Incidental Mutation 'IGL03165:Pa2g4'
ID 411612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pa2g4
Ensembl Gene ENSMUSG00000025364
Gene Name proliferation-associated 2G4
Synonyms Plfap, Ebp1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.733) question?
Stock # IGL03165
Quality Score
Status
Chromosome 10
Chromosomal Location 128393635-128401803 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 128394929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026425] [ENSMUST00000131728]
AlphaFold P50580
Predicted Effect probably null
Transcript: ENSMUST00000026425
SMART Domains Protein: ENSMUSP00000026425
Gene: ENSMUSG00000025364

DomainStartEndE-ValueType
Pfam:Peptidase_M24 19 293 2.1e-27 PFAM
low complexity region 359 377 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000131728
SMART Domains Protein: ENSMUSP00000114434
Gene: ENSMUSG00000025364

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,475 (GRCm39) I334V probably benign Het
Axdnd1 T A 1: 156,205,959 (GRCm39) Y519F probably benign Het
C4b A G 17: 34,958,929 (GRCm39) F500S probably benign Het
Cacng2 A T 15: 77,879,863 (GRCm39) I153N possibly damaging Het
Ces1d T A 8: 93,916,147 (GRCm39) H160L probably benign Het
Cnnm3 T G 1: 36,564,313 (GRCm39) probably benign Het
Ctnna3 A G 10: 64,781,720 (GRCm39) T728A probably damaging Het
Cyp2g1 G A 7: 26,509,201 (GRCm39) V92M possibly damaging Het
Dock2 C A 11: 34,578,360 (GRCm39) V35F probably damaging Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Erp44 C T 4: 48,236,872 (GRCm39) probably null Het
Flg2 C T 3: 93,121,918 (GRCm39) H1363Y unknown Het
Flnc G T 6: 29,449,377 (GRCm39) G1425W probably damaging Het
Frem3 A G 8: 81,339,158 (GRCm39) N484D probably benign Het
Fstl3 A G 10: 79,615,799 (GRCm39) D95G probably benign Het
Gldc A G 19: 30,076,393 (GRCm39) S1018P possibly damaging Het
Gstk1 T G 6: 42,226,368 (GRCm39) I159S probably benign Het
Herc2 A G 7: 55,841,660 (GRCm39) E3513G probably damaging Het
Hpca A T 4: 129,012,383 (GRCm39) I51N probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Igkv4-74 T C 6: 69,162,289 (GRCm39) probably benign Het
Kdm7a C A 6: 39,147,848 (GRCm39) probably benign Het
Or1e23 A T 11: 73,407,710 (GRCm39) L105* probably null Het
Or52z14 T C 7: 103,253,218 (GRCm39) I119T probably damaging Het
Or5al6 A C 2: 85,976,412 (GRCm39) L222R possibly damaging Het
Pdlim3 T A 8: 46,372,035 (GRCm39) L360Q possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polk T A 13: 96,653,196 (GRCm39) Q68L probably benign Het
Ppfia2 T G 10: 106,603,348 (GRCm39) L195R probably damaging Het
Ranbp1 A T 16: 18,065,145 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,845 (GRCm39) R606G possibly damaging Het
Ryr1 A G 7: 28,804,465 (GRCm39) V488A probably benign Het
Sall2 A T 14: 52,551,625 (GRCm39) D521E probably damaging Het
Sntg1 A T 1: 8,515,328 (GRCm39) C402S probably damaging Het
Spg7 T C 8: 123,807,551 (GRCm39) probably null Het
Stk31 G A 6: 49,422,198 (GRCm39) E750K probably damaging Het
Tlr2 A G 3: 83,745,255 (GRCm39) I276T probably benign Het
Trav12-2 A T 14: 53,854,206 (GRCm39) H60L probably benign Het
Urb1 A G 16: 90,577,192 (GRCm39) L775S probably damaging Het
Utp14b A G 1: 78,642,237 (GRCm39) D45G probably damaging Het
Other mutations in Pa2g4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5680:Pa2g4 UTSW 10 128,395,326 (GRCm39) missense probably benign 0.37
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
Posted On 2016-08-02