)		probably benign	Het
Batf2	T	A	19: 6,221,537 (GRCm39)	Y116N	probably benign	Het
Bltp3b	T	A	10: 89,642,605 (GRCm39)	L10*	probably null	Het
Cbx6	T	C	15: 79,713,094 (GRCm39)	H111R	probably damaging	Het
Cd44	T	A	2: 102,679,076 (GRCm39)	N242I	probably benign	Het
Cdnf	C	T	2: 3,525,012 (GRCm39)	Q184*	probably null	Het
Chd2	C	A	7: 73,097,068 (GRCm39)		probably benign	Het
Cmtm6	G	A	9: 114,566,374 (GRCm39)	V88M	probably damaging	Het
Col24a1	C	A	3: 145,179,962 (GRCm39)	S1151R	possibly damaging	Het
Csta2	A	G	16: 36,073,459 (GRCm39)	E15G	probably damaging	Het
Degs1l	T	A	1: 180,882,463 (GRCm39)	V75E	possibly damaging	Het
Dnajc2	T	C	5: 21,988,061 (GRCm39)	D6G	probably damaging	Het
Eif3a	G	A	19: 60,751,664 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,254,633 (GRCm39)	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,523,286 (GRCm39)	D1380E	probably damaging	Het
Fry	A	T	5: 150,304,375 (GRCm39)	K588N	probably damaging	Het
Gm18856	G	A	13: 14,139,805 (GRCm39)		probably benign	Het
Gpr37	G	T	6: 25,688,686 (GRCm39)	T137K	probably benign	Het
Gzmc	T	C	14: 56,472,039 (GRCm39)	M1V	probably null	Het
Htr5a	T	C	5: 28,047,958 (GRCm39)	V171A	probably benign	Het
Ints6l	T	C	X: 55,500,557 (GRCm39)		probably benign	Het
Kcnma1	C	T	14: 23,436,327 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,983,899 (GRCm39)	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,063,057 (GRCm39)	V668I	possibly damaging	Het
Nlrp1b	C	T	11: 71,072,878 (GRCm39)	V322I	possibly damaging	Het
Ntf3	T	C	6: 126,078,823 (GRCm39)	N228D	probably damaging	Het
Nup133	G	A	8: 124,655,994 (GRCm39)	R496W	possibly damaging	Het
Or4c10	T	C	2: 89,760,903 (GRCm39)	V250A	probably benign	Het
Or51i1	C	A	7: 103,671,463 (GRCm39)	G21W	probably damaging	Het
Pah	C	T	10: 87,414,707 (GRCm39)		probably benign	Het
Pan2	G	T	10: 128,154,896 (GRCm39)	W1112L	probably damaging	Het
Pkn3	G	A	2: 29,970,879 (GRCm39)	R209Q	probably damaging	Het
Plaa	C	T	4: 94,470,717 (GRCm39)		probably null	Het
Qprt	C	T	7: 126,708,027 (GRCm39)	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,582,204 (GRCm39)	S108A	probably damaging	Het
Smg1	T	A	7: 117,795,117 (GRCm39)		probably benign	Het
Spink5	T	A	18: 44,125,235 (GRCm39)	C368S	possibly damaging	Het
Sptan1	T	A	2: 29,908,486 (GRCm39)	I1734N	probably damaging	Het
Stk38l	C	T	6: 146,669,031 (GRCm39)	L170F	probably damaging	Het
Tesmin	C	T	19: 3,452,483 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,949,530 (GRCm39)	C1697*	probably null	Het
Tmco4	T	C	4: 138,785,690 (GRCm39)	S587P	probably benign	Het
Tmem208	G	A	8: 106,055,329 (GRCm39)		probably null	Het
Trim30d	T	C	7: 104,121,623 (GRCm39)	Q224R	probably damaging	Het
Uba7	A	G	9: 107,858,589 (GRCm39)	I807V	probably benign	Het
Utp18	C	A	11: 93,759,160 (GRCm39)	C438F	probably damaging	Het
Vps13d	T	C	4: 144,899,707 (GRCm39)	K191E	possibly damaging	Het
Wdr27	A	G	17: 15,146,453 (GRCm39)	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	probably 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
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
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

Posted On

2015-04-16