Incidental Mutation 'R4452:P2ry10b'
ID 329032
Institutional Source Beutler Lab
Gene Symbol P2ry10b
Ensembl Gene ENSMUSG00000054293
Gene Name purinergic receptor P2Y, G-protein coupled 10B
Synonyms A630033H20Rik
MMRRC Submission 041713-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.035) question?
Stock # R4452 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 106192533-106217267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 106214724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 28 (T28I)
Ref Sequence ENSEMBL: ENSMUSP00000122348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067249] [ENSMUST00000125676] [ENSMUST00000137107] [ENSMUST00000147521] [ENSMUST00000167673] [ENSMUST00000180182]
AlphaFold Q8BY68
Predicted Effect probably damaging
Transcript: ENSMUST00000067249
AA Change: T28I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065588
Gene: ENSMUSG00000054293
AA Change: T28I

DomainStartEndE-ValueType
Pfam:7tm_1 39 294 4.4e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119416
Predicted Effect probably damaging
Transcript: ENSMUST00000125676
AA Change: T28I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122347
Gene: ENSMUSG00000054293
AA Change: T28I

DomainStartEndE-ValueType
Pfam:7tm_1 39 130 1.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137107
AA Change: T28I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000147521
AA Change: T28I

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118187
Gene: ENSMUSG00000054293
AA Change: T28I

DomainStartEndE-ValueType
Pfam:7tm_1 39 122 1.5e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167673
AA Change: T28I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133122
Gene: ENSMUSG00000054293
AA Change: T28I

DomainStartEndE-ValueType
Pfam:7tm_1 39 294 4.4e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180182
AA Change: T28I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136348
Gene: ENSMUSG00000054293
AA Change: T28I

DomainStartEndE-ValueType
Pfam:7tm_1 39 294 6.7e-35 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,297,797 (GRCm39) T145A possibly damaging Het
Adgra1 G T 7: 139,432,437 (GRCm39) A92S probably benign Het
Aim2 A G 1: 173,283,010 (GRCm39) T31A possibly damaging Het
Cd46 G A 1: 194,767,668 (GRCm39) A131V possibly damaging Het
Cdc27 A T 11: 104,408,221 (GRCm39) M563K probably benign Het
Chd9 A T 8: 91,704,308 (GRCm39) N721I probably damaging Het
Cnn2 A G 10: 79,827,276 (GRCm39) D49G probably benign Het
Cul1 T A 6: 47,485,923 (GRCm39) Y323* probably null Het
D5Ertd579e A G 5: 36,773,814 (GRCm39) W194R probably damaging Het
Dhx15 G A 5: 52,324,074 (GRCm39) P406L probably benign Het
Dnah9 C T 11: 65,917,908 (GRCm39) A2249T probably damaging Het
Dppa4 T A 16: 48,109,699 (GRCm39) D106E probably benign Het
Gja10 A G 4: 32,601,313 (GRCm39) V357A probably benign Het
Gm20481 T G 17: 35,191,109 (GRCm39) probably benign Het
Grxcr2 T C 18: 42,119,609 (GRCm39) N244D probably damaging Het
Klk1b11 T A 7: 43,645,335 (GRCm39) F3I probably damaging Het
Mid1 T C X: 168,710,421 (GRCm39) V139A possibly damaging Het
Mycbp2 T C 14: 103,393,094 (GRCm39) K3046E probably damaging Het
Nfasc T C 1: 132,562,409 (GRCm39) N122S probably damaging Het
Or11j4 A T 14: 50,630,369 (GRCm39) Y52F probably benign Het
Or4c124 T A 2: 89,155,597 (GRCm39) D309V possibly damaging Het
Or52ac1 T A 7: 104,245,846 (GRCm39) M181L probably damaging Het
Or52i2 T C 7: 102,319,256 (GRCm39) V43A probably benign Het
Or8d1b T C 9: 38,887,382 (GRCm39) S137P probably benign Het
Or8h9 C T 2: 86,789,043 (GRCm39) G253D probably damaging Het
Pdxdc1 T C 16: 13,654,990 (GRCm39) Y675C possibly damaging Het
Plcl1 A G 1: 55,736,045 (GRCm39) N462S probably benign Het
Ptf1a G T 2: 19,451,092 (GRCm39) A141S possibly damaging Het
Pzp A G 6: 128,468,203 (GRCm39) L1028P probably damaging Het
Qrsl1 A G 10: 43,758,158 (GRCm39) S312P probably damaging Het
Sars2 A G 7: 28,449,518 (GRCm39) T349A probably benign Het
Scarb1 A T 5: 125,377,409 (GRCm39) F208I probably damaging Het
Scn8a A G 15: 100,854,972 (GRCm39) N153S possibly damaging Het
Sema4c A T 1: 36,592,837 (GRCm39) V127D probably benign Het
Smg6 C G 11: 74,880,967 (GRCm39) S931C probably benign Het
Trpm2 A T 10: 77,759,427 (GRCm39) L1119Q probably damaging Het
Ubtd2 T A 11: 32,449,406 (GRCm39) N84K probably damaging Het
Ugt2b35 A T 5: 87,151,237 (GRCm39) H281L probably damaging Het
Umodl1 T C 17: 31,213,789 (GRCm39) probably null Het
Other mutations in P2ry10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:P2ry10b APN X 106,215,243 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGATGCTGATTCAGGACCTCATC -3'
(R):5'- TTCAGATAGAAACACAGCAGGC -3'

Sequencing Primer
(F):5'- GATTCAGGACCTCATCTTTGCAAC -3'
(R):5'- CAAAGGGCCCTCTGGAATG -3'
Posted On 2015-07-21