Incidental Mutation 'IGL03046:Pcna'
ID 391841
Institutional Source Beutler Lab
Gene Symbol Pcna
Ensembl Gene ENSMUSG00000027342
Gene Name proliferating cell nuclear antigen
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03046 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 132091206-132095100 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132093673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 109 (E109K)
Ref Sequence ENSEMBL: ENSMUSP00000028817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028816] [ENSMUST00000028817] [ENSMUST00000110163] [ENSMUST00000110164] [ENSMUST00000180286]
AlphaFold P17918
Predicted Effect probably benign
Transcript: ENSMUST00000028816
SMART Domains Protein: ENSMUSP00000028816
Gene: ENSMUSG00000027341

DomainStartEndE-ValueType
Pfam:DUF872 14 118 5.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028817
AA Change: E109K

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028817
Gene: ENSMUSG00000027342
AA Change: E109K

DomainStartEndE-ValueType
Pfam:PCNA_N 1 125 1.4e-61 PFAM
Pfam:Rad1 1 236 2e-10 PFAM
Pfam:Rad9 12 245 1.3e-9 PFAM
Pfam:PCNA_C 127 254 8.2e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110163
SMART Domains Protein: ENSMUSP00000105792
Gene: ENSMUSG00000027341

DomainStartEndE-ValueType
Pfam:DUF872 14 118 5.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110164
SMART Domains Protein: ENSMUSP00000105793
Gene: ENSMUSG00000027341

DomainStartEndE-ValueType
Pfam:DUF872 14 118 5.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149627
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141813
Predicted Effect probably benign
Transcript: ENSMUST00000180286
SMART Domains Protein: ENSMUSP00000136826
Gene: ENSMUSG00000027341

DomainStartEndE-ValueType
Pfam:DUF872 3 118 1.7e-22 PFAM
Meta Mutation Damage Score 0.2269 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation due to defects in DNA replication. Mice homozygous for a knock-in allele show partial embryonic lethality during organogenesis, absent germ cells, infertility, and altered somatic hypermutation frequency. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(1) Targeted, other(4) Gene trapped(2)
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,636,282 (GRCm39) M717K probably benign Het
Acad12 C A 5: 121,748,029 (GRCm39) V130L probably benign Het
Cdca2 T C 14: 67,937,471 (GRCm39) probably benign Het
Cfap100 T A 6: 90,389,332 (GRCm39) probably null Het
Cfap43 T A 19: 47,804,302 (GRCm39) E298V probably damaging Het
Cic C T 7: 24,990,500 (GRCm39) P1971S probably damaging Het
Cnga1 T C 5: 72,761,681 (GRCm39) D611G probably benign Het
Daglb C T 5: 143,486,948 (GRCm39) P522L probably damaging Het
Dclre1b A T 3: 103,710,597 (GRCm39) I438K probably benign Het
Ddx5 C A 11: 106,675,871 (GRCm39) R273M probably damaging Het
Eepd1 C T 9: 25,393,981 (GRCm39) L82F probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Exoc6 T C 19: 37,582,217 (GRCm39) probably null Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Foxs1 T C 2: 152,774,484 (GRCm39) T190A probably benign Het
Gje1 A G 10: 14,592,374 (GRCm39) L136P probably damaging Het
Hdac11 A G 6: 91,145,827 (GRCm39) T176A probably benign Het
Hhip C A 8: 80,698,967 (GRCm39) V700L probably damaging Het
Hps5 T C 7: 46,426,463 (GRCm39) probably benign Het
Itgb1bp1 T C 12: 21,329,436 (GRCm39) S13G unknown Het
Kcna1 A T 6: 126,619,148 (GRCm39) L391M possibly damaging Het
Kif1a C T 1: 93,010,128 (GRCm39) V6M probably damaging Het
Klhl6 T C 16: 19,801,639 (GRCm39) I39V probably benign Het
Lpcat4 C A 2: 112,072,334 (GRCm39) silent Het
Ltn1 A T 16: 87,202,509 (GRCm39) S1047R probably benign Het
Mdn1 A G 4: 32,694,495 (GRCm39) T1073A possibly damaging Het
Megf10 G T 18: 57,421,055 (GRCm39) A898S possibly damaging Het
Mtmr6 T C 14: 60,529,577 (GRCm39) probably null Het
Mtnr1b T C 9: 15,774,059 (GRCm39) I333M probably benign Het
Muc5ac G T 7: 141,348,950 (GRCm39) C463F probably benign Het
Mycbpap G T 11: 94,396,543 (GRCm39) T99N possibly damaging Het
Myo7a C T 7: 97,728,534 (GRCm39) C824Y probably damaging Het
N4bp2 A G 5: 65,948,303 (GRCm39) H311R probably damaging Het
Nepro T A 16: 44,552,509 (GRCm39) probably benign Het
Nop56 A T 2: 130,117,489 (GRCm39) probably benign Het
Nup210 A G 6: 90,995,978 (GRCm39) probably benign Het
Or4d10c A G 19: 12,065,391 (GRCm39) V255A probably damaging Het
Or7g25 T A 9: 19,160,441 (GRCm39) I85F probably damaging Het
Pgap6 A T 17: 26,338,414 (GRCm39) probably null Het
Pkhd1 T G 1: 20,607,589 (GRCm39) D1089A possibly damaging Het
Plb1 A G 5: 32,485,756 (GRCm39) R847G probably damaging Het
Pou6f2 A G 13: 18,303,612 (GRCm39) probably benign Het
Prss43 C G 9: 110,660,049 (GRCm39) S371C probably benign Het
Ralgapa1 A T 12: 55,741,942 (GRCm39) V1322D probably damaging Het
Rrp8 A G 7: 105,384,109 (GRCm39) V131A probably benign Het
Rtp1 A T 16: 23,248,044 (GRCm39) K39M probably benign Het
Sanbr A T 11: 23,565,150 (GRCm39) L279Q possibly damaging Het
Slc1a6 A G 10: 78,636,008 (GRCm39) I358V probably benign Het
Slc25a15 T C 8: 22,885,726 (GRCm39) probably benign Het
Slc43a1 G A 2: 84,684,897 (GRCm39) probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Spock3 T G 8: 63,802,018 (GRCm39) probably null Het
Tbc1d7 T C 13: 43,308,162 (GRCm39) probably null Het
Tmem184c C T 8: 78,326,286 (GRCm39) W260* probably null Het
Trnau1ap A G 4: 132,039,252 (GRCm39) Y265H probably damaging Het
Usp25 T C 16: 76,871,754 (GRCm39) F363S probably damaging Het
Vcl T C 14: 21,072,085 (GRCm39) F817L possibly damaging Het
Vmn1r13 T A 6: 57,187,717 (GRCm39) M292K probably benign Het
Xpc G T 6: 91,487,463 (GRCm39) A89E probably damaging Het
Other mutations in Pcna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Pcna APN 2 132,093,852 (GRCm39) missense probably benign 0.12
IGL00839:Pcna APN 2 132,093,340 (GRCm39) missense probably benign 0.00
IGL01463:Pcna APN 2 132,093,349 (GRCm39) missense probably damaging 1.00
IGL02437:Pcna APN 2 132,093,155 (GRCm39) unclassified probably benign
IGL03083:Pcna APN 2 132,093,673 (GRCm39) missense probably benign 0.10
IGL03084:Pcna APN 2 132,093,673 (GRCm39) missense probably benign 0.10
IGL03094:Pcna APN 2 132,093,673 (GRCm39) missense probably benign 0.10
IGL03124:Pcna APN 2 132,093,673 (GRCm39) missense probably benign 0.10
NA:Pcna UTSW 2 132,091,804 (GRCm39) missense probably benign 0.01
R0722:Pcna UTSW 2 132,093,155 (GRCm39) unclassified probably benign
R1928:Pcna UTSW 2 132,093,817 (GRCm39) unclassified probably benign
R3857:Pcna UTSW 2 132,091,541 (GRCm39) missense probably benign 0.00
R7211:Pcna UTSW 2 132,091,792 (GRCm39) missense probably damaging 1.00
R7296:Pcna UTSW 2 132,094,797 (GRCm39) missense probably benign 0.10
R7917:Pcna UTSW 2 132,094,929 (GRCm39) missense probably benign 0.03
R8318:Pcna UTSW 2 132,093,348 (GRCm39) missense probably damaging 0.98
R8411:Pcna UTSW 2 132,093,850 (GRCm39) missense probably benign
R8793:Pcna UTSW 2 132,093,193 (GRCm39) missense probably benign 0.06
R8965:Pcna UTSW 2 132,094,769 (GRCm39) missense possibly damaging 0.94
R9780:Pcna UTSW 2 132,094,794 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ACTCAGAATGCAAGACTTCTGG -3'
(R):5'- GCACTAGTATTCGAAGCACCAAG -3'

Sequencing Primer
(F):5'- CTCAATCAACTTTAGACTGCTGTGG -3'
(R):5'- TTCGAAGCACCAAGTAAGTTAAAC -3'
Posted On 2016-06-07