Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU18:Trpm2'

262547

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

ANU18

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77743556-77805746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77759818 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1106 (L1106P)

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 damaging
Transcript: ENSMUST00000105401
AA Change: L1106P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101040
Gene: ENSMUSG00000009292
AA Change: L1106P

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: ENSMUST00000217806

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,164,181 (GRCm39)		probably null	Het
Acacb	A	T	5: 114,384,559 (GRCm39)	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,358,710 (GRCm39)	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,551,425 (GRCm39)	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,005,648 (GRCm39)	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,151,154 (GRCm39)		probably null	Het
Chst3	T	C	10: 60,021,654 (GRCm39)	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625 (GRCm39)	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,375,652 (GRCm39)	L45P	probably damaging	Het
D630003M21Rik	A	G	2: 158,059,568 (GRCm39)	S111P	probably benign	Het
Defb21	A	G	2: 152,416,671 (GRCm39)	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,890,793 (GRCm39)	S325P	probably benign	Het
Fam91a1	T	C	15: 58,314,720 (GRCm39)	F534L	probably damaging	Het
Fermt2	T	C	14: 45,702,320 (GRCm39)	E488G	probably damaging	Het
Filip1	T	C	9: 79,726,462 (GRCm39)	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,013 (GRCm39)		noncoding transcript	Het
Glra3	C	A	8: 56,393,997 (GRCm39)	A36E	probably benign	Het
Hnrnpm	C	T	17: 33,888,142 (GRCm39)		probably null	Het
Lct	T	A	1: 128,235,784 (GRCm39)	R408*	probably null	Het
Lrrk2	T	A	15: 91,651,542 (GRCm39)	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,195,701 (GRCm39)	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,588,750 (GRCm39)	Y164*	probably null	Het
Msra	T	C	14: 64,447,884 (GRCm39)	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,342,565 (GRCm39)	A749T	probably damaging	Het
Ngdn	G	T	14: 55,254,571 (GRCm39)	A41S	probably benign	Het
Nlrp12	A	T	7: 3,288,722 (GRCm39)	S597T	probably damaging	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,886,899 (GRCm39)	S551P	probably benign	Het
Plekhg5	C	T	4: 152,197,010 (GRCm39)	A752V	probably benign	Het
Prpf4b	T	C	13: 35,068,274 (GRCm39)	S368P	probably benign	Het
Pus7	A	G	5: 23,951,422 (GRCm39)		probably null	Het
Rab40b	C	G	11: 121,248,788 (GRCm39)	V156L	probably benign	Het
Slc9a9	T	A	9: 94,937,512 (GRCm39)	S455T	probably benign	Het
Tmem26	A	T	10: 68,614,436 (GRCm39)	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,211,250 (GRCm39)	I232V	probably benign	Het
Tshz1	A	G	18: 84,032,786 (GRCm39)	Y541H	probably damaging	Het
Zfp213	G	T	17: 23,780,391 (GRCm39)	A43D	probably benign	Het
Zfp365	A	G	10: 67,745,184 (GRCm39)	V198A	probably damaging	Het
Zfp618	G	A	4: 63,051,063 (GRCm39)	V615M	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
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
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'- ACAGGGACCTCATAACTCATCCAGG -3'
(R):5'- TGGACTGCTGTGTCCCACAAAC -3'

Sequencing Primer
(F):5'- gaaccctaaatcctgcctcc -3'
(R):5'- AACATTCTGATACATGCACCTCTG -3'

Posted On

2015-02-04