Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00852:Trpm3'

14602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpm3

Ensembl Gene

ENSMUSG00000052387

Gene Name

transient receptor potential cation channel, subfamily M, member 3

Synonyms

6330504P12Rik, LTRPC3, melastatin 2, B930001P07Rik, MLSN2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL00852

Quality Score

Status

Chromosome

Chromosomal Location

22116410-22972774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22964435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1310 (V1310D)

Ref Sequence

ENSEMBL: ENSMUSP00000097164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037901] [ENSMUST00000074770] [ENSMUST00000087576] [ENSMUST00000099569]

AlphaFold

J9S314

Predicted Effect

probably benign
Transcript: ENSMUST00000037901
AA Change: V1308D

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000042184
Gene: ENSMUSG00000052387
AA Change: V1308D

Domain	Start	End	E-Value	Type
Blast:ANK	485	514	1e-6	BLAST
low complexity region	619	631	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	788	800	N/A	INTRINSIC
low complexity region	821	840	N/A	INTRINSIC
Pfam:Ion_trans	883	1136	1.7e-19	PFAM
Pfam:TRPM_tetra	1227	1282	1.5e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074770
AA Change: V1300D

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074328
Gene: ENSMUSG00000052387
AA Change: V1300D

Domain	Start	End	E-Value	Type
low complexity region	16	33	N/A	INTRINSIC
Blast:ANK	487	516	5e-7	BLAST
low complexity region	611	623	N/A	INTRINSIC
low complexity region	666	681	N/A	INTRINSIC
low complexity region	780	792	N/A	INTRINSIC
low complexity region	813	832	N/A	INTRINSIC
transmembrane domain	874	896	N/A	INTRINSIC
Pfam:Ion_trans	908	1116	5.1e-14	PFAM
low complexity region	1378	1388	N/A	INTRINSIC
low complexity region	1433	1455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000087576
AA Change: V1310D

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000084857
Gene: ENSMUSG00000052387
AA Change: V1310D

Domain	Start	End	E-Value	Type
low complexity region	16	33	N/A	INTRINSIC
Blast:ANK	487	516	5e-7	BLAST
low complexity region	621	633	N/A	INTRINSIC
low complexity region	676	691	N/A	INTRINSIC
low complexity region	790	802	N/A	INTRINSIC
low complexity region	823	842	N/A	INTRINSIC
transmembrane domain	884	906	N/A	INTRINSIC
Pfam:Ion_trans	918	1126	5.1e-14	PFAM
low complexity region	1388	1398	N/A	INTRINSIC
low complexity region	1443	1465	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099569
AA Change: V1310D

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097164
Gene: ENSMUSG00000052387
AA Change: V1310D

Domain	Start	End	E-Value	Type
low complexity region	16	33	N/A	INTRINSIC
Blast:ANK	487	516	6e-7	BLAST
low complexity region	609	621	N/A	INTRINSIC
low complexity region	664	679	N/A	INTRINSIC
low complexity region	778	790	N/A	INTRINSIC
low complexity region	811	830	N/A	INTRINSIC
Pfam:Ion_trans	873	1138	3.2e-19	PFAM
Pfam:TRPM_tetra	1229	1284	4.4e-26	PFAM
low complexity region	1388	1398	N/A	INTRINSIC
low complexity region	1443	1465	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display impaired thermal and chemical nociception. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap157	T	A	2: 32,669,827 (GRCm39)	Q252L	possibly damaging	Het
Chd9	C	A	8: 91,699,835 (GRCm39)	Q622K	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Cypt15-ps	A	T	X: 38,435,507 (GRCm39)	R56*	probably null	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dmxl2	A	T	9: 54,330,597 (GRCm39)	L721*	probably null	Het
Dsc2	C	T	18: 20,167,740 (GRCm39)	V718I	probably benign	Het
Eef1b2	G	A	1: 63,217,665 (GRCm39)	G91R	probably damaging	Het
Epb41l1	C	T	2: 156,345,638 (GRCm39)	L214F	probably damaging	Het
Ibtk	A	C	9: 85,595,654 (GRCm39)	Y971D	probably benign	Het
Lancl1	G	A	1: 67,043,996 (GRCm39)	L335F	probably damaging	Het
Pcm1	T	C	8: 41,740,858 (GRCm39)	W1035R	probably damaging	Het
Pkn2	T	A	3: 142,515,577 (GRCm39)		probably benign	Het
Ranbp2	G	A	10: 58,313,723 (GRCm39)	R1481Q	probably benign	Het
Scn5a	T	C	9: 119,366,748 (GRCm39)	N313S	probably benign	Het
Septin10	A	G	10: 59,028,642 (GRCm39)		probably benign	Het
Serpinb6c	A	T	13: 34,081,321 (GRCm39)		probably null	Het
Slc22a19	C	T	19: 7,660,323 (GRCm39)	M362I	probably benign	Het
Spmip4	T	A	6: 50,566,164 (GRCm39)		probably null	Het
Tnni3k	T	A	3: 154,760,206 (GRCm39)	Q43L	probably benign	Het
Zdhhc13	T	A	7: 48,455,349 (GRCm39)	S260R	probably benign	Het

Other mutations in Trpm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Trpm3	APN	19	22,965,023 (GRCm39)	missense	probably benign	0.00
IGL00773:Trpm3	APN	19	22,877,523 (GRCm39)	missense	possibly damaging	0.92
IGL01597:Trpm3	APN	19	22,692,610 (GRCm39)	missense	probably damaging	1.00
IGL01607:Trpm3	APN	19	22,964,491 (GRCm39)	missense	probably benign	0.01
IGL01818:Trpm3	APN	19	22,891,838 (GRCm39)	missense	probably damaging	1.00
IGL01890:Trpm3	APN	19	22,689,083 (GRCm39)	missense	probably damaging	0.98
IGL02016:Trpm3	APN	19	22,879,433 (GRCm39)	nonsense	probably null
IGL02324:Trpm3	APN	19	22,676,143 (GRCm39)	missense	probably benign	0.25
IGL02947:Trpm3	APN	19	22,878,483 (GRCm39)	missense	probably damaging	0.99
IGL03037:Trpm3	APN	19	22,866,776 (GRCm39)	missense	possibly damaging	0.85
IGL03128:Trpm3	APN	19	22,891,829 (GRCm39)	missense	probably damaging	1.00
IGL03335:Trpm3	APN	19	22,903,435 (GRCm39)	critical splice donor site	probably null
IGL03354:Trpm3	APN	19	22,834,082 (GRCm39)	missense	probably damaging	1.00
bit	UTSW	19	22,965,233 (GRCm39)	missense	probably benign	0.00
G1patch:Trpm3	UTSW	19	22,903,392 (GRCm39)	missense	probably damaging	1.00
P0041:Trpm3	UTSW	19	22,875,050 (GRCm39)	missense	probably benign	0.01
R0001:Trpm3	UTSW	19	22,692,695 (GRCm39)	missense	possibly damaging	0.70
R0007:Trpm3	UTSW	19	22,964,893 (GRCm39)	missense	probably benign	0.00
R0007:Trpm3	UTSW	19	22,964,893 (GRCm39)	missense	probably benign	0.00
R0009:Trpm3	UTSW	19	22,891,810 (GRCm39)	missense	probably damaging	1.00
R0009:Trpm3	UTSW	19	22,891,810 (GRCm39)	missense	probably damaging	1.00
R0142:Trpm3	UTSW	19	22,965,280 (GRCm39)	missense	probably damaging	0.98
R0194:Trpm3	UTSW	19	22,692,720 (GRCm39)	splice site	probably null
R0268:Trpm3	UTSW	19	22,874,885 (GRCm39)	critical splice donor site	probably null
R0299:Trpm3	UTSW	19	22,964,237 (GRCm39)	missense	possibly damaging	0.62
R0449:Trpm3	UTSW	19	22,965,418 (GRCm39)	missense	probably benign
R0481:Trpm3	UTSW	19	22,878,435 (GRCm39)	missense	possibly damaging	0.51
R0496:Trpm3	UTSW	19	22,676,142 (GRCm39)	missense	probably benign	0.00
R0499:Trpm3	UTSW	19	22,964,237 (GRCm39)	missense	possibly damaging	0.62
R0550:Trpm3	UTSW	19	22,965,176 (GRCm39)	missense	probably damaging	0.97
R0729:Trpm3	UTSW	19	22,965,153 (GRCm39)	missense	probably benign
R0883:Trpm3	UTSW	19	22,956,018 (GRCm39)	missense	probably damaging	1.00
R0926:Trpm3	UTSW	19	22,965,407 (GRCm39)	missense	probably benign	0.02
R1185:Trpm3	UTSW	19	22,891,781 (GRCm39)	splice site	probably benign
R1185:Trpm3	UTSW	19	22,891,781 (GRCm39)	splice site	probably benign
R1513:Trpm3	UTSW	19	22,964,236 (GRCm39)	missense	possibly damaging	0.96
R1521:Trpm3	UTSW	19	22,878,585 (GRCm39)	missense	probably damaging	1.00
R1522:Trpm3	UTSW	19	22,955,698 (GRCm39)	missense	probably benign	0.39
R1569:Trpm3	UTSW	19	22,866,809 (GRCm39)	critical splice donor site	probably null
R1598:Trpm3	UTSW	19	22,710,388 (GRCm39)	missense	possibly damaging	0.47
R1600:Trpm3	UTSW	19	22,116,519 (GRCm39)	missense	probably benign	0.00
R1616:Trpm3	UTSW	19	22,960,076 (GRCm39)	missense	probably damaging	1.00
R1619:Trpm3	UTSW	19	22,689,271 (GRCm39)	missense	probably damaging	0.99
R1923:Trpm3	UTSW	19	22,862,776 (GRCm39)	missense	probably damaging	1.00
R1985:Trpm3	UTSW	19	22,903,446 (GRCm39)	missense	possibly damaging	0.56
R2002:Trpm3	UTSW	19	22,959,947 (GRCm39)	missense	probably damaging	1.00
R2249:Trpm3	UTSW	19	22,710,398 (GRCm39)	missense	probably benign	0.15
R3719:Trpm3	UTSW	19	22,964,354 (GRCm39)	missense	possibly damaging	0.95
R3766:Trpm3	UTSW	19	22,425,741 (GRCm39)	missense	probably benign
R3774:Trpm3	UTSW	19	22,965,339 (GRCm39)	missense	probably benign	0.03
R3774:Trpm3	UTSW	19	22,955,966 (GRCm39)	missense	possibly damaging	0.66
R3776:Trpm3	UTSW	19	22,955,966 (GRCm39)	missense	possibly damaging	0.66
R3820:Trpm3	UTSW	19	22,964,813 (GRCm39)	missense	probably benign	0.00
R3899:Trpm3	UTSW	19	22,878,524 (GRCm39)	missense	possibly damaging	0.90
R4204:Trpm3	UTSW	19	22,964,928 (GRCm39)	missense	probably benign	0.00
R4238:Trpm3	UTSW	19	22,956,002 (GRCm39)	missense	probably damaging	1.00
R4301:Trpm3	UTSW	19	22,964,656 (GRCm39)	missense	probably benign	0.23
R4344:Trpm3	UTSW	19	22,875,061 (GRCm39)	missense	probably damaging	0.99
R4345:Trpm3	UTSW	19	22,875,061 (GRCm39)	missense	probably damaging	0.99
R4365:Trpm3	UTSW	19	22,955,694 (GRCm39)	missense	probably benign	0.00
R4510:Trpm3	UTSW	19	22,965,381 (GRCm39)	missense	probably benign	0.00
R4511:Trpm3	UTSW	19	22,965,381 (GRCm39)	missense	probably benign	0.00
R4565:Trpm3	UTSW	19	22,965,233 (GRCm39)	missense	probably benign	0.00
R4573:Trpm3	UTSW	19	22,879,506 (GRCm39)	missense	probably damaging	1.00
R4606:Trpm3	UTSW	19	22,955,988 (GRCm39)	missense	probably benign	0.26
R4677:Trpm3	UTSW	19	22,964,752 (GRCm39)	missense	possibly damaging	0.95
R4684:Trpm3	UTSW	19	22,965,145 (GRCm39)	missense	probably benign
R4713:Trpm3	UTSW	19	22,866,799 (GRCm39)	missense	possibly damaging	0.83
R4745:Trpm3	UTSW	19	22,692,659 (GRCm39)	missense	possibly damaging	0.67
R5015:Trpm3	UTSW	19	22,689,076 (GRCm39)	missense	probably damaging	1.00
R5030:Trpm3	UTSW	19	22,676,130 (GRCm39)	missense	probably benign	0.01
R5074:Trpm3	UTSW	19	22,862,713 (GRCm39)	missense	possibly damaging	0.65
R5089:Trpm3	UTSW	19	22,744,120 (GRCm39)	missense	probably damaging	0.97
R5100:Trpm3	UTSW	19	22,896,130 (GRCm39)	missense	probably damaging	0.99
R5108:Trpm3	UTSW	19	22,882,078 (GRCm39)	missense	probably benign	0.06
R5204:Trpm3	UTSW	19	22,425,705 (GRCm39)	nonsense	probably null
R5213:Trpm3	UTSW	19	22,674,818 (GRCm39)	nonsense	probably null
R5358:Trpm3	UTSW	19	22,903,332 (GRCm39)	missense	probably damaging	1.00
R5374:Trpm3	UTSW	19	22,903,548 (GRCm39)	nonsense	probably null
R5382:Trpm3	UTSW	19	22,862,705 (GRCm39)	splice site	probably null
R5509:Trpm3	UTSW	19	22,964,622 (GRCm39)	missense	probably damaging	0.99
R5558:Trpm3	UTSW	19	22,955,937 (GRCm39)	missense	probably damaging	1.00
R6154:Trpm3	UTSW	19	22,965,178 (GRCm39)	missense	probably damaging	1.00
R6250:Trpm3	UTSW	19	22,887,418 (GRCm39)	missense	probably benign	0.01
R6433:Trpm3	UTSW	19	22,878,669 (GRCm39)	missense	probably damaging	1.00
R6542:Trpm3	UTSW	19	22,903,477 (GRCm39)	missense	probably benign	0.04
R6630:Trpm3	UTSW	19	22,965,347 (GRCm39)	missense	probably benign	0.00
R6640:Trpm3	UTSW	19	22,955,946 (GRCm39)	missense	probably damaging	1.00
R6725:Trpm3	UTSW	19	22,903,392 (GRCm39)	missense	probably damaging	1.00
R7275:Trpm3	UTSW	19	22,956,048 (GRCm39)	missense	possibly damaging	0.71
R7371:Trpm3	UTSW	19	22,879,557 (GRCm39)	missense	probably benign	0.27
R7467:Trpm3	UTSW	19	22,955,698 (GRCm39)	missense	possibly damaging	0.82
R7488:Trpm3	UTSW	19	22,955,937 (GRCm39)	missense	probably damaging	1.00
R7495:Trpm3	UTSW	19	22,875,160 (GRCm39)	missense	probably benign	0.28
R7600:Trpm3	UTSW	19	22,903,458 (GRCm39)	missense	possibly damaging	0.68
R7710:Trpm3	UTSW	19	22,896,154 (GRCm39)	missense	probably damaging	0.97
R7877:Trpm3	UTSW	19	22,882,148 (GRCm39)	missense	probably benign	0.25
R8184:Trpm3	UTSW	19	22,896,060 (GRCm39)	missense	possibly damaging	0.46
R8234:Trpm3	UTSW	19	22,692,640 (GRCm39)	missense	possibly damaging	0.47
R8236:Trpm3	UTSW	19	22,964,772 (GRCm39)	missense	probably benign	0.00
R8443:Trpm3	UTSW	19	22,676,226 (GRCm39)	missense	possibly damaging	0.90
R8470:Trpm3	UTSW	19	22,887,501 (GRCm39)	missense	possibly damaging	0.91
R8784:Trpm3	UTSW	19	22,896,040 (GRCm39)	missense	probably benign	0.07
R8816:Trpm3	UTSW	19	22,965,580 (GRCm39)	missense	probably damaging	0.97
R8818:Trpm3	UTSW	19	22,955,952 (GRCm39)	missense	possibly damaging	0.81
R8875:Trpm3	UTSW	19	22,887,493 (GRCm39)	missense	probably damaging	1.00
R8931:Trpm3	UTSW	19	22,744,034 (GRCm39)	missense	probably damaging	1.00
R8969:Trpm3	UTSW	19	22,903,308 (GRCm39)	missense	probably damaging	0.98
R8987:Trpm3	UTSW	19	22,896,124 (GRCm39)	missense	probably damaging	1.00
R9300:Trpm3	UTSW	19	22,955,745 (GRCm39)	missense	possibly damaging	0.49
R9327:Trpm3	UTSW	19	22,896,004 (GRCm39)	missense	possibly damaging	0.56
R9354:Trpm3	UTSW	19	22,425,696 (GRCm39)	missense	probably benign
R9514:Trpm3	UTSW	19	22,960,040 (GRCm39)	missense	probably benign	0.42
R9545:Trpm3	UTSW	19	22,878,458 (GRCm39)	missense	probably benign	0.24
R9712:Trpm3	UTSW	19	22,692,716 (GRCm39)	missense	possibly damaging	0.55
R9721:Trpm3	UTSW	19	22,866,762 (GRCm39)	missense	probably benign	0.00
R9750:Trpm3	UTSW	19	22,903,495 (GRCm39)	missense	probably benign	0.00
Z1176:Trpm3	UTSW	19	22,964,854 (GRCm39)	missense	probably benign

Posted On

2012-12-06