Mutagenetix > Incidental Mutation

Incidental Mutation 'R6018:Trpm2'

478720

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

044192-MU

Accession Numbers

Essential gene?

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

Stock #

R6018 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77907722-77970563 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77917713 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1319 (F1319S)

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
AA Change: F1319S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: F1319S

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: ENSMUST00000177097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217806

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,416,799 (GRCm38)	Y155N	probably damaging	Het
1700019A02Rik	C	T	1: 53,163,246 (GRCm38)		probably null	Het
2310022B05Rik	A	G	8: 124,639,114 (GRCm38)	F297L	probably benign	Het
Acbd3	T	C	1: 180,752,338 (GRCm38)	S516P	possibly damaging	Het
Agbl3	A	G	6: 34,799,255 (GRCm38)	N227S	probably damaging	Het
Ak6	C	T	13: 100,665,951 (GRCm38)	Q151*	probably null	Het
Ano4	A	G	10: 89,029,266 (GRCm38)	L297P	probably benign	Het
Anxa5	T	C	3: 36,450,658 (GRCm38)	T252A	probably benign	Het
Ap5s1	G	A	2: 131,212,995 (GRCm38)	W212*	probably null	Het
Arl9	A	G	5: 77,007,406 (GRCm38)	Q113R	probably damaging	Het
Atg2b	T	C	12: 105,661,171 (GRCm38)	H519R	probably damaging	Het
Atp1a2	A	G	1: 172,298,012 (GRCm38)		probably benign	Het
Atp2b1	G	A	10: 99,010,760 (GRCm38)	A808T	probably damaging	Het
Bckdhb	C	A	9: 84,069,184 (GRCm38)	T342K	probably benign	Het
Bdp1	T	C	13: 100,038,224 (GRCm38)	H1996R	probably benign	Het
Brix1	C	T	15: 10,476,589 (GRCm38)	R267H	probably benign	Het
Ccdc180	A	G	4: 45,926,235 (GRCm38)	I1148M	probably damaging	Het
Csf3r	T	A	4: 126,043,621 (GRCm38)	M766K	probably benign	Het
Ctnnd1	T	A	2: 84,650,468 (GRCm38)		probably benign	Het
Cyp2c39	A	T	19: 39,510,992 (GRCm38)	N41I	probably damaging	Het
D2hgdh	G	T	1: 93,826,460 (GRCm38)	V52L	probably benign	Het
Dppa4	T	A	16: 48,289,127 (GRCm38)	Y77*	probably null	Het
Eif4enif1	T	C	11: 3,242,481 (GRCm38)	S770P	probably damaging	Het
Fbxl16	A	T	17: 25,817,735 (GRCm38)	D230V	probably damaging	Het
Gm4847	G	A	1: 166,643,448 (GRCm38)	A11V	probably damaging	Het
Gm9978	C	T	10: 78,487,081 (GRCm38)		noncoding transcript	Het
Gpatch8	A	G	11: 102,480,915 (GRCm38)	L599P	unknown	Het
Hdac4	A	G	1: 91,958,398 (GRCm38)	L254P	probably damaging	Het
Heatr1	A	G	13: 12,404,947 (GRCm38)	I384V	probably benign	Het
Heatr1	A	T	13: 12,406,058 (GRCm38)	Q410L	probably benign	Het
Hmcn2	A	G	2: 31,370,792 (GRCm38)	I1065V	probably benign	Het
Igkv6-14	A	G	6: 70,435,040 (GRCm38)	S87P	probably damaging	Het
Il2rb	G	T	15: 78,482,066 (GRCm38)	Q344K	possibly damaging	Het
Ipo4	A	G	14: 55,626,152 (GRCm38)		probably null	Het
Ipo9	A	G	1: 135,390,536 (GRCm38)		probably null	Het
Khdrbs1	T	C	4: 129,720,094 (GRCm38)	T374A	probably benign	Het
Lamc3	G	T	2: 31,905,712 (GRCm38)	G370W	probably damaging	Het
Lipn	T	A	19: 34,076,935 (GRCm38)	L191Q	probably damaging	Het
Lpl	T	C	8: 68,901,288 (GRCm38)	V427A	probably benign	Het
Magi3	T	C	3: 104,105,812 (GRCm38)	S120G	probably damaging	Het
Mgl2	T	C	11: 70,137,111 (GRCm38)	*382Q	probably null	Het
Nab2	G	A	10: 127,664,924 (GRCm38)	Q100*	probably null	Het
Nfat5	T	A	8: 107,355,651 (GRCm38)		probably null	Het
Nqo1	T	C	8: 107,388,868 (GRCm38)	H259R	probably damaging	Het
Nrd1	T	A	4: 109,013,747 (GRCm38)	D190E	probably benign	Het
Olfr1030	T	A	2: 85,984,804 (GRCm38)		probably benign	Het
Osmr	G	A	15: 6,815,795 (GRCm38)	P830L	probably damaging	Het
Parp14	G	A	16: 35,841,457 (GRCm38)	P1403S	probably benign	Het
Pde11a	T	A	2: 76,017,850 (GRCm38)	M878L	probably benign	Het
Pik3ap1	T	C	19: 41,385,016 (GRCm38)		probably benign	Het
Pla2g3	T	C	11: 3,491,916 (GRCm38)	L360P	probably damaging	Het
Plxnc1	A	G	10: 94,943,848 (GRCm38)	V244A	probably benign	Het
Pramef25	C	T	4: 143,950,899 (GRCm38)	A37T	possibly damaging	Het
Ptpra	T	C	2: 130,503,502 (GRCm38)	V8A	probably benign	Het
Rbbp5	T	C	1: 132,494,340 (GRCm38)	V199A	probably damaging	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
Rp1	A	G	1: 4,352,836 (GRCm38)	V7A	possibly damaging	Het
Sdk2	T	C	11: 113,830,063 (GRCm38)	T1347A	probably benign	Het
Sgo2a	T	A	1: 58,016,959 (GRCm38)	H767Q	probably benign	Het
Sis	G	A	3: 72,913,192 (GRCm38)	P1413L	possibly damaging	Het
Slc22a5	G	T	11: 53,876,020 (GRCm38)	A214E	probably damaging	Het
Snx13	G	T	12: 35,047,319 (GRCm38)		probably benign	Het
Sun5	T	A	2: 153,858,443 (GRCm38)	I295F	probably damaging	Het
Themis3	C	T	17: 66,593,209 (GRCm38)	A55T	probably damaging	Het
Tmem255b	T	C	8: 13,455,138 (GRCm38)	Y148H	probably benign	Het
Tmem74b	A	G	2: 151,706,719 (GRCm38)	E122G	probably damaging	Het
Top3b	T	C	16: 16,892,892 (GRCm38)	V862A	probably damaging	Het
Trim35	A	T	14: 66,308,750 (GRCm38)	D322V	probably damaging	Het
Ttn	T	A	2: 76,954,676 (GRCm38)	R756S	probably benign	Het
Vmn2r108	A	T	17: 20,463,006 (GRCm38)	N645K	possibly damaging	Het
Vmn2r73	A	G	7: 85,872,667 (GRCm38)	S155P	possibly damaging	Het
Vstm4	G	A	14: 32,863,670 (GRCm38)	A65T	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
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'- TCCAACAGACCCATGTACTTG -3'
(R):5'- GTGACTGTAGTTGAGCCACC -3'

Sequencing Primer
(F):5'- CCATGTACTTGGGACACTGCTG -3'
(R):5'- CACCAATGGAGGCCGCG -3'

Posted On

2017-06-26