Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Pou2f2'

715637

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24790111-24879292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24794247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 373 (L373S)

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 damaging
Transcript: ENSMUST00000098679
AA Change: L395S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096276
Gene: ENSMUSG00000008496
AA Change: L395S

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

unknown
Transcript: ENSMUST00000108413
AA Change: L373S

SMART Domains

Protein: ENSMUSP00000104051
Gene: ENSMUSG00000008496
AA Change: L373S

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

possibly damaging
Transcript: ENSMUST00000108415
AA Change: L389S

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104053
Gene: ENSMUSG00000008496
AA Change: L389S

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
AA Change: L334S

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104054
Gene: ENSMUSG00000008496
AA Change: L334S

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

possibly damaging
Transcript: ENSMUST00000108417
AA Change: L395S

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104055
Gene: ENSMUSG00000008496
AA Change: L395S

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
AA Change: L373S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104056
Gene: ENSMUSG00000008496
AA Change: L373S

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
AA Change: L373S

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135075
Gene: ENSMUSG00000008496
AA Change: L373S

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

possibly damaging
Transcript: ENSMUST00000176408
AA Change: L389S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135326
Gene: ENSMUSG00000008496
AA Change: L389S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 78,903,565 (GRCm39)	K250N	probably damaging	Het
Adam5	A	T	8: 25,237,540 (GRCm39)	D623E	possibly damaging	Het
Akt3	T	C	1: 176,852,952 (GRCm39)	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,805,617 (GRCm39)	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,616,927 (GRCm39)	T908S	probably benign	Het
Clec7a	G	A	6: 129,440,126 (GRCm39)	Q160*	probably null	Het
Cntnap4	T	A	8: 113,460,103 (GRCm39)	I152N	probably damaging	Het
Ctdspl	C	T	9: 118,866,445 (GRCm39)	A179V	probably damaging	Het
Ddx43	T	C	9: 78,313,668 (GRCm39)	S200P	probably damaging	Het
Dip2c	A	G	13: 9,544,963 (GRCm39)	D84G	unknown	Het
Dmbt1	G	A	7: 130,675,987 (GRCm39)	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
E2f7	C	T	10: 110,603,050 (GRCm39)	T355I	probably damaging	Het
E2f7	C	A	10: 110,614,918 (GRCm39)	L541M	probably damaging	Het
Elovl5	T	A	9: 77,890,007 (GRCm39)	S273T	possibly damaging	Het
Emc1	T	A	4: 139,093,705 (GRCm39)	L605Q	probably damaging	Het
Fras1	T	A	5: 96,887,124 (GRCm39)	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,265,690 (GRCm39)	G195E	probably damaging	Het
Galm	A	G	17: 80,457,561 (GRCm39)	D199G	possibly damaging	Het
Galntl6	T	G	8: 58,230,359 (GRCm39)	S20R	probably damaging	Het
Grb14	T	G	2: 64,768,744 (GRCm39)	Y189S	probably damaging	Het
Hk2	T	A	6: 82,705,895 (GRCm39)	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,506,471 (GRCm39)	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,796,403 (GRCm39)	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,276,639 (GRCm39)	K68N	possibly damaging	Het
Inhba	A	C	13: 16,192,263 (GRCm39)	E128A	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Klhl3	G	A	13: 58,167,273 (GRCm39)	P364S	probably damaging	Het
Lhpp	T	C	7: 132,243,312 (GRCm39)	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Lrp3	A	G	7: 34,903,489 (GRCm39)	F286L	probably damaging	Het
Lrrc7	T	C	3: 157,841,028 (GRCm39)	T1337A	probably benign	Het
Magi2	A	G	5: 20,400,019 (GRCm39)	D17G	probably benign	Het
Map3k21	T	C	8: 126,650,903 (GRCm39)	S302P	probably damaging	Het
Matcap2	T	C	9: 22,343,015 (GRCm39)	M303T	probably damaging	Het
Mbtd1	A	G	11: 93,816,511 (GRCm39)	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,916,820 (GRCm39)	D306E	possibly damaging	Het
Muc20	T	C	16: 32,614,453 (GRCm39)	E308G	probably damaging	Het
Myh13	G	A	11: 67,255,712 (GRCm39)	S34N		Het
Nebl	C	A	2: 17,374,421 (GRCm39)	G894*	probably null	Het
Nelfa	A	G	5: 34,056,095 (GRCm39)	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,341,076 (GRCm39)	D13G	probably benign	Het
Ninl	A	T	2: 150,782,726 (GRCm39)	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,068,626 (GRCm39)	V176M	possibly damaging	Het
Nobox	G	A	6: 43,284,115 (GRCm39)	R144C	probably damaging	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or4a81	A	C	2: 89,619,506 (GRCm39)	Y63*	probably null	Het
Or52z15	A	T	7: 103,332,477 (GRCm39)	Y184F	probably damaging	Het
Or5w20	T	C	2: 87,726,693 (GRCm39)	M50T	probably benign	Het
Or6z1	A	G	7: 6,505,150 (GRCm39)	L25P	probably benign	Het
Or7c70	T	C	10: 78,682,891 (GRCm39)	N286S	probably damaging	Het
Or8h9	A	G	2: 86,789,757 (GRCm39)	M15T	probably benign	Het
Orai1	A	G	5: 123,167,301 (GRCm39)	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,398,967 (GRCm39)	V121L	probably benign	Het
Pclo	T	C	5: 14,571,250 (GRCm39)	S212P	possibly damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Plg	A	G	17: 12,622,024 (GRCm39)	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,116,866 (GRCm39)	N330K	probably damaging	Het
Rnpep	A	G	1: 135,211,341 (GRCm39)	F136L	probably benign	Het
Rp1	A	G	1: 4,162,838 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 75,986,238 (GRCm39)		probably benign	Het
Slc5a5	T	C	8: 71,337,596 (GRCm39)	D574G	probably benign	Het
Slc7a15	T	A	12: 8,588,794 (GRCm39)	N251I	probably damaging	Het
Speer4a3	A	T	5: 26,158,136 (GRCm39)	I72N	probably damaging	Het
Susd4	T	C	1: 182,719,665 (GRCm39)	S427P	probably benign	Het
Tarbp1	T	A	8: 127,155,779 (GRCm39)	T1320S	probably benign	Het
Tbpl2	C	T	2: 23,984,650 (GRCm39)	V166I	probably benign	Het
Thbs1	T	C	2: 117,950,518 (GRCm39)		probably null	Het
Tnfsf13b	A	G	8: 10,081,648 (GRCm39)	Y270C	probably damaging	Het
Vps11	G	T	9: 44,260,290 (GRCm39)	C857*	probably null	Het
Vsig10	G	A	5: 117,463,104 (GRCm39)	R110H	probably benign	Het
Wee2	T	A	6: 40,432,044 (GRCm39)	Y204*	probably null	Het
Zfpm2	T	A	15: 40,966,867 (GRCm39)	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,234,472 (GRCm39)	N166S	probably benign	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
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
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'- TGACTAGAGGCTGCTCTCTG -3'
(R):5'- AGAGAATCCATGGAGAACTCTCTC -3'

Sequencing Primer
(F):5'- AGAGGCTGCTCTCTGCTCTG -3'
(R):5'- GAGAACTCTCTCAGCTTCCTG -3'

Posted On

2022-06-15