Incidental Mutation 'IGL03165:Pa2g4'
ID411612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pa2g4
Ensembl Gene ENSMUSG00000025364
Gene Nameproliferation-associated 2G4
SynonymsPlfap, Ebp1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.718) question?
Stock #IGL03165
Quality Score
Status
Chromosome10
Chromosomal Location128557766-128565987 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 128559060 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026425] [ENSMUST00000131728]
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: 25,094,394 I334V probably benign Het
Axdnd1 T A 1: 156,378,389 Y519F probably benign Het
C4b A G 17: 34,739,955 F500S probably benign Het
Cacng2 A T 15: 77,995,663 I153N possibly damaging Het
Ces1d T A 8: 93,189,519 H160L probably benign Het
Cnnm3 T G 1: 36,525,232 probably benign Het
Ctnna3 A G 10: 64,945,941 T728A probably damaging Het
Cyp2g1 G A 7: 26,809,776 V92M possibly damaging Het
Dock2 C A 11: 34,687,533 V35F probably damaging Het
Eif2a C A 3: 58,548,628 Y349* probably null Het
Erp44 C T 4: 48,236,872 probably null Het
Flg2 C T 3: 93,214,611 H1363Y unknown Het
Flnc G T 6: 29,449,378 G1425W probably damaging Het
Frem3 A G 8: 80,612,529 N484D probably benign Het
Fstl3 A G 10: 79,779,965 D95G probably benign Het
Gldc A G 19: 30,098,993 S1018P possibly damaging Het
Gstk1 T G 6: 42,249,434 I159S probably benign Het
Herc2 A G 7: 56,191,912 E3513G probably damaging Het
Hpca A T 4: 129,118,590 I51N probably damaging Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Igkv4-74 T C 6: 69,185,305 probably benign Het
Kdm7a C A 6: 39,170,914 probably benign Het
Olfr1040 A C 2: 86,146,068 L222R possibly damaging Het
Olfr382 A T 11: 73,516,884 L105* probably null Het
Olfr619 T C 7: 103,604,011 I119T probably damaging Het
Pdlim3 T A 8: 45,918,998 L360Q possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polk T A 13: 96,516,688 Q68L probably benign Het
Ppfia2 T G 10: 106,767,487 L195R probably damaging Het
Ranbp1 A T 16: 18,247,281 probably benign Het
Rbm12b1 A G 4: 12,145,845 R606G possibly damaging Het
Ryr1 A G 7: 29,105,040 V488A probably benign Het
Sall2 A T 14: 52,314,168 D521E probably damaging Het
Sntg1 A T 1: 8,445,104 C402S probably damaging Het
Spg7 T C 8: 123,080,812 probably null Het
Stk31 G A 6: 49,445,264 E750K probably damaging Het
Tlr2 A G 3: 83,837,948 I276T probably benign Het
Trav12-2 A T 14: 53,616,749 H60L probably benign Het
Urb1 A G 16: 90,780,304 L775S probably damaging Het
Utp14b A G 1: 78,664,520 D45G probably damaging Het
Other mutations in Pa2g4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03198:Pa2g4 APN 10 128565778 missense probably damaging 1.00
IGL03297:Pa2g4 APN 10 128563236 missense probably damaging 1.00
R0238:Pa2g4 UTSW 10 128563642 missense probably benign
R0238:Pa2g4 UTSW 10 128563642 missense probably benign
R1326:Pa2g4 UTSW 10 128559273 missense probably benign 0.06
R3620:Pa2g4 UTSW 10 128563595 missense probably damaging 1.00
R4820:Pa2g4 UTSW 10 128559330 missense probably damaging 1.00
R5680:Pa2g4 UTSW 10 128559457 missense probably benign 0.37
R7069:Pa2g4 UTSW 10 128560690 missense probably benign 0.06
Posted On2016-08-02