Mutagenetix > Incidental Mutation

Incidental Mutation 'R6192:Phf2'

502668

Institutional Source

Beutler Lab

Gene Symbol

Phf2

Ensembl Gene

ENSMUSG00000038025

Gene Name

PHD finger protein 2

Synonyms

MMRRC Submission

044332-MU

Accession Numbers

Essential gene?

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

Stock #

R6192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48955226-49024361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48973583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 361 (T361S)

Ref Sequence

ENSEMBL: ENSMUSP00000047308 (fasta)

Gene Model

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

AlphaFold

Q9WTU0

Predicted Effect

unknown
Transcript: ENSMUST00000035540
AA Change: T361S

SMART Domains

Protein: ENSMUSP00000047308
Gene: ENSMUSG00000038025
AA Change: T361S

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

0.1778

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,774,002 (GRCm39)	E1137G	probably damaging	Het
Adcy9	T	C	16: 4,105,818 (GRCm39)	I1099V	probably benign	Het
Angptl4	A	T	17: 33,996,015 (GRCm39)	N320K	probably benign	Het
Atp6v0a2	G	A	5: 124,767,268 (GRCm39)	M10I	probably benign	Het
Bltp1	C	T	3: 37,042,318 (GRCm39)	T2768I	probably benign	Het
Cbfa2t3	A	G	8: 123,361,135 (GRCm39)	S395P	probably benign	Het
Cenpe	C	T	3: 134,954,291 (GRCm39)	T1716I	possibly damaging	Het
Chsy1	T	C	7: 65,820,625 (GRCm39)	Y287H	probably benign	Het
Col4a4	G	T	1: 82,462,151 (GRCm39)	P1075T	probably damaging	Het
Cryab	T	A	9: 50,665,813 (GRCm39)	M68K	probably damaging	Het
Cybrd1	T	A	2: 70,967,858 (GRCm39)	L143Q	probably null	Het
Dcaf7	T	C	11: 105,942,584 (GRCm39)	V177A	probably damaging	Het
Dclk2	T	C	3: 86,722,457 (GRCm39)	Y392C	probably damaging	Het
Ddx20	T	C	3: 105,586,036 (GRCm39)	T770A	probably benign	Het
Dennd1b	T	A	1: 139,095,456 (GRCm39)	D501E	probably benign	Het
Dgkh	A	T	14: 78,865,504 (GRCm39)	Y26*	probably null	Het
Dnajc2	A	G	5: 21,973,646 (GRCm39)	V196A	probably damaging	Het
Etl4	A	G	2: 20,806,362 (GRCm39)	K827E	probably damaging	Het
Fam8a1	C	T	13: 46,823,099 (GRCm39)	P13L	probably damaging	Het
Gfra3	T	C	18: 34,837,582 (GRCm39)	S139G	possibly damaging	Het
Ggnbp1	G	A	17: 27,248,847 (GRCm39)	V139I	possibly damaging	Het
Gja1	T	A	10: 56,264,330 (GRCm39)	Y230N	probably damaging	Het
Gldc	A	G	19: 30,111,172 (GRCm39)	S535P	probably damaging	Het
Gm45871	A	G	18: 90,610,357 (GRCm39)	T532A	probably benign	Het
Gm5431	T	A	11: 48,785,220 (GRCm39)	D107V	probably benign	Het
Herc2	C	T	7: 55,857,510 (GRCm39)	T4031M	probably damaging	Het
Iffo2	G	A	4: 139,333,769 (GRCm39)	A282T	probably damaging	Het
Ifi44	T	G	3: 151,451,276 (GRCm39)		probably null	Het
Igkv4-53	C	T	6: 69,625,915 (GRCm39)	R62H	possibly damaging	Het
Lrp11	A	C	10: 7,474,454 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,338,833 (GRCm39)	T1755A	probably benign	Het
Mcm3ap	A	T	10: 76,336,934 (GRCm39)	K1316M	probably damaging	Het
Mctp1	T	G	13: 76,971,082 (GRCm39)		probably null	Het
Mroh5	A	T	15: 73,662,630 (GRCm39)	I396N	probably damaging	Het
Mrps5	T	A	2: 127,443,305 (GRCm39)	H294Q	probably damaging	Het
Muc16	A	T	9: 18,569,985 (GRCm39)	S845T	unknown	Het
Mycbpap	A	T	11: 94,398,557 (GRCm39)	V474E	probably damaging	Het
Mzt2	G	C	16: 15,666,551 (GRCm39)	S122W	probably benign	Het
Neb	T	C	2: 52,146,802 (GRCm39)	I2821V	probably benign	Het
Ngef	A	T	1: 87,415,622 (GRCm39)	D347E	probably damaging	Het
Nlrp14	T	C	7: 106,781,646 (GRCm39)	V281A	probably benign	Het
Obscn	A	T	11: 58,888,864 (GRCm39)	Y7597N	unknown	Het
Or4k47	T	C	2: 111,451,520 (GRCm39)	R300G	possibly damaging	Het
Patj	G	T	4: 98,344,394 (GRCm39)	G569W	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pik3r6	A	G	11: 68,434,455 (GRCm39)	E552G	probably damaging	Het
Pitx2	A	G	3: 129,009,521 (GRCm39)	T147A	probably benign	Het
Pkmyt1	G	A	17: 23,953,167 (GRCm39)	G241D	probably damaging	Het
Pola2	A	T	19: 6,003,802 (GRCm39)	V191D	possibly damaging	Het
Ralgapb	T	A	2: 158,291,367 (GRCm39)		probably null	Het
Rapgef4	T	C	2: 71,811,661 (GRCm39)	S11P	probably benign	Het
Rnf10	G	A	5: 115,395,136 (GRCm39)	R151C	probably damaging	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sbno2	A	T	10: 79,895,850 (GRCm39)	L977Q	probably damaging	Het
Sec14l3	G	A	11: 4,025,566 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,600,612 (GRCm39)	N243K	possibly damaging	Het
Slco2b1	T	A	7: 99,334,779 (GRCm39)	I231F	probably damaging	Het
Spag8	A	G	4: 43,652,458 (GRCm39)	F294S	probably damaging	Het
Speer4f1	G	A	5: 17,684,493 (GRCm39)	A174T	probably damaging	Het
Spred3	T	C	7: 28,862,402 (GRCm39)	D147G	probably benign	Het
Stard9	A	G	2: 120,527,241 (GRCm39)	D1166G	probably damaging	Het
Svep1	G	T	4: 58,104,536 (GRCm39)	T1229K	possibly damaging	Het
Tanc1	T	A	2: 59,669,305 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,737,800 (GRCm39)	Y420C	probably damaging	Het
Tubd1	A	T	11: 86,448,619 (GRCm39)	M311L	probably benign	Het
Tulp3	G	A	6: 128,332,703 (GRCm39)		probably null	Het
Usp42	T	C	5: 143,702,942 (GRCm39)	T560A	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,934 (GRCm39)	Y112F	probably damaging	Het
Vmn2r4	A	T	3: 64,322,699 (GRCm39)	C7S	probably benign	Het
Wrn	A	G	8: 33,774,682 (GRCm39)	M652T	probably benign	Het
Wsb1	G	A	11: 79,139,336 (GRCm39)	P120L	possibly damaging	Het
Zfp142	T	C	1: 74,609,667 (GRCm39)	E1376G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	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
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
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'- GAGCCCTGTCTTAGTGGATC -3'
(R):5'- CCATGGTAGCTGTCACTTTGGG -3'

Sequencing Primer
(F):5'- AGCCCTGTCTTAGTGGATCAGAAC -3'
(R):5'- ACTTTGGGTGACATCAAGCC -3'

Posted On

2018-02-27