Incidental Mutation 'R1162:Phf2'
ID 100499
Institutional Source Beutler Lab
Gene Symbol Phf2
Ensembl Gene ENSMUSG00000038025
Gene Name PHD finger protein 2
Synonyms
MMRRC Submission 039235-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # R1162 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 48955226-49024361 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 48973117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000047308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035540]
AlphaFold Q9WTU0
Predicted Effect probably benign
Transcript: ENSMUST00000035540
SMART Domains Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025

DomainStartEndE-ValueType
PHD 7 54 1.08e-9 SMART
JmjC 197 353 1.98e-47 SMART
low complexity region 468 481 N/A INTRINSIC
low complexity region 487 532 N/A INTRINSIC
low complexity region 884 891 N/A INTRINSIC
coiled coil region 924 948 N/A INTRINSIC
low complexity region 953 1021 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.9%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial postnatal lethality, decreased body weight, decreased adipocity and impaired adipogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430015G10Rik T C 4: 156,206,875 (GRCm39) probably null Het
Adamts12 T A 15: 11,277,544 (GRCm39) probably null Het
Ccn3 T A 15: 54,611,178 (GRCm39) C104* probably null Het
Cops4 T C 5: 100,678,023 (GRCm39) probably benign Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Dgkh A G 14: 78,861,891 (GRCm39) C125R probably damaging Het
Dgkz A T 2: 91,774,789 (GRCm39) I65N probably damaging Het
Dock10 T A 1: 80,546,559 (GRCm39) H743L possibly damaging Het
Dscaml1 T C 9: 45,663,647 (GRCm39) probably benign Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gbe1 A T 16: 70,178,738 (GRCm39) probably benign Het
Gm7275 A G 16: 47,894,395 (GRCm39) noncoding transcript Het
Gpatch1 A G 7: 35,002,905 (GRCm39) probably benign Het
Gpr137c A G 14: 45,481,615 (GRCm39) I144V possibly damaging Het
Igsf9b T C 9: 27,238,185 (GRCm39) S563P probably benign Het
Insl5 C T 4: 102,875,438 (GRCm39) R104Q probably benign Het
Kcnj2 T A 11: 110,963,793 (GRCm39) V395D probably benign Het
Ksr2 A G 5: 117,693,020 (GRCm39) probably benign Het
Lrrc4 C A 6: 28,831,083 (GRCm39) L177F probably damaging Het
Mapkbp1 A G 2: 119,855,799 (GRCm39) E1506G possibly damaging Het
Morc3 A C 16: 93,649,996 (GRCm39) Y259S probably damaging Het
Mrpl43 T G 19: 44,994,797 (GRCm39) S13R possibly damaging Het
Myh4 A G 11: 67,149,439 (GRCm39) N1724D probably damaging Het
Nab1 A G 1: 52,529,186 (GRCm39) M237T probably damaging Het
Nav2 A G 7: 49,185,788 (GRCm39) probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or2h15 A T 17: 38,441,984 (GRCm39) V33D possibly damaging Het
Or5ac15 T C 16: 58,939,735 (GRCm39) R233G probably damaging Het
Or5p80 A G 7: 108,230,120 (GRCm39) N307S probably benign Het
Ppef2 A C 5: 92,400,980 (GRCm39) F13L probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Sap130 C T 18: 31,781,226 (GRCm39) P130S probably damaging Het
Scn11a A G 9: 119,634,710 (GRCm39) probably benign Het
Sec31b C A 19: 44,506,087 (GRCm39) E940* probably null Het
Sgce A G 6: 4,691,419 (GRCm39) probably benign Het
Sh3glb2 A T 2: 30,240,600 (GRCm39) I155N probably damaging Het
Sirt2 A T 7: 28,485,247 (GRCm39) D218V probably damaging Het
Slc16a10 T C 10: 39,952,549 (GRCm39) H315R probably benign Het
Sox5 A G 6: 143,906,538 (GRCm39) Y306H probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tab2 A G 10: 7,800,483 (GRCm39) V23A probably damaging Het
Trak1 G T 9: 121,282,407 (GRCm39) V429F possibly damaging Het
Trat1 T C 16: 48,560,572 (GRCm39) S102G possibly damaging Het
Trub1 G A 19: 57,461,191 (GRCm39) V156I probably benign Het
Tspan32 T A 7: 142,560,735 (GRCm39) M61K probably damaging Het
Unc13a T A 8: 72,100,561 (GRCm39) T1076S probably benign Het
Vangl2 A G 1: 171,832,414 (GRCm39) Y481H probably damaging Het
Vmn2r105 C T 17: 20,447,973 (GRCm39) E284K probably benign Het
Vmn2r60 A T 7: 41,845,195 (GRCm39) I853F probably benign Het
Yrdc T C 4: 124,748,254 (GRCm39) probably benign Het
Zfp595 A T 13: 67,465,259 (GRCm39) C335S probably damaging Het
Zfp872 A G 9: 22,110,910 (GRCm39) S149G possibly damaging Het
Other mutations in Phf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Phf2 APN 13 48,973,083 (GRCm39) missense unknown
IGL01554:Phf2 APN 13 48,959,355 (GRCm39) nonsense probably null
IGL02063:Phf2 APN 13 48,975,118 (GRCm39) missense unknown
IGL02456:Phf2 APN 13 48,982,322 (GRCm39) missense unknown
IGL02498:Phf2 APN 13 48,958,715 (GRCm39) missense unknown
IGL02586:Phf2 APN 13 48,967,334 (GRCm39) splice site probably benign
IGL02688:Phf2 APN 13 48,959,315 (GRCm39) missense unknown
H8441:Phf2 UTSW 13 48,957,841 (GRCm39) missense possibly damaging 0.67
R0265:Phf2 UTSW 13 48,982,270 (GRCm39) missense unknown
R0389:Phf2 UTSW 13 48,957,965 (GRCm39) missense unknown
R0535:Phf2 UTSW 13 48,967,423 (GRCm39) missense unknown
R1342:Phf2 UTSW 13 48,957,953 (GRCm39) missense unknown
R1551:Phf2 UTSW 13 48,985,579 (GRCm39) missense unknown
R1551:Phf2 UTSW 13 48,957,079 (GRCm39) missense probably damaging 1.00
R1567:Phf2 UTSW 13 48,985,589 (GRCm39) missense unknown
R1698:Phf2 UTSW 13 48,961,106 (GRCm39) missense unknown
R1766:Phf2 UTSW 13 48,973,033 (GRCm39) missense unknown
R1785:Phf2 UTSW 13 48,971,043 (GRCm39) missense unknown
R1997:Phf2 UTSW 13 48,982,384 (GRCm39) missense unknown
R2034:Phf2 UTSW 13 48,971,206 (GRCm39) missense unknown
R2096:Phf2 UTSW 13 48,985,589 (GRCm39) nonsense probably null
R2147:Phf2 UTSW 13 48,958,165 (GRCm39) missense unknown
R2149:Phf2 UTSW 13 48,958,165 (GRCm39) missense unknown
R2154:Phf2 UTSW 13 48,973,549 (GRCm39) missense unknown
R2296:Phf2 UTSW 13 48,988,754 (GRCm39) missense unknown
R4212:Phf2 UTSW 13 48,974,089 (GRCm39) missense unknown
R4749:Phf2 UTSW 13 48,975,185 (GRCm39) splice site probably null
R4770:Phf2 UTSW 13 48,957,079 (GRCm39) missense probably damaging 1.00
R4948:Phf2 UTSW 13 48,961,198 (GRCm39) missense unknown
R4989:Phf2 UTSW 13 48,961,320 (GRCm39) missense unknown
R5792:Phf2 UTSW 13 48,973,518 (GRCm39) splice site probably null
R5848:Phf2 UTSW 13 48,973,546 (GRCm39) missense unknown
R6092:Phf2 UTSW 13 48,969,533 (GRCm39) missense unknown
R6165:Phf2 UTSW 13 48,967,341 (GRCm39) critical splice donor site probably null
R6192:Phf2 UTSW 13 48,973,583 (GRCm39) missense unknown
R6237:Phf2 UTSW 13 48,957,131 (GRCm39) nonsense probably null
R6249:Phf2 UTSW 13 48,959,348 (GRCm39) missense unknown
R6489:Phf2 UTSW 13 48,979,658 (GRCm39) missense unknown
R7616:Phf2 UTSW 13 48,961,083 (GRCm39) missense unknown
R8058:Phf2 UTSW 13 48,976,558 (GRCm39) missense unknown
R8158:Phf2 UTSW 13 48,971,236 (GRCm39) missense probably benign 0.23
R8186:Phf2 UTSW 13 48,961,227 (GRCm39) missense unknown
R8218:Phf2 UTSW 13 48,958,104 (GRCm39) missense unknown
R8237:Phf2 UTSW 13 48,976,514 (GRCm39) missense unknown
R8431:Phf2 UTSW 13 48,975,078 (GRCm39) missense unknown
R8496:Phf2 UTSW 13 48,971,181 (GRCm39) missense unknown
R8774:Phf2 UTSW 13 48,971,878 (GRCm39) splice site probably benign
R8786:Phf2 UTSW 13 48,967,219 (GRCm39) missense unknown
R8792:Phf2 UTSW 13 48,970,981 (GRCm39) critical splice donor site probably benign
R9505:Phf2 UTSW 13 48,957,134 (GRCm39) missense probably damaging 1.00
R9632:Phf2 UTSW 13 48,971,292 (GRCm39) missense unknown
R9644:Phf2 UTSW 13 49,024,218 (GRCm39) nonsense probably null
R9704:Phf2 UTSW 13 48,959,374 (GRCm39) missense unknown
R9778:Phf2 UTSW 13 48,973,101 (GRCm39) missense unknown
V1024:Phf2 UTSW 13 48,957,841 (GRCm39) missense possibly damaging 0.67
X0027:Phf2 UTSW 13 48,985,594 (GRCm39) missense unknown
Z1176:Phf2 UTSW 13 48,961,183 (GRCm39) missense unknown
Z1177:Phf2 UTSW 13 48,958,069 (GRCm39) missense unknown
Predicted Primers
Posted On 2014-01-15