Mutagenetix > Incidental Mutation

Incidental Mutation 'R6798:Trpm2'

533125

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

044911-MU

Accession Numbers

Essential gene?

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

Stock #

R6798 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77743556-77805746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77750574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1341 (N1341Y)

Ref Sequence

ENSEMBL: ENSMUSP00000101040 (fasta)

Gene Model

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

AlphaFold

Q91YD4

Predicted Effect

probably damaging
Transcript: ENSMUST00000105401
AA Change: N1341Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: N1341Y

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

0.6814

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

97% (73/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,782,364 (GRCm39)	Y916H	probably damaging	Het
Adam11	A	G	11: 102,667,834 (GRCm39)	I740V	probably damaging	Het
Adam22	A	T	5: 8,210,784 (GRCm39)	D161E	probably damaging	Het
Agap3	A	G	5: 24,703,280 (GRCm39)		probably null	Het
Ank2	T	C	3: 126,737,913 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,396,423 (GRCm39)	H867Q	possibly damaging	Het
Aurkaip1	T	C	4: 155,917,196 (GRCm39)		probably null	Het
BC048507	A	C	13: 68,011,683 (GRCm39)	D20A	probably benign	Het
Cacna1a	G	A	8: 85,338,231 (GRCm39)	A1704T	probably damaging	Het
Cep152	A	C	2: 125,408,447 (GRCm39)		probably null	Het
Cep19	T	C	16: 31,922,867 (GRCm39)		probably null	Het
Cfhr4	T	C	1: 139,625,859 (GRCm39)	T813A	probably benign	Het
Chd9	A	T	8: 91,778,182 (GRCm39)	E2731V	possibly damaging	Het
Chrd	T	C	16: 20,553,056 (GRCm39)	L139P	probably damaging	Het
Cit	A	G	5: 116,064,585 (GRCm39)	E489G	possibly damaging	Het
Clcn7	A	G	17: 25,378,734 (GRCm39)	N720D	probably damaging	Het
Col6a3	T	C	1: 90,722,731 (GRCm39)		probably null	Het
Dchs2	T	A	3: 83,255,593 (GRCm39)	Y2430N	probably damaging	Het
Dpy30	A	G	17: 74,614,751 (GRCm39)	I64T	probably damaging	Het
Eif2b3	G	T	4: 116,923,655 (GRCm39)	W290L	probably benign	Het
Epha6	T	G	16: 60,425,427 (GRCm39)	E62A	possibly damaging	Het
Epha6	C	T	16: 60,425,428 (GRCm39)	E62K	possibly damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw17	C	A	13: 50,587,300 (GRCm39)		probably null	Het
Fndc8	C	T	11: 82,783,217 (GRCm39)	T66I	probably benign	Het
Frmpd1	A	G	4: 45,284,850 (GRCm39)	T1224A	probably benign	Het
Gcm2	T	C	13: 41,259,361 (GRCm39)	D36G	probably damaging	Het
Glt28d2	T	C	3: 85,779,296 (GRCm39)	D59G	probably benign	Het
Gorasp1	T	C	9: 119,758,663 (GRCm39)	D243G	probably benign	Het
Gtsf1l	T	C	2: 162,929,391 (GRCm39)	K31E	probably benign	Het
Heatr5a	A	G	12: 51,928,048 (GRCm39)	V1816A	probably benign	Het
Il10ra	T	C	9: 45,167,730 (GRCm39)	K274E	probably damaging	Het
Il1rl2	T	C	1: 40,404,400 (GRCm39)	I507T	probably damaging	Het
Jak3	T	G	8: 72,133,615 (GRCm39)	F408V	probably damaging	Het
Kdm1b	A	G	13: 47,222,012 (GRCm39)	T484A	probably benign	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Map9	T	G	3: 82,287,471 (GRCm39)	L31W	probably damaging	Het
Mical2	T	C	7: 111,975,266 (GRCm39)		probably benign	Het
Mt1	A	G	8: 94,906,516 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 112,909,252 (GRCm39)	I1964V	probably damaging	Het
Nalf1	G	A	8: 9,820,205 (GRCm39)	Q272*	probably null	Het
Nod1	A	T	6: 54,921,596 (GRCm39)	C241S	probably damaging	Het
Nrxn1	T	A	17: 90,937,378 (GRCm39)	D685V	probably damaging	Het
Oog1	A	T	12: 87,655,609 (GRCm39)		probably null	Het
Or11a4	T	G	17: 37,536,697 (GRCm39)	L227R	probably damaging	Het
Or2ag13	T	C	7: 106,313,402 (GRCm39)	Y162C	probably damaging	Het
Or4k2	A	G	14: 50,424,584 (GRCm39)	V30A	probably benign	Het
Or56b1b	T	A	7: 108,164,967 (GRCm39)	K12*	probably null	Het
P4htm	T	A	9: 108,460,117 (GRCm39)	N219I	possibly damaging	Het
Pcif1	T	C	2: 164,727,711 (GRCm39)	L168P	possibly damaging	Het
Pde4dip	A	G	3: 97,795,850 (GRCm39)	V46A	probably benign	Het
Pias1	T	C	9: 62,799,451 (GRCm39)	T480A	probably benign	Het
Prkd2	A	T	7: 16,583,128 (GRCm39)	K297*	probably null	Het
Prl7d1	T	A	13: 27,893,380 (GRCm39)		probably null	Het
Pxdc1	G	T	13: 34,836,408 (GRCm39)	A4E	possibly damaging	Het
Rcor1	A	G	12: 111,006,320 (GRCm39)		probably benign	Het
Rev3l	A	T	10: 39,730,759 (GRCm39)	D2761V	probably damaging	Het
Scgb1b7	A	G	7: 31,412,406 (GRCm39)	T61A	probably damaging	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Setd4	C	A	16: 93,386,841 (GRCm39)	V286F	probably damaging	Het
Slc22a29	A	G	19: 8,137,968 (GRCm39)	S536P	probably benign	Het
Snx25	T	C	8: 46,486,810 (GRCm39)	H977R	probably damaging	Het
Spint5	T	A	2: 164,559,060 (GRCm39)	C95*	probably null	Het
Sprr5	G	C	3: 92,440,243 (GRCm39)	C65W	unknown	Het
Srgap1	T	C	10: 121,761,809 (GRCm39)	D113G	probably damaging	Het
Stxbp2	T	A	8: 3,691,180 (GRCm39)	S476T	probably benign	Het
Tg	A	G	15: 66,550,688 (GRCm39)	T273A	probably damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trappc10	A	G	10: 78,024,665 (GRCm39)	Y1155H	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfand1	T	G	3: 10,411,236 (GRCm39)	K67T	probably benign	Het
Zfand4	A	C	6: 116,305,214 (GRCm39)	K214Q	probably benign	Het
Zfp653	A	T	9: 21,968,668 (GRCm39)	V465E	probably damaging	Het
Zswim8	A	G	14: 20,766,060 (GRCm39)	Y782C	probably damaging	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
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
R9547:Trpm2	UTSW	10	77,748,467 (GRCm39)	missense	probably benign	0.33
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'- AAAACTTAGGCAGCTTCCAGG -3'
(R):5'- CTCTGTGAAGAGCCTTGTGG -3'

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

Posted On

2018-08-29