Mutagenetix > Incidental Mutation

Incidental Mutation 'R6044:Trpm7'

483698

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

044212-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6044 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126633485-126718150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126656665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1184 (E1184G)

Ref Sequence

ENSEMBL: ENSMUSP00000028843 (fasta)

Gene Model

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

AlphaFold

Q923J1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028843
AA Change: E1184G

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

SMART Domains

Protein: ENSMUSP00000028843
Gene: ENSMUSG00000027365
AA Change: E1184G

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: E1184G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099513
Gene: ENSMUSG00000027365
AA Change: E1184G

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: ENSMUST00000142334

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Adamts20	A	T	15: 94,180,364 (GRCm39)	Y1764N	probably damaging	Het
Adamtsl1	A	T	4: 86,130,928 (GRCm39)	D223V	probably damaging	Het
Agbl1	T	C	7: 75,967,868 (GRCm39)	V31A	possibly damaging	Het
Alk	T	C	17: 72,299,095 (GRCm39)	H462R	probably benign	Het
Amt	A	T	9: 108,174,450 (GRCm39)	T72S	probably damaging	Het
Atp12a	T	A	14: 56,613,612 (GRCm39)	D461E	probably damaging	Het
Bcan	C	A	3: 87,902,950 (GRCm39)	C276F	probably damaging	Het
Crispld2	T	C	8: 120,737,410 (GRCm39)	S54P	possibly damaging	Het
Cyp11a1	A	T	9: 57,933,987 (GRCm39)	N478I	probably damaging	Het
Des	A	T	1: 75,340,113 (GRCm39)		probably null	Het
Dnajc6	A	T	4: 101,473,774 (GRCm39)	I427F	probably benign	Het
Eml4	T	G	17: 83,753,379 (GRCm39)	L281R	probably damaging	Het
Fam186a	T	C	15: 99,839,878 (GRCm39)	Y2122C	probably damaging	Het
Fndc11	T	A	2: 180,863,459 (GRCm39)	L88Q	probably damaging	Het
Foxo1	A	G	3: 52,253,258 (GRCm39)	M474V	probably benign	Het
Gap43	A	T	16: 42,112,550 (GRCm39)	D70E	probably benign	Het
Gemin4	T	C	11: 76,103,760 (GRCm39)	M334V	probably benign	Het
Gm973	T	C	1: 59,667,393 (GRCm39)	L718P	probably benign	Het
Gprin3	G	T	6: 59,330,657 (GRCm39)	T550N	possibly damaging	Het
Hddc3	T	A	7: 79,993,332 (GRCm39)	V53E	probably benign	Het
Itpr2	A	T	6: 146,298,449 (GRCm39)	D12E	probably null	Het
Klri2	T	A	6: 129,717,247 (GRCm39)	E45D	probably damaging	Het
Lct	A	G	1: 128,235,717 (GRCm39)	V430A	possibly damaging	Het
Mcm8	T	C	2: 132,673,600 (GRCm39)		probably null	Het
Mmp12	A	G	9: 7,350,050 (GRCm39)	T184A	possibly damaging	Het
Morc3	T	C	16: 93,663,330 (GRCm39)	V511A	probably benign	Het
Mta2	T	C	19: 8,925,695 (GRCm39)	Y397H	probably damaging	Het
Naa50	G	A	16: 43,979,890 (GRCm39)	E93K	possibly damaging	Het
Or14j2	G	A	17: 37,885,426 (GRCm39)	T296M	probably damaging	Het
Or2t26	T	C	11: 49,039,522 (GRCm39)	V146A	probably benign	Het
Or4a77	T	A	2: 89,487,516 (GRCm39)	I90F	probably damaging	Het
Or4c126	T	C	2: 89,823,761 (GRCm39)	I8T	possibly damaging	Het
Or4k40	T	C	2: 111,250,423 (GRCm39)	N291S	probably damaging	Het
Padi4	A	G	4: 140,475,438 (GRCm39)	S576P	possibly damaging	Het
Poglut2	A	T	1: 44,153,611 (GRCm39)	L221*	probably null	Het
Prss47	A	T	13: 65,197,120 (GRCm39)	Y111*	probably null	Het
Ptprm	A	G	17: 67,000,857 (GRCm39)	V1100A	probably damaging	Het
Rab11fip3	G	A	17: 26,286,843 (GRCm39)	P437S	possibly damaging	Het
Rsph14	C	T	10: 74,867,102 (GRCm39)	D15N	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slco1a1	A	G	6: 141,885,743 (GRCm39)	V94A	probably benign	Het
Smpdl3a	A	G	10: 57,687,358 (GRCm39)	E362G	possibly damaging	Het
Sva	A	T	6: 42,017,034 (GRCm39)	Y47F	probably benign	Het
Tatdn3	A	G	1: 190,788,558 (GRCm39)		probably null	Het
Tlcd4	A	T	3: 121,001,018 (GRCm39)	I205K	probably damaging	Het
Tlcd5	A	G	9: 43,024,903 (GRCm39)	S18P	probably benign	Het
Tmem131	G	A	1: 36,920,422 (GRCm39)	Q93*	probably null	Het
Ubr1	T	C	2: 120,693,202 (GRCm39)	I1735V	probably benign	Het
Usp40	A	T	1: 87,917,872 (GRCm39)	I325K	probably benign	Het
Vmn2r27	T	G	6: 124,208,731 (GRCm39)	I5L	probably benign	Het
Wee1	C	T	7: 109,738,513 (GRCm39)	T542I	probably benign	Het
Wrn	G	A	8: 33,726,457 (GRCm39)	P1129S	probably damaging	Het
Zfyve16	G	A	13: 92,659,174 (GRCm39)	Q246*	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
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
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'- TGGAATTGACCCTCAGCACC -3'
(R):5'- TGTAGAGGGCCCCTGTTCAAATAG -3'

Sequencing Primer
(F):5'- GTCTGTAACAACAGTTCCAGAGTTCC -3'
(R):5'- GATAAATAAAAAGGCAACCGTGAAG -3'

Posted On

2017-07-14