Mutagenetix > Incidental Mutation

Incidental Mutation 'D3080:Pou2f2'

121

Institutional Source

Beutler Lab

Gene Symbol

Pou2f2

Ensembl Gene

ENSMUSG00000008496

Gene Name

POU domain, class 2, transcription factor 2

Synonyms

Oct-2, Otf2, Oct2c, Oct2d, Otf-2, Oct2a, Oct2b

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

D3080 of strain grasshopper

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24790111-24879292 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 24796558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098679] [ENSMUST00000108413] [ENSMUST00000108415] [ENSMUST00000108416] [ENSMUST00000108417] [ENSMUST00000108418] [ENSMUST00000147146] [ENSMUST00000176408] [ENSMUST00000175774]

AlphaFold

Q00196

Predicted Effect

probably benign
Transcript: ENSMUST00000098679

SMART Domains

Protein: ENSMUSP00000096276
Gene: ENSMUSG00000008496

Domain	Start	End	E-Value	Type
low complexity region	95	114	N/A	INTRINSIC
low complexity region	126	137	N/A	INTRINSIC
low complexity region	142	158	N/A	INTRINSIC
POU	201	275	7.65e-52	SMART
low complexity region	281	294	N/A	INTRINSIC
HOX	303	365	3.8e-18	SMART
low complexity region	392	416	N/A	INTRINSIC
low complexity region	422	432	N/A	INTRINSIC
low complexity region	433	456	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108413

SMART Domains

Protein: ENSMUSP00000104051
Gene: ENSMUSG00000008496

Domain	Start	End	E-Value	Type
low complexity region	73	92	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	120	136	N/A	INTRINSIC
POU	179	253	7.65e-52	SMART
low complexity region	259	272	N/A	INTRINSIC
HOX	281	343	3.8e-18	SMART
low complexity region	373	400	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108415

SMART Domains

Protein: ENSMUSP00000104053
Gene: ENSMUSG00000008496

Domain	Start	End	E-Value	Type
low complexity region	73	92	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	120	136	N/A	INTRINSIC
POU	195	269	7.65e-52	SMART
low complexity region	275	288	N/A	INTRINSIC
HOX	297	359	3.8e-18	SMART
low complexity region	386	410	N/A	INTRINSIC
low complexity region	416	426	N/A	INTRINSIC
low complexity region	427	450	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108416

SMART Domains

Protein: ENSMUSP00000104054
Gene: ENSMUSG00000008496

Domain	Start	End	E-Value	Type
low complexity region	65	76	N/A	INTRINSIC
low complexity region	81	97	N/A	INTRINSIC
POU	140	214	7.65e-52	SMART
low complexity region	220	233	N/A	INTRINSIC
HOX	242	304	3.8e-18	SMART
low complexity region	331	355	N/A	INTRINSIC
low complexity region	361	371	N/A	INTRINSIC
low complexity region	372	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108417

SMART Domains

Protein: ENSMUSP00000104055
Gene: ENSMUSG00000008496

Domain	Start	End	E-Value	Type
low complexity region	95	114	N/A	INTRINSIC
low complexity region	126	137	N/A	INTRINSIC
low complexity region	142	158	N/A	INTRINSIC
POU	201	275	7.65e-52	SMART
low complexity region	281	294	N/A	INTRINSIC
HOX	303	365	3.8e-18	SMART
low complexity region	392	416	N/A	INTRINSIC
low complexity region	422	432	N/A	INTRINSIC
low complexity region	433	456	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108418

SMART Domains

Protein: ENSMUSP00000104056
Gene: ENSMUSG00000008496

Domain	Start	End	E-Value	Type
low complexity region	73	92	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	120	136	N/A	INTRINSIC
POU	179	253	7.65e-52	SMART
low complexity region	259	272	N/A	INTRINSIC
HOX	281	343	3.8e-18	SMART
low complexity region	370	394	N/A	INTRINSIC
low complexity region	400	410	N/A	INTRINSIC
low complexity region	411	434	N/A	INTRINSIC
low complexity region	490	509	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147146

SMART Domains

Protein: ENSMUSP00000118307
Gene: ENSMUSG00000008496

Domain	Start	End	E-Value	Type
low complexity region	39	58	N/A	INTRINSIC
SCOP:d1gkub1	89	123	2e-3	SMART
low complexity region	134	151	N/A	INTRINSIC
low complexity region	163	174	N/A	INTRINSIC
low complexity region	179	195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176408

SMART Domains

Protein: ENSMUSP00000135326
Gene: ENSMUSG00000008496

Domain	Start	End	E-Value	Type
low complexity region	73	92	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	120	136	N/A	INTRINSIC
POU	195	269	7.65e-52	SMART
low complexity region	275	288	N/A	INTRINSIC
HOX	297	359	3.8e-18	SMART
low complexity region	386	410	N/A	INTRINSIC
low complexity region	416	426	N/A	INTRINSIC
low complexity region	427	450	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175774

SMART Domains

Protein: ENSMUSP00000135075
Gene: ENSMUSG00000008496

Domain	Start	End	E-Value	Type
low complexity region	73	92	N/A	INTRINSIC
low complexity region	104	115	N/A	INTRINSIC
low complexity region	120	136	N/A	INTRINSIC
POU	179	253	7.65e-52	SMART
low complexity region	259	272	N/A	INTRINSIC
HOX	281	343	3.8e-18	SMART
low complexity region	370	394	N/A	INTRINSIC
low complexity region	400	410	N/A	INTRINSIC
low complexity region	411	434	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184150

Coding Region Coverage

1x: 88.9%
3x: 76.7%

Validation Efficiency

82% (141/173)

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 homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous inactivation of this locus results in failed B cell maturation and death within hours of birth. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Gene trapped(2)

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	C	A	5: 88,119,846 (GRCm39)	P201Q	possibly damaging	Het
Bdp1	A	T	13: 100,160,129 (GRCm39)	S2417R	probably benign	Het
Ccdc168	C	A	1: 44,106,495 (GRCm39)			Het
Dscaml1	A	T	9: 45,595,623 (GRCm39)	H783L	probably benign	Het
Fbxl5	A	T	5: 43,915,708 (GRCm39)	M568K	probably benign	Het
Gab1	T	A	8: 81,493,007 (GRCm39)	D710V	probably damaging	Homo
Gabrr2	T	C	4: 33,084,466 (GRCm39)	F128S	probably damaging	Het
Hyou1	T	A	9: 44,295,774 (GRCm39)	V343E	probably damaging	Het
Nlrp4a	A	G	7: 26,143,766 (GRCm39)	T44A	probably benign	Het
Nsd3	C	A	8: 26,203,572 (GRCm39)	T1362N	possibly damaging	Homo
Or6f2	G	A	7: 139,756,275 (GRCm39)	V81M	possibly damaging	Het
Pcm1	T	A	8: 41,728,976 (GRCm39)	N649K	probably damaging	Homo
Pde4dip	T	C	3: 97,674,146 (GRCm39)	K257E	probably damaging	Het
Pfpl	G	A	19: 12,406,196 (GRCm39)	R149Q	probably damaging	Homo
Rptn	A	G	3: 93,303,135 (GRCm39)	D156G	possibly damaging	Het
Sec31a	T	C	5: 100,511,691 (GRCm39)	D1107G	probably damaging	Het
Smyd3	A	G	1: 178,913,987 (GRCm39)	Y239H	probably damaging	Het
Stoml3	T	C	3: 53,405,415 (GRCm39)	F32S	probably benign	Het
Tnnc1	C	A	14: 30,932,147 (GRCm39)	D62E	probably damaging	Homo
Vsig10	C	T	5: 117,481,884 (GRCm39)	A358V	probably damaging	Het

Other mutations in Pou2f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Pou2f2	APN	7	24,792,125 (GRCm39)	nonsense	probably null
IGL01420:Pou2f2	APN	7	24,792,377 (GRCm39)	missense	possibly damaging	0.79
IGL02219:Pou2f2	APN	7	24,797,107 (GRCm39)	missense	probably damaging	1.00
IGL03038:Pou2f2	APN	7	24,796,577 (GRCm39)	missense	probably damaging	1.00
IGL03173:Pou2f2	APN	7	24,799,371 (GRCm39)	splice site	probably benign
R0347:Pou2f2	UTSW	7	24,797,126 (GRCm39)	missense	probably damaging	1.00
R0385:Pou2f2	UTSW	7	24,815,501 (GRCm39)	nonsense	probably null
R0842:Pou2f2	UTSW	7	24,796,355 (GRCm39)	missense	probably damaging	1.00
R1665:Pou2f2	UTSW	7	24,792,149 (GRCm39)	missense	possibly damaging	0.66
R1914:Pou2f2	UTSW	7	24,799,581 (GRCm39)	missense	possibly damaging	0.71
R1915:Pou2f2	UTSW	7	24,799,581 (GRCm39)	missense	possibly damaging	0.71
R4076:Pou2f2	UTSW	7	24,796,713 (GRCm39)	missense	probably damaging	0.98
R4811:Pou2f2	UTSW	7	24,797,111 (GRCm39)	nonsense	probably null
R4863:Pou2f2	UTSW	7	24,796,533 (GRCm39)	intron	probably benign
R5362:Pou2f2	UTSW	7	24,792,320 (GRCm39)	missense	probably benign	0.02
R5995:Pou2f2	UTSW	7	24,796,869 (GRCm39)	missense	probably damaging	1.00
R6605:Pou2f2	UTSW	7	24,793,006 (GRCm39)	missense	probably damaging	0.96
R7541:Pou2f2	UTSW	7	24,815,553 (GRCm39)	missense	probably benign	0.02
R7884:Pou2f2	UTSW	7	24,815,489 (GRCm39)	missense	probably benign	0.39
R8123:Pou2f2	UTSW	7	24,796,433 (GRCm39)	missense	possibly damaging	0.83
R8416:Pou2f2	UTSW	7	24,815,551 (GRCm39)	nonsense	probably null
R8499:Pou2f2	UTSW	7	24,799,623 (GRCm39)	missense	probably damaging	1.00
R8554:Pou2f2	UTSW	7	24,814,981 (GRCm39)	intron	probably benign
R9122:Pou2f2	UTSW	7	24,792,302 (GRCm39)	missense	probably benign
R9341:Pou2f2	UTSW	7	24,794,277 (GRCm39)	missense	possibly damaging	0.88
R9343:Pou2f2	UTSW	7	24,794,277 (GRCm39)	missense	possibly damaging	0.88
R9474:Pou2f2	UTSW	7	24,794,247 (GRCm39)	missense	probably benign	0.02
R9576:Pou2f2	UTSW	7	24,796,569 (GRCm39)	missense	probably benign	0.28
R9578:Pou2f2	UTSW	7	24,796,569 (GRCm39)	missense	probably benign	0.28
RF014:Pou2f2	UTSW	7	24,815,162 (GRCm39)	missense	unknown
Z1177:Pou2f2	UTSW	7	24,792,601 (GRCm39)	missense	probably benign

Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to A transversion at base pair 25882152 in the Genbank genomic region NC_000073 for the Pou2f2 gene on chromosome 7 (GTGAGTTTCT->GTGAGTTTAT). Multiple transcripts of the Pou2f2 gene are displayed on Ensembl. The mutation is located within intron 10 from the ATG exon of the transcript that encodes isoform 1, nine nucleotides from the previous exon. The Pou2f2 transcript contains up to 15 total exons. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Pou2f2 gene encodes several different isoforms. The major isoform contains 463 amino acids and is commonly known as OCT2. OCT2 is a POU-domain containing transcription factor that regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression. OCT2 expression is highest in B cells. The various isoforms exhibit slightly different expression patterns and function. The POU domain occurs at amino acids 179-253. A homeobox domain occurs at residues 281-340 and a leucine zipper at residues 373-394 (Uniprot Q00196). Homozygous inactivation of this locus results in failed B cell maturation and death within hours of birth.

Posted On

2010-03-12