Mutagenetix > Incidental Mutation

Incidental Mutation 'R5917:P2rx3'

461372

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

044114-MU

Accession Numbers

Essential gene?

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

Stock #

R5917 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84828927-84867806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84865591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 18 (V18E)

Ref Sequence

ENSEMBL: ENSMUSP00000107243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028465] [ENSMUST00000077798] [ENSMUST00000111613] [ENSMUST00000111616] [ENSMUST00000130729] [ENSMUST00000168266]

AlphaFold

Q3UR32

Predicted Effect

probably damaging
Transcript: ENSMUST00000028465
AA Change: V18E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028465
Gene: ENSMUSG00000027071
AA Change: V18E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000077798

SMART Domains

Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067

Domain	Start	End	E-Value	Type
Pfam:SSrecog	74	285	1.7e-105	PFAM
Rtt106	338	428	4.76e-41	SMART
low complexity region	469	481	N/A	INTRINSIC
low complexity region	486	514	N/A	INTRINSIC
low complexity region	521	542	N/A	INTRINSIC
HMG	546	616	1.9e-27	SMART
low complexity region	621	691	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111613
AA Change: V18E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071
AA Change: V18E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111616
AA Change: V18E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107243
Gene: ENSMUSG00000027071
AA Change: V18E

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: ENSMUST00000123467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127839

Predicted Effect

probably benign
Transcript: ENSMUST00000130729

SMART Domains

Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067

Domain	Start	End	E-Value	Type
Pfam:SSrecog	74	285	5.7e-106	PFAM
Rtt106	338	428	4.76e-41	SMART
low complexity region	469	481	N/A	INTRINSIC
low complexity region	486	514	N/A	INTRINSIC
low complexity region	521	542	N/A	INTRINSIC
HMG	546	616	1.9e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146530

Predicted Effect

probably benign
Transcript: ENSMUST00000168266

SMART Domains

Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067

Domain	Start	End	E-Value	Type
Pfam:SSrecog	75	284	8.8e-91	PFAM
Rtt106	338	428	4.76e-41	SMART
low complexity region	469	481	N/A	INTRINSIC
low complexity region	486	514	N/A	INTRINSIC
low complexity region	521	542	N/A	INTRINSIC
HMG	546	616	1.9e-27	SMART
low complexity region	621	691	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,516 (GRCm39)	R1153*	probably null	Het
Amdhd1	T	C	10: 93,360,332 (GRCm39)	H409R	possibly damaging	Het
Anks1b	C	T	10: 90,412,803 (GRCm39)		probably benign	Het
Ascc2	T	C	11: 4,631,506 (GRCm39)	L649P	probably benign	Het
Chst15	A	G	7: 131,872,246 (GRCm39)	F12L	probably benign	Het
Clec4a4	A	T	6: 122,981,017 (GRCm39)	K83N	probably benign	Het
Comp	T	A	8: 70,829,011 (GRCm39)		probably null	Het
Cryz	T	A	3: 154,327,403 (GRCm39)	S144T	probably benign	Het
Ctss	A	G	3: 95,450,424 (GRCm39)	D125G	probably benign	Het
Dact1	G	T	12: 71,365,456 (GRCm39)	V746L	possibly damaging	Het
Dhx29	A	G	13: 113,099,377 (GRCm39)	H1134R	probably damaging	Het
Dlgap4	A	G	2: 156,546,460 (GRCm39)	D376G	probably damaging	Het
Dnah3	T	A	7: 119,615,749 (GRCm39)	H1660L	probably damaging	Het
Ep300	T	A	15: 81,512,808 (GRCm39)		probably benign	Het
Fbxo30	A	T	10: 11,165,262 (GRCm39)		probably null	Het
Fcrl2	T	A	3: 87,164,094 (GRCm39)	H345L	probably damaging	Het
Galnt11	C	A	5: 25,452,670 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,682,846 (GRCm39)	C87R	probably benign	Het
Itga4	A	T	2: 79,117,442 (GRCm39)	Q416L	probably damaging	Het
Kcnt2	A	T	1: 140,461,666 (GRCm39)	T806S	probably damaging	Het
Lama2	A	G	10: 27,066,693 (GRCm39)	S1063P	probably damaging	Het
Lama4	T	A	10: 38,924,028 (GRCm39)	S479T	probably benign	Het
Lgi4	C	T	7: 30,759,603 (GRCm39)	T53M	possibly damaging	Het
Limk1	A	G	5: 134,686,789 (GRCm39)	F533L	probably damaging	Het
Loxl1	A	G	9: 58,220,006 (GRCm39)	L55P	probably damaging	Het
Map1a	A	G	2: 121,135,697 (GRCm39)	E1933G	probably damaging	Het
Matn2	T	A	15: 34,409,912 (GRCm39)	C447*	probably null	Het
Mmrn1	T	C	6: 60,950,134 (GRCm39)		probably null	Het
Or2a7	C	T	6: 43,151,646 (GRCm39)	S242F	probably damaging	Het
Or4a66	A	T	2: 88,531,049 (GRCm39)	I208N	possibly damaging	Het
Or4d1	A	T	11: 87,805,215 (GRCm39)	N172K	probably damaging	Het
Otor	A	G	2: 142,920,431 (GRCm39)	I4M	probably benign	Het
Pcdh7	T	C	5: 57,879,097 (GRCm39)	V884A	probably damaging	Het
Pcdhb4	T	A	18: 37,442,619 (GRCm39)	V643D	probably damaging	Het
Pelo	A	G	13: 115,225,930 (GRCm39)	S176P	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,183 (GRCm39)	V380E	probably benign	Het
Proc	T	A	18: 32,260,513 (GRCm39)	D204V	probably benign	Het
Prpsap2	C	T	11: 61,627,870 (GRCm39)	R202H	probably damaging	Het
Resf1	T	C	6: 149,236,179 (GRCm39)	F1500L	probably damaging	Het
Rtl1	T	G	12: 109,558,087 (GRCm39)	T1251P	possibly damaging	Het
Sema6a	T	G	18: 47,414,405 (GRCm39)	I482L	probably benign	Het
Smpdl3a	T	A	10: 57,681,654 (GRCm39)		probably null	Het
Strc	T	A	2: 121,209,790 (GRCm39)	M178L	probably benign	Het
Taok1	A	T	11: 77,451,144 (GRCm39)	M312K	probably damaging	Het
Tle2	T	C	10: 81,416,750 (GRCm39)		probably null	Het
Tle3	A	G	9: 61,316,190 (GRCm39)	D296G	probably benign	Het
Trank1	A	G	9: 111,191,485 (GRCm39)	D498G	probably benign	Het
Vars1	C	A	17: 35,231,491 (GRCm39)	L672M	probably damaging	Het
Vps13d	G	A	4: 144,826,580 (GRCm39)	T2866I	probably damaging	Het
Zfp423	C	A	8: 88,508,860 (GRCm39)	E370*	probably null	Het
Zfp521	T	A	18: 13,978,612 (GRCm39)	K600N	probably damaging	Het
Zfp788	A	G	7: 41,298,572 (GRCm39)	K351E	probably benign	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	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
R1537:P2rx3	UTSW	2	84,853,825 (GRCm39)	critical splice donor site	probably null
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
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'- GGACATGGCTCCCACAAATC -3'
(R):5'- CAGTTGCCTGGCTTATAGGAAC -3'

Sequencing Primer
(F):5'- TGGCTCCCACAAATCAAAGTGTTTC -3'
(R):5'- CCTGGCTTATAGGAACTGGCTC -3'

Posted On

2017-02-28