Mutagenetix > Incidental Mutation

Incidental Mutation 'R4985:Pou3f2'

385814

Institutional Source

Beutler Lab

Gene Symbol

Pou3f2

Ensembl Gene

ENSMUSG00000095139

Gene Name

POU domain, class 3, transcription factor 2

Synonyms

Brn2, 9430075J19Rik, Otf7, A230098E07Rik, Brn-2

MMRRC Submission

042579-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4985 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

22482780-22488366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22487588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 182 (S182T)

Ref Sequence

ENSEMBL: ENSMUSP00000136147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178174]

AlphaFold

P31360

Predicted Effect

probably benign
Transcript: ENSMUST00000178174
AA Change: S182T

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136147
Gene: ENSMUSG00000095139
AA Change: S182T

Domain	Start	End	E-Value	Type
coiled coil region	122	152	N/A	INTRINSIC
low complexity region	158	169	N/A	INTRINSIC
low complexity region	220	261	N/A	INTRINSIC
POU	264	338	9.06e-54	SMART
HOX	356	418	4.2e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203909

Meta Mutation Damage Score

0.0725

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous mutation of this gene results in lethality by 10 days of age. Mutant animals are growth retarded, have hyperkeratotic, flaky skin, and exhibit loss of the posterior pituitary and disruption of late endocrine hypothalamic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921508M14Rik	A	T	12: 34,924,457 (GRCm39)		probably benign	Het
Actn4	A	G	7: 28,618,411 (GRCm39)	L83P	probably damaging	Het
Adgb	T	C	10: 10,276,376 (GRCm39)	R331G	possibly damaging	Het
Bmal1	T	C	7: 112,884,280 (GRCm39)	V106A	probably damaging	Het
Brf1	G	T	12: 112,932,990 (GRCm39)		probably null	Het
Cd248	C	T	19: 5,119,820 (GRCm39)	T556I	probably damaging	Het
Cdkn2aip	G	T	8: 48,166,480 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,901,772 (GRCm39)	E399G	possibly damaging	Het
Col9a3	G	A	2: 180,245,193 (GRCm39)	R134H	unknown	Het
Ddb2	T	C	2: 91,042,643 (GRCm39)		probably null	Het
Dlg1	A	G	16: 31,606,953 (GRCm39)		probably null	Het
Dnah1	T	G	14: 31,008,855 (GRCm39)	E1973A	probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
E130308A19Rik	A	G	4: 59,691,017 (GRCm39)	T284A	probably benign	Het
Ecm1	C	T	3: 95,643,415 (GRCm39)	R295H	possibly damaging	Het
Efcab5	T	A	11: 77,029,055 (GRCm39)	H92L	probably damaging	Het
Egfr	C	A	11: 16,809,029 (GRCm39)	Y74*	probably null	Het
Fbxo10	T	C	4: 45,040,692 (GRCm39)	I838V	probably benign	Het
Gfod2	C	T	8: 106,454,643 (GRCm39)	R79Q	probably damaging	Het
Gm11568	C	A	11: 99,749,274 (GRCm39)	P160T	unknown	Het
Gm29106	A	T	1: 118,126,950 (GRCm39)	D214V	probably benign	Het
Htr3b	C	A	9: 48,847,241 (GRCm39)	V425F	possibly damaging	Het
Krt86	A	T	15: 101,375,146 (GRCm39)	E347V	probably damaging	Het
Lamc2	T	C	1: 153,012,551 (GRCm39)	I708V	probably benign	Het
Ldb2	T	A	5: 44,637,645 (GRCm39)	K221I	probably damaging	Het
Lmntd2	A	C	7: 140,793,190 (GRCm39)	S127R	probably benign	Het
Lrba	A	G	3: 86,234,743 (GRCm39)		probably null	Het
Mettl26	T	A	17: 26,095,750 (GRCm39)	*202R	probably null	Het
Mmp24	A	G	2: 155,656,016 (GRCm39)	K485E	probably damaging	Het
Nap1l1	T	C	10: 111,325,944 (GRCm39)	C88R	probably benign	Het
Or2d2	C	A	7: 106,728,234 (GRCm39)	R122L	probably damaging	Het
Or8b49	T	A	9: 38,505,658 (GRCm39)	I47N	possibly damaging	Het
Pafah1b1	T	G	11: 74,576,814 (GRCm39)	D159A	probably damaging	Het
Pcdhga7	T	C	18: 37,848,698 (GRCm39)	V235A	probably benign	Het
Pcf11	T	C	7: 92,311,110 (GRCm39)	T293A	probably benign	Het
Pidd1	A	C	7: 141,018,504 (GRCm39)	*916E	probably null	Het
Pip4k2c	T	C	10: 127,035,244 (GRCm39)	I375V	probably benign	Het
Rin3	A	T	12: 102,334,821 (GRCm39)	D164V	unknown	Het
Rnf8	T	C	17: 29,845,834 (GRCm39)	S199P	possibly damaging	Het
Serpina6	A	G	12: 103,620,195 (GRCm39)	S185P	probably benign	Het
Slc47a2	C	A	11: 61,193,059 (GRCm39)	V565L	probably benign	Het
Slfn4	T	A	11: 83,078,033 (GRCm39)	F274I	probably damaging	Het
Tgif1	T	C	17: 71,151,867 (GRCm39)	Y248C	probably benign	Het
Tlx1	C	A	19: 45,139,421 (GRCm39)	Q23K	possibly damaging	Het
Trpv4	T	C	5: 114,760,793 (GRCm39)	D846G	probably benign	Het
Tspyl1	G	A	10: 34,158,334 (GRCm39)	D20N	probably benign	Het
Vmn1r159	A	T	7: 22,542,959 (GRCm39)	F24L	probably damaging	Het
Vmn1r204	T	A	13: 22,741,230 (GRCm39)	V287D	probably damaging	Het
Zdhhc18	A	G	4: 133,340,228 (GRCm39)		probably null	Het
Zfp276	T	G	8: 123,994,646 (GRCm39)	V571G	probably damaging	Het

Other mutations in Pou3f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02325:Pou3f2	APN	4	22,487,020 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Pou3f2	UTSW	4	22,487,291 (GRCm39)	missense	possibly damaging	0.59
R0141:Pou3f2	UTSW	4	22,487,210 (GRCm39)	missense	possibly damaging	0.91
R0739:Pou3f2	UTSW	4	22,486,960 (GRCm39)	missense	possibly damaging	0.88
R1054:Pou3f2	UTSW	4	22,487,536 (GRCm39)	missense	possibly damaging	0.85
R1163:Pou3f2	UTSW	4	22,487,697 (GRCm39)	small deletion	probably benign
R1351:Pou3f2	UTSW	4	22,487,162 (GRCm39)	missense	probably damaging	0.99
R1482:Pou3f2	UTSW	4	22,486,960 (GRCm39)	missense	possibly damaging	0.83
R1708:Pou3f2	UTSW	4	22,487,255 (GRCm39)	missense	possibly damaging	0.85
R1865:Pou3f2	UTSW	4	22,486,917 (GRCm39)	nonsense	probably null
R1918:Pou3f2	UTSW	4	22,487,119 (GRCm39)	missense	probably damaging	0.98
R1919:Pou3f2	UTSW	4	22,487,119 (GRCm39)	missense	probably damaging	0.98
R2071:Pou3f2	UTSW	4	22,488,076 (GRCm39)	missense	probably benign	0.07
R5210:Pou3f2	UTSW	4	22,487,324 (GRCm39)	missense	probably damaging	1.00
R6174:Pou3f2	UTSW	4	22,486,960 (GRCm39)	missense	possibly damaging	0.88
R7134:Pou3f2	UTSW	4	22,486,874 (GRCm39)	missense	probably benign	0.00
R7197:Pou3f2	UTSW	4	22,487,288 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AATTGCTTGGCGAACTGC -3'
(R):5'- TAGGCCAGCCGGACATCAAG -3'

Sequencing Primer
(F):5'- AACTGCTCCAGGTCGTCTGAG -3'
(R):5'- ACATCAAGCCCTCGGTGGTG -3'

Posted On

2016-05-10