Mutagenetix > Incidental Mutation

Incidental Mutation 'R0586:Trpm2'

55770

Institutional Source

Beutler Lab

Gene Symbol

Trpm2

Ensembl Gene

ENSMUSG00000009292

Gene Name

transient receptor potential cation channel, subfamily M, member 2

Synonyms

Trrp7, TRPC7, LTRPC2, 9830168K16Rik

MMRRC Submission

038776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R0586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77743556-77805746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77759350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1145 (I1145F)

Ref Sequence

ENSEMBL: ENSMUSP00000101040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105401]

AlphaFold

Q91YD4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105400

Predicted Effect

probably damaging
Transcript: ENSMUST00000105401
AA Change: I1145F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: I1145F

Domain	Start	End	E-Value	Type
low complexity region	654	672	N/A	INTRINSIC
transmembrane domain	750	772	N/A	INTRINSIC
Pfam:Ion_trans	794	1057	3.7e-21	PFAM
low complexity region	1078	1090	N/A	INTRINSIC
low complexity region	1106	1115	N/A	INTRINSIC
low complexity region	1123	1146	N/A	INTRINSIC
PDB:1QVJ\|A	1236	1506	3e-37	PDB
SCOP:d1k2ea_	1369	1502	9e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153842

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217806

Meta Mutation Damage Score

0.1881

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.5%
20x: 94.4%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired reactive oxygen species (ROS)-induced chemokine production in monocytes, and reduced neutrophil infiltration and ulceration in a dextran sulfate sodium-induced colitis inflammation model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,092,860 (GRCm39)	V308E	probably benign	Het
Amy1	A	G	3: 113,356,418 (GRCm39)		probably benign	Het
Astn2	C	T	4: 66,103,379 (GRCm39)	V345M	unknown	Het
Brwd1	T	C	16: 95,844,286 (GRCm39)	E756G	probably damaging	Het
Ccpg1	C	T	9: 72,909,103 (GRCm39)	L135F	probably benign	Het
Cecr2	C	T	6: 120,734,845 (GRCm39)	H694Y	probably damaging	Het
Cfh	G	A	1: 140,110,920 (GRCm39)	T14I	probably damaging	Het
Cfhr2	G	A	1: 139,741,172 (GRCm39)	R268*	probably null	Het
Clca3a1	T	A	3: 144,738,350 (GRCm39)	I53L	probably benign	Het
Clcn6	A	G	4: 148,123,206 (GRCm39)		probably benign	Het
Cnfn	C	T	7: 25,067,256 (GRCm39)	V98I	probably benign	Het
Cntnap1	C	T	11: 101,077,840 (GRCm39)	R1122W	probably damaging	Het
Cpne9	A	T	6: 113,272,024 (GRCm39)	E384V	probably damaging	Het
Ctr9	T	C	7: 110,648,705 (GRCm39)		probably benign	Het
Ctsj	T	A	13: 61,151,515 (GRCm39)		probably benign	Het
Cyp2c39	A	C	19: 39,501,934 (GRCm39)		probably benign	Het
Dock5	A	C	14: 68,046,481 (GRCm39)	I767S	probably damaging	Het
Eftud2	T	C	11: 102,737,446 (GRCm39)	T552A	probably damaging	Het
Epdr1	A	G	13: 19,778,715 (GRCm39)	I25T	probably damaging	Het
Fcgbp	A	T	7: 27,789,138 (GRCm39)	D568V	probably damaging	Het
Fcgbpl1	T	A	7: 27,836,516 (GRCm39)	V145D	probably damaging	Het
Fhip1b	T	C	7: 105,038,654 (GRCm39)	E195G	probably damaging	Het
Frem2	T	A	3: 53,555,342 (GRCm39)	T1732S	probably damaging	Het
Fuz	T	C	7: 44,547,982 (GRCm39)	V183A	possibly damaging	Het
Grb7	T	C	11: 98,344,046 (GRCm39)	S284P	probably damaging	Het
Hoxb4	G	T	11: 96,209,713 (GRCm39)	G40C	probably damaging	Het
Kcnn1	T	C	8: 71,316,513 (GRCm39)		probably benign	Het
Kmt2d	C	A	15: 98,733,088 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,203,732 (GRCm39)	V366A	unknown	Het
Ldlr	G	A	9: 21,651,040 (GRCm39)	R486H	probably benign	Het
Lnpep	A	T	17: 17,795,658 (GRCm39)		probably benign	Het
Mical3	A	T	6: 121,006,602 (GRCm39)		probably benign	Het
Myh15	T	C	16: 48,992,250 (GRCm39)		probably benign	Het
Nup155	T	A	15: 8,159,716 (GRCm39)	H542Q	probably benign	Het
Opn4	A	G	14: 34,320,930 (GRCm39)		probably benign	Het
Or13a20	T	C	7: 140,231,976 (GRCm39)	F28S	probably benign	Het
Or4a68	T	A	2: 89,269,698 (GRCm39)	R308S	possibly damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Or8g4	A	T	9: 39,662,414 (GRCm39)	H244L	probably damaging	Het
Or8h10	T	C	2: 86,809,126 (GRCm39)	N5D	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp14	T	C	16: 35,661,382 (GRCm39)	K1522R	probably benign	Het
Pkhd1	A	T	1: 20,594,335 (GRCm39)	D1259E	probably benign	Het
Pogz	C	T	3: 94,786,664 (GRCm39)	A1084V	probably damaging	Het
Popdc3	G	A	10: 45,191,359 (GRCm39)	V157M	probably benign	Het
Prrt4	T	C	6: 29,171,183 (GRCm39)	Y423C	probably damaging	Het
Qrich1	C	T	9: 108,411,719 (GRCm39)	H415Y	probably damaging	Het
Rabgap1	A	G	2: 37,433,235 (GRCm39)	N801D	probably benign	Het
Rb1	A	G	14: 73,525,124 (GRCm39)		probably benign	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Ryr2	T	C	13: 11,650,445 (GRCm39)	D356G	probably null	Het
Skint8	C	G	4: 111,794,126 (GRCm39)	P172R	probably damaging	Het
Slc12a8	T	G	16: 33,478,600 (GRCm39)	M643R	possibly damaging	Het
Sult1c2	A	T	17: 54,271,113 (GRCm39)		probably benign	Het
Tasor2	A	G	13: 3,640,321 (GRCm39)	L272P	probably damaging	Het
Tcaf1	T	A	6: 42,650,473 (GRCm39)	M869L	probably damaging	Het
Tecpr1	T	C	5: 144,154,219 (GRCm39)	N78S	probably damaging	Het
Tectb	A	T	19: 55,170,356 (GRCm39)	Y69F	probably damaging	Het
Them4	A	T	3: 94,237,101 (GRCm39)	N187I	possibly damaging	Het
Tm9sf3	A	G	19: 41,244,582 (GRCm39)		probably null	Het
Tnik	G	T	3: 28,631,510 (GRCm39)		probably benign	Het
Tns2	G	T	15: 102,018,020 (GRCm39)		probably benign	Het
Tnxb	A	G	17: 34,891,118 (GRCm39)	D487G	probably damaging	Het
Trim33	T	A	3: 103,217,660 (GRCm39)	C202S	probably damaging	Het
Trpv2	A	G	11: 62,483,596 (GRCm39)	T478A	probably benign	Het
Ube2e3	T	C	2: 78,750,334 (GRCm39)	Y187H	probably benign	Het
Ubxn11	A	G	4: 133,836,963 (GRCm39)	R64G	possibly damaging	Het
Wwtr1	T	C	3: 57,366,487 (GRCm39)	T407A	probably damaging	Het
Zfyve26	A	T	12: 79,315,502 (GRCm39)	S1325T	possibly damaging	Het

Other mutations in Trpm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Trpm2	APN	10	77,778,749 (GRCm39)	splice site	probably null
IGL00773:Trpm2	APN	10	77,785,048 (GRCm39)	nonsense	probably null
IGL00962:Trpm2	APN	10	77,779,750 (GRCm39)	splice site	probably benign
IGL01093:Trpm2	APN	10	77,768,114 (GRCm39)	missense	probably benign	0.04
IGL01124:Trpm2	APN	10	77,781,659 (GRCm39)	splice site	probably benign
IGL01301:Trpm2	APN	10	77,759,818 (GRCm39)	missense	probably damaging	1.00
IGL02094:Trpm2	APN	10	77,778,830 (GRCm39)	nonsense	probably null
IGL02175:Trpm2	APN	10	77,773,741 (GRCm39)	missense	probably benign	0.07
IGL02653:Trpm2	APN	10	77,748,503 (GRCm39)	missense	probably benign	0.19
IGL02667:Trpm2	APN	10	77,771,776 (GRCm39)	missense	probably damaging	1.00
IGL02668:Trpm2	APN	10	77,771,776 (GRCm39)	missense	probably damaging	1.00
IGL02828:Trpm2	APN	10	77,754,820 (GRCm39)	missense	probably benign	0.16
IGL02951:Trpm2	APN	10	77,765,112 (GRCm39)	missense	possibly damaging	0.95
IGL03188:Trpm2	APN	10	77,754,743 (GRCm39)	missense	probably benign	0.18
IGL03242:Trpm2	APN	10	77,753,568 (GRCm39)	missense	probably benign
IGL03405:Trpm2	APN	10	77,801,906 (GRCm39)	splice site	probably benign
Fugit	UTSW	10	77,774,202 (GRCm39)	missense	probably damaging	1.00
scusate	UTSW	10	77,802,828 (GRCm39)	nonsense	probably null
temporal	UTSW	10	77,761,516 (GRCm39)	missense	probably benign	0.30
ANU18:Trpm2	UTSW	10	77,759,818 (GRCm39)	missense	probably damaging	1.00
R0147:Trpm2	UTSW	10	77,761,659 (GRCm39)	missense	probably damaging	1.00
R0148:Trpm2	UTSW	10	77,761,659 (GRCm39)	missense	probably damaging	1.00
R0302:Trpm2	UTSW	10	77,779,824 (GRCm39)	splice site	probably benign
R0332:Trpm2	UTSW	10	77,783,822 (GRCm39)	missense	probably damaging	1.00
R0847:Trpm2	UTSW	10	77,765,122 (GRCm39)	missense	possibly damaging	0.94
R1183:Trpm2	UTSW	10	77,759,398 (GRCm39)	missense	probably damaging	1.00
R1472:Trpm2	UTSW	10	77,801,841 (GRCm39)	missense	probably damaging	1.00
R1510:Trpm2	UTSW	10	77,802,828 (GRCm39)	nonsense	probably null
R1518:Trpm2	UTSW	10	77,778,839 (GRCm39)	missense	possibly damaging	0.67
R1564:Trpm2	UTSW	10	77,778,833 (GRCm39)	missense	probably benign	0.14
R1593:Trpm2	UTSW	10	77,778,910 (GRCm39)	missense	possibly damaging	0.71
R1617:Trpm2	UTSW	10	77,771,709 (GRCm39)	splice site	probably null
R1673:Trpm2	UTSW	10	77,778,778 (GRCm39)	missense	probably benign
R1912:Trpm2	UTSW	10	77,781,710 (GRCm39)	missense	probably benign	0.10
R1932:Trpm2	UTSW	10	77,776,992 (GRCm39)	missense	probably damaging	1.00
R1993:Trpm2	UTSW	10	77,783,823 (GRCm39)	missense	probably damaging	1.00
R2013:Trpm2	UTSW	10	77,761,600 (GRCm39)	missense	probably damaging	1.00
R2151:Trpm2	UTSW	10	77,768,013 (GRCm39)	missense	probably benign	0.01
R2201:Trpm2	UTSW	10	77,756,305 (GRCm39)	nonsense	probably null
R2217:Trpm2	UTSW	10	77,777,016 (GRCm39)	missense	probably damaging	1.00
R2312:Trpm2	UTSW	10	77,754,798 (GRCm39)	missense	probably benign	0.04
R2339:Trpm2	UTSW	10	77,750,640 (GRCm39)	splice site	probably benign
R2395:Trpm2	UTSW	10	77,783,714 (GRCm39)	missense	possibly damaging	0.69
R2396:Trpm2	UTSW	10	77,766,471 (GRCm39)	missense	probably benign	0.14
R2405:Trpm2	UTSW	10	77,770,558 (GRCm39)	missense	probably damaging	1.00
R2567:Trpm2	UTSW	10	77,777,008 (GRCm39)	missense	probably damaging	0.99
R3001:Trpm2	UTSW	10	77,766,368 (GRCm39)	critical splice donor site	probably null
R3002:Trpm2	UTSW	10	77,766,368 (GRCm39)	critical splice donor site	probably null
R3125:Trpm2	UTSW	10	77,747,208 (GRCm39)	missense	probably damaging	1.00
R3500:Trpm2	UTSW	10	77,768,136 (GRCm39)	missense	probably benign	0.03
R3777:Trpm2	UTSW	10	77,771,824 (GRCm39)	missense	probably benign	0.13
R3778:Trpm2	UTSW	10	77,771,824 (GRCm39)	missense	probably benign	0.13
R4272:Trpm2	UTSW	10	77,769,476 (GRCm39)	missense	probably damaging	1.00
R4384:Trpm2	UTSW	10	77,753,559 (GRCm39)	missense	probably benign	0.44
R4395:Trpm2	UTSW	10	77,765,053 (GRCm39)	missense	probably benign	0.01
R4423:Trpm2	UTSW	10	77,770,902 (GRCm39)	missense	probably benign	0.00
R4452:Trpm2	UTSW	10	77,759,427 (GRCm39)	missense	probably damaging	1.00
R4612:Trpm2	UTSW	10	77,781,750 (GRCm39)	missense	probably damaging	0.99
R4662:Trpm2	UTSW	10	77,773,972 (GRCm39)	missense	probably benign	0.05
R4825:Trpm2	UTSW	10	77,777,007 (GRCm39)	missense	probably damaging	0.98
R4906:Trpm2	UTSW	10	77,768,023 (GRCm39)	nonsense	probably null
R4943:Trpm2	UTSW	10	77,801,841 (GRCm39)	missense	probably damaging	1.00
R4948:Trpm2	UTSW	10	77,753,626 (GRCm39)	missense	probably benign	0.34
R5046:Trpm2	UTSW	10	77,801,852 (GRCm39)	missense	probably damaging	1.00
R5320:Trpm2	UTSW	10	77,759,355 (GRCm39)	missense	probably benign	0.06
R5523:Trpm2	UTSW	10	77,771,795 (GRCm39)	missense	probably benign	0.04
R5562:Trpm2	UTSW	10	77,795,773 (GRCm39)	missense	possibly damaging	0.71
R5623:Trpm2	UTSW	10	77,767,973 (GRCm39)	missense	probably damaging	0.96
R5628:Trpm2	UTSW	10	77,748,470 (GRCm39)	missense	probably benign	0.00
R5633:Trpm2	UTSW	10	77,774,187 (GRCm39)	missense	possibly damaging	0.71
R5817:Trpm2	UTSW	10	77,801,814 (GRCm39)	missense	probably damaging	1.00
R5989:Trpm2	UTSW	10	77,795,734 (GRCm39)	missense	probably damaging	1.00
R6018:Trpm2	UTSW	10	77,753,547 (GRCm39)	missense	probably benign	0.00
R6075:Trpm2	UTSW	10	77,770,877 (GRCm39)	critical splice donor site	probably null
R6092:Trpm2	UTSW	10	77,761,516 (GRCm39)	missense	probably benign	0.30
R6309:Trpm2	UTSW	10	77,774,202 (GRCm39)	missense	probably damaging	1.00
R6327:Trpm2	UTSW	10	77,768,061 (GRCm39)	missense	probably damaging	1.00
R6568:Trpm2	UTSW	10	77,773,660 (GRCm39)	missense	probably benign	0.01
R6579:Trpm2	UTSW	10	77,773,660 (GRCm39)	missense	probably benign	0.01
R6640:Trpm2	UTSW	10	77,773,660 (GRCm39)	missense	probably benign	0.01
R6642:Trpm2	UTSW	10	77,773,660 (GRCm39)	missense	probably benign	0.01
R6798:Trpm2	UTSW	10	77,750,574 (GRCm39)	missense	probably damaging	0.99
R6999:Trpm2	UTSW	10	77,771,725 (GRCm39)	missense	probably damaging	1.00
R7034:Trpm2	UTSW	10	77,748,426 (GRCm39)	missense	probably benign
R7036:Trpm2	UTSW	10	77,748,426 (GRCm39)	missense	probably benign
R7113:Trpm2	UTSW	10	77,783,765 (GRCm39)	missense	probably damaging	0.96
R7171:Trpm2	UTSW	10	77,759,848 (GRCm39)	missense	probably damaging	1.00
R7240:Trpm2	UTSW	10	77,771,710 (GRCm39)	critical splice donor site	probably null
R7274:Trpm2	UTSW	10	77,759,389 (GRCm39)	missense	probably benign	0.00
R7379:Trpm2	UTSW	10	77,750,568 (GRCm39)	missense	probably benign
R7527:Trpm2	UTSW	10	77,801,894 (GRCm39)	missense	probably benign	0.01
R7571:Trpm2	UTSW	10	77,773,784 (GRCm39)	missense	probably benign	0.21
R7600:Trpm2	UTSW	10	77,773,885 (GRCm39)	missense	probably benign	0.02
R7727:Trpm2	UTSW	10	77,761,623 (GRCm39)	missense	probably benign	0.34
R7771:Trpm2	UTSW	10	77,768,013 (GRCm39)	missense	probably benign	0.01
R7844:Trpm2	UTSW	10	77,759,340 (GRCm39)	missense	probably benign	0.00
R8158:Trpm2	UTSW	10	77,783,731 (GRCm39)	missense	probably damaging	0.99
R8225:Trpm2	UTSW	10	77,783,807 (GRCm39)	missense	probably damaging	1.00
R8226:Trpm2	UTSW	10	77,783,807 (GRCm39)	missense	probably damaging	1.00
R8239:Trpm2	UTSW	10	77,771,836 (GRCm39)	missense	probably benign	0.06
R8275:Trpm2	UTSW	10	77,801,859 (GRCm39)	nonsense	probably null
R8340:Trpm2	UTSW	10	77,759,458 (GRCm39)	nonsense	probably null
R8354:Trpm2	UTSW	10	77,769,483 (GRCm39)	missense	probably damaging	1.00
R8427:Trpm2	UTSW	10	77,747,236 (GRCm39)	missense	possibly damaging	0.93
R8445:Trpm2	UTSW	10	77,746,086 (GRCm39)	missense	probably damaging	1.00
R8769:Trpm2	UTSW	10	77,768,128 (GRCm39)	missense	probably benign	0.00
R9144:Trpm2	UTSW	10	77,765,122 (GRCm39)	missense	probably benign	0.01
R9286:Trpm2	UTSW	10	77,777,014 (GRCm39)	missense	probably benign	0.06
R9319:Trpm2	UTSW	10	77,785,032 (GRCm39)	missense	probably damaging	1.00
R9319:Trpm2	UTSW	10	77,778,776 (GRCm39)	nonsense	probably null
R9381:Trpm2	UTSW	10	77,747,191 (GRCm39)	missense	possibly damaging	0.90
R9457:Trpm2	UTSW	10	77,747,226 (GRCm39)	missense	possibly damaging	0.82
R9477:Trpm2	UTSW	10	77,747,224 (GRCm39)	missense	probably benign	0.12
R9547:Trpm2	UTSW	10	77,748,467 (GRCm39)	missense	probably benign	0.33
R9660:Trpm2	UTSW	10	77,766,389 (GRCm39)	missense	probably benign	0.00
R9663:Trpm2	UTSW	10	77,756,320 (GRCm39)	missense	probably benign	0.01
Z1177:Trpm2	UTSW	10	77,773,702 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AAGACCGTTCTCACCATGTCACATC -3'
(R):5'- ATCTGGAATGAGCCAGTAGCTCCC -3'

Sequencing Primer
(F):5'- caccatcaccattaccaccc -3'
(R):5'- GTAATAGATCCTTTCCACGGGGC -3'

Posted On

2013-07-11