Mutagenetix > Incidental Mutation

Incidental Mutation 'R0141:Pou3f2'

22307

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

038426-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0141 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

22482780-22488366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22487210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 308 (T308A)

Ref Sequence

ENSEMBL: ENSMUSP00000136147 (fasta)

Gene Model

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

AlphaFold

P31360

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178174
AA Change: T308A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136147
Gene: ENSMUSG00000095139
AA Change: T308A

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

0.6050

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 89.9%

Validation Efficiency

88% (50/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	C	13: 91,919,947 (GRCm39)	D294A	probably benign	Het
Adamts9	T	C	6: 92,920,066 (GRCm39)	D24G	probably benign	Het
Ahnak	G	A	19: 8,984,044 (GRCm39)	G1776D	probably damaging	Het
Arfgef3	C	A	10: 18,473,155 (GRCm39)	C1636F	probably damaging	Het
AW551984	A	G	9: 39,501,940 (GRCm39)	L722P	probably damaging	Het
Ccndbp1	T	A	2: 120,842,903 (GRCm39)	M188K	probably damaging	Het
Col27a1	A	T	4: 63,183,870 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,616,095 (GRCm39)	Y306H	probably damaging	Het
Cyp3a57	A	G	5: 145,298,912 (GRCm39)	I71V	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dmrt2	A	T	19: 25,655,655 (GRCm39)	Q418L	possibly damaging	Het
Ebf1	T	C	11: 44,798,827 (GRCm39)	L284S	probably damaging	Het
Fam131a	G	A	16: 20,517,738 (GRCm39)	A15T	probably benign	Het
Fbxo17	A	G	7: 28,432,916 (GRCm39)	T146A	possibly damaging	Het
Fer1l6	A	G	15: 58,430,251 (GRCm39)	E226G	probably damaging	Het
Galnt18	A	T	7: 111,198,238 (GRCm39)	I174N	probably damaging	Het
Gm44501	T	C	17: 40,889,744 (GRCm39)	I86T	probably benign	Het
Gtsf1l	T	C	2: 162,929,246 (GRCm39)	Q79R	probably benign	Het
Hapln4	T	C	8: 70,540,930 (GRCm39)	L321P	probably damaging	Het
Herc2	A	G	7: 55,771,309 (GRCm39)	T1024A	probably benign	Het
Hps5	A	G	7: 46,438,605 (GRCm39)	S43P	probably damaging	Het
Igsf10	A	G	3: 59,238,253 (GRCm39)	Y643H	probably damaging	Het
Lama4	G	A	10: 38,968,274 (GRCm39)	R1472H	probably benign	Het
Lhx9	A	G	1: 138,767,744 (GRCm39)	Y73H	possibly damaging	Het
Loxl1	T	A	9: 58,219,415 (GRCm39)	Q252L	probably damaging	Het
Lrrc37	A	C	11: 103,504,512 (GRCm39)	I2485M	probably damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nr3c2	T	A	8: 77,635,037 (GRCm39)	V46D	probably damaging	Het
Or11h4	T	C	14: 50,973,840 (GRCm39)	S260G	possibly damaging	Het
Or4k77	T	A	2: 111,199,835 (GRCm39)	I286N	probably damaging	Het
Or5i1	C	G	2: 87,613,049 (GRCm39)	P55R	possibly damaging	Het
Or5p63	A	C	7: 107,811,210 (GRCm39)	N175K	possibly damaging	Het
Or5p70	A	T	7: 107,994,575 (GRCm39)	N83Y	probably benign	Het
Osbp	T	C	19: 11,951,223 (GRCm39)	V256A	possibly damaging	Het
Pclo	A	T	5: 14,841,936 (GRCm39)	D4737V	unknown	Het
Pkdrej	A	G	15: 85,699,831 (GRCm39)	I2035T	probably damaging	Het
Plek2	A	G	12: 78,941,278 (GRCm39)	S185P	probably damaging	Het
Pnpla6	G	T	8: 3,582,117 (GRCm39)		probably null	Het
Pramel22	T	C	4: 143,381,138 (GRCm39)	Y295C	probably benign	Het
Pxmp4	A	G	2: 154,434,215 (GRCm39)	V82A	probably damaging	Het
Rnf6	A	T	5: 146,148,645 (GRCm39)	N135K	possibly damaging	Het
Rtl1	A	G	12: 109,559,382 (GRCm39)	V819A	probably damaging	Het
Scn1a	C	A	2: 66,119,406 (GRCm39)	V1355L	probably damaging	Het
Scn2a	T	A	2: 65,542,160 (GRCm39)	N754K	probably benign	Het
Serpina3b	A	T	12: 104,097,030 (GRCm39)	N104Y	probably damaging	Het
Sh3rf2	T	C	18: 42,289,122 (GRCm39)	S648P	probably benign	Het
Slc17a6	G	A	7: 51,318,815 (GRCm39)	V486I	probably benign	Het
Spata31e2	A	T	1: 26,722,863 (GRCm39)	N772K	probably benign	Het
Syne2	T	G	12: 75,988,072 (GRCm39)	D1743E	probably damaging	Het
Tex14	T	G	11: 87,383,857 (GRCm39)		probably null	Het
Tfb1m	T	C	17: 3,605,232 (GRCm39)	D87G	probably damaging	Het
Tll2	C	T	19: 41,086,351 (GRCm39)	G609S	probably damaging	Het
Tsc22d2	A	T	3: 58,324,577 (GRCm39)		probably benign	Het
Tsen2	A	G	6: 115,545,790 (GRCm39)	D360G	probably damaging	Het
Ugt2b37	G	A	5: 87,388,842 (GRCm39)	P457L	probably damaging	Het
Vmn1r68	T	C	7: 10,261,252 (GRCm39)	N282S	possibly damaging	Het
Vmn2r58	G	A	7: 41,511,309 (GRCm39)	S498F	probably benign	Het
Zfp959	T	C	17: 56,205,139 (GRCm39)	I392T	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
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
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'- TTGACGCTCACCTCGATGG -3'
(R):5'- AGCTTCACGGTGAACGG -3'

Posted On

2013-04-16