Mutagenetix > Incidental Mutation

Incidental Mutation 'R1665:Pou2f2'

187107

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

039701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24790111-24879292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24792149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 569 (T569S)

Ref Sequence

ENSEMBL: ENSMUSP00000104056 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000108418
AA Change: T569S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104056
Gene: ENSMUSG00000008496
AA Change: T569S

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: 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

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

Meta Mutation Damage Score

0.1256

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (87/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Afg1l	T	A	10: 42,302,573 (GRCm39)	K142N	probably damaging	Het
Aldh1a7	T	C	19: 20,704,825 (GRCm39)	I18V	probably benign	Het
Angel2	T	C	1: 190,669,664 (GRCm39)	Y115H	probably damaging	Het
Bsg	T	G	10: 79,547,352 (GRCm39)	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,228,072 (GRCm39)	V83E	probably benign	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Ces2a	G	A	8: 105,464,187 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Csmd3	T	C	15: 47,560,185 (GRCm39)	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Dab2ip	T	A	2: 35,610,290 (GRCm39)	M770K	probably damaging	Het
Dct	T	A	14: 118,271,663 (GRCm39)	D389V	probably damaging	Het
Dnah17	A	T	11: 118,012,321 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Efcab3	A	G	11: 104,611,940 (GRCm39)	K594R	probably benign	Het
Ehmt1	A	G	2: 24,767,476 (GRCm39)	S272P	probably damaging	Het
Ero1b	T	C	13: 12,594,142 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Foxb1	G	A	9: 69,667,104 (GRCm39)	A142V	probably damaging	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
H1f7	G	T	15: 98,154,796 (GRCm39)	Q118K	probably benign	Het
Hdac7	A	G	15: 97,704,406 (GRCm39)	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Kpna6	T	A	4: 129,551,264 (GRCm39)	R80S	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Mfn1	T	G	3: 32,588,471 (GRCm39)	V66G	probably benign	Het
Mllt10	A	T	2: 18,213,601 (GRCm39)	Q459L	possibly damaging	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,024,045 (GRCm39)	W417R	probably damaging	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or13a26	G	T	7: 140,284,707 (GRCm39)	C181F	probably damaging	Het
Or4g16	T	C	2: 111,137,116 (GRCm39)	C189R	probably damaging	Het
Or4k39	T	C	2: 111,239,098 (GRCm39)	Y113H	probably damaging	Het
Or5b121	A	T	19: 13,507,202 (GRCm39)	H99L	probably damaging	Het
Or8c10	C	T	9: 38,278,862 (GRCm39)	H7Y	probably benign	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Pi15	G	T	1: 17,691,726 (GRCm39)	C176F	probably damaging	Het
Prf1	A	C	10: 61,138,666 (GRCm39)	E208A	probably benign	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ripk3	T	A	14: 56,023,808 (GRCm39)	H1L	probably benign	Het
Ryr1	C	T	7: 28,735,503 (GRCm39)	D4064N	probably damaging	Het
Sec63	T	A	10: 42,674,724 (GRCm39)		probably null	Het
Slco1a4	T	G	6: 141,785,303 (GRCm39)	M96L	possibly damaging	Het
Slit3	A	T	11: 35,125,733 (GRCm39)	R137S	possibly damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Steap1	A	T	5: 5,786,498 (GRCm39)	L313Q	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tm6sf2	G	T	8: 70,531,580 (GRCm39)		probably benign	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Ttn	C	A	2: 76,661,200 (GRCm39)		probably benign	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,163,505 (GRCm39)	M575V	unknown	Het
Zfp53	A	G	17: 21,729,766 (GRCm39)	T600A	probably damaging	Het
Zic5	A	G	14: 122,696,939 (GRCm39)	S559P	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- GCACTCCAAGATCTGGCTCAAGAC -3'
(R):5'- GATGTTCAACCTCAGCTCAGCCTC -3'

Sequencing Primer
(F):5'- gttgttgttgttgttgttttgttg -3'
(R):5'- TTACCAGCCTTGATGGCAG -3'

Posted On

2014-05-09