Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Pou4f2'

188421

Institutional Source

Beutler Lab

Gene Symbol

Pou4f2

Ensembl Gene

ENSMUSG00000031688

Gene Name

POU domain, class 4, transcription factor 2

Synonyms

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

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78433010-78436645 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78434831 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 381 (A381D)

Ref Sequence

ENSEMBL: ENSMUSP00000034115 (fasta)

Gene Model

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

AlphaFold

Q63934

Predicted Effect

probably damaging
Transcript: ENSMUST00000034115
AA Change: A381D

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

SMART Domains

Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688
AA Change: A381D

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

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528 (GRCm38)	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963 (GRCm38)	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651 (GRCm38)	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954 (GRCm38)	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628 (GRCm38)	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746 (GRCm38)	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766 (GRCm38)	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824 (GRCm38)	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726 (GRCm38)	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361 (GRCm38)	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668 (GRCm38)		probably null	Het
Csmd3	G	A	15: 47,741,170 (GRCm38)	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976 (GRCm38)	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361 (GRCm38)	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103 (GRCm38)	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941 (GRCm38)	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024 (GRCm38)	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761 (GRCm38)	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851 (GRCm38)	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868 (GRCm38)	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493 (GRCm38)	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448 (GRCm38)	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793 (GRCm38)	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162 (GRCm38)		probably null	Het
Ireb2	C	T	9: 54,881,518 (GRCm38)	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189 (GRCm38)	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011 (GRCm38)	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636 (GRCm38)	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643 (GRCm38)	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622 (GRCm38)	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998 (GRCm38)	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174 (GRCm38)	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802 (GRCm38)	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944 (GRCm38)	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161 (GRCm38)	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733 (GRCm38)	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516 (GRCm38)	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000 (GRCm38)	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812 (GRCm38)	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250 (GRCm38)	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750 (GRCm38)		probably null	Het
Plxnc1	A	C	10: 94,841,551 (GRCm38)	L938R	probably benign	Het
Prdm4	A	G	10: 85,899,223 (GRCm38)	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147 (GRCm38)	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783 (GRCm38)	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881 (GRCm38)	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436 (GRCm38)	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Slc5a6	A	G	5: 31,042,644 (GRCm38)	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080 (GRCm38)	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839 (GRCm38)	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616 (GRCm38)	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371 (GRCm38)	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579 (GRCm38)	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605 (GRCm38)	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840 (GRCm38)	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961 (GRCm38)	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233 (GRCm38)	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176 (GRCm38)	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669 (GRCm38)	R361*	probably null	Het
Vcan	T	C	13: 89,703,547 (GRCm38)	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381 (GRCm38)	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423 (GRCm38)	R6K	probably benign	Het
Zan	T	A	5: 137,403,050 (GRCm38)	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502 (GRCm38)	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971 (GRCm38)	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880 (GRCm38)	N433K	probably benign	Het

Other mutations in Pou4f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Pou4f2	APN	8	78,435,105 (GRCm38)	missense	probably damaging	0.99
IGL01578:Pou4f2	APN	8	78,435,655 (GRCm38)	missense	probably damaging	1.00
IGL02750:Pou4f2	APN	8	78,435,063 (GRCm38)	missense	probably damaging	1.00
R0538:Pou4f2	UTSW	8	78,435,662 (GRCm38)	missense	probably damaging	1.00
R0597:Pou4f2	UTSW	8	78,435,240 (GRCm38)	missense	probably benign	0.00
R1328:Pou4f2	UTSW	8	78,436,130 (GRCm38)	missense	probably benign	0.01
R2376:Pou4f2	UTSW	8	78,436,185 (GRCm38)	missense	unknown
R3980:Pou4f2	UTSW	8	78,435,438 (GRCm38)	missense	possibly damaging	0.88
R4770:Pou4f2	UTSW	8	78,436,401 (GRCm38)	missense	unknown
R4771:Pou4f2	UTSW	8	78,435,236 (GRCm38)	missense	possibly damaging	0.67
R5288:Pou4f2	UTSW	8	78,436,329 (GRCm38)	missense	unknown
R5395:Pou4f2	UTSW	8	78,435,072 (GRCm38)	missense	probably damaging	1.00
R5930:Pou4f2	UTSW	8	78,436,391 (GRCm38)	missense	unknown
R6036:Pou4f2	UTSW	8	78,435,474 (GRCm38)	missense	probably damaging	0.96
R6036:Pou4f2	UTSW	8	78,435,474 (GRCm38)	missense	probably damaging	0.96
R6883:Pou4f2	UTSW	8	78,435,678 (GRCm38)	missense	probably benign	0.01
R7300:Pou4f2	UTSW	8	78,436,106 (GRCm38)	splice site	probably null
R7820:Pou4f2	UTSW	8	78,436,502 (GRCm38)	start gained	probably benign
R7983:Pou4f2	UTSW	8	78,434,939 (GRCm38)	missense	probably benign	0.16
R8944:Pou4f2	UTSW	8	78,435,303 (GRCm38)	missense
R9171:Pou4f2	UTSW	8	78,436,119 (GRCm38)	missense	probably benign	0.03
Z1088:Pou4f2	UTSW	8	78,435,601 (GRCm38)	missense	probably benign	0.00
Z1177:Pou4f2	UTSW	8	78,435,180 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCTCTGATGAAGCCGAGCAGCC -3'
(R):5'- GAGTCTCTCACGCTGTCACACAAC -3'

Sequencing Primer
(F):5'- GGACAGCTCTGCTACAACTTG -3'
(R):5'- ATGATCGCGCTCAAGCC -3'

Posted On

2014-05-09