Mutagenetix > Incidental Mutation

Incidental Mutation 'R7379:Trpm2'

572584

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

045461-MU

Accession Numbers

Essential gene?

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

Stock #

R7379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77907722-77970563 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77914734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1343 (T1343A)

Ref Sequence

ENSEMBL: ENSMUSP00000101040 (fasta)

Gene Model

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

AlphaFold

Q91YD4

Predicted Effect

probably benign
Transcript: ENSMUST00000105401
AA Change: T1343A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: T1343A

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

Meta Mutation Damage Score

0.0752

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	G	A	17: 65,985,247 (GRCm38)	R1064*	probably null	Het
Ccdc149	A	G	5: 52,405,066 (GRCm38)	I206T	probably damaging	Het
Ctu1	AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG	AGGACCGGGCAGGAGCCACCTGTGTATCGCAG	7: 43,677,066 (GRCm38)		probably benign	Het
Cyp2j6	T	C	4: 96,525,946 (GRCm38)	T361A	probably damaging	Het
Cyp4a14	A	T	4: 115,493,710 (GRCm38)		probably null	Het
Cyp7b1	A	G	3: 18,097,374 (GRCm38)	V225A	probably benign	Het
Esf1	A	G	2: 140,154,934 (GRCm38)	I503T	probably benign	Het
Flrt2	G	A	12: 95,780,555 (GRCm38)	V556I	possibly damaging	Het
Gaa	T	C	11: 119,283,699 (GRCm38)	S791P	probably benign	Het
H2-T22	A	G	17: 36,042,340 (GRCm38)		probably null	Het
Hexb	A	G	13: 97,181,164 (GRCm38)	S342P	probably damaging	Het
Ift122	C	T	6: 115,926,302 (GRCm38)	R1176C	probably benign	Het
Ift57	A	G	16: 49,760,994 (GRCm38)	E341G	probably damaging	Het
Itpkc	A	T	7: 27,227,769 (GRCm38)	I240K	probably benign	Het
Kit	A	T	5: 75,647,752 (GRCm38)	S719C	probably damaging	Het
Klf1	T	A	8: 84,903,217 (GRCm38)	Y224N	possibly damaging	Het
Krt77	T	C	15: 101,861,274 (GRCm38)	E387G	probably damaging	Het
L3mbtl1	T	A	2: 162,960,979 (GRCm38)	D347E	probably damaging	Het
Map1s	A	G	8: 70,913,575 (GRCm38)	T375A	possibly damaging	Het
Mturn	A	G	6: 54,689,084 (GRCm38)	T81A	possibly damaging	Het
Mug2	A	G	6: 122,047,487 (GRCm38)	E506G	possibly damaging	Het
Notch1	A	G	2: 26,479,467 (GRCm38)	F512S	probably damaging	Het
Or10g1	T	C	14: 52,410,261 (GRCm38)	T204A	probably benign	Het
Or12e13	T	A	2: 87,833,779 (GRCm38)	C247S	probably damaging	Het
Or4c12b	T	A	2: 89,816,689 (GRCm38)	V115E	probably benign	Het
Or9s14	G	T	1: 92,608,467 (GRCm38)	C210F	possibly damaging	Het
Pcdhga10	A	G	18: 37,747,566 (GRCm38)	N127D	probably damaging	Het
Plb1	A	G	5: 32,345,639 (GRCm38)	I1148V	probably damaging	Het
Plcb1	A	G	2: 135,370,510 (GRCm38)	D1007G	probably benign	Het
Prdm16	T	A	4: 154,528,859 (GRCm38)	E37V	probably damaging	Het
Prss45	C	A	9: 110,839,193 (GRCm38)	N151K	possibly damaging	Het
Rngtt	A	T	4: 33,498,981 (GRCm38)	K513*	probably null	Het
Serpinb10	T	C	1: 107,532,387 (GRCm38)		probably benign	Het
Shc1	T	C	3: 89,426,822 (GRCm38)	V402A	probably benign	Het
Slc25a38	T	A	9: 120,120,836 (GRCm38)	L227Q	probably benign	Het
Slc6a13	A	T	6: 121,336,839 (GRCm38)	K514*	probably null	Het
Sorcs3	T	C	19: 48,772,266 (GRCm38)	V911A	possibly damaging	Het
Sptb	A	T	12: 76,610,877 (GRCm38)	I1290N	probably damaging	Het
Sptbn1	T	C	11: 30,139,292 (GRCm38)	K657E	possibly damaging	Het
Stpg4	T	A	17: 87,427,640 (GRCm38)		probably null	Het
Stx2	A	G	5: 128,987,799 (GRCm38)	V278A	possibly damaging	Het
Thoc1	A	T	18: 9,992,902 (GRCm38)	N558I	probably benign	Het
Usf3	T	A	16: 44,220,576 (GRCm38)	D1806E	probably benign	Het
Vmn2r106	C	T	17: 20,267,775 (GRCm38)	M787I	possibly damaging	Het
Wdfy4	A	G	14: 33,151,609 (GRCm38)	S248P		Het
Zeb2	G	T	2: 45,001,817 (GRCm38)		probably null	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
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'- AAACTTAGGCAGCTTCCAGGG -3'
(R):5'- CTCTGTGAAGAGCCTTGTGG -3'

Sequencing Primer
(F):5'- AAGGGAGTAGCCTGGGC -3'
(R):5'- GGCCAGGACAGGTTGTC -3'

Posted On

2019-09-13