Incidental Mutation 'R4057:P2ry10'
ID 314311
Institutional Source Beutler Lab
Gene Symbol P2ry10
Ensembl Gene ENSMUSG00000050921
Gene Name purinergic receptor P2Y, G-protein coupled 10
Synonyms 5830408N17Rik, P2Y10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R4057 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 106132098-106148580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106146862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 266 (C266R)
Ref Sequence ENSEMBL: ENSMUSP00000113507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053375] [ENSMUST00000118666]
AlphaFold Q8BFU7
Predicted Effect probably damaging
Transcript: ENSMUST00000053375
AA Change: C266R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061296
Gene: ENSMUSG00000050921
AA Change: C266R

DomainStartEndE-ValueType
Pfam:7tm_1 39 294 1.1e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118666
AA Change: C266R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113507
Gene: ENSMUSG00000050921
AA Change: C266R

DomainStartEndE-ValueType
Pfam:7tm_1 39 294 2.2e-38 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000150494
AA Change: C330R
SMART Domains Protein: ENSMUSP00000115201
Gene: ENSMUSG00000050921
AA Change: C330R

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:7tm_1 104 359 3.1e-31 PFAM
Meta Mutation Damage Score 0.9341 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 95% (36/38)
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 G-protein coupled receptors that are preferentially activated by adenosine and uridine nucleotides. There is a pseudogene for this gene nearby on chromosome X. Multiple alternatively spliced transcripts have been observed. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 36,270,807 (GRCm39) I510T possibly damaging Het
Asb2 A G 12: 103,291,653 (GRCm39) Y377H probably benign Het
Cars1 T C 7: 143,124,385 (GRCm39) E347G probably damaging Het
Cfap91 A G 16: 38,118,576 (GRCm39) V741A probably benign Het
Cplane1 T A 15: 8,248,509 (GRCm39) M1686K probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dst T C 1: 34,225,135 (GRCm39) probably benign Het
Emcn C A 3: 137,085,660 (GRCm39) T86K probably damaging Het
Fcgbp A T 7: 27,803,541 (GRCm39) Q1715L probably benign Het
Hmcn2 A G 2: 31,290,250 (GRCm39) Y2361C probably damaging Het
Hpse2 T C 19: 43,282,714 (GRCm39) K180E probably damaging Het
Ints2 A C 11: 86,133,778 (GRCm39) L424R probably damaging Het
Kalrn A T 16: 34,134,579 (GRCm39) I401N probably damaging Het
Ltbp1 G T 17: 75,617,189 (GRCm39) G725C probably damaging Het
Myo3a T A 2: 22,270,971 (GRCm39) M144K probably benign Het
Nav3 A T 10: 109,716,394 (GRCm39) probably null Het
Neb A T 2: 52,096,711 (GRCm39) V5000D possibly damaging Het
Neb G T 2: 52,127,120 (GRCm39) A3534E probably benign Het
Nlrp9a T A 7: 26,270,071 (GRCm39) C833S probably benign Het
Npas1 C A 7: 16,208,712 (GRCm39) R55L probably damaging Het
Or52n20 A G 7: 104,320,476 (GRCm39) K189R probably damaging Het
Pcdh1 T C 18: 38,331,950 (GRCm39) E351G probably damaging Het
Plce1 A T 19: 38,748,563 (GRCm39) R1751W probably damaging Het
Plekhn1 T C 4: 156,309,150 (GRCm39) probably null Het
Por A G 5: 135,760,428 (GRCm39) Y245C probably damaging Het
Ptprm A C 17: 67,382,658 (GRCm39) I158S possibly damaging Het
Rsf1 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sbf2 T C 7: 110,040,673 (GRCm39) I385V probably damaging Het
Serpina3m A C 12: 104,357,996 (GRCm39) probably benign Het
Sox5 G T 6: 144,062,248 (GRCm39) R135S probably damaging Het
Stag2 A G X: 41,313,819 (GRCm39) T228A probably damaging Het
Wif1 G A 10: 120,918,099 (GRCm39) V156I probably benign Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Other mutations in P2ry10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00715:P2ry10 APN X 106,146,189 (GRCm39) missense probably damaging 0.99
IGL02593:P2ry10 APN X 106,146,302 (GRCm39) missense possibly damaging 0.91
R2011:P2ry10 UTSW X 106,146,241 (GRCm39) missense probably damaging 1.00
R2069:P2ry10 UTSW X 106,146,859 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- CTGGTCACCATGGTTGTAATTG -3'
(R):5'- ACTCTCCCTGCTCATGAGAC -3'

Sequencing Primer
(F):5'- GTGATTCCAGTGATCACCATTGCATG -3'
(R):5'- CCTGCTCATGAGACGAGAACG -3'
Posted On 2015-04-30