Incidental Mutation 'R2147:Phf2'
ID 233945
Institutional Source Beutler Lab
Gene Symbol Phf2
Ensembl Gene ENSMUSG00000038025
Gene Name PHD finger protein 2
Synonyms
MMRRC Submission 040150-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # R2147 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 48955226-49024361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48958165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 950 (K950E)
Ref Sequence ENSEMBL: ENSMUSP00000047308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035540]
AlphaFold Q9WTU0
Predicted Effect unknown
Transcript: ENSMUST00000035540
AA Change: K950E
SMART Domains Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: K950E

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T A 1: 159,903,003 (GRCm39) M91K probably benign Het
Abr T C 11: 76,346,474 (GRCm39) R437G probably damaging Het
Acaca T G 11: 84,167,362 (GRCm39) D1045E probably benign Het
Adam23 A T 1: 63,573,521 (GRCm39) probably null Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Alg11 G A 8: 22,555,309 (GRCm39) G108D probably damaging Het
Alox12e A T 11: 70,210,771 (GRCm39) I316N probably damaging Het
Arid1a A T 4: 133,408,677 (GRCm39) F1943L unknown Het
Armh4 T C 14: 49,989,028 (GRCm39) D647G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
BC035044 T C 6: 128,867,867 (GRCm39) probably benign Het
Bcor G A X: 11,923,862 (GRCm39) A578V possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccnf A T 17: 24,449,288 (GRCm39) probably null Het
Cdadc1 A G 14: 59,835,202 (GRCm39) probably null Het
Cep57l1 A G 10: 41,616,895 (GRCm39) Y131H probably damaging Het
Cfap251 T C 5: 123,394,254 (GRCm39) V381A probably benign Het
Cfap44 A G 16: 44,272,047 (GRCm39) R1267G probably benign Het
Chd3 A T 11: 69,239,854 (GRCm39) L1658Q probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Chpf2 T A 5: 24,797,033 (GRCm39) F660I probably damaging Het
Cmas T A 6: 142,717,015 (GRCm39) D302E probably benign Het
Cpne3 T A 4: 19,536,562 (GRCm39) M233L probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dennd3 T G 15: 73,395,336 (GRCm39) L143R probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Ergic1 A G 17: 26,855,024 (GRCm39) probably null Het
Fbxl15 A T 19: 46,317,627 (GRCm39) D103V probably damaging Het
Gm4781 C A 10: 100,232,414 (GRCm39) noncoding transcript Het
Hpca A G 4: 129,012,278 (GRCm39) I86T possibly damaging Het
Katnip T A 7: 125,464,492 (GRCm39) H1286Q probably damaging Het
Lamb3 T C 1: 193,010,212 (GRCm39) V275A probably benign Het
Lipe G T 7: 25,087,946 (GRCm39) A38E probably benign Het
Lrrk1 A T 7: 65,935,159 (GRCm39) probably null Het
Lrsam1 T C 2: 32,835,891 (GRCm39) K292R probably damaging Het
Mbtps1 A T 8: 120,265,598 (GRCm39) H316Q probably benign Het
Mms22l T A 4: 24,580,063 (GRCm39) Y525* probably null Het
Mrps14 T C 1: 160,022,862 (GRCm39) L9P possibly damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myo15a A G 11: 60,401,055 (GRCm39) D2992G possibly damaging Het
N4bp2 T A 5: 65,966,543 (GRCm39) L1327Q probably damaging Het
Nradd A T 9: 110,451,243 (GRCm39) F42I probably benign Het
Or5k8 T A 16: 58,644,842 (GRCm39) I77F probably damaging Het
Pank1 T C 19: 34,804,754 (GRCm39) H134R probably benign Het
Pcdh7 T A 5: 58,286,458 (GRCm39) M1178K possibly damaging Het
Pcnx3 A T 19: 5,717,633 (GRCm39) I1084N probably damaging Het
Pdcd11 A G 19: 47,093,191 (GRCm39) M490V probably benign Het
Pitpnc1 C T 11: 107,103,344 (GRCm39) A252T probably damaging Het
Prickle2 A G 6: 92,402,652 (GRCm39) L112P probably damaging Het
Prpf8 A G 11: 75,381,357 (GRCm39) I231V probably benign Het
Scin T A 12: 40,130,984 (GRCm39) M310L probably benign Het
Serpina3m T A 12: 104,355,483 (GRCm39) I50N probably benign Het
Skint8 C G 4: 111,794,274 (GRCm39) N221K probably damaging Het
Slc22a23 C T 13: 34,366,990 (GRCm39) V673M probably benign Het
Slc24a5 A G 2: 124,929,361 (GRCm39) D368G probably damaging Het
Slc28a1 A T 7: 80,776,015 (GRCm39) Q237L possibly damaging Het
Smchd1 T A 17: 71,705,583 (GRCm39) K1005N possibly damaging Het
Stim2 T C 5: 54,262,717 (GRCm39) Y320H probably damaging Het
Syne3 T A 12: 104,919,357 (GRCm39) D512V probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Tcp10a T C 17: 7,601,701 (GRCm39) S216P probably damaging Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Tmem236 A G 2: 14,223,861 (GRCm39) I217V probably benign Het
Tmem45b A G 9: 31,340,277 (GRCm39) V128A probably benign Het
Tnfaip2 T C 12: 111,412,456 (GRCm39) Y286H probably damaging Het
Tsc2 T A 17: 24,840,116 (GRCm39) I427L possibly damaging Het
Ttc17 T A 2: 94,132,139 (GRCm39) N1180I possibly damaging Het
Ubr1 T G 2: 120,694,811 (GRCm39) D1707A probably damaging Het
Vmn1r11 A G 6: 57,114,583 (GRCm39) I82M probably benign Het
Vmn2r129 T C 4: 156,687,014 (GRCm39) noncoding transcript Het
Vps41 G T 13: 19,023,904 (GRCm39) probably null Het
Wnt5a A G 14: 28,235,274 (GRCm39) Y86C probably damaging Het
Zfp629 T C 7: 127,209,616 (GRCm39) H731R probably damaging Het
Zfp712 T C 13: 67,189,960 (GRCm39) E189G 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
R1162:Phf2 UTSW 13 48,973,117 (GRCm39) splice site probably benign
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
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 PCR Primer
(F):5'- CAGGCTACTGCTGTGTGATTC -3'
(R):5'- AGAAGCTCTGACTTGTCTTCACC -3'

Sequencing Primer
(F):5'- TGAGCTGCCCTCCTGTGAG -3'
(R):5'- GACTTGTCTTCACCTCATCAGC -3'
Posted On 2014-10-01