Mutagenetix > Incidental Mutations

Incidental Mutation 'R2034:Phf2'

224369

Institutional Source

Beutler Lab

Gene Symbol

Phf2

Ensembl Gene

ENSMUSG00000038025

Gene Name

PHD finger protein 2

Synonyms

MMRRC Submission

040041-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48801750-48871119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48817730 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 489 (S489P)

Ref Sequence

ENSEMBL: ENSMUSP00000047308 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000035540
AA Change: S489P

SMART Domains

Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: S489P

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

Meta Mutation Damage Score

0.0659

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,900,559	I65V	probably benign	Het
Abca13	A	G	11: 9,292,628	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,835,235	N184K	probably benign	Het
Ampd2	A	T	3: 108,077,363	I459N	possibly damaging	Het
Anapc1	T	C	2: 128,648,458	D1018G	possibly damaging	Het
Ano9	T	A	7: 141,108,135	I223F	probably damaging	Het
B3gnt6	A	G	7: 98,194,018	L245P	possibly damaging	Het
Bag6	G	A	17: 35,144,692	R784Q	probably damaging	Het
Brca1	C	G	11: 101,489,849	S1786T	probably benign	Het
Btbd3	T	G	2: 138,278,983	S26A	probably benign	Het
Cacna1d	C	A	14: 30,089,863	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491	T6I	probably damaging	Het
Col7a1	T	C	9: 108,963,007	V1262A	unknown	Het
Crh	C	A	3: 19,694,098	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,613,538	L64*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddc	T	A	11: 11,880,456	I63L	probably benign	Het
Eif3a	C	T	19: 60,762,130		probably benign	Het
Fsip2	T	A	2: 82,989,494	N5190K	probably benign	Het
Gm5420	A	G	10: 21,691,613		noncoding transcript	Het
Grb14	A	G	2: 64,923,529		probably benign	Het
Gsap	A	T	5: 21,270,595	I545F	probably damaging	Het
Hectd1	A	T	12: 51,757,116		probably null	Het
Helz2	G	A	2: 181,232,578	P2041L	probably damaging	Het
Herc1	G	A	9: 66,441,972	A2038T	probably benign	Het
Il10	C	A	1: 131,024,185	Q152K	probably benign	Het
Klrg1	A	G	6: 122,279,637		probably null	Het
Lrig2	T	C	3: 104,494,092	T160A	probably benign	Het
Mmd2	A	T	5: 142,575,184		probably null	Het
Mmp2	C	T	8: 92,836,912	S338F	probably damaging	Het
Nalcn	T	G	14: 123,283,603	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,164,983	S909G	probably benign	Het
Neb	A	T	2: 52,280,611	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,458,370	I637V	possibly damaging	Het
Npw	G	A	17: 24,658,268	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,275,564		probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nup188	T	A	2: 30,310,085		probably benign	Het
Olfr1444	T	A	19: 12,861,787	M4K	possibly damaging	Het
Olfr726	T	C	14: 50,083,983	M233V	probably benign	Het
Parp4	A	T	14: 56,634,263	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,422,493	V292A	probably benign	Het
Pcnx2	A	G	8: 125,818,667		probably null	Het
Pik3r5	T	A	11: 68,493,577	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,222,357	E432D	probably damaging	Het
Pink1	T	C	4: 138,318,032	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,200,669	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,780,594	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,157,927	V492A	possibly damaging	Het
Prp2	G	T	6: 132,595,984		probably null	Het
Rabl6	T	C	2: 25,585,432	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605		probably null	Het
Rps6kb2	T	C	19: 4,161,107	T140A	probably damaging	Het
S100a11	T	C	3: 93,526,122	I91T	probably benign	Het
Serpine2	A	G	1: 79,796,852	L230P	probably damaging	Het
Sh3tc2	A	G	18: 61,987,666	D370G	probably damaging	Het
Sim2	A	C	16: 94,085,942	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,698	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,183,583	L419P	probably damaging	Het
Srgap1	C	T	10: 121,792,746	E817K	probably damaging	Het
Stag3	A	G	5: 138,298,001	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,820,421	N361S	probably damaging	Het
Tmco6	A	G	18: 36,737,856		probably null	Het
Tmem104	T	A	11: 115,243,547	I303N	probably benign	Het
Ttll6	G	T	11: 96,135,526	D86Y	probably damaging	Het
Vmn1r120	T	G	7: 21,052,958	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,883,989	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,426,373		probably benign	Het
Vwa3a	A	T	7: 120,782,645	K568*	probably null	Het
Zcchc11	C	T	4: 108,512,195	R651W	probably damaging	Het

Other mutations in Phf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Phf2	APN	13	48819607	missense	unknown
IGL01554:Phf2	APN	13	48805879	nonsense	probably null
IGL02063:Phf2	APN	13	48821642	missense	unknown
IGL02456:Phf2	APN	13	48828846	missense	unknown
IGL02498:Phf2	APN	13	48805239	missense	unknown
IGL02586:Phf2	APN	13	48813858	splice site	probably benign
IGL02688:Phf2	APN	13	48805839	missense	unknown
H8441:Phf2	UTSW	13	48804365	missense	possibly damaging	0.67
R0265:Phf2	UTSW	13	48828794	missense	unknown
R0389:Phf2	UTSW	13	48804489	missense	unknown
R0535:Phf2	UTSW	13	48813947	missense	unknown
R1162:Phf2	UTSW	13	48819641	splice site	probably benign
R1342:Phf2	UTSW	13	48804477	missense	unknown
R1551:Phf2	UTSW	13	48803603	missense	probably damaging	1.00
R1551:Phf2	UTSW	13	48832103	missense	unknown
R1567:Phf2	UTSW	13	48832113	missense	unknown
R1698:Phf2	UTSW	13	48807630	missense	unknown
R1766:Phf2	UTSW	13	48819557	missense	unknown
R1785:Phf2	UTSW	13	48817567	missense	unknown
R1997:Phf2	UTSW	13	48828908	missense	unknown
R2096:Phf2	UTSW	13	48832113	nonsense	probably null
R2147:Phf2	UTSW	13	48804689	missense	unknown
R2149:Phf2	UTSW	13	48804689	missense	unknown
R2154:Phf2	UTSW	13	48820073	missense	unknown
R2296:Phf2	UTSW	13	48835278	missense	unknown
R4212:Phf2	UTSW	13	48820613	missense	unknown
R4749:Phf2	UTSW	13	48821709	intron	probably null
R4770:Phf2	UTSW	13	48803603	missense	probably damaging	1.00
R4948:Phf2	UTSW	13	48807722	missense	unknown
R4989:Phf2	UTSW	13	48807844	missense	unknown
R5792:Phf2	UTSW	13	48820042	splice site	probably null
R5848:Phf2	UTSW	13	48820070	missense	unknown
R6092:Phf2	UTSW	13	48816057	missense	unknown
R6165:Phf2	UTSW	13	48813865	critical splice donor site	probably null
R6192:Phf2	UTSW	13	48820107	missense	unknown
R6237:Phf2	UTSW	13	48803655	nonsense	probably null
R6249:Phf2	UTSW	13	48805872	missense	unknown
R6489:Phf2	UTSW	13	48826182	missense	unknown
R7616:Phf2	UTSW	13	48807607	missense	unknown
V1024:Phf2	UTSW	13	48804365	missense	possibly damaging	0.67
X0027:Phf2	UTSW	13	48832118	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCAAGCAGGTCTAGGTTGGG -3'
(R):5'- CATGTCACATGGTGTCAGCTG -3'

Sequencing Primer
(F):5'- CAGGTCTAGGTTGGGGATGG -3'
(R):5'- CCTGGCATGGTCTAGAGGGAAC -3'

Posted On

2014-08-25