Mutagenetix > Incidental Mutation

Incidental Mutation 'R7820:Pou4f2'

628752

Institutional Source

Beutler Lab

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

MMRRC Submission

045874-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7820 (G1)

Quality Score

55.0072

Status

Validated

Chromosome

Chromosomal Location

79159639-79163274 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 79163131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034115 (fasta)

Gene Model

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

AlphaFold

Q63934

Predicted Effect

probably benign
Transcript: ENSMUST00000034115

SMART Domains

Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (49/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	T	A	7: 50,249,371 (GRCm39)	I135N	probably benign	Het
Abca14	A	T	7: 119,811,944 (GRCm39)	N175I	probably benign	Het
Adam12	A	G	7: 133,599,917 (GRCm39)	V99A	probably benign	Het
Ankfn1	G	T	11: 89,311,956 (GRCm39)	P730T	probably damaging	Het
Arhgap21	A	G	2: 20,867,983 (GRCm39)	S847P	probably damaging	Het
Cacna1i	C	T	15: 80,256,573 (GRCm39)	A989V	probably benign	Het
Cacnb2	T	A	2: 14,965,477 (GRCm39)	N152K	probably damaging	Het
Cemip2	C	T	19: 21,784,825 (GRCm39)	A436V	probably damaging	Het
Chd3	A	T	11: 69,244,064 (GRCm39)	Y1334N	probably damaging	Het
Cimap1a	A	C	7: 140,429,176 (GRCm39)	T128P	probably benign	Het
Clca4a	A	T	3: 144,666,432 (GRCm39)	D473E	probably damaging	Het
Crhr2	A	C	6: 55,079,764 (GRCm39)	I191S	probably damaging	Het
Eef1akmt3	T	C	10: 126,869,063 (GRCm39)	Q137R	possibly damaging	Het
Eml1	T	C	12: 108,481,433 (GRCm39)	I432T	possibly damaging	Het
Fcgbp	A	G	7: 27,819,784 (GRCm39)	T2504A	probably benign	Het
Hmgxb4	G	T	8: 75,727,574 (GRCm39)	E186*	probably null	Het
Ighv16-1	T	C	12: 114,032,589 (GRCm39)	N71S	probably benign	Het
Kif2b	A	G	11: 91,468,100 (GRCm39)	V61A	probably benign	Het
Map1b	C	T	13: 99,567,685 (GRCm39)	G1679R	unknown	Het
Mast4	G	A	13: 102,890,596 (GRCm39)	S1086L	probably damaging	Het
Mcm8	A	G	2: 132,682,692 (GRCm39)	E724G	possibly damaging	Het
Mfap5	C	A	6: 122,497,880 (GRCm39)	D51E	probably damaging	Het
Mon1a	T	C	9: 107,778,511 (GRCm39)	L245P	probably damaging	Het
Mtx1	G	T	3: 89,121,315 (GRCm39)	H106Q	probably benign	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Ngp	A	G	9: 110,249,932 (GRCm39)	T77A	probably benign	Het
Oca2	A	T	7: 55,981,713 (GRCm39)	I612F	probably damaging	Het
Or11a4	A	T	17: 37,536,786 (GRCm39)	M257L	probably benign	Het
Or4c119	T	A	2: 88,986,592 (GRCm39)	D309V	probably benign	Het
Or8b3	A	T	9: 38,314,862 (GRCm39)	I228F	probably damaging	Het
Otop3	T	A	11: 115,230,414 (GRCm39)	V97D	probably damaging	Het
Ovgp1	A	G	3: 105,893,837 (GRCm39)		probably benign	Het
Pdc	T	C	1: 150,209,021 (GRCm39)	I168T	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Plekha7	A	T	7: 115,836,715 (GRCm39)	F18I	probably benign	Het
Plppr4	A	G	3: 117,115,598 (GRCm39)	I753T	possibly damaging	Het
Pms2	T	G	5: 143,851,451 (GRCm39)	S123A	possibly damaging	Het
Ptch1	A	T	13: 63,670,875 (GRCm39)	L885Q	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs11	T	A	17: 26,424,169 (GRCm39)		probably null	Het
Samd3	T	A	10: 26,109,416 (GRCm39)		probably null	Het
Slit3	A	G	11: 35,591,235 (GRCm39)	D1349G	probably benign	Het
Sorbs2	A	T	8: 46,249,593 (GRCm39)	Q868L	probably null	Het
Speer4f1	T	A	5: 17,684,528 (GRCm39)	S185R	probably damaging	Het
Spin2f	A	G	X: 30,905,635 (GRCm39)	K28R	probably benign	Het
Tas2r125	T	G	6: 132,886,841 (GRCm39)	I76M	probably benign	Het
Tex15	A	T	8: 34,065,090 (GRCm39)	I1507F	probably damaging	Het
Vmn1r215	A	T	13: 23,260,715 (GRCm39)	I252F	probably damaging	Het
Vmn1r71	A	G	7: 10,482,652 (GRCm39)	F12S	possibly damaging	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zfp764l1	A	T	7: 126,990,608 (GRCm39)	W460R	possibly damaging	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
IGL02750:Pou4f2	APN	8	79,161,692 (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
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

Predicted Primers

PCR Primer
(F):5'- TTGGAAGACAAGCTCTCCG -3'
(R):5'- TATAACTCCACCGCCTCGATG -3'

Sequencing Primer
(F):5'- ACTGTGTAGCGCCGAGTAC -3'
(R):5'- TCGATGAGCTGGGGCAC -3'

Posted On

2020-06-19