Mutagenetix > Incidental Mutation

Incidental Mutation 'R2296:Phf2'

245185

Institutional Source

Beutler Lab

Gene Symbol

Phf2

Ensembl Gene

ENSMUSG00000038025

Gene Name

PHD finger protein 2

Synonyms

MMRRC Submission

040295-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R2296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48955226-49024361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48988754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 39 (E39G)

Ref Sequence

ENSEMBL: ENSMUSP00000047308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035540]

AlphaFold

Q9WTU0

Predicted Effect

unknown
Transcript: ENSMUST00000035540
AA Change: E39G

SMART Domains

Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: E39G

Domain	Start	End	E-Value	Type
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: 97.4%
20x: 95.3%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,582,275 (GRCm39)	E68G	possibly damaging	Het
Apob	A	G	12: 8,044,879 (GRCm39)	D820G	probably damaging	Het
Bglap3	G	C	3: 88,276,819 (GRCm39)		probably benign	Het
Calr3	C	T	8: 73,178,469 (GRCm39)		probably benign	Het
Carmil1	A	G	13: 24,299,492 (GRCm39)	L344P	probably damaging	Het
Cop1	G	A	1: 159,072,220 (GRCm39)	V109M	possibly damaging	Het
Dennd4b	T	A	3: 90,182,821 (GRCm39)	N879K	probably damaging	Het
Fam13b	T	C	18: 34,627,814 (GRCm39)	D129G	possibly damaging	Het
Fam222a	C	A	5: 114,749,027 (GRCm39)	H74Q	possibly damaging	Het
Gata5	A	G	2: 179,970,113 (GRCm39)	M278T	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Iigp1c	T	A	18: 60,378,542 (GRCm39)	C26S	probably benign	Het
Inpp5k	T	G	11: 75,530,313 (GRCm39)	L251R	probably damaging	Het
Lrrc36	T	G	8: 106,187,651 (GRCm39)	D522E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nras	T	A	3: 102,966,350 (GRCm39)		probably null	Het
Nudt12	A	G	17: 59,317,044 (GRCm39)	V201A	possibly damaging	Het
Serpinb3a	A	T	1: 106,975,291 (GRCm39)	V172D	probably damaging	Het
Stab2	T	A	10: 86,790,338 (GRCm39)		probably null	Het
Trim3	A	G	7: 105,262,481 (GRCm39)	I559T	probably damaging	Het
Trp53bp1	A	T	2: 121,039,728 (GRCm39)	S1304T	possibly damaging	Het
Xrcc5	A	T	1: 72,385,485 (GRCm39)	K525N	probably benign	Het
Zfp110	T	A	7: 12,583,467 (GRCm39)	V705D	probably damaging	Het

Other mutations in Phf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTAAGTGTGGTCCTGGCAAG -3'
(R):5'- ATTCATGTTTGAGGAGGACAGC -3'

Sequencing Primer
(F):5'- GCATGACTGCCTAGGAGGG -3'
(R):5'- CATGTTTGAGGAGGACAGCTCTAC -3'

Posted On

2014-10-30