Incidental Mutation 'IGL03297:Pa2g4'
ID416113
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: 0.616) question?
Stock #IGL03297
Quality Score
Status
Chromosome10
Chromosomal Location128557766-128565987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 128563236 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 104 (D104G)
Ref Sequence ENSEMBL: ENSMUSP00000114434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026425] [ENSMUST00000082059] [ENSMUST00000131728]
Predicted Effect probably damaging
Transcript: ENSMUST00000026425
AA Change: D104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026425
Gene: ENSMUSG00000025364
AA Change: D104G

DomainStartEndE-ValueType
Pfam:Peptidase_M24 19 293 2.1e-27 PFAM
low complexity region 359 377 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000082059
SMART Domains Protein: ENSMUSP00000080716
Gene: ENSMUSG00000018166

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Recep_L_domain 55 167 2.4e-31 PFAM
FU 180 220 5.83e0 SMART
FU 223 265 7.63e-10 SMART
Pfam:Recep_L_domain 353 474 7.5e-33 PFAM
FU 490 541 7.82e-7 SMART
FU 546 595 1.34e-5 SMART
FU 607 643 9.24e0 SMART
TyrKc 707 963 7.42e-91 SMART
low complexity region 997 1018 N/A INTRINSIC
low complexity region 1113 1124 N/A INTRINSIC
low complexity region 1135 1148 N/A INTRINSIC
low complexity region 1172 1185 N/A INTRINSIC
low complexity region 1186 1196 N/A INTRINSIC
low complexity region 1201 1213 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000131728
AA Change: D104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114434
Gene: ENSMUSG00000025364
AA Change: D104G

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,423,426 G1624S probably damaging Het
Adhfe1 A G 1: 9,549,948 probably benign Het
Ano6 C A 15: 95,962,277 T760N probably damaging Het
Camsap2 T C 1: 136,297,801 M196V probably benign Het
Cd209d T C 8: 3,878,476 D3G possibly damaging Het
Cdh5 T A 8: 104,128,199 F253Y probably damaging Het
Cnot10 T C 9: 114,598,716 E610G possibly damaging Het
Cnot4 T C 6: 35,024,223 N579S probably benign Het
Csmd1 G T 8: 16,009,432 S2101* probably null Het
Dgkq C A 5: 108,650,274 R706L probably damaging Het
Gm5422 T C 10: 31,249,731 noncoding transcript Het
Gpr34 A G X: 13,639,442 Y70C probably damaging Het
Herc6 T A 6: 57,662,389 L914Q probably benign Het
Ifitm6 T C 7: 141,016,035 Y115C probably damaging Het
Iqcg G T 16: 33,035,632 probably benign Het
Myo15 A G 11: 60,479,141 D909G probably damaging Het
Nefl A G 14: 68,084,224 T88A possibly damaging Het
Nfatc2 T A 2: 168,536,218 N509I probably damaging Het
Nkd1 T C 8: 88,574,274 probably benign Het
Npas2 T C 1: 39,292,690 V62A possibly damaging Het
Oas2 T G 5: 120,735,085 D635A possibly damaging Het
Obscn C T 11: 59,060,886 V4014M possibly damaging Het
Ogfr C A 2: 180,594,407 H262N possibly damaging Het
Olfr433 T G 1: 174,042,117 S56A probably benign Het
Olfr913 A T 9: 38,594,525 L101F probably benign Het
Parp11 T C 6: 127,490,082 probably benign Het
Ppp2r5a C T 1: 191,354,762 V360I probably benign Het
Ptpn13 A T 5: 103,541,077 K912I probably benign Het
Sec16a A G 2: 26,439,190 S938P probably benign Het
Slc15a1 A C 14: 121,486,684 I170S probably damaging Het
Smchd1 T C 17: 71,349,700 N1924S probably benign Het
Sprr4 G A 3: 92,500,424 P24S unknown Het
Trim30b A T 7: 104,365,895 N95K probably benign Het
Tyw1 C T 5: 130,340,734 A687V probably damaging Het
Vmn2r14 T A 5: 109,216,107 I648F probably damaging Het
Vmn2r78 T A 7: 86,920,761 C162* probably null Het
Other mutations in Pa2g4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03165:Pa2g4 APN 10 128559060 critical splice donor site probably null
IGL03198:Pa2g4 APN 10 128565778 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