Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Pou2f2'

374651

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

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24790111-24879292 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 24796533 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

noncoding transcript
Transcript: ENSMUST00000184150

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Abcc12	T	A	8: 87,265,005 (GRCm39)	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172 (GRCm39)	W384L	probably damaging	Het
Acvr1	A	G	2: 58,367,723 (GRCm39)	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,789,127 (GRCm39)	M238K	probably benign	Het
Clmn	A	T	12: 104,763,353 (GRCm39)	I91N	probably damaging	Het
Cog8	A	T	8: 107,776,806 (GRCm39)	L523H	probably damaging	Het
Cpxm2	T	A	7: 131,661,476 (GRCm39)	K437M	probably benign	Het
Dhx57	A	T	17: 80,560,540 (GRCm39)	V999E	probably damaging	Het
Dnpep	T	C	1: 75,285,874 (GRCm39)		probably benign	Het
Dok3	G	A	13: 55,671,270 (GRCm39)	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,941,687 (GRCm39)	H275Y	probably benign	Het
Ednra	A	T	8: 78,394,012 (GRCm39)	N361K	probably damaging	Het
Ei24	A	T	9: 36,695,861 (GRCm39)	S210R	probably damaging	Het
Erich3	T	A	3: 154,470,441 (GRCm39)	V158E	unknown	Het
Fam193a	T	A	5: 34,623,549 (GRCm39)	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,699,654 (GRCm39)	V2304A	probably damaging	Het
Fcgbp	A	C	7: 27,785,769 (GRCm39)	D402A	probably benign	Het
Fkbp14	T	C	6: 54,562,930 (GRCm39)		probably benign	Het
Fnip1	G	A	11: 54,406,382 (GRCm39)	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,202,712 (GRCm39)	K289R	probably null	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,701,797 (GRCm39)	V116A	probably benign	Het
Gm10770	T	A	2: 150,020,816 (GRCm39)	K234*	probably null	Het
Gm9887	A	G	12: 69,418,763 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,316,577 (GRCm39)		probably benign	Het
H2-M10.3	T	C	17: 36,677,528 (GRCm39)	D250G	probably damaging	Het
Hapln4	G	A	8: 70,537,142 (GRCm39)	V26M	possibly damaging	Het
Hook3	G	A	8: 26,528,057 (GRCm39)	A611V	probably damaging	Het
Hr	T	C	14: 70,809,412 (GRCm39)	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,485,164 (GRCm39)	S388P	probably damaging	Het
Itga3	T	A	11: 94,952,793 (GRCm39)	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,556,346 (GRCm39)	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,486,403 (GRCm39)	S132P	probably damaging	Het
Lama3	C	T	18: 12,672,850 (GRCm39)	A2481V	probably damaging	Het
Lama3	T	C	18: 12,631,735 (GRCm39)		probably benign	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lmcd1	T	C	6: 112,264,832 (GRCm39)		probably benign	Het
Lrrc14	T	A	15: 76,597,562 (GRCm39)		probably null	Het
Lypd8l	A	T	11: 58,503,338 (GRCm39)		probably null	Het
Map4k5	G	A	12: 69,865,212 (GRCm39)	P591L	probably benign	Het
Mapk13	C	A	17: 28,995,284 (GRCm39)	D168E	probably damaging	Het
Marf1	A	C	16: 13,950,529 (GRCm39)	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,338,738 (GRCm39)		probably null	Het
Mical3	T	C	6: 121,010,748 (GRCm39)	I411M	probably damaging	Het
Myo5a	A	T	9: 75,124,789 (GRCm39)	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,965,473 (GRCm39)	V1174A	probably benign	Het
Ncdn	A	T	4: 126,644,216 (GRCm39)	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,283,464 (GRCm39)	M408L	possibly damaging	Het
Nf1	T	C	11: 79,300,235 (GRCm39)	L249P	probably damaging	Het
Nlrp9b	T	A	7: 19,783,521 (GRCm39)		probably null	Het
Nxpe3	A	T	16: 55,669,996 (GRCm39)	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,489,434 (GRCm39)	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,632,161 (GRCm39)	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,901,334 (GRCm39)	L722P	probably benign	Het
Pde6a	A	T	18: 61,378,663 (GRCm39)	I329F	probably damaging	Het
Pdpr	T	A	8: 111,828,583 (GRCm39)	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,491,123 (GRCm39)	D173G	probably benign	Het
Plcd4	A	G	1: 74,604,961 (GRCm39)		probably null	Het
Polr1g	T	A	7: 19,091,684 (GRCm39)	Q141L	probably damaging	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,316,702 (GRCm39)		probably benign	Het
Ppp1r42	T	C	1: 10,073,611 (GRCm39)		probably benign	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rab12	A	T	17: 66,805,103 (GRCm39)	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,556 (GRCm39)	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,328,243 (GRCm39)	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,132,765 (GRCm39)	K6*	probably null	Het
Rasgef1a	A	G	6: 118,066,100 (GRCm39)	M438V	probably benign	Het
Recql	T	G	6: 142,304,732 (GRCm39)		probably benign	Het
Rftn2	A	G	1: 55,211,198 (GRCm39)	V425A	probably benign	Het
Ror1	A	G	4: 100,267,001 (GRCm39)	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,696,880 (GRCm39)	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,210,828 (GRCm39)	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,827,488 (GRCm39)	I268R	probably damaging	Het
Sin3b	G	A	8: 73,471,576 (GRCm39)	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,719,649 (GRCm39)	M203T	possibly damaging	Het
Soat1	T	C	1: 156,259,898 (GRCm39)	N481S	probably damaging	Het
Sos2	G	A	12: 69,686,928 (GRCm39)	T206I	probably benign	Het
Sp100	G	T	1: 85,632,724 (GRCm39)	A132S	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spata31d1c	T	A	13: 65,183,604 (GRCm39)	L382*	probably null	Het
Stard9	T	A	2: 120,531,341 (GRCm39)	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,412,324 (GRCm39)	T286A	probably benign	Het
Tedc2	T	A	17: 24,436,910 (GRCm39)	K275M	probably damaging	Het
Ten1	A	T	11: 116,109,057 (GRCm39)	K242N	probably benign	Het
Thoc2l	A	T	5: 104,665,616 (GRCm39)	D46V	possibly damaging	Het
Tial1	C	T	7: 128,056,752 (GRCm39)	V1I	probably damaging	Het
Tle2	G	A	10: 81,424,725 (GRCm39)	R649H	possibly damaging	Het
Tmem178	A	G	17: 81,252,374 (GRCm39)	D86G	probably benign	Het
Trim29	T	A	9: 43,240,872 (GRCm39)	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 41,950,132 (GRCm39)	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,399,806 (GRCm39)	Q414H	possibly damaging	Het
Yars1	A	T	4: 129,083,675 (GRCm39)		probably benign	Het
Yipf4	A	G	17: 74,801,087 (GRCm39)	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,487,786 (GRCm39)		probably benign	Het
Zfp426	T	C	9: 20,381,334 (GRCm39)	Y536C	probably damaging	Het
Zp2	T	G	7: 119,734,995 (GRCm39)	Y430S	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
D3080:Pou2f2	UTSW	7	24,796,558 (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
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

Predicted Primers

PCR Primer
(F):5'- ACAGCCTTATGCCCTGACTC -3'
(R):5'- TGTCTGTGGATTCAAGCCTAC -3'

Sequencing Primer
(F):5'- ACATAGCCCCCTAGTTCTGGG -3'
(R):5'- TGTGGATTCAAGCCTACCCAGC -3'

Posted On

2016-03-17