Incidental Mutation 'R4211:Pcgf5'
ID 319223
Institutional Source Beutler Lab
Gene Symbol Pcgf5
Ensembl Gene ENSMUSG00000024805
Gene Name polycomb group ring finger 5
Synonyms 0610009F02Rik, 9530023M17Rik, 5830406C17Rik, 5830443C21Rik, 1110054A01Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.572) question?
Stock # R4211 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 36325729-36438370 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36414740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 26 (N26K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062389] [ENSMUST00000071267] [ENSMUST00000224679] [ENSMUST00000224772] [ENSMUST00000224971] [ENSMUST00000225411] [ENSMUST00000225920]
AlphaFold Q3UK78
Predicted Effect probably benign
Transcript: ENSMUST00000062389
AA Change: N101K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000058730
Gene: ENSMUSG00000024805
AA Change: N101K

DomainStartEndE-ValueType
RING 18 56 4.05e-5 SMART
low complexity region 86 96 N/A INTRINSIC
Pfam:RAWUL 146 230 2.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071267
AA Change: N101K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000071245
Gene: ENSMUSG00000024805
AA Change: N101K

DomainStartEndE-ValueType
RING 18 56 4.05e-5 SMART
low complexity region 86 96 N/A INTRINSIC
Pfam:RAWUL 146 230 2.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224679
AA Change: N101K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000224772
AA Change: N100K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224859
AA Change: N26K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000224971
AA Change: N101K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000225411
AA Change: N101K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000225920
AA Change: N101K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225050
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Bone marrow cells from mice homozygous for a conditional allele exhibit normal hematopoietic and progenitor cell function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,283,209 (GRCm39) I166V probably benign Het
Albfm1 T G 5: 90,712,096 (GRCm39) V63G probably damaging Het
Anapc5 T C 5: 122,955,968 (GRCm39) E154G probably benign Het
Anpep A T 7: 79,490,744 (GRCm39) Y257* probably null Het
Atp8b1 A T 18: 64,686,118 (GRCm39) D688E probably damaging Het
Bub1b C A 2: 118,461,459 (GRCm39) H670Q possibly damaging Het
Casp3 G T 8: 47,088,423 (GRCm39) D107Y probably damaging Het
Castor2 T C 5: 134,154,783 (GRCm39) probably null Het
Clcc1 A T 3: 108,570,907 (GRCm39) Y105F possibly damaging Het
Cr2 A C 1: 194,838,636 (GRCm39) L671R probably damaging Het
Cttnbp2 A G 6: 18,427,542 (GRCm39) V713A probably damaging Het
Cyp4a31 T C 4: 115,422,210 (GRCm39) F65L probably benign Het
Dpysl2 T C 14: 67,052,926 (GRCm39) S308G probably damaging Het
Dusp22 A T 13: 30,892,726 (GRCm39) I168F probably benign Het
Ecel1 A G 1: 87,079,872 (GRCm39) S414P probably damaging Het
Fat2 A G 11: 55,174,810 (GRCm39) F1968L probably damaging Het
Fsip2 C T 2: 82,805,493 (GRCm39) T604I probably damaging Het
H2-DMb1 T A 17: 34,374,547 (GRCm39) F66I possibly damaging Het
Hgf T C 5: 16,819,991 (GRCm39) V574A probably damaging Het
Hoxa7 A T 6: 52,193,605 (GRCm39) Y137* probably null Het
Ikbke T A 1: 131,191,085 (GRCm39) I519F probably damaging Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Kmt2d A G 15: 98,738,070 (GRCm39) probably benign Het
Larp7 T A 3: 127,340,603 (GRCm39) R112S probably benign Het
Lepr C T 4: 101,590,611 (GRCm39) A63V probably benign Het
Lmx1a G T 1: 167,660,428 (GRCm39) V238L probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mcmbp T C 7: 128,317,729 (GRCm39) E172G possibly damaging Het
Mcpt8 G A 14: 56,321,375 (GRCm39) H30Y probably damaging Het
Nek8 C A 11: 78,061,309 (GRCm39) V379L probably benign Het
Numa1 T G 7: 101,658,945 (GRCm39) L356R probably damaging Het
Pard6b C T 2: 167,940,943 (GRCm39) A310V probably benign Het
Phtf1 G A 3: 103,910,919 (GRCm39) probably null Het
Plch1 C A 3: 63,618,640 (GRCm39) D675Y probably damaging Het
Plk2 A G 13: 110,532,871 (GRCm39) H144R probably damaging Het
Rax T A 18: 66,068,152 (GRCm39) N318Y unknown Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Smarcd2 T A 11: 106,157,731 (GRCm39) K138* probably null Het
Taar7e A T 10: 23,913,932 (GRCm39) I141F probably damaging Het
Taar7f T A 10: 23,925,921 (GRCm39) W172R probably damaging Het
Tango6 A G 8: 107,415,856 (GRCm39) I226V probably benign Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tdp1 C A 12: 99,864,588 (GRCm39) A243E probably damaging Het
Tfpt A G 7: 3,623,386 (GRCm39) Y240H probably damaging Het
Tmod4 A G 3: 95,035,140 (GRCm39) D215G probably benign Het
Top3b A G 16: 16,700,396 (GRCm39) probably null Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Zfand2b A T 1: 75,146,454 (GRCm39) M110L probably benign Het
Zfyve1 A T 12: 83,621,909 (GRCm39) V162E probably damaging Het
Other mutations in Pcgf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Pcgf5 APN 19 36,420,268 (GRCm39) missense probably damaging 1.00
IGL03184:Pcgf5 APN 19 36,412,076 (GRCm39) splice site probably benign
IGL03259:Pcgf5 APN 19 36,433,059 (GRCm39) missense probably benign 0.28
Baleen UTSW 19 36,420,311 (GRCm39) missense probably damaging 0.99
whalebone UTSW 19 36,420,339 (GRCm39) nonsense probably null
R0318:Pcgf5 UTSW 19 36,389,590 (GRCm39) missense possibly damaging 0.81
R0570:Pcgf5 UTSW 19 36,389,580 (GRCm39) missense probably benign 0.00
R0890:Pcgf5 UTSW 19 36,389,544 (GRCm39) missense probably benign 0.05
R2238:Pcgf5 UTSW 19 36,414,754 (GRCm39) missense probably damaging 0.97
R2239:Pcgf5 UTSW 19 36,414,754 (GRCm39) missense probably damaging 0.97
R3904:Pcgf5 UTSW 19 36,417,495 (GRCm39) missense probably damaging 1.00
R4050:Pcgf5 UTSW 19 36,420,311 (GRCm39) missense probably damaging 0.99
R4209:Pcgf5 UTSW 19 36,414,740 (GRCm39) missense possibly damaging 0.81
R4210:Pcgf5 UTSW 19 36,414,740 (GRCm39) missense possibly damaging 0.81
R5202:Pcgf5 UTSW 19 36,414,583 (GRCm39) missense probably damaging 1.00
R5997:Pcgf5 UTSW 19 36,412,003 (GRCm39) missense probably benign 0.35
R6039:Pcgf5 UTSW 19 36,420,306 (GRCm39) missense probably damaging 1.00
R6039:Pcgf5 UTSW 19 36,420,306 (GRCm39) missense probably damaging 1.00
R7060:Pcgf5 UTSW 19 36,420,339 (GRCm39) nonsense probably null
R8076:Pcgf5 UTSW 19 36,417,483 (GRCm39) missense probably damaging 1.00
R8773:Pcgf5 UTSW 19 36,389,348 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- GCTGGATAACACGTTGGAGG -3'
(R):5'- TTTCCTGTCTTGAAACTATGGCTAG -3'

Sequencing Primer
(F):5'- TGGATAACACGTTGGAGGAAATTATC -3'
(R):5'- AACTATGGCTAGTATTTCTATCCCG -3'
Posted On 2015-06-10