Incidental Mutation 'R5680:Pa2g4'
ID 442986
Institutional Source Beutler Lab
Gene Symbol Pa2g4
Ensembl Gene ENSMUSG00000025364
Gene Name proliferation-associated 2G4
Synonyms Plfap, Ebp1
MMRRC Submission 043177-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.733) question?
Stock # R5680 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128393635-128401803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 128395326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 306 (N306K)
Ref Sequence ENSEMBL: ENSMUSP00000114434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026425] [ENSMUST00000131728]
AlphaFold P50580
Predicted Effect probably benign
Transcript: ENSMUST00000026425
AA Change: N306K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026425
Gene: ENSMUSG00000025364
AA Change: N306K

DomainStartEndE-ValueType
Pfam:Peptidase_M24 19 293 2.1e-27 PFAM
low complexity region 359 377 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131728
AA Change: N306K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114434
Gene: ENSMUSG00000025364
AA Change: N306K

DomainStartEndE-ValueType
Pfam:Peptidase_M24 19 232 1.2e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197964
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased body size and weight during early adulthood and produce smaller than normal litters. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,384,010 (GRCm39) R652W probably damaging Het
Abca6 A G 11: 110,127,471 (GRCm39) F362S possibly damaging Het
Adcy1 G A 11: 7,059,020 (GRCm39) V309M probably damaging Het
Agap2 A G 10: 126,923,880 (GRCm39) K752E unknown Het
Ahdc1 T A 4: 132,792,907 (GRCm39) F1383I probably benign Het
Ano5 G A 7: 51,233,562 (GRCm39) R658H possibly damaging Het
Atn1 A T 6: 124,724,778 (GRCm39) S152T possibly damaging Het
Bcl11a G A 11: 24,114,264 (GRCm39) V536M possibly damaging Het
Cdc20 T C 4: 118,290,264 (GRCm39) T466A probably damaging Het
Cecr2 C G 6: 120,738,387 (GRCm39) T1010R probably benign Het
Cfap54 A T 10: 92,814,879 (GRCm39) L1318* probably null Het
Colec11 A G 12: 28,644,730 (GRCm39) S249P probably damaging Het
Dnah6 A G 6: 73,126,508 (GRCm39) V1273A probably damaging Het
G3bp2 T C 5: 92,216,219 (GRCm39) R106G probably damaging Het
Ggt7 A T 2: 155,348,353 (GRCm39) C100S probably damaging Het
Grik4 A T 9: 42,540,415 (GRCm39) M255K probably benign Het
Kcnj11 A T 7: 45,748,232 (GRCm39) S364T probably benign Het
Lnpep A T 17: 17,799,444 (GRCm39) Y70* probably null Het
Mark1 T C 1: 184,677,013 (GRCm39) H79R probably damaging Het
Mdfic2 T A 6: 98,225,187 (GRCm39) Q32L probably damaging Het
Myo9b T G 8: 71,743,016 (GRCm39) S26A probably benign Het
Pik3c3 T A 18: 30,410,166 (GRCm39) Y133* probably null Het
Prpf6 G T 2: 181,290,933 (GRCm39) A675S probably damaging Het
Psca A G 15: 74,587,948 (GRCm39) D44G probably benign Het
Sag T A 1: 87,749,059 (GRCm39) F153I possibly damaging Het
Scn10a A G 9: 119,453,202 (GRCm39) L1231P probably damaging Het
Sirpa T C 2: 129,458,172 (GRCm39) S157P probably benign Het
Slc27a2 A T 2: 126,403,530 (GRCm39) R184S probably benign Het
Tagln2 T C 1: 172,333,479 (GRCm39) F111S probably damaging Het
Tasor CGCGGCGGCGGCGGCGG CGCGGCGGCGGCGGCGGCGGCGG 14: 27,151,080 (GRCm39) probably benign Het
Tbc1d1 A G 5: 64,481,887 (GRCm39) D696G possibly damaging Het
Tert T A 13: 73,790,470 (GRCm39) probably null Het
Togaram2 G A 17: 71,996,204 (GRCm39) R68K probably benign Het
Trim40 A T 17: 37,199,874 (GRCm39) I68N probably damaging Het
Trpa1 T C 1: 14,946,078 (GRCm39) M1018V probably benign Het
Unc13c A T 9: 73,839,884 (GRCm39) N322K probably damaging Het
Vmn2r75 T A 7: 85,820,779 (GRCm39) T52S probably benign Het
Vmn2r90 T G 17: 17,947,034 (GRCm39) V437G possibly damaging Het
Vps16 C A 2: 130,282,244 (GRCm39) H389N possibly damaging Het
Other mutations in Pa2g4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03165:Pa2g4 APN 10 128,394,929 (GRCm39) critical splice donor site probably null
IGL03198:Pa2g4 APN 10 128,401,647 (GRCm39) missense probably damaging 1.00
IGL03297:Pa2g4 APN 10 128,399,105 (GRCm39) missense probably damaging 1.00
R0238:Pa2g4 UTSW 10 128,399,511 (GRCm39) missense probably benign
R0238:Pa2g4 UTSW 10 128,399,511 (GRCm39) missense probably benign
R1326:Pa2g4 UTSW 10 128,395,142 (GRCm39) missense probably benign 0.06
R3620:Pa2g4 UTSW 10 128,399,464 (GRCm39) missense probably damaging 1.00
R4820:Pa2g4 UTSW 10 128,395,199 (GRCm39) missense probably damaging 1.00
R7069:Pa2g4 UTSW 10 128,396,559 (GRCm39) missense probably benign 0.06
R9474:Pa2g4 UTSW 10 128,398,967 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- TCTCAGACTTGTACAGGTCAGG -3'
(R):5'- GAACCAGCTTCACACGGTTG -3'

Sequencing Primer
(F):5'- GCTCAAAGGGACCACTGGTTATC -3'
(R):5'- TCACACGGTTGCCCCCTG -3'
Posted On 2016-11-09