Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02750:Pou4f2'

306241

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pou4f2

Ensembl Gene

ENSMUSG00000031688

Gene Name

POU domain, class 4, transcription factor 2

Synonyms

Pou4f-rs1, Brn-3b, Brn3b, Brn-3.2, mBrn3-3R

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02750

Quality Score

Status

Chromosome

Chromosomal Location

79159639-79163274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79161692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 304 (F304I)

Ref Sequence

ENSEMBL: ENSMUSP00000034115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034115]

AlphaFold

Q63934

Predicted Effect

probably damaging
Transcript: ENSMUST00000034115
AA Change: F304I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688
AA Change: F304I

Domain	Start	End	E-Value	Type
low complexity region	31	86	N/A	INTRINSIC
low complexity region	109	118	N/A	INTRINSIC
low complexity region	127	137	N/A	INTRINSIC
low complexity region	151	168	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
POU	252	329	1.33e-51	SMART
HOX	347	409	3.31e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygote null mice have a 70% reduction in retinal ganglion cells, a thin retina, and an optic nerve with a decreased diameter and disorganized axons. Eyes have miotic pupils and defective optokinetic reflexes that prevent photo-entrainment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl1	T	C	9: 14,460,087 (GRCm39)	K884R	probably benign	Het
Ano3	T	A	2: 110,496,329 (GRCm39)		probably benign	Het
Baz2b	C	A	2: 59,799,002 (GRCm39)	S374I	possibly damaging	Het
Brd4	G	A	17: 32,417,353 (GRCm39)		probably benign	Het
Cd3g	C	A	9: 44,882,608 (GRCm39)		probably benign	Het
Ckmt1	C	T	2: 121,194,096 (GRCm39)		probably benign	Het
Clcnkb	T	C	4: 141,132,673 (GRCm39)		probably null	Het
Dkkl1	C	T	7: 44,859,536 (GRCm39)		probably null	Het
Ehmt1	G	A	2: 24,753,881 (GRCm39)	T161I	probably damaging	Het
Ern2	A	G	7: 121,780,629 (GRCm39)		probably benign	Het
Fmnl2	T	C	2: 52,993,709 (GRCm39)	I368T	possibly damaging	Het
Gabra5	G	T	7: 57,157,739 (GRCm39)	S25Y	probably benign	Het
Gemin7	C	T	7: 19,299,344 (GRCm39)	V84M	probably null	Het
Gm17654	A	G	14: 43,815,656 (GRCm39)		probably benign	Het
Grk6	T	C	13: 55,599,356 (GRCm39)	F186S	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,731 (GRCm39)	H663R	probably damaging	Het
Gtf3c1	T	A	7: 125,275,684 (GRCm39)	I581F	probably damaging	Het
Herc2	T	A	7: 55,854,127 (GRCm39)		probably benign	Het
Hook3	A	T	8: 26,585,782 (GRCm39)		probably benign	Het
Ints4	T	A	7: 97,166,964 (GRCm39)		probably null	Het
Kpna6	T	C	4: 129,555,170 (GRCm39)	N20D	probably damaging	Het
Krtap29-1	T	C	11: 99,869,510 (GRCm39)	S124G	probably benign	Het
Krtap4-16	C	A	11: 99,742,106 (GRCm39)	R98L	possibly damaging	Het
Lrrc28	T	C	7: 67,181,431 (GRCm39)	D268G	probably damaging	Het
Mcm6	T	A	1: 128,271,209 (GRCm39)	Q470L	probably damaging	Het
Neb	T	C	2: 52,181,067 (GRCm39)	H1180R	probably benign	Het
Nxpe3	C	A	16: 55,680,738 (GRCm39)	V285L	probably benign	Het
Or10al2	T	A	17: 37,983,500 (GRCm39)	C195*	probably null	Het
Or14a260	T	A	7: 85,984,752 (GRCm39)	N284I	probably damaging	Het
Or4k37	A	G	2: 111,159,633 (GRCm39)	R290G	probably damaging	Het
Pdcd1	A	G	1: 93,967,269 (GRCm39)		probably benign	Het
Pnkp	A	G	7: 44,509,611 (GRCm39)		probably benign	Het
Rita1	G	A	5: 120,747,716 (GRCm39)	T194M	possibly damaging	Het
Rnpc3	T	C	3: 113,415,588 (GRCm39)	T150A	possibly damaging	Het
Sema3b	T	C	9: 107,480,363 (GRCm39)	T168A	probably benign	Het
Skint5	T	A	4: 113,396,559 (GRCm39)	M1205L	unknown	Het
Sox13	A	C	1: 133,311,534 (GRCm39)	I566S	probably benign	Het
Tbc1d32	T	C	10: 56,074,587 (GRCm39)	T209A	possibly damaging	Het
Tonsl	G	T	15: 76,517,589 (GRCm39)	P710Q	probably damaging	Het
Trpm5	T	C	7: 142,628,221 (GRCm39)	H1018R	possibly damaging	Het
Ubr2	A	T	17: 47,280,208 (GRCm39)	M647K	probably benign	Het
Ubr7	A	T	12: 102,737,537 (GRCm39)	T395S	possibly damaging	Het
Uri1	G	A	7: 37,666,906 (GRCm39)	R176*	probably null	Het
Vmn1r188	A	T	13: 22,272,900 (GRCm39)	I285F	probably damaging	Het
Vmn2r116	T	A	17: 23,616,608 (GRCm39)		probably benign	Het
Vmn2r2	C	A	3: 64,024,823 (GRCm39)	C586F	probably damaging	Het
Vmn2r96	T	A	17: 18,802,851 (GRCm39)	W62R	probably benign	Het
Zfp24	A	T	18: 24,150,410 (GRCm39)	S167T	possibly damaging	Het
Zfp462	A	G	4: 55,060,236 (GRCm39)	K1254R	probably null	Het

Other mutations in Pou4f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Pou4f2	APN	8	79,161,734 (GRCm39)	missense	probably damaging	0.99
IGL01578:Pou4f2	APN	8	79,162,284 (GRCm39)	missense	probably damaging	1.00
R0538:Pou4f2	UTSW	8	79,162,291 (GRCm39)	missense	probably damaging	1.00
R0597:Pou4f2	UTSW	8	79,161,869 (GRCm39)	missense	probably benign	0.00
R1328:Pou4f2	UTSW	8	79,162,759 (GRCm39)	missense	probably benign	0.01
R1680:Pou4f2	UTSW	8	79,161,460 (GRCm39)	missense	probably damaging	1.00
R2376:Pou4f2	UTSW	8	79,162,814 (GRCm39)	missense	unknown
R3980:Pou4f2	UTSW	8	79,162,067 (GRCm39)	missense	possibly damaging	0.88
R4770:Pou4f2	UTSW	8	79,163,030 (GRCm39)	missense	unknown
R4771:Pou4f2	UTSW	8	79,161,865 (GRCm39)	missense	possibly damaging	0.67
R5288:Pou4f2	UTSW	8	79,162,958 (GRCm39)	missense	unknown
R5395:Pou4f2	UTSW	8	79,161,701 (GRCm39)	missense	probably damaging	1.00
R5930:Pou4f2	UTSW	8	79,163,020 (GRCm39)	missense	unknown
R6036:Pou4f2	UTSW	8	79,162,103 (GRCm39)	missense	probably damaging	0.96
R6036:Pou4f2	UTSW	8	79,162,103 (GRCm39)	missense	probably damaging	0.96
R6883:Pou4f2	UTSW	8	79,162,307 (GRCm39)	missense	probably benign	0.01
R7300:Pou4f2	UTSW	8	79,162,735 (GRCm39)	splice site	probably null
R7820:Pou4f2	UTSW	8	79,163,131 (GRCm39)	start gained	probably benign
R7983:Pou4f2	UTSW	8	79,161,568 (GRCm39)	missense	probably benign	0.16
R8944:Pou4f2	UTSW	8	79,161,932 (GRCm39)	missense
R9171:Pou4f2	UTSW	8	79,162,748 (GRCm39)	missense	probably benign	0.03
Z1088:Pou4f2	UTSW	8	79,162,230 (GRCm39)	missense	probably benign	0.00
Z1177:Pou4f2	UTSW	8	79,161,809 (GRCm39)	nonsense	probably null

Posted On

2015-04-16