Mutagenetix > Incidental Mutation

Incidental Mutation 'R8158:Trpm2'

633379

Institutional Source

Beutler Lab

Gene Symbol

Trpm2

Ensembl Gene

ENSMUSG00000009292

Gene Name

transient receptor potential cation channel, subfamily M, member 2

Synonyms

LTRPC2, 9830168K16Rik, TRPC7, Trrp7

MMRRC Submission

067584-MU

Accession Numbers

Essential gene?

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

Stock #

R8158 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77907722-77970563 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 77947897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 247 (H247Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101040 (fasta)

Gene Model

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

AlphaFold

Q91YD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000105401
AA Change: H247Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: H247Q

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	T	A	8: 11,665,056	D46V	probably damaging	Het
Abl2	T	A	1: 156,642,069	S968T	probably benign	Het
Adcy8	T	C	15: 64,783,806	D608G	probably benign	Het
Adgb	C	T	10: 10,378,734	V1162M	probably benign	Het
Agrn	A	G	4: 156,173,889	V1040A	probably benign	Het
Amer3	A	T	1: 34,587,660	T327S	possibly damaging	Het
Apaf1	C	T	10: 91,059,658	C426Y	probably benign	Het
Bsn	T	C	9: 108,110,033	D2840G	unknown	Het
Camsap1	A	T	2: 25,944,428	C406*	probably null	Het
Cbr2	A	T	11: 120,730,297	M158K	probably damaging	Het
Ccdc105	G	C	10: 78,748,675	Q338E	probably benign	Het
Cgrrf1	T	C	14: 46,853,735	S239P	probably benign	Het
Clnk	C	A	5: 38,794,911		probably null	Het
Csad	T	C	15: 102,177,762	M445V	probably damaging	Het
Dnajb7	T	A	15: 81,407,399	N246Y	probably damaging	Het
Dok6	T	C	18: 89,473,947	I169V	probably benign	Het
Hist1h2bm	T	C	13: 21,722,461	Y122H	probably benign	Het
Il1f10	T	G	2: 24,291,255	I11R	possibly damaging	Het
Irs1	C	T	1: 82,289,533	V321M	probably damaging	Het
Itga9	T	C	9: 118,877,143	F938L	probably damaging	Het
Kif7	T	C	7: 79,704,694	D781G	probably damaging	Het
Klhl41	A	T	2: 69,671,161	N322I	probably damaging	Het
Krtap31-1	T	G	11: 99,908,075	C35G	possibly damaging	Het
Lsm11	A	T	11: 45,933,997	D234E	probably benign	Het
Med6	T	C	12: 81,573,903	K223R	probably benign	Het
Mfsd4b2	G	A	10: 39,922,068	T97I	probably benign	Het
Mrgpra1	A	T	7: 47,335,456	C158*	probably null	Het
Nr2e1	T	C	10: 42,582,885	T8A	probably benign	Het
Oas2	T	C	5: 120,749,773	M1V	probably null	Het
Olfr1048	T	C	2: 86,236,160	Y218C	probably damaging	Het
Olfr1132	T	A	2: 87,634,889	N286I	probably damaging	Het
Olfr307	T	A	7: 86,335,677	I240F	probably benign	Het
Olfr393	T	A	11: 73,847,871	M85L	probably benign	Het
Olfr60	T	C	7: 140,345,249	I247V	probably benign	Het
Otof	C	T	5: 30,380,194	G1257D	probably benign	Het
Phf2	T	C	13: 48,817,760	T479A	probably benign	Het
Pik3c2a	T	C	7: 116,342,997	N1516S	probably benign	Het
Qrich1	C	A	9: 108,556,037	T622K	probably damaging	Het
Rasip1	A	G	7: 45,632,519	K482R	probably damaging	Het
Rgl2	T	C	17: 33,936,944	F698L	probably benign	Het
Scarb1	T	C	5: 125,303,137	D124G	probably benign	Het
Sclt1	A	G	3: 41,671,482	I350T	probably benign	Het
Sec23ip	T	G	7: 128,767,640	V696G	probably damaging	Het
Serpina1e	G	T	12: 103,951,095	T105K	probably benign	Het
Sin3a	A	G	9: 57,113,544		probably null	Het
Slc34a2	A	G	5: 53,060,840	T154A	probably damaging	Het
Slc9a3	T	C	13: 74,155,122	L178P	probably damaging	Het
Smarca2	A	C	19: 26,682,048	I913L	probably benign	Het
Tcea3	G	A	4: 136,273,716		probably null	Het
Tmcc1	T	A	6: 116,043,474	H339L		Het
Tyr	T	A	7: 87,472,516	D356V	probably damaging	Het
Vmn2r54	A	T	7: 12,615,961	C565S	probably damaging	Het
Vmn2r82	A	C	10: 79,377,802	N74T	probably benign	Het
Zcchc4	T	C	5: 52,815,918	Y375H	probably damaging	Het
Zfhx3	T	A	8: 108,948,721	D2134E	possibly damaging	Het
Zfhx4	T	A	3: 5,398,950	Y1414*	probably null	Het
Zfp282	A	T	6: 47,890,692	E267D	possibly damaging	Het
Zfp442	A	T	2: 150,409,176	C269S	possibly damaging	Het
Zp3	T	A	5: 135,985,564	S246T	probably benign	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
IGL01124:Trpm2	APN	10	77,945,825 (GRCm38)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGGATGTAGTTATAACCAGCAC -3'
(R):5'- CATTGGAACCTGGAAGCATG -3'

Sequencing Primer
(F):5'- ACAGTCAGTCGGTGTTCAC -3'
(R):5'- AAGCATGGCCCGTCTCTC -3'

Posted On

2020-06-30