Mutagenetix > Incidental Mutation

Incidental Mutation 'R2217:Trpm2'

241219

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

040219-MU

Accession Numbers

Essential gene?

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

Stock #

R2217 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77907722-77970563 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77941182 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 427 (D427V)

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: D427V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: D427V

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

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 111,982,496 (GRCm38)	K232E	probably benign	Het
Apba1	T	C	19: 23,893,962 (GRCm38)	M386T	probably damaging	Het
Appl2	G	T	10: 83,608,737 (GRCm38)	F472L	possibly damaging	Het
Atxn2	T	C	5: 121,803,077 (GRCm38)	Y56H	probably damaging	Het
Cacna1c	T	C	6: 118,670,407 (GRCm38)	Y809C	probably damaging	Het
Canx	C	T	11: 50,310,867 (GRCm38)	V59I	probably benign	Het
Catsperb	T	C	12: 101,594,219 (GRCm38)	L823P	probably damaging	Het
Crb3	T	C	17: 57,065,090 (GRCm38)	S46P	probably benign	Het
Daam1	G	A	12: 71,989,827 (GRCm38)	R1058H	probably damaging	Het
Ehd1	T	A	19: 6,298,472 (GRCm38)	D493E	probably damaging	Het
Eml6	T	A	11: 29,818,907 (GRCm38)	Q746L	probably damaging	Het
Epg5	T	A	18: 77,949,072 (GRCm38)	M328K	probably benign	Het
Flt4	T	A	11: 49,624,728 (GRCm38)	S48T	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm7535	A	G	17: 17,911,674 (GRCm38)		probably benign	Het
Gpat4	G	A	8: 23,180,155 (GRCm38)	P286L	probably damaging	Het
Hmcn2	A	T	2: 31,350,574 (GRCm38)	T494S	probably benign	Het
Hydin	G	A	8: 110,418,506 (GRCm38)	V830I	probably benign	Het
Map3k6	T	A	4: 133,246,672 (GRCm38)	H487Q	possibly damaging	Het
Myh14	G	A	7: 44,634,376 (GRCm38)	P735S	probably damaging	Het
Nfkb2	T	C	19: 46,307,724 (GRCm38)		probably null	Het
Nlrp4c	T	C	7: 6,073,114 (GRCm38)	V671A	probably benign	Het
Nsrp1	A	T	11: 77,045,761 (GRCm38)	Y536*	probably null	Het
Or4c112	G	T	2: 89,023,426 (GRCm38)	H192Q	probably benign	Het
Pak5	A	G	2: 136,116,203 (GRCm38)	S322P	probably damaging	Het
Pank2	A	G	2: 131,282,681 (GRCm38)		probably null	Het
Phf6	A	T	X: 52,942,648 (GRCm38)	I272F	probably damaging	Het
Plxna2	T	C	1: 194,797,748 (GRCm38)	L1409P	probably damaging	Het
Polr2a	A	G	11: 69,742,685 (GRCm38)		probably null	Het
Pp2d1	C	A	17: 53,515,454 (GRCm38)	V195L	probably benign	Het
Psma1	C	T	7: 114,264,938 (GRCm38)	E227K	unknown	Het
Ptger1	C	T	8: 83,668,728 (GRCm38)	T278I	probably benign	Het
Slc20a2	C	A	8: 22,560,516 (GRCm38)	S250R	probably benign	Het
Slc27a2	A	G	2: 126,567,752 (GRCm38)	T285A	probably damaging	Het
Slc47a2	T	C	11: 61,313,671 (GRCm38)	T285A	probably benign	Het
Slf1	T	A	13: 77,046,706 (GRCm38)		probably null	Het
Tiam2	A	G	17: 3,415,114 (GRCm38)	T373A	probably benign	Het
Timd2	T	A	11: 46,687,017 (GRCm38)	I96L	probably damaging	Het
Tmem59l	A	G	8: 70,487,301 (GRCm38)	L6S	unknown	Het
Tmem64	T	C	4: 15,266,658 (GRCm38)	I236T	possibly damaging	Het
Vax2	A	T	6: 83,737,889 (GRCm38)	Y262F	probably damaging	Het
Virma	T	C	4: 11,544,924 (GRCm38)	S1628P	probably damaging	Het
Zan	C	A	5: 137,410,306 (GRCm38)		probably benign	Het
Zbtb22	T	G	17: 33,917,965 (GRCm38)	D361E	probably damaging	Het
Zfp27	A	G	7: 29,896,111 (GRCm38)	L143P	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTGTTACACTGACTCAAACGTT -3'
(R):5'- GCCCAGACTGGAGAGTATCACTC -3'

Sequencing Primer
(F):5'- GGGATAACAGTCATCTCACGTTGC -3'
(R):5'- AGAGTATCACTCCTTGTTGGGGC -3'

Posted On

2014-10-15