Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01124:Trpm2'

52133

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpm2

Ensembl Gene

ENSMUSG00000009292

Gene Name

transient receptor potential cation channel, subfamily M, member 2

Synonyms

LTRPC2, 9830168K16Rik, TRPC7, Trrp7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

IGL01124

Quality Score

Status

Chromosome

Chromosomal Location

77907722-77970563 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 77945825 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000105401

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292

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

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 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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	T	C	10: 50,732,473 (GRCm38)	I1477T	probably damaging	Het
Baat	A	G	4: 49,490,391 (GRCm38)	I231T	possibly damaging	Het
Cactin	T	C	10: 81,324,350 (GRCm38)	S426P	possibly damaging	Het
Cfh	A	T	1: 140,183,261 (GRCm38)	F6I	probably benign	Het
Clec4a2	C	T	6: 123,139,078 (GRCm38)		probably benign	Het
Col12a1	A	G	9: 79,703,847 (GRCm38)	S148P	probably damaging	Het
Cubn	G	T	2: 13,478,093 (GRCm38)	Q281K	possibly damaging	Het
Cyp2c65	T	A	19: 39,093,510 (GRCm38)		probably benign	Het
Dennd4b	A	T	3: 90,269,074 (GRCm38)	T243S	possibly damaging	Het
Epha8	C	T	4: 136,936,083 (GRCm38)	G518D	probably damaging	Het
Fmo3	G	A	1: 162,958,261 (GRCm38)	R387C	probably damaging	Het
Foxo6	T	C	4: 120,269,152 (GRCm38)	T149A	probably benign	Het
Fthl17d	T	C	X: 8,986,588 (GRCm38)	E3G	probably benign	Het
Gm10521	A	G	1: 171,896,443 (GRCm38)	Y107C	unknown	Het
Ipo8	T	A	6: 148,777,376 (GRCm38)	E908V	probably benign	Het
Kcnd2	T	C	6: 21,217,217 (GRCm38)	S307P	probably damaging	Het
Klf3	A	G	5: 64,816,780 (GRCm38)	M3V	possibly damaging	Het
Ldb3	T	A	14: 34,544,200 (GRCm38)	E417D	probably damaging	Het
Lrch1	A	T	14: 74,757,063 (GRCm38)	D673E	probably benign	Het
Map3k4	T	C	17: 12,255,200 (GRCm38)	K865E	probably benign	Het
Muc4	G	A	16: 32,768,730 (GRCm38)	V754I	possibly damaging	Het
Nek4	A	G	14: 30,970,262 (GRCm38)	N223D	probably benign	Het
Nell2	G	A	15: 95,296,179 (GRCm38)	T551M	probably damaging	Het
Nup155	T	A	15: 8,153,679 (GRCm38)	M1241K	probably damaging	Het
Olfr152	T	C	2: 87,783,376 (GRCm38)	F279L	probably benign	Het
Olfr331	A	T	11: 58,502,194 (GRCm38)	S121T	possibly damaging	Het
Orc1	T	C	4: 108,588,787 (GRCm38)		probably benign	Het
Pclo	T	C	5: 14,714,329 (GRCm38)	I4272T	unknown	Het
Ppp1r12c	A	G	7: 4,497,345 (GRCm38)		probably benign	Het
Prcp	A	G	7: 92,910,208 (GRCm38)	E160G	probably benign	Het
Prl3d3	G	A	13: 27,159,107 (GRCm38)	R92Q	possibly damaging	Het
Prl6a1	T	A	13: 27,316,364 (GRCm38)	M106K	possibly damaging	Het
Slc22a1	T	A	17: 12,650,862 (GRCm38)		probably benign	Het
Slco3a1	A	G	7: 74,284,547 (GRCm38)	Y626H	probably damaging	Het
Smtn	A	G	11: 3,526,326 (GRCm38)		probably null	Het
Snx30	T	C	4: 59,886,404 (GRCm38)		probably benign	Het
Spock2	A	G	10: 60,131,387 (GRCm38)	D393G	unknown	Het
Trem3	T	G	17: 48,249,801 (GRCm38)	L100R	probably damaging	Het
Ubr1	T	C	2: 120,914,905 (GRCm38)	M901V	probably benign	Het
Usp28	T	A	9: 49,037,213 (GRCm38)	S873T	probably damaging	Het
Vmn1r86	T	C	7: 13,102,929 (GRCm38)	I7V	probably benign	Het
Xirp2	T	C	2: 67,508,615 (GRCm38)	L400P	probably damaging	Het

Other mutations in Trpm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Trpm2	APN	10	77,942,915 (GRCm38)	splice site	probably null
IGL00773:Trpm2	APN	10	77,949,214 (GRCm38)	nonsense	probably null
IGL00962:Trpm2	APN	10	77,943,916 (GRCm38)	splice site	probably benign
IGL01093:Trpm2	APN	10	77,932,280 (GRCm38)	missense	probably benign	0.04
IGL01301:Trpm2	APN	10	77,923,984 (GRCm38)	missense	probably damaging	1.00
IGL02094:Trpm2	APN	10	77,942,996 (GRCm38)	nonsense	probably null
IGL02175:Trpm2	APN	10	77,937,907 (GRCm38)	missense	probably benign	0.07
IGL02653:Trpm2	APN	10	77,912,669 (GRCm38)	missense	probably benign	0.19
IGL02667:Trpm2	APN	10	77,935,942 (GRCm38)	missense	probably damaging	1.00
IGL02668:Trpm2	APN	10	77,935,942 (GRCm38)	missense	probably damaging	1.00
IGL02828:Trpm2	APN	10	77,918,986 (GRCm38)	missense	probably benign	0.16
IGL02951:Trpm2	APN	10	77,929,278 (GRCm38)	missense	possibly damaging	0.95
IGL03188:Trpm2	APN	10	77,918,909 (GRCm38)	missense	probably benign	0.18
IGL03242:Trpm2	APN	10	77,917,734 (GRCm38)	missense	probably benign
IGL03405:Trpm2	APN	10	77,966,072 (GRCm38)	splice site	probably benign
Fugit	UTSW	10	77,938,368 (GRCm38)	missense	probably damaging	1.00
scusate	UTSW	10	77,966,994 (GRCm38)	nonsense	probably null
temporal	UTSW	10	77,925,682 (GRCm38)	missense	probably benign	0.30
ANU18:Trpm2	UTSW	10	77,923,984 (GRCm38)	missense	probably damaging	1.00
R0147:Trpm2	UTSW	10	77,925,825 (GRCm38)	missense	probably damaging	1.00
R0148:Trpm2	UTSW	10	77,925,825 (GRCm38)	missense	probably damaging	1.00
R0302:Trpm2	UTSW	10	77,943,990 (GRCm38)	splice site	probably benign
R0332:Trpm2	UTSW	10	77,947,988 (GRCm38)	missense	probably damaging	1.00
R0586:Trpm2	UTSW	10	77,923,516 (GRCm38)	missense	probably damaging	0.99
R0847:Trpm2	UTSW	10	77,929,288 (GRCm38)	missense	possibly damaging	0.94
R1183:Trpm2	UTSW	10	77,923,564 (GRCm38)	missense	probably damaging	1.00
R1472:Trpm2	UTSW	10	77,966,007 (GRCm38)	missense	probably damaging	1.00
R1510:Trpm2	UTSW	10	77,966,994 (GRCm38)	nonsense	probably null
R1518:Trpm2	UTSW	10	77,943,005 (GRCm38)	missense	possibly damaging	0.67
R1564:Trpm2	UTSW	10	77,942,999 (GRCm38)	missense	probably benign	0.14
R1593:Trpm2	UTSW	10	77,943,076 (GRCm38)	missense	possibly damaging	0.71
R1617:Trpm2	UTSW	10	77,935,875 (GRCm38)	splice site	probably null
R1673:Trpm2	UTSW	10	77,942,944 (GRCm38)	missense	probably benign
R1912:Trpm2	UTSW	10	77,945,876 (GRCm38)	missense	probably benign	0.10
R1932:Trpm2	UTSW	10	77,941,158 (GRCm38)	missense	probably damaging	1.00
R1993:Trpm2	UTSW	10	77,947,989 (GRCm38)	missense	probably damaging	1.00
R2013:Trpm2	UTSW	10	77,925,766 (GRCm38)	missense	probably damaging	1.00
R2151:Trpm2	UTSW	10	77,932,179 (GRCm38)	missense	probably benign	0.01
R2201:Trpm2	UTSW	10	77,920,471 (GRCm38)	nonsense	probably null
R2217:Trpm2	UTSW	10	77,941,182 (GRCm38)	missense	probably damaging	1.00
R2312:Trpm2	UTSW	10	77,918,964 (GRCm38)	missense	probably benign	0.04
R2339:Trpm2	UTSW	10	77,914,806 (GRCm38)	splice site	probably benign
R2395:Trpm2	UTSW	10	77,947,880 (GRCm38)	missense	possibly damaging	0.69
R2396:Trpm2	UTSW	10	77,930,637 (GRCm38)	missense	probably benign	0.14
R2405:Trpm2	UTSW	10	77,934,724 (GRCm38)	missense	probably damaging	1.00
R2567:Trpm2	UTSW	10	77,941,174 (GRCm38)	missense	probably damaging	0.99
R3001:Trpm2	UTSW	10	77,930,534 (GRCm38)	critical splice donor site	probably null
R3002:Trpm2	UTSW	10	77,930,534 (GRCm38)	critical splice donor site	probably null
R3125:Trpm2	UTSW	10	77,911,374 (GRCm38)	missense	probably damaging	1.00
R3500:Trpm2	UTSW	10	77,932,302 (GRCm38)	missense	probably benign	0.03
R3777:Trpm2	UTSW	10	77,935,990 (GRCm38)	missense	probably benign	0.13
R3778:Trpm2	UTSW	10	77,935,990 (GRCm38)	missense	probably benign	0.13
R4272:Trpm2	UTSW	10	77,933,642 (GRCm38)	missense	probably damaging	1.00
R4384:Trpm2	UTSW	10	77,917,725 (GRCm38)	missense	probably benign	0.44
R4395:Trpm2	UTSW	10	77,929,219 (GRCm38)	missense	probably benign	0.01
R4423:Trpm2	UTSW	10	77,935,068 (GRCm38)	missense	probably benign	0.00
R4452:Trpm2	UTSW	10	77,923,593 (GRCm38)	missense	probably damaging	1.00
R4612:Trpm2	UTSW	10	77,945,916 (GRCm38)	missense	probably damaging	0.99
R4662:Trpm2	UTSW	10	77,938,138 (GRCm38)	missense	probably benign	0.05
R4825:Trpm2	UTSW	10	77,941,173 (GRCm38)	missense	probably damaging	0.98
R4906:Trpm2	UTSW	10	77,932,189 (GRCm38)	nonsense	probably null
R4943:Trpm2	UTSW	10	77,966,007 (GRCm38)	missense	probably damaging	1.00
R4948:Trpm2	UTSW	10	77,917,792 (GRCm38)	missense	probably benign	0.34
R5046:Trpm2	UTSW	10	77,966,018 (GRCm38)	missense	probably damaging	1.00
R5320:Trpm2	UTSW	10	77,923,521 (GRCm38)	missense	probably benign	0.06
R5523:Trpm2	UTSW	10	77,935,961 (GRCm38)	missense	probably benign	0.04
R5562:Trpm2	UTSW	10	77,959,939 (GRCm38)	missense	possibly damaging	0.71
R5623:Trpm2	UTSW	10	77,932,139 (GRCm38)	missense	probably damaging	0.96
R5628:Trpm2	UTSW	10	77,912,636 (GRCm38)	missense	probably benign	0.00
R5633:Trpm2	UTSW	10	77,938,353 (GRCm38)	missense	possibly damaging	0.71
R5817:Trpm2	UTSW	10	77,965,980 (GRCm38)	missense	probably damaging	1.00
R5989:Trpm2	UTSW	10	77,959,900 (GRCm38)	missense	probably damaging	1.00
R6018:Trpm2	UTSW	10	77,917,713 (GRCm38)	missense	probably benign	0.00
R6075:Trpm2	UTSW	10	77,935,043 (GRCm38)	critical splice donor site	probably null
R6092:Trpm2	UTSW	10	77,925,682 (GRCm38)	missense	probably benign	0.30
R6309:Trpm2	UTSW	10	77,938,368 (GRCm38)	missense	probably damaging	1.00
R6327:Trpm2	UTSW	10	77,932,227 (GRCm38)	missense	probably damaging	1.00
R6568:Trpm2	UTSW	10	77,937,826 (GRCm38)	missense	probably benign	0.01
R6579:Trpm2	UTSW	10	77,937,826 (GRCm38)	missense	probably benign	0.01
R6640:Trpm2	UTSW	10	77,937,826 (GRCm38)	missense	probably benign	0.01
R6642:Trpm2	UTSW	10	77,937,826 (GRCm38)	missense	probably benign	0.01
R6798:Trpm2	UTSW	10	77,914,740 (GRCm38)	missense	probably damaging	0.99
R6999:Trpm2	UTSW	10	77,935,891 (GRCm38)	missense	probably damaging	1.00
R7034:Trpm2	UTSW	10	77,912,592 (GRCm38)	missense	probably benign
R7036:Trpm2	UTSW	10	77,912,592 (GRCm38)	missense	probably benign
R7113:Trpm2	UTSW	10	77,947,931 (GRCm38)	missense	probably damaging	0.96
R7171:Trpm2	UTSW	10	77,924,014 (GRCm38)	missense	probably damaging	1.00
R7240:Trpm2	UTSW	10	77,935,876 (GRCm38)	critical splice donor site	probably null
R7274:Trpm2	UTSW	10	77,923,555 (GRCm38)	missense	probably benign	0.00
R7379:Trpm2	UTSW	10	77,914,734 (GRCm38)	missense	probably benign
R7527:Trpm2	UTSW	10	77,966,060 (GRCm38)	missense	probably benign	0.01
R7571:Trpm2	UTSW	10	77,937,950 (GRCm38)	missense	probably benign	0.21
R7600:Trpm2	UTSW	10	77,938,051 (GRCm38)	missense	probably benign	0.02
R7727:Trpm2	UTSW	10	77,925,789 (GRCm38)	missense	probably benign	0.34
R7771:Trpm2	UTSW	10	77,932,179 (GRCm38)	missense	probably benign	0.01
R7844:Trpm2	UTSW	10	77,923,506 (GRCm38)	missense	probably benign	0.00
R8158:Trpm2	UTSW	10	77,947,897 (GRCm38)	missense	probably damaging	0.99
R8225:Trpm2	UTSW	10	77,947,973 (GRCm38)	missense	probably damaging	1.00
R8226:Trpm2	UTSW	10	77,947,973 (GRCm38)	missense	probably damaging	1.00
R8239:Trpm2	UTSW	10	77,936,002 (GRCm38)	missense	probably benign	0.06
R8275:Trpm2	UTSW	10	77,966,025 (GRCm38)	nonsense	probably null
R8340:Trpm2	UTSW	10	77,923,624 (GRCm38)	nonsense	probably null
R8354:Trpm2	UTSW	10	77,933,649 (GRCm38)	missense	probably damaging	1.00
R8427:Trpm2	UTSW	10	77,911,402 (GRCm38)	missense	possibly damaging	0.93
R8445:Trpm2	UTSW	10	77,910,252 (GRCm38)	missense	probably damaging	1.00
R8769:Trpm2	UTSW	10	77,932,294 (GRCm38)	missense	probably benign	0.00
R9144:Trpm2	UTSW	10	77,929,288 (GRCm38)	missense	probably benign	0.01
R9286:Trpm2	UTSW	10	77,941,180 (GRCm38)	missense	probably benign	0.06
R9319:Trpm2	UTSW	10	77,949,198 (GRCm38)	missense	probably damaging	1.00
R9319:Trpm2	UTSW	10	77,942,942 (GRCm38)	nonsense	probably null
R9381:Trpm2	UTSW	10	77,911,357 (GRCm38)	missense	possibly damaging	0.90
R9457:Trpm2	UTSW	10	77,911,392 (GRCm38)	missense	possibly damaging	0.82
R9477:Trpm2	UTSW	10	77,911,390 (GRCm38)	missense	probably benign	0.12
R9547:Trpm2	UTSW	10	77,912,633 (GRCm38)	missense	probably benign	0.33
R9660:Trpm2	UTSW	10	77,930,555 (GRCm38)	missense	probably benign	0.00
R9663:Trpm2	UTSW	10	77,920,486 (GRCm38)	missense	probably benign	0.01
Z1177:Trpm2	UTSW	10	77,937,868 (GRCm38)	missense	possibly damaging	0.94

Posted On

2013-06-21