Incidental Mutation 'R5848:P3r3urf'
ID 453709
Institutional Source Beutler Lab
Gene Symbol P3r3urf
Ensembl Gene ENSMUSG00000078593
Gene Name Pik3r3 upstream reading frame
Synonyms 1700042G07Rik
MMRRC Submission 043225-MU
Accession Numbers
Essential gene? Not available question?
Stock # R5848 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116030569-116031487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116030812 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 72 (I72T)
Ref Sequence ENSEMBL: ENSMUSP00000102101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106492] [ENSMUST00000216692]
AlphaFold B1AUF7
Predicted Effect probably damaging
Transcript: ENSMUST00000106492
AA Change: I72T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102101
Gene: ENSMUSG00000078593
AA Change: I72T

DomainStartEndE-ValueType
low complexity region 18 30 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150216
Predicted Effect probably benign
Transcript: ENSMUST00000216692
AA Change: I72T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Aadacl4 T A 4: 144,344,428 (GRCm39) M68K probably benign Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Cdcp1 T A 9: 123,012,770 (GRCm39) H259L possibly damaging Het
Ckap4 T C 10: 84,369,354 (GRCm39) Q126R probably benign Het
Clec18a C T 8: 111,802,093 (GRCm39) V299I probably benign Het
D7Ertd443e A G 7: 133,951,451 (GRCm39) I27T possibly damaging Het
Dlg2 T G 7: 92,093,735 (GRCm39) D726E probably benign Het
Dnah8 T C 17: 30,947,165 (GRCm39) I1856T possibly damaging Het
Espl1 G A 15: 102,231,011 (GRCm39) V1837I probably benign Het
Fanca G T 8: 124,021,792 (GRCm39) probably benign Het
Fer1l5 A G 1: 36,428,016 (GRCm39) T437A probably benign Het
Gm10644 C A 8: 84,660,668 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,340 (GRCm39) S635G probably benign Het
Map3k12 A G 15: 102,412,670 (GRCm39) V234A possibly damaging Het
Mks1 A G 11: 87,747,696 (GRCm39) N193S probably benign Het
Mmp11 T C 10: 75,763,223 (GRCm39) E151G probably damaging Het
Napg A G 18: 63,127,440 (GRCm39) R265G possibly damaging Het
Odad2 T A 18: 7,268,507 (GRCm39) probably null Het
Or5e1 T A 7: 108,354,781 (GRCm39) C239* probably null Het
Or6e1 A G 14: 54,520,022 (GRCm39) F110S possibly damaging Het
Pcdha7 G T 18: 37,108,136 (GRCm39) C387F probably damaging Het
Pcdhb3 G T 18: 37,434,700 (GRCm39) R222L probably benign Het
Phf2 A G 13: 48,973,546 (GRCm39) M373T unknown Het
Plekha7 T C 7: 115,739,634 (GRCm39) T636A probably damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rnf6 G A 5: 146,147,959 (GRCm39) P353L probably benign Het
Sel1l3 A C 5: 53,342,150 (GRCm39) L357V possibly damaging Het
Sh3rf3 T A 10: 58,819,975 (GRCm39) M262K possibly damaging Het
Sorcs3 A T 19: 48,776,950 (GRCm39) H994L probably damaging Het
Thsd7a A T 6: 12,503,922 (GRCm39) C411S probably damaging Het
Ttn T C 2: 76,593,682 (GRCm39) K20653E probably damaging Het
Ttn A C 2: 76,708,908 (GRCm39) probably null Het
Ttn A G 2: 76,611,264 (GRCm39) W15677R probably damaging Het
Ubr2 T C 17: 47,267,581 (GRCm39) M1049V possibly damaging Het
Other mutations in P3r3urf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1965:P3r3urf UTSW 4 116,031,376 (GRCm39) missense probably damaging 0.97
R2517:P3r3urf UTSW 4 116,030,791 (GRCm39) missense probably benign 0.01
R3838:P3r3urf UTSW 4 116,030,718 (GRCm39) missense probably benign 0.04
R7125:P3r3urf UTSW 4 116,030,667 (GRCm39) missense probably benign 0.00
R7443:P3r3urf UTSW 4 116,030,664 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- GCTTGACTTCTCCCTACCGAAG -3'
(R):5'- CATTTGTGAAAACCCCACTGGC -3'

Sequencing Primer
(F):5'- CCGAAGGCCAGGGATGG -3'
(R):5'- AACCCCACTGGCCCCTTG -3'
Posted On 2017-02-10