Mutagenetix > Incidental Mutation

Incidental Mutation 'R9547:Trpm2'

720189

Institutional Source

Beutler Lab

Gene Symbol

Trpm2

Ensembl Gene

ENSMUSG00000009292

Gene Name

transient receptor potential cation channel, subfamily M, member 2

Synonyms

Trrp7, TRPC7, LTRPC2, 9830168K16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R9547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77743556-77805746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77748467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1401 (V1401A)

Ref Sequence

ENSEMBL: ENSMUSP00000101040 (fasta)

Gene Model

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

AlphaFold

Q91YD4

Predicted Effect

probably benign
Transcript: ENSMUST00000105401
AA Change: V1401A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: V1401A

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: 99.4%
20x: 98.0%

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
Aadacl2fm3	G	T	3: 59,772,656 (GRCm39)	M53I	probably benign	Het
Abtb1	C	T	6: 88,815,917 (GRCm39)	V185M	probably damaging	Het
Acod1	A	T	14: 103,292,294 (GRCm39)	S273C	probably benign	Het
Aifm3	T	C	16: 17,317,604 (GRCm39)	V75A	probably benign	Het
Anks1	T	C	17: 28,270,748 (GRCm39)	L845P	probably damaging	Het
Apc	A	G	18: 34,445,311 (GRCm39)	K736E	possibly damaging	Het
Atad2	A	G	15: 57,989,973 (GRCm39)	S168P	probably damaging	Het
Cand2	G	A	6: 115,759,757 (GRCm39)	A143T	probably benign	Het
Cep290	A	T	10: 100,380,841 (GRCm39)	H116L	probably benign	Het
Chd9	G	A	8: 91,683,186 (GRCm39)	R542H	unknown	Het
Crnkl1	T	C	2: 145,772,550 (GRCm39)	M176V	possibly damaging	Het
Dnah14	A	C	1: 181,420,992 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,624,805 (GRCm39)	E3744G	probably damaging	Het
Ednrb	T	C	14: 104,080,459 (GRCm39)	I152V	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fat3	A	T	9: 15,911,142 (GRCm39)	I1620N	possibly damaging	Het
Fbxo4	G	A	15: 3,998,493 (GRCm39)	P322S	probably damaging	Het
Fbxw10	G	T	11: 62,767,647 (GRCm39)	V828F	possibly damaging	Het
Gm7579	CTGTGTG	CTGTG	7: 141,765,736 (GRCm39)		probably null	Het
Gmip	T	C	8: 70,273,381 (GRCm39)	S891P	possibly damaging	Het
Grb10	A	G	11: 11,893,919 (GRCm39)	I389T	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hhatl	A	G	9: 121,618,649 (GRCm39)	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,586,885 (GRCm39)	F83L	possibly damaging	Het
Intu	G	A	3: 40,608,536 (GRCm39)	V183I	probably benign	Het
Ipo4	A	G	14: 55,870,789 (GRCm39)		probably null	Het
Kdm4c	A	C	4: 74,323,104 (GRCm39)	D1012A	possibly damaging	Het
Klrc2	C	G	6: 129,633,812 (GRCm39)	A188P	probably benign	Het
Lipc	T	C	9: 70,728,146 (GRCm39)	D104G	unknown	Het
Lrrc63	A	T	14: 75,344,828 (GRCm39)	L420M	probably damaging	Het
Ly75	C	A	2: 60,161,069 (GRCm39)		probably null	Het
Mrpl50	T	A	4: 49,514,338 (GRCm39)	H111L	probably damaging	Het
Mtmr9	A	G	14: 63,779,855 (GRCm39)	I78T	possibly damaging	Het
Npepl1	A	G	2: 173,962,030 (GRCm39)	D304G	probably null	Het
Nphs1	C	T	7: 30,180,875 (GRCm39)	S1093F	probably benign	Het
Or2n1d	G	T	17: 38,646,341 (GRCm39)	V98F	possibly damaging	Het
Or5k3	T	C	16: 58,970,107 (GRCm39)	I298T	possibly damaging	Het
Or8g24	G	A	9: 38,989,927 (GRCm39)	T38I	probably damaging	Het
Pcdh18	A	T	3: 49,709,506 (GRCm39)	I603K	possibly damaging	Het
Pdcd6ip	A	T	9: 113,484,174 (GRCm39)	Y818N	unknown	Het
Phf10	A	G	17: 15,166,459 (GRCm39)		probably null	Het
Phgdh	A	G	3: 98,241,950 (GRCm39)	S55P	probably damaging	Het
Poll	G	T	19: 45,546,359 (GRCm39)	P227H	probably benign	Het
Prdm2	A	T	4: 142,861,561 (GRCm39)	S576R	probably damaging	Het
Psg26	T	C	7: 18,214,087 (GRCm39)	I192V	probably benign	Het
Rpgrip1l	T	C	8: 91,977,873 (GRCm39)	D1038G	probably benign	Het
Snx18	A	G	13: 113,753,754 (GRCm39)	M393T	possibly damaging	Het
Srsf11	A	G	3: 157,717,735 (GRCm39)	C448R	unknown	Het
Sv2c	A	G	13: 96,185,008 (GRCm39)	I223T	probably benign	Het
Tbc1d1	T	C	5: 64,330,950 (GRCm39)	V43A	possibly damaging	Het
Tex21	T	C	12: 76,253,591 (GRCm39)	T441A	probably damaging	Het
Thnsl2	T	A	6: 71,116,810 (GRCm39)	D114V	probably damaging	Het
Ttll6	T	C	11: 96,049,588 (GRCm39)	S769P	probably benign	Het
Tut4	A	G	4: 108,370,429 (GRCm39)	D776G	probably benign	Het
Uba5	A	G	9: 103,931,567 (GRCm39)	S222P	probably damaging	Het
Ublcp1	T	C	11: 44,347,251 (GRCm39)	Y290C	probably damaging	Het
Vmn1r216	A	T	13: 23,283,455 (GRCm39)	D46V	probably damaging	Het
Wdr17	A	T	8: 55,112,735 (GRCm39)	F789I	probably damaging	Het
Zfp266	A	G	9: 20,411,746 (GRCm39)	S144P	probably benign	Het

Other mutations in Trpm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00730:Trpm2	APN	10	77,778,749 (GRCm39)	splice site	probably null
IGL00773:Trpm2	APN	10	77,785,048 (GRCm39)	nonsense	probably null
IGL00962:Trpm2	APN	10	77,779,750 (GRCm39)	splice site	probably benign
IGL01093:Trpm2	APN	10	77,768,114 (GRCm39)	missense	probably benign	0.04
IGL01124:Trpm2	APN	10	77,781,659 (GRCm39)	splice site	probably benign
IGL01301:Trpm2	APN	10	77,759,818 (GRCm39)	missense	probably damaging	1.00
IGL02094:Trpm2	APN	10	77,778,830 (GRCm39)	nonsense	probably null
IGL02175:Trpm2	APN	10	77,773,741 (GRCm39)	missense	probably benign	0.07
IGL02653:Trpm2	APN	10	77,748,503 (GRCm39)	missense	probably benign	0.19
IGL02667:Trpm2	APN	10	77,771,776 (GRCm39)	missense	probably damaging	1.00
IGL02668:Trpm2	APN	10	77,771,776 (GRCm39)	missense	probably damaging	1.00
IGL02828:Trpm2	APN	10	77,754,820 (GRCm39)	missense	probably benign	0.16
IGL02951:Trpm2	APN	10	77,765,112 (GRCm39)	missense	possibly damaging	0.95
IGL03188:Trpm2	APN	10	77,754,743 (GRCm39)	missense	probably benign	0.18
IGL03242:Trpm2	APN	10	77,753,568 (GRCm39)	missense	probably benign
IGL03405:Trpm2	APN	10	77,801,906 (GRCm39)	splice site	probably benign
Fugit	UTSW	10	77,774,202 (GRCm39)	missense	probably damaging	1.00
scusate	UTSW	10	77,802,828 (GRCm39)	nonsense	probably null
temporal	UTSW	10	77,761,516 (GRCm39)	missense	probably benign	0.30
ANU18:Trpm2	UTSW	10	77,759,818 (GRCm39)	missense	probably damaging	1.00
R0147:Trpm2	UTSW	10	77,761,659 (GRCm39)	missense	probably damaging	1.00
R0148:Trpm2	UTSW	10	77,761,659 (GRCm39)	missense	probably damaging	1.00
R0302:Trpm2	UTSW	10	77,779,824 (GRCm39)	splice site	probably benign
R0332:Trpm2	UTSW	10	77,783,822 (GRCm39)	missense	probably damaging	1.00
R0586:Trpm2	UTSW	10	77,759,350 (GRCm39)	missense	probably damaging	0.99
R0847:Trpm2	UTSW	10	77,765,122 (GRCm39)	missense	possibly damaging	0.94
R1183:Trpm2	UTSW	10	77,759,398 (GRCm39)	missense	probably damaging	1.00
R1472:Trpm2	UTSW	10	77,801,841 (GRCm39)	missense	probably damaging	1.00
R1510:Trpm2	UTSW	10	77,802,828 (GRCm39)	nonsense	probably null
R1518:Trpm2	UTSW	10	77,778,839 (GRCm39)	missense	possibly damaging	0.67
R1564:Trpm2	UTSW	10	77,778,833 (GRCm39)	missense	probably benign	0.14
R1593:Trpm2	UTSW	10	77,778,910 (GRCm39)	missense	possibly damaging	0.71
R1617:Trpm2	UTSW	10	77,771,709 (GRCm39)	splice site	probably null
R1673:Trpm2	UTSW	10	77,778,778 (GRCm39)	missense	probably benign
R1912:Trpm2	UTSW	10	77,781,710 (GRCm39)	missense	probably benign	0.10
R1932:Trpm2	UTSW	10	77,776,992 (GRCm39)	missense	probably damaging	1.00
R1993:Trpm2	UTSW	10	77,783,823 (GRCm39)	missense	probably damaging	1.00
R2013:Trpm2	UTSW	10	77,761,600 (GRCm39)	missense	probably damaging	1.00
R2151:Trpm2	UTSW	10	77,768,013 (GRCm39)	missense	probably benign	0.01
R2201:Trpm2	UTSW	10	77,756,305 (GRCm39)	nonsense	probably null
R2217:Trpm2	UTSW	10	77,777,016 (GRCm39)	missense	probably damaging	1.00
R2312:Trpm2	UTSW	10	77,754,798 (GRCm39)	missense	probably benign	0.04
R2339:Trpm2	UTSW	10	77,750,640 (GRCm39)	splice site	probably benign
R2395:Trpm2	UTSW	10	77,783,714 (GRCm39)	missense	possibly damaging	0.69
R2396:Trpm2	UTSW	10	77,766,471 (GRCm39)	missense	probably benign	0.14
R2405:Trpm2	UTSW	10	77,770,558 (GRCm39)	missense	probably damaging	1.00
R2567:Trpm2	UTSW	10	77,777,008 (GRCm39)	missense	probably damaging	0.99
R3001:Trpm2	UTSW	10	77,766,368 (GRCm39)	critical splice donor site	probably null
R3002:Trpm2	UTSW	10	77,766,368 (GRCm39)	critical splice donor site	probably null
R3125:Trpm2	UTSW	10	77,747,208 (GRCm39)	missense	probably damaging	1.00
R3500:Trpm2	UTSW	10	77,768,136 (GRCm39)	missense	probably benign	0.03
R3777:Trpm2	UTSW	10	77,771,824 (GRCm39)	missense	probably benign	0.13
R3778:Trpm2	UTSW	10	77,771,824 (GRCm39)	missense	probably benign	0.13
R4272:Trpm2	UTSW	10	77,769,476 (GRCm39)	missense	probably damaging	1.00
R4384:Trpm2	UTSW	10	77,753,559 (GRCm39)	missense	probably benign	0.44
R4395:Trpm2	UTSW	10	77,765,053 (GRCm39)	missense	probably benign	0.01
R4423:Trpm2	UTSW	10	77,770,902 (GRCm39)	missense	probably benign	0.00
R4452:Trpm2	UTSW	10	77,759,427 (GRCm39)	missense	probably damaging	1.00
R4612:Trpm2	UTSW	10	77,781,750 (GRCm39)	missense	probably damaging	0.99
R4662:Trpm2	UTSW	10	77,773,972 (GRCm39)	missense	probably benign	0.05
R4825:Trpm2	UTSW	10	77,777,007 (GRCm39)	missense	probably damaging	0.98
R4906:Trpm2	UTSW	10	77,768,023 (GRCm39)	nonsense	probably null
R4943:Trpm2	UTSW	10	77,801,841 (GRCm39)	missense	probably damaging	1.00
R4948:Trpm2	UTSW	10	77,753,626 (GRCm39)	missense	probably benign	0.34
R5046:Trpm2	UTSW	10	77,801,852 (GRCm39)	missense	probably damaging	1.00
R5320:Trpm2	UTSW	10	77,759,355 (GRCm39)	missense	probably benign	0.06
R5523:Trpm2	UTSW	10	77,771,795 (GRCm39)	missense	probably benign	0.04
R5562:Trpm2	UTSW	10	77,795,773 (GRCm39)	missense	possibly damaging	0.71
R5623:Trpm2	UTSW	10	77,767,973 (GRCm39)	missense	probably damaging	0.96
R5628:Trpm2	UTSW	10	77,748,470 (GRCm39)	missense	probably benign	0.00
R5633:Trpm2	UTSW	10	77,774,187 (GRCm39)	missense	possibly damaging	0.71
R5817:Trpm2	UTSW	10	77,801,814 (GRCm39)	missense	probably damaging	1.00
R5989:Trpm2	UTSW	10	77,795,734 (GRCm39)	missense	probably damaging	1.00
R6018:Trpm2	UTSW	10	77,753,547 (GRCm39)	missense	probably benign	0.00
R6075:Trpm2	UTSW	10	77,770,877 (GRCm39)	critical splice donor site	probably null
R6092:Trpm2	UTSW	10	77,761,516 (GRCm39)	missense	probably benign	0.30
R6309:Trpm2	UTSW	10	77,774,202 (GRCm39)	missense	probably damaging	1.00
R6327:Trpm2	UTSW	10	77,768,061 (GRCm39)	missense	probably damaging	1.00
R6568:Trpm2	UTSW	10	77,773,660 (GRCm39)	missense	probably benign	0.01
R6579:Trpm2	UTSW	10	77,773,660 (GRCm39)	missense	probably benign	0.01
R6640:Trpm2	UTSW	10	77,773,660 (GRCm39)	missense	probably benign	0.01
R6642:Trpm2	UTSW	10	77,773,660 (GRCm39)	missense	probably benign	0.01
R6798:Trpm2	UTSW	10	77,750,574 (GRCm39)	missense	probably damaging	0.99
R6999:Trpm2	UTSW	10	77,771,725 (GRCm39)	missense	probably damaging	1.00
R7034:Trpm2	UTSW	10	77,748,426 (GRCm39)	missense	probably benign
R7036:Trpm2	UTSW	10	77,748,426 (GRCm39)	missense	probably benign
R7113:Trpm2	UTSW	10	77,783,765 (GRCm39)	missense	probably damaging	0.96
R7171:Trpm2	UTSW	10	77,759,848 (GRCm39)	missense	probably damaging	1.00
R7240:Trpm2	UTSW	10	77,771,710 (GRCm39)	critical splice donor site	probably null
R7274:Trpm2	UTSW	10	77,759,389 (GRCm39)	missense	probably benign	0.00
R7379:Trpm2	UTSW	10	77,750,568 (GRCm39)	missense	probably benign
R7527:Trpm2	UTSW	10	77,801,894 (GRCm39)	missense	probably benign	0.01
R7571:Trpm2	UTSW	10	77,773,784 (GRCm39)	missense	probably benign	0.21
R7600:Trpm2	UTSW	10	77,773,885 (GRCm39)	missense	probably benign	0.02
R7727:Trpm2	UTSW	10	77,761,623 (GRCm39)	missense	probably benign	0.34
R7771:Trpm2	UTSW	10	77,768,013 (GRCm39)	missense	probably benign	0.01
R7844:Trpm2	UTSW	10	77,759,340 (GRCm39)	missense	probably benign	0.00
R8158:Trpm2	UTSW	10	77,783,731 (GRCm39)	missense	probably damaging	0.99
R8225:Trpm2	UTSW	10	77,783,807 (GRCm39)	missense	probably damaging	1.00
R8226:Trpm2	UTSW	10	77,783,807 (GRCm39)	missense	probably damaging	1.00
R8239:Trpm2	UTSW	10	77,771,836 (GRCm39)	missense	probably benign	0.06
R8275:Trpm2	UTSW	10	77,801,859 (GRCm39)	nonsense	probably null
R8340:Trpm2	UTSW	10	77,759,458 (GRCm39)	nonsense	probably null
R8354:Trpm2	UTSW	10	77,769,483 (GRCm39)	missense	probably damaging	1.00
R8427:Trpm2	UTSW	10	77,747,236 (GRCm39)	missense	possibly damaging	0.93
R8445:Trpm2	UTSW	10	77,746,086 (GRCm39)	missense	probably damaging	1.00
R8769:Trpm2	UTSW	10	77,768,128 (GRCm39)	missense	probably benign	0.00
R9144:Trpm2	UTSW	10	77,765,122 (GRCm39)	missense	probably benign	0.01
R9286:Trpm2	UTSW	10	77,777,014 (GRCm39)	missense	probably benign	0.06
R9319:Trpm2	UTSW	10	77,785,032 (GRCm39)	missense	probably damaging	1.00
R9319:Trpm2	UTSW	10	77,778,776 (GRCm39)	nonsense	probably null
R9381:Trpm2	UTSW	10	77,747,191 (GRCm39)	missense	possibly damaging	0.90
R9457:Trpm2	UTSW	10	77,747,226 (GRCm39)	missense	possibly damaging	0.82
R9477:Trpm2	UTSW	10	77,747,224 (GRCm39)	missense	probably benign	0.12
R9660:Trpm2	UTSW	10	77,766,389 (GRCm39)	missense	probably benign	0.00
R9663:Trpm2	UTSW	10	77,756,320 (GRCm39)	missense	probably benign	0.01
Z1177:Trpm2	UTSW	10	77,773,702 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CACTTAGCATGCAGGGAATCCG -3'
(R):5'- TGGTGATCTGGACAGTGTCAC -3'

Sequencing Primer
(F):5'- CATGCAGGGAATCCGCACAG -3'
(R):5'- ATCTGGACAGTGTCACTCAGCTAG -3'

Posted On

2022-07-18