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, Otf-2, Oct2a, Otf2, Oct2b

MMRRC Submission

Accession Numbers

Genbank: NM_001163554; MGI: 101897

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25087344-25179726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25094822 bp (GRCm38)

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: 79,067,731	K250N	probably damaging	Het
9530077C05Rik	T	C	9: 22,431,719	M303T	probably damaging	Het
Adam5	A	T	8: 24,747,524	D623E	possibly damaging	Het
Akt3	T	C	1: 177,025,386	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,755,617	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,911,166	T908S	probably benign	Het
Clec7a	G	A	6: 129,463,163	Q160*	probably null	Het
Cntnap4	T	A	8: 112,733,471	I152N	probably damaging	Het
Ctdspl	C	T	9: 119,037,377	A179V	probably damaging	Het
Ddx43	T	C	9: 78,406,386	S200P	probably damaging	Het
Dip2c	A	G	13: 9,494,927	D84G	unknown	Het
Dmbt1	G	A	7: 131,074,257	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
E2f7	C	T	10: 110,767,189	T355I	probably damaging	Het
E2f7	C	A	10: 110,779,057	L541M	probably damaging	Het
Elovl5	T	A	9: 77,982,725	S273T	possibly damaging	Het
Emc1	T	A	4: 139,366,394	L605Q	probably damaging	Het
Fras1	T	A	5: 96,739,265	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,108,347	G195E	probably damaging	Het
Galm	A	G	17: 80,150,132	D199G	possibly damaging	Het
Galntl6	T	G	8: 57,777,325	S20R	probably damaging	Het
Gm21671	A	T	5: 25,953,138	I72N	probably damaging	Het
Grb14	T	G	2: 64,938,400	Y189S	probably damaging	Het
Hk2	T	A	6: 82,728,914	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,630,720	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,659,895	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,233,424	K68N	possibly damaging	Het
Inhba	A	C	13: 16,017,678	E128A	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klhl3	G	A	13: 58,019,459	P364S	probably damaging	Het
Lhpp	T	C	7: 132,641,583	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Lrp3	A	G	7: 35,204,064	F286L	probably damaging	Het
Lrrc7	T	C	3: 158,135,391	T1337A	probably benign	Het
Magi2	A	G	5: 20,195,021	D17G	probably benign	Het
Map3k21	T	C	8: 125,924,164	S302P	probably damaging	Het
Mbtd1	A	G	11: 93,925,685	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,866,820	D306E	possibly damaging	Het
Muc20	T	C	16: 32,794,083	E308G	probably damaging	Het
Myh13	G	A	11: 67,364,886	S34N		Het
Nebl	C	A	2: 17,369,610	G894*	probably null	Het
Nelfa	A	G	5: 33,898,751	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,187,600	D13G	probably benign	Het
Ninl	A	T	2: 150,940,806	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,065,627	V176M	possibly damaging	Het
Nobox	G	A	6: 43,307,181	R144C	probably damaging	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1099	A	G	2: 86,959,413	M15T	probably benign	Het
Olfr1153	T	C	2: 87,896,349	M50T	probably benign	Het
Olfr1254	A	C	2: 89,789,162	Y63*	probably null	Het
Olfr1348	A	G	7: 6,502,151	L25P	probably benign	Het
Olfr1356	T	C	10: 78,847,057	N286S	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,270	Y184F	probably damaging	Het
Orai1	A	G	5: 123,029,238	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,563,098	V121L	probably benign	Het
Pclo	T	C	5: 14,521,236	S212P	possibly damaging	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Plg	A	G	17: 12,403,137	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,323,217	N330K	probably damaging	Het
Rnpep	A	G	1: 135,283,603	F136L	probably benign	Het
Rp1	A	G	1: 4,092,615		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 76,150,404		probably benign	Het
Slc5a5	T	C	8: 70,884,952	D574G	probably benign	Het
Slc7a15	T	A	12: 8,538,794	N251I	probably damaging	Het
Susd4	T	C	1: 182,892,100	S427P	probably benign	Het
Tarbp1	T	A	8: 126,429,040	T1320S	probably benign	Het
Tbpl2	C	T	2: 24,094,638	V166I	probably benign	Het
Thbs1	T	C	2: 118,120,037		probably null	Het
Tnfsf13b	A	G	8: 10,031,648	Y270C	probably damaging	Het
Vps11	G	T	9: 44,348,993	C857*	probably null	Het
Vsig10	G	A	5: 117,325,039	R110H	probably benign	Het
Wee2	T	A	6: 40,455,110	Y204*	probably null	Het
Zfpm2	T	A	15: 41,103,471	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,231,473	N166S	probably benign	Het

Other mutations in Pou2f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Pou2f2	APN	7	25092700	nonsense	probably null
IGL01420:Pou2f2	APN	7	25092952	missense	possibly damaging	0.79
IGL02219:Pou2f2	APN	7	25097682	missense	probably damaging	1.00
IGL03038:Pou2f2	APN	7	25097152	missense	probably damaging	1.00
IGL03173:Pou2f2	APN	7	25099946	splice site	probably benign
D3080:Pou2f2	UTSW	7	25097133	splice site	probably benign
R0347:Pou2f2	UTSW	7	25097701	missense	probably damaging	1.00
R0385:Pou2f2	UTSW	7	25116076	nonsense	probably null
R0842:Pou2f2	UTSW	7	25096930	missense	probably damaging	1.00
R1665:Pou2f2	UTSW	7	25092724	missense	possibly damaging	0.66
R1914:Pou2f2	UTSW	7	25100156	missense	possibly damaging	0.71
R1915:Pou2f2	UTSW	7	25100156	missense	possibly damaging	0.71
R4076:Pou2f2	UTSW	7	25097288	missense	probably damaging	0.98
R4811:Pou2f2	UTSW	7	25097686	nonsense	probably null
R4863:Pou2f2	UTSW	7	25097108	intron	probably benign
R5362:Pou2f2	UTSW	7	25092895	missense	probably benign	0.02
R5995:Pou2f2	UTSW	7	25097444	missense	probably damaging	1.00
R6605:Pou2f2	UTSW	7	25093581	missense	probably damaging	0.96
R7541:Pou2f2	UTSW	7	25116128	missense	probably benign	0.02
R7884:Pou2f2	UTSW	7	25116064	missense	probably benign	0.39
R8123:Pou2f2	UTSW	7	25097008	missense	possibly damaging	0.83
R8416:Pou2f2	UTSW	7	25116126	nonsense	probably null
R8499:Pou2f2	UTSW	7	25100198	missense	probably damaging	1.00
R8554:Pou2f2	UTSW	7	25115556	intron	probably benign
R9122:Pou2f2	UTSW	7	25092877	missense	probably benign
R9341:Pou2f2	UTSW	7	25094852	missense	possibly damaging	0.88
R9343:Pou2f2	UTSW	7	25094852	missense	possibly damaging	0.88
R9576:Pou2f2	UTSW	7	25097144	missense	probably benign	0.28
R9578:Pou2f2	UTSW	7	25097144	missense	probably benign	0.28
RF014:Pou2f2	UTSW	7	25115737	missense	unknown
Z1177:Pou2f2	UTSW	7	25093176	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