Mutagenetix > Incidental Mutation

Incidental Mutation 'R9144:Trpm2'

694503

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

068935-MU

Accession Numbers

Essential gene?

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

Stock #

R9144 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77743556-77805746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77765122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 960 (V960L)

Ref Sequence

ENSEMBL: ENSMUSP00000101040 (fasta)

Gene Model

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

AlphaFold

Q91YD4

Predicted Effect

probably benign
Transcript: ENSMUST00000105401
AA Change: V960L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: V960L

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	C	T	9: 44,192,708 (GRCm39)	V176M	possibly damaging	Het
Acp5	T	C	9: 22,041,242 (GRCm39)	T62A	probably benign	Het
Alad	A	T	4: 62,430,257 (GRCm39)	D88E	probably damaging	Het
Arap1	T	C	7: 101,047,602 (GRCm39)	I803T	probably damaging	Het
Bckdhb	C	A	9: 83,894,662 (GRCm39)	T312K	probably damaging	Het
Cfap206	A	G	4: 34,722,667 (GRCm39)	V138A	possibly damaging	Het
Cntnap5b	A	G	1: 99,978,512 (GRCm39)	Y176C	probably damaging	Het
Creld1	A	T	6: 113,461,468 (GRCm39)	T63S	probably damaging	Het
Dsc1	G	A	18: 20,218,639 (GRCm39)	T878I	possibly damaging	Het
Ehbp1	C	T	11: 22,018,463 (GRCm39)	R873H	probably damaging	Het
Eml2	T	C	7: 18,935,564 (GRCm39)	V466A	possibly damaging	Het
Ercc5	T	A	1: 44,213,511 (GRCm39)	Y836N	probably damaging	Het
Fgf20	T	C	8: 40,732,958 (GRCm39)	D160G		Het
Fgfr4	A	T	13: 55,315,837 (GRCm39)		probably null	Het
Fpr1	A	T	17: 18,097,626 (GRCm39)	V121D	probably damaging	Het
Gabbr1	A	G	17: 37,362,049 (GRCm39)	K218E	probably benign	Het
Galnt12	T	C	4: 47,113,822 (GRCm39)	L372P		Het
Gldc	A	G	19: 30,114,593 (GRCm39)	F439S		Het
Gm6465	A	G	5: 11,896,726 (GRCm39)	T32A	possibly damaging	Het
Has2	T	C	15: 56,545,588 (GRCm39)	R5G	probably benign	Het
Hexb	T	C	13: 97,317,599 (GRCm39)	Y366C	probably damaging	Het
Ier2	C	T	8: 85,389,266 (GRCm39)	V39I	probably benign	Het
Ifi214	A	G	1: 173,355,434 (GRCm39)	S125P	possibly damaging	Het
Kcnk15	A	G	2: 163,700,451 (GRCm39)	D230G	probably benign	Het
Kdm3b	A	T	18: 34,927,558 (GRCm39)	Y140F	probably benign	Het
Klk1b11	T	C	7: 43,427,055 (GRCm39)	V140A	probably damaging	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Ltbp2	T	C	12: 84,856,426 (GRCm39)	I699M	probably damaging	Het
Mak	C	A	13: 41,201,594 (GRCm39)	E256*	probably null	Het
Mark3	C	A	12: 111,606,376 (GRCm39)	N496K	probably benign	Het
Mex3c	A	G	18: 73,723,397 (GRCm39)	T497A	probably benign	Het
Myt1	A	G	2: 181,467,805 (GRCm39)	I1160V	possibly damaging	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nsg1	A	G	5: 38,302,088 (GRCm39)	Y108H	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Obscn	A	G	11: 58,960,103 (GRCm39)	S3255P	possibly damaging	Het
Or5w18	A	G	2: 87,633,482 (GRCm39)	T246A	probably benign	Het
Plxna4	A	G	6: 32,162,496 (GRCm39)	V1339A	possibly damaging	Het
Ppp2r5e	C	T	12: 75,506,468 (GRCm39)	R433H	possibly damaging	Het
Pwwp2a	T	A	11: 43,596,721 (GRCm39)	C629S	probably benign	Het
Rasl10a	T	A	11: 5,008,473 (GRCm39)	S56R	probably benign	Het
Rhob	A	G	12: 8,549,124 (GRCm39)	V170A	probably damaging	Het
Rlf	A	T	4: 121,003,900 (GRCm39)	N1803K	probably benign	Het
Rmdn3	G	T	2: 118,969,847 (GRCm39)	Q405K	probably benign	Het
Rpap3	G	A	15: 97,589,184 (GRCm39)	T250M	possibly damaging	Het
Rraga	T	C	4: 86,494,796 (GRCm39)	I214T	probably damaging	Het
Rundc3a	A	T	11: 102,290,862 (GRCm39)	Q315L	probably benign	Het
Sh3bgr	T	A	16: 96,001,931 (GRCm39)	S10T	probably benign	Het
Skint6	A	T	4: 112,985,102 (GRCm39)	S421R	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Sppl2a	A	G	2: 126,769,743 (GRCm39)	S38P	probably benign	Het
Tex14	T	A	11: 87,413,423 (GRCm39)		probably null	Het
Tmem181a	G	A	17: 6,346,048 (GRCm39)	V181M	possibly damaging	Het
Traf3	T	A	12: 111,228,294 (GRCm39)	S502T	probably benign	Het
Trav9n-4	T	G	14: 53,532,236 (GRCm39)	V30G	probably damaging	Het
Unc13b	T	A	4: 43,173,649 (GRCm39)	D1492E	unknown	Het
Usp44	A	G	10: 93,681,645 (GRCm39)	T32A	probably benign	Het
Vmn1r38	A	G	6: 66,753,612 (GRCm39)	M168T	probably benign	Het
Vmn1r9	A	G	6: 57,048,788 (GRCm39)	I288V	probably benign	Het
Zfhx3	A	G	8: 109,676,794 (GRCm39)	T2615A	possibly 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
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
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'- CAAGGCAAGCTGACCCAATG -3'
(R):5'- ATCCTGCATCTGTATCCGGG -3'

Sequencing Primer
(F):5'- TGGCTGGAAATGAACCCTGTCTC -3'
(R):5'- CCTGCATCTGTATCCGGGTGATAG -3'

Posted On

2022-01-20