Mutagenetix > Incidental Mutation

Incidental Mutation 'R1537:P2rx3'

169572

Institutional Source

Beutler Lab

Gene Symbol

P2rx3

Ensembl Gene

ENSMUSG00000027071

Gene Name

purinergic receptor P2X, ligand-gated ion channel, 3

Synonyms

P2X3, 4930513E20Rik

MMRRC Submission

039576-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1537 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84828927-84867806 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 84853825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028465] [ENSMUST00000111613] [ENSMUST00000111616]

AlphaFold

Q3UR32

Predicted Effect

probably null
Transcript: ENSMUST00000028465

SMART Domains

Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	8	367	1.6e-151	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111613

SMART Domains

Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	8	372	4.7e-162	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111616

SMART Domains

Protein: ENSMUSP00000107243
Gene: ENSMUSG00000027071

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	8	91	1.2e-32	PFAM
Pfam:P2X_receptor	86	350	3.3e-113	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145285

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

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 purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and may transduce ATP-evoked nociceptor activation. Mouse studies suggest that this receptor is important for peripheral pain responses, and also participates in pathways controlling urinary bladder volume reflexes. It is possible that the development of selective antagonists for this receptor may have a therapeutic potential in pain relief and in the treatment of disorders of urine storage. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show normal ventilatory responses to hypoxia. Mice homozygous for a reporter allele show loss of rapidly desensitizing ATP-gated cation currents in dorsal root ganglion neurons, reduced formalin-evoked pain behavior, and enhanced thermal hyperalgesia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,124 (GRCm39)	H86L	possibly damaging	Het
4930519G04Rik	A	G	5: 115,008,278 (GRCm39)	T31A	probably benign	Het
Ahcyl1	A	G	3: 107,603,505 (GRCm39)	F30S	probably benign	Het
Alox5ap	G	A	5: 149,201,993 (GRCm39)		probably null	Het
Amtn	A	G	5: 88,526,729 (GRCm39)	S53G	probably null	Het
Arap3	A	T	18: 38,122,737 (GRCm39)		probably null	Het
Ash1l	T	A	3: 88,979,783 (GRCm39)	V2769E	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bhlha9	C	T	11: 76,563,457 (GRCm39)	S28L	probably benign	Het
Bltp2	T	A	11: 78,180,169 (GRCm39)	Y2150N	probably damaging	Het
Bmpr2	A	G	1: 59,907,285 (GRCm39)	T793A	probably benign	Het
Ccdc80	G	A	16: 44,916,299 (GRCm39)	A352T	probably benign	Het
Chst2	A	T	9: 95,288,194 (GRCm39)	F51I	probably benign	Het
Col14a1	A	G	15: 55,244,163 (GRCm39)	N412S	unknown	Het
Dclk2	T	C	3: 86,713,491 (GRCm39)	I451V	probably damaging	Het
Ddb2	A	G	2: 91,065,234 (GRCm39)	S64P	probably benign	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,748,504 (GRCm39)	E870G	probably damaging	Het
Dusp4	G	T	8: 35,285,570 (GRCm39)	R277L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Garem1	A	T	18: 21,301,931 (GRCm39)		probably null	Het
Gnpat	A	G	8: 125,597,555 (GRCm39)	E39G	probably damaging	Het
Golgb1	A	T	16: 36,719,150 (GRCm39)	Q352L	possibly damaging	Het
Hdlbp	T	C	1: 93,345,096 (GRCm39)	D803G	probably benign	Het
Hps1	A	G	19: 42,748,143 (GRCm39)		probably null	Het
Ilvbl	G	A	10: 78,415,565 (GRCm39)	R327H	probably benign	Het
Itpr3	A	G	17: 27,333,121 (GRCm39)	D1911G	possibly damaging	Het
Lmo7	T	A	14: 102,166,700 (GRCm39)		probably benign	Het
Mcm10	G	A	2: 5,003,591 (GRCm39)	T542I	possibly damaging	Het
Med1	A	G	11: 98,051,772 (GRCm39)	V497A	probably damaging	Het
Mn1	G	A	5: 111,602,646 (GRCm39)	A1295T	probably damaging	Het
Myh7b	A	C	2: 155,473,707 (GRCm39)	D1580A	probably damaging	Het
Naa20	A	G	2: 145,754,438 (GRCm39)	I101V	probably benign	Het
Nav3	T	C	10: 109,702,846 (GRCm39)	Y229C	probably damaging	Het
Obscn	T	C	11: 58,891,575 (GRCm39)	R6986G	unknown	Het
Or51h7	G	A	7: 102,591,547 (GRCm39)	T79I	probably damaging	Het
Or8b4	A	G	9: 37,830,570 (GRCm39)	I211V	probably benign	Het
Pcdhac2	G	A	18: 37,279,539 (GRCm39)	G840R	possibly damaging	Het
Pclo	A	G	5: 14,762,489 (GRCm39)	N3654S	unknown	Het
Pcnx2	T	A	8: 126,604,188 (GRCm39)	E689D	possibly damaging	Het
Pds5a	A	G	5: 65,804,464 (GRCm39)	S532P	probably benign	Het
Phf1	G	A	17: 27,154,372 (GRCm39)		probably null	Het
Pkp4	G	A	2: 59,045,147 (GRCm39)	V41M	probably damaging	Het
Prlr	T	G	15: 10,328,364 (GRCm39)		probably null	Het
Prr12	G	T	7: 44,678,366 (GRCm39)	A1954D	unknown	Het
Prtg	A	G	9: 72,717,039 (GRCm39)	T127A	probably benign	Het
Ptprh	A	G	7: 4,552,698 (GRCm39)	L884P	probably damaging	Het
Rnf170	T	A	8: 26,629,076 (GRCm39)	D183E	probably benign	Het
Rrp12	A	T	19: 41,875,242 (GRCm39)	H339Q	probably damaging	Het
Rubcnl	T	G	14: 75,278,267 (GRCm39)	S350R	possibly damaging	Het
Sgo2b	T	A	8: 64,379,536 (GRCm39)	T1099S	possibly damaging	Het
Ska2	T	C	11: 87,006,945 (GRCm39)	S17P	probably damaging	Het
Slc38a2	A	G	15: 96,591,034 (GRCm39)	I243T	possibly damaging	Het
Sptan1	T	A	2: 29,916,034 (GRCm39)	D2007E	possibly damaging	Het
Taar5	T	A	10: 23,846,620 (GRCm39)	L6H	probably benign	Het
Tbata	G	T	10: 61,019,270 (GRCm39)		probably null	Het
Tent2	C	T	13: 93,312,076 (GRCm39)	G208D	probably damaging	Het
Tmem107	T	C	11: 68,963,284 (GRCm39)	S98P	probably damaging	Het
Tpst2	A	G	5: 112,456,286 (GRCm39)	D275G	possibly damaging	Het
Ttc28	G	T	5: 111,433,184 (GRCm39)	G2073W	probably damaging	Het
Ttc7	T	C	17: 87,629,891 (GRCm39)	V291A	possibly damaging	Het
Vps13b	T	A	15: 35,792,327 (GRCm39)	N2198K	possibly damaging	Het
Wdr37	A	T	13: 8,887,039 (GRCm39)	D249E	probably benign	Het
Xirp2	G	T	2: 67,340,357 (GRCm39)	C866F	probably damaging	Het
Zfp990	A	G	4: 145,263,566 (GRCm39)	E188G	possibly damaging	Het
Zkscan2	A	G	7: 123,099,064 (GRCm39)	S43P	possibly damaging	Het
Zscan5b	A	G	7: 6,236,850 (GRCm39)	R200G	probably benign	Het

Other mutations in P2rx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:P2rx3	APN	2	84,865,616 (GRCm39)	missense	probably damaging	1.00
IGL01775:P2rx3	APN	2	84,854,501 (GRCm39)	missense	probably benign
IGL01897:P2rx3	APN	2	84,853,825 (GRCm39)	critical splice donor site	probably benign
IGL02399:P2rx3	APN	2	84,853,571 (GRCm39)	missense	probably benign
R0928:P2rx3	UTSW	2	84,865,642 (GRCm39)	start codon destroyed	probably null	0.98
R1428:P2rx3	UTSW	2	84,855,294 (GRCm39)	missense	possibly damaging	0.91
R1678:P2rx3	UTSW	2	84,852,811 (GRCm39)	missense	possibly damaging	0.90
R4332:P2rx3	UTSW	2	84,855,205 (GRCm39)	missense	probably benign	0.25
R4897:P2rx3	UTSW	2	84,855,270 (GRCm39)	missense	probably damaging	1.00
R5052:P2rx3	UTSW	2	84,829,368 (GRCm39)	missense	probably benign	0.01
R5903:P2rx3	UTSW	2	84,831,071 (GRCm39)	missense	possibly damaging	0.93
R5917:P2rx3	UTSW	2	84,865,591 (GRCm39)	missense	probably damaging	1.00
R6614:P2rx3	UTSW	2	84,865,543 (GRCm39)	missense	probably damaging	1.00
R8250:P2rx3	UTSW	2	84,852,735 (GRCm39)	missense	probably damaging	1.00
R8512:P2rx3	UTSW	2	84,854,755 (GRCm39)	missense	probably damaging	0.98
R8953:P2rx3	UTSW	2	84,853,842 (GRCm39)	missense	possibly damaging	0.61
R9237:P2rx3	UTSW	2	84,853,896 (GRCm39)	missense	probably benign	0.02
Z1177:P2rx3	UTSW	2	84,852,820 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- AGGGAAACGGATGCTGTTCTTGATG -3'
(R):5'- GGCTTCAAAGCCCTCCTAGAAGTG -3'

Sequencing Primer
(F):5'- TGAAAATGGTGAAGTTCTCGGC -3'
(R):5'- cagaggcaaggaagaaggg -3'

Posted On

2014-04-13