Incidental Mutation 'R7125:P3r3urf'
ID 552258
Institutional Source Beutler Lab
Gene Symbol P3r3urf
Ensembl Gene ENSMUSG00000078593
Gene Name Pik3r3 upstream reading frame
Synonyms 1700042G07Rik
MMRRC Submission 045327-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7125 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 116030569-116031487 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116030667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 24 (M24V)
Ref Sequence ENSEMBL: ENSMUSP00000102101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106492] [ENSMUST00000216692]
AlphaFold B1AUF7
Predicted Effect probably benign
Transcript: ENSMUST00000106492
AA Change: M24V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102101
Gene: ENSMUSG00000078593
AA Change: M24V

DomainStartEndE-ValueType
low complexity region 18 30 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000216692
AA Change: M24V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,255,751 (GRCm39) C296S probably damaging Het
Ago3 T C 4: 126,264,145 (GRCm39) I354V probably null Het
Aldh1l1 G A 6: 90,553,761 (GRCm39) probably null Het
Ankrd49 TAA TA 9: 14,693,836 (GRCm39) probably null Het
B3gnt7 A G 1: 86,233,099 (GRCm39) Y115C probably damaging Het
Cacna1h A T 17: 25,602,510 (GRCm39) M1506K probably damaging Het
Cars1 T C 7: 143,138,510 (GRCm39) T226A probably benign Het
Ccdc28b T A 4: 129,514,885 (GRCm39) T75S probably benign Het
Cdc42bpg A G 19: 6,372,321 (GRCm39) I1436V probably damaging Het
Cep152 A T 2: 125,408,593 (GRCm39) Y1320* probably null Het
Cntnap2 A T 6: 46,965,580 (GRCm39) Y797F probably benign Het
Coq8a T A 1: 179,996,366 (GRCm39) N490I probably damaging Het
Csmd2 T C 4: 128,389,955 (GRCm39) L2230P Het
Cyp4a14 A T 4: 115,348,358 (GRCm39) I373N probably damaging Het
Ddx1 A G 12: 13,293,864 (GRCm39) S86P probably benign Het
Dennd3 A T 15: 73,405,140 (GRCm39) I298F possibly damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah2 T C 11: 69,327,008 (GRCm39) T3533A probably damaging Het
Fam53b T C 7: 132,373,357 (GRCm39) H27R probably damaging Het
Firrm T C 1: 163,789,631 (GRCm39) T635A probably benign Het
Fyb1 G A 15: 6,674,337 (GRCm39) E658K possibly damaging Het
Gapvd1 T C 2: 34,585,612 (GRCm39) S996G probably benign Het
Gm47959 G A 1: 82,978,503 (GRCm39) G57S unknown Het
Golgb1 T A 16: 36,738,325 (GRCm39) H2262Q possibly damaging Het
Gpam T C 19: 55,064,767 (GRCm39) T646A probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hexd C T 11: 121,095,496 (GRCm39) probably benign Het
Micu2 A T 14: 58,209,238 (GRCm39) Y73* probably null Het
N4bp2l2 T C 5: 150,573,894 (GRCm39) probably null Het
Or11h7 T C 14: 50,891,041 (GRCm39) C116R possibly damaging Het
Or1e31 T C 11: 73,689,990 (GRCm39) M198V probably benign Het
Or1m1 A T 9: 18,666,174 (GRCm39) Y252* probably null Het
Or51t4 T C 7: 102,598,386 (GRCm39) V238A probably damaging Het
Or5b112 A T 19: 13,319,103 (GRCm39) probably null Het
Prkca A G 11: 107,874,848 (GRCm39) Y365H probably damaging Het
Ptpre C T 7: 135,255,744 (GRCm39) R155* probably null Het
Ryr2 T A 13: 11,684,873 (GRCm39) N3023Y probably damaging Het
S100a7a A G 3: 90,562,822 (GRCm39) D3G probably benign Het
Scn2a T C 2: 65,594,277 (GRCm39) F1709L probably damaging Het
Slc15a2 T C 16: 36,602,660 (GRCm39) E67G probably damaging Het
Slc25a22 A G 7: 141,011,655 (GRCm39) L195P probably damaging Het
Sp140 TTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT 1: 85,572,290 (GRCm39) probably benign Het
Stim1 T A 7: 102,084,741 (GRCm39) H564Q possibly damaging Het
Sulf2 C T 2: 165,917,448 (GRCm39) W855* probably null Het
Tenm3 T C 8: 49,127,588 (GRCm39) N30S probably benign Het
Trim59 T C 3: 68,944,197 (GRCm39) D381G probably benign Het
Ttc21b T C 2: 66,066,670 (GRCm39) T328A probably benign Het
Ttc6 C G 12: 57,623,125 (GRCm39) Q175E probably benign Het
Vmn2r44 T C 7: 8,370,941 (GRCm39) I702V probably damaging Het
Zfp768 A T 7: 126,943,959 (GRCm39) F59L probably 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
R5848:P3r3urf UTSW 4 116,030,812 (GRCm39) missense probably damaging 0.98
R7443:P3r3urf UTSW 4 116,030,664 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TCTTGGGCTAGGCTTCTTGAAC -3'
(R):5'- TACTTCCCCACTAACCTCGAGG -3'

Sequencing Primer
(F):5'- ACTGATTGTGAGGAAGTCTGAGC -3'
(R):5'- CTCGAGGTGACAGAATCAATACACTG -3'
Posted On 2019-05-15