Mutagenetix > Incidental Mutation

Incidental Mutation 'R1351:Pou3f2'

156641

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

039416-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1351 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22482780-22488366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22487162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 324 (C324S)

Ref Sequence

ENSEMBL: ENSMUSP00000136147 (fasta)

Gene Model

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

AlphaFold

P31360

Predicted Effect

probably damaging
Transcript: ENSMUST00000178174
AA Change: C324S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136147
Gene: ENSMUSG00000095139
AA Change: C324S

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

0.6365

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (51/51)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef26	A	G	3: 62,288,262 (GRCm39)	E444G	probably damaging	Het
Astl	G	A	2: 127,189,105 (GRCm39)	V144M	possibly damaging	Het
AW146154	A	T	7: 41,129,878 (GRCm39)	C413S	probably damaging	Het
Bicdl2	G	A	17: 23,886,519 (GRCm39)		probably benign	Het
Cacna1h	G	T	17: 25,610,925 (GRCm39)	S624R	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cep126	C	T	9: 8,100,087 (GRCm39)	E816K	probably damaging	Het
Cyp2j13	T	C	4: 95,945,155 (GRCm39)	K291R	probably benign	Het
Defb26	A	T	2: 152,349,737 (GRCm39)	M181K	unknown	Het
Dicer1	G	A	12: 104,695,401 (GRCm39)	R177C	probably damaging	Het
Eif4g2	A	G	7: 110,673,287 (GRCm39)	Y831H	probably damaging	Het
Ermap	C	T	4: 119,038,558 (GRCm39)		probably null	Het
Fcamr	C	T	1: 130,740,757 (GRCm39)	T392I	possibly damaging	Het
Fgf3	T	C	7: 144,394,517 (GRCm39)		probably benign	Het
Gpr162	T	C	6: 124,838,161 (GRCm39)	Y163C	probably damaging	Het
Gprc5d	T	C	6: 135,093,230 (GRCm39)	R226G	possibly damaging	Het
Hapln3	A	C	7: 78,771,708 (GRCm39)	S60R	probably damaging	Het
Hif1a	T	C	12: 73,987,235 (GRCm39)	S443P	probably benign	Het
Irf2bpl	A	G	12: 86,929,398 (GRCm39)	M425T	probably benign	Het
Lrrc39	G	T	3: 116,359,469 (GRCm39)	A5S	possibly damaging	Het
Mbtps1	A	G	8: 120,244,901 (GRCm39)	L850S	possibly damaging	Het
Mios	T	A	6: 8,228,120 (GRCm39)	M679K	possibly damaging	Het
Mocos	T	C	18: 24,793,107 (GRCm39)	F68S	probably damaging	Het
Nuf2	T	C	1: 169,338,118 (GRCm39)		probably benign	Het
Or51k1	A	G	7: 103,661,523 (GRCm39)	Y129H	possibly damaging	Het
Orc1	T	A	4: 108,452,564 (GRCm39)	D146E	probably benign	Het
Pcdhb22	T	C	18: 37,651,627 (GRCm39)	F32L	probably benign	Het
Pde4d	G	T	13: 110,087,809 (GRCm39)	E562D	possibly damaging	Het
Pgk2	T	C	17: 40,518,691 (GRCm39)	K246E	probably damaging	Het
Plekhh2	A	T	17: 84,884,574 (GRCm39)		probably benign	Het
Prkdc	C	T	16: 15,485,564 (GRCm39)	L464F	possibly damaging	Het
Prrc2a	T	C	17: 35,376,863 (GRCm39)	H749R	possibly damaging	Het
Rad18	T	C	6: 112,597,863 (GRCm39)	N218S	possibly damaging	Het
Rbm11	T	C	16: 75,393,531 (GRCm39)	Y76H	possibly damaging	Het
Rif1	T	G	2: 52,001,567 (GRCm39)	Y1674D	possibly damaging	Het
Rrp1b	A	G	17: 32,275,611 (GRCm39)	H386R	possibly damaging	Het
Sacs	T	C	14: 61,440,210 (GRCm39)	V752A	probably benign	Het
Sema3c	A	G	5: 17,883,334 (GRCm39)	D314G	possibly damaging	Het
Spata2l	G	A	8: 123,960,072 (GRCm39)	R406C	probably damaging	Het
Tacc2	C	T	7: 130,264,733 (GRCm39)		probably benign	Het
Tent4b	C	A	8: 88,927,002 (GRCm39)	Y137*	probably null	Het
Trpc4	A	G	3: 54,102,423 (GRCm39)	E107G	probably damaging	Het
Vmn2r70	A	G	7: 85,214,262 (GRCm39)	S297P	probably damaging	Het
Xdh	A	G	17: 74,230,073 (GRCm39)	I286T	probably benign	Het
Zfp608	T	C	18: 55,031,463 (GRCm39)	T826A	probably benign	Het
Zfp646	T	A	7: 127,482,683 (GRCm39)	V1620E	probably benign	Het
Zfyve28	T	G	5: 34,389,549 (GRCm39)	D217A	probably damaging	Het
Zmym6	G	A	4: 127,016,798 (GRCm39)	G768R	probably benign	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
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
R4985:Pou3f2	UTSW	4	22,487,588 (GRCm39)	missense	probably benign	0.26
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'- GGGCATTTGAGGAAATGGCTCTCC -3'
(R):5'- TCTATTCGCAGCCGAGCTTCAC -3'

Sequencing Primer
(F):5'- TCCAGAGCCCCCTTGAC -3'
(R):5'- AGCTTCACGGTGAACGG -3'

Posted On

2014-02-11