Mutagenetix > Incidental Mutation

Incidental Mutation 'R6678:P2rx6'

527362

Institutional Source

Beutler Lab

Gene Symbol

P2rx6

Ensembl Gene

ENSMUSG00000022758

Gene Name

purinergic receptor P2X, ligand-gated ion channel, 6

Synonyms

P2rxl1, P2xm

MMRRC Submission

044797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17379729-17389879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17388820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 360 (N360K)

Ref Sequence

ENSEMBL: ENSMUSP00000132727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000063544] [ENSMUST00000168383] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231283] [ENSMUST00000231552] [ENSMUST00000231806] [ENSMUST00000232226] [ENSMUST00000232336] [ENSMUST00000232385] [ENSMUST00000231615] [ENSMUST00000232186] [ENSMUST00000231645]

AlphaFold

O54803

Predicted Effect

probably benign
Transcript: ENSMUST00000023441
AA Change: N387K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758
AA Change: N387K

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
Pfam:P2X_receptor	25	385	7.9e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063544

SMART Domains

Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	37	436	1.4e-49	PFAM
Pfam:AA_permease	41	426	9.4e-38	PFAM
transmembrane domain	476	498	N/A	INTRINSIC
transmembrane domain	508	530	N/A	INTRINSIC
Pfam:AA_permease_C	540	590	1.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168383

SMART Domains

Protein: ENSMUSP00000130079
Gene: ENSMUSG00000022758

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
Pfam:P2X_receptor	25	266	4.2e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171002
AA Change: N360K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758
AA Change: N360K

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
Pfam:P2X_receptor	25	197	1e-65	PFAM
Pfam:P2X_receptor	185	362	7e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172164

SMART Domains

Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	37	498	2.6e-46	PFAM
Pfam:AA_permease	41	423	4.5e-36	PFAM
transmembrane domain	508	530	N/A	INTRINSIC
Pfam:AA_permease_C	540	590	1.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231283

Predicted Effect

probably benign
Transcript: ENSMUST00000231552

Predicted Effect

probably benign
Transcript: ENSMUST00000231806

Predicted Effect

probably benign
Transcript: ENSMUST00000232226

Predicted Effect

probably benign
Transcript: ENSMUST00000232336

Predicted Effect

probably benign
Transcript: ENSMUST00000232385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232429

Predicted Effect

probably benign
Transcript: ENSMUST00000231615

Predicted Effect

probably benign
Transcript: ENSMUST00000232186

Predicted Effect

probably benign
Transcript: ENSMUST00000231645

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

97% (37/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutant mice exhibit a significant increase in thermal response latency during hot plate testing, and are resistant to metrazol-induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,499,891 (GRCm39)	N644S	possibly damaging	Het
Agl	C	A	3: 116,546,969 (GRCm39)	V1294F	probably damaging	Het
Ash2l	A	C	8: 26,323,805 (GRCm39)	W125G	probably damaging	Het
Dap	C	T	15: 31,273,396 (GRCm39)	T51M	probably benign	Het
Dnah12	G	A	14: 26,456,847 (GRCm39)	R871H	probably damaging	Het
Filip1l	T	C	16: 57,390,333 (GRCm39)	I307T	probably benign	Het
Gdap1l1	T	A	2: 163,280,574 (GRCm39)	S37T	probably benign	Het
Gm43302	G	T	5: 105,438,820 (GRCm39)	Q23K	probably benign	Het
Golga2	T	C	2: 32,189,072 (GRCm39)	V227A	probably damaging	Het
Gramd4	A	T	15: 85,975,704 (GRCm39)	S74C	probably damaging	Het
Gramd4	G	C	15: 85,975,705 (GRCm39)	S74T	possibly damaging	Het
Hsph1	A	C	5: 149,541,962 (GRCm39)	S755A	probably benign	Het
Inppl1	A	G	7: 101,481,477 (GRCm39)	V235A	probably damaging	Het
Kcnc1	A	G	7: 46,047,229 (GRCm39)	H43R	probably benign	Het
Klhl41	T	G	2: 69,501,188 (GRCm39)	S216R	probably benign	Het
Kmt2e	A	G	5: 23,704,293 (GRCm39)	E1162G	possibly damaging	Het
Lrp1	G	A	10: 127,396,005 (GRCm39)	H2422Y	probably damaging	Het
Ms4a13	T	C	19: 11,161,222 (GRCm39)	I106V	probably benign	Het
Myo1f	G	A	17: 33,794,819 (GRCm39)	D20N	probably damaging	Het
Ndel1	T	C	11: 68,724,239 (GRCm39)	T245A	possibly damaging	Het
Or5al1	A	T	2: 85,990,529 (GRCm39)	F62I	probably damaging	Het
Pcdhgb5	C	T	18: 37,864,255 (GRCm39)	L17F	probably damaging	Het
Plcl1	A	G	1: 55,734,935 (GRCm39)	K92R	probably benign	Het
Prelp	C	T	1: 133,842,513 (GRCm39)	D211N	probably benign	Het
Rgl1	T	C	1: 152,400,475 (GRCm39)	Y677C	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rreb1	G	T	13: 38,083,675 (GRCm39)	D113Y	probably damaging	Het
Sf1	T	A	19: 6,424,543 (GRCm39)		probably null	Het
Sh3bp1	T	C	15: 78,792,714 (GRCm39)		probably null	Het
Shprh	T	A	10: 11,042,289 (GRCm39)	D757E	probably benign	Het
Slc6a1	A	G	6: 114,284,737 (GRCm39)	K81R	probably benign	Het
Spata31e4	A	G	13: 50,855,946 (GRCm39)	K528R	probably benign	Het
Ttc22	T	A	4: 106,480,242 (GRCm39)	S165R	probably benign	Het
Vmn1r113	G	A	7: 20,521,903 (GRCm39)	G232S	probably benign	Het
Vwa7	C	A	17: 35,238,776 (GRCm39)	A288D	probably damaging	Het
Wdpcp	A	G	11: 21,671,105 (GRCm39)	I449V	probably benign	Het
Wdsub1	G	A	2: 59,692,975 (GRCm39)	T313I	probably benign	Het
Zyg11a	A	G	4: 108,046,878 (GRCm39)	V532A	probably benign	Het

Other mutations in P2rx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02029:P2rx6	APN	16	17,385,959 (GRCm39)	missense	probably benign	0.00
IGL02928:P2rx6	APN	16	17,382,901 (GRCm39)	unclassified	probably benign
IGL03372:P2rx6	APN	16	17,385,356 (GRCm39)	missense	probably damaging	0.99
R0504:P2rx6	UTSW	16	17,385,291 (GRCm39)	splice site	probably benign
R0534:P2rx6	UTSW	16	17,385,768 (GRCm39)	missense	probably damaging	1.00
R0538:P2rx6	UTSW	16	17,386,162 (GRCm39)	missense	probably benign	0.08
R4232:P2rx6	UTSW	16	17,388,631 (GRCm39)	missense	probably damaging	1.00
R4952:P2rx6	UTSW	16	17,385,308 (GRCm39)	missense	probably damaging	1.00
R5108:P2rx6	UTSW	16	17,380,037 (GRCm39)	missense	probably damaging	1.00
R6675:P2rx6	UTSW	16	17,380,032 (GRCm39)	missense	probably benign	0.02
R9016:P2rx6	UTSW	16	17,385,304 (GRCm39)	missense	possibly damaging	0.79
R9037:P2rx6	UTSW	16	17,388,307 (GRCm39)	missense	possibly damaging	0.63
R9111:P2rx6	UTSW	16	17,385,627 (GRCm39)	missense	probably benign	0.00
R9568:P2rx6	UTSW	16	17,385,300 (GRCm39)	critical splice acceptor site	probably null
Z1176:P2rx6	UTSW	16	17,385,919 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGCTGCTACTGTATGTG -3'
(R):5'- CTTTAACCAGCAGGGAGAGG -3'

Sequencing Primer
(F):5'- GATAGAGAGGCCGGTTTCTAC -3'
(R):5'- GGGTGTAAGCCTCAGGAATG -3'

Posted On

2018-07-23