Mutagenetix > Incidental Mutation

Incidental Mutation 'R9545:Trpm3'

720090

Institutional Source

Beutler Lab

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: 0.081) question?

Stock #

R9545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22116410-22972774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22878458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 632 (E632K)

Ref Sequence

ENSEMBL: ENSMUSP00000084857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037901] [ENSMUST00000074770] [ENSMUST00000087576] [ENSMUST00000099564] [ENSMUST00000099569]

AlphaFold

J9S314

Predicted Effect

probably benign
Transcript: ENSMUST00000037901
AA Change: E630K

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042184
Gene: ENSMUSG00000052387
AA Change: E630K

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

probably benign
Transcript: ENSMUST00000074770
AA Change: E622K

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074328
Gene: ENSMUSG00000052387
AA Change: E622K

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: E632K

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000084857
Gene: ENSMUSG00000052387
AA Change: E632K

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

probably benign
Transcript: ENSMUST00000099564
AA Change: E462K

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097160
Gene: ENSMUSG00000052387
AA Change: E462K

Domain	Start	End	E-Value	Type
low complexity region	451	463	N/A	INTRINSIC
low complexity region	506	521	N/A	INTRINSIC
low complexity region	620	632	N/A	INTRINSIC
low complexity region	653	672	N/A	INTRINSIC
transmembrane domain	714	736	N/A	INTRINSIC
Pfam:Ion_trans	748	919	1.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099569
AA Change: E620K

PolyPhen 2 Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097164
Gene: ENSMUSG00000052387
AA Change: E620K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,416,538 (GRCm39)	L4100Q	probably damaging	Het
Acss2	C	A	2: 155,403,716 (GRCm39)	P652T	probably damaging	Het
Agl	A	T	3: 116,582,338 (GRCm39)	I228N	possibly damaging	Het
Ap5m1	C	G	14: 49,311,271 (GRCm39)	Q114E	possibly damaging	Het
Apob	C	T	12: 8,033,890 (GRCm39)	T201I	possibly damaging	Het
As3mt	G	A	19: 46,696,233 (GRCm39)	V14I	probably damaging	Het
Atp1a4	T	C	1: 172,078,464 (GRCm39)	N258S	probably benign	Het
Atxn1l	C	T	8: 110,458,688 (GRCm39)	V525M	probably damaging	Het
B4galnt4	T	C	7: 140,644,804 (GRCm39)	V208A	probably benign	Het
Bet1	A	T	6: 4,077,973 (GRCm39)	S89T	probably damaging	Het
Cdhr1	T	G	14: 36,817,016 (GRCm39)	N115T	possibly damaging	Het
Cstf1	C	T	2: 172,212,885 (GRCm39)		probably benign	Het
Dcdc2c	G	T	12: 28,602,295 (GRCm39)	T3K	possibly damaging	Het
Deup1	C	T	9: 15,519,120 (GRCm39)	E129K	possibly damaging	Het
Dgkg	T	C	16: 22,385,168 (GRCm39)	E446G	possibly damaging	Het
Dolk	A	G	2: 30,176,016 (GRCm39)	S10P	probably benign	Het
Gm1110	T	C	9: 26,800,977 (GRCm39)	T406A	probably benign	Het
Gm8439	C	T	4: 120,445,957 (GRCm39)		probably benign	Het
Gna12	A	G	5: 140,746,575 (GRCm39)	I290T	probably damaging	Het
Gtf2h1	T	C	7: 46,458,112 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Kcnc3	T	C	7: 44,245,357 (GRCm39)	L549P	probably damaging	Het
Klhl26	T	C	8: 70,904,164 (GRCm39)	D582G	probably damaging	Het
Lhfpl5	C	A	17: 28,799,079 (GRCm39)	A196D	probably damaging	Het
Lipm	T	C	19: 34,090,392 (GRCm39)	M191T	probably benign	Het
Lrp6	A	G	6: 134,483,329 (GRCm39)	Y459H	probably damaging	Het
Lzts1	C	A	8: 69,591,286 (GRCm39)	K287N	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mmp23	T	A	4: 155,735,980 (GRCm39)	Q224L	probably benign	Het
Ms4a13	C	G	19: 11,147,332 (GRCm39)	S194T	unknown	Het
Ms4a2	A	G	19: 11,596,237 (GRCm39)	F164S	probably benign	Het
Nudt15	A	T	14: 73,760,918 (GRCm39)	C58S	probably damaging	Het
Or2w25	A	G	11: 59,504,275 (GRCm39)	T162A	probably benign	Het
Or8h6	T	C	2: 86,703,615 (GRCm39)	I151V	probably benign	Het
Or9i1	A	G	19: 13,839,217 (GRCm39)	H20R	possibly damaging	Het
Panx3	A	G	9: 37,575,437 (GRCm39)	F142L	probably damaging	Het
Pik3r6	T	C	11: 68,422,365 (GRCm39)	Y255H	probably damaging	Het
Pnpt1	T	C	11: 29,106,840 (GRCm39)	V637A	probably benign	Het
Ppfibp2	T	C	7: 107,337,504 (GRCm39)	L602P	probably damaging	Het
Ppp2r3d	T	C	9: 101,089,214 (GRCm39)	N370D	probably benign	Het
Ppp2r5d	A	T	17: 46,995,687 (GRCm39)	I454N	probably damaging	Het
Pramel17	C	A	4: 101,693,097 (GRCm39)	C301F	probably damaging	Het
Radil	A	G	5: 142,492,392 (GRCm39)	V412A	probably benign	Het
Reep3	TTGACAGATTTCATG	TTG	10: 66,850,703 (GRCm39)		probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic3	T	A	13: 76,259,832 (GRCm39)	V44D	probably damaging	Het
Spink5	G	A	18: 44,136,262 (GRCm39)	V558I	possibly damaging	Het
Stxbp5l	T	C	16: 37,028,625 (GRCm39)		probably null	Het
Svs5	T	A	2: 164,079,313 (GRCm39)	Q198L	possibly damaging	Het
Thap2	A	T	10: 115,208,834 (GRCm39)	N95K	probably benign	Het
Tie1	A	G	4: 118,336,112 (GRCm39)	V718A	probably benign	Het
Ube4a	A	T	9: 44,843,638 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,618,511 (GRCm39)	I1163T	probably benign	Het
Vav2	C	T	2: 27,173,351 (GRCm39)	R491Q	probably damaging	Het
Wapl	T	A	14: 34,399,050 (GRCm39)	F40I	probably damaging	Het
Wdfy3	A	C	5: 102,100,957 (GRCm39)	I220R		Het
Xrra1	T	A	7: 99,535,334 (GRCm39)	V213D	possibly damaging	Het
Zwilch	A	T	9: 64,051,415 (GRCm39)	V550E	probably damaging	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
IGL00852:Trpm3	APN	19	22,964,435 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCCCCTGAAGGAGCTTATG -3'
(R):5'- ATTCTCAGAAGCCTCGTGAG -3'

Sequencing Primer
(F):5'- CCCTGAAGGAGCTTATGAGTCTC -3'
(R):5'- TCAGAAGCCTCGTGAGCCATG -3'

Posted On

2022-07-18