Mutagenetix > Incidental Mutation

Incidental Mutation 'R7084:Pou2f3'

549764

Institutional Source

Beutler Lab

Gene Symbol

Pou2f3

Ensembl Gene

ENSMUSG00000032015

Gene Name

POU domain, class 2, transcription factor 3

Synonyms

Otf-11, Epoc-1, Oct11, Skin, Skn-li, Skn-1a, Oct-11a, Skin-1a, Otf11

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43123939-43210369 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43128893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 367 (T367A)

Ref Sequence

ENSEMBL: ENSMUSP00000135115 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034513] [ENSMUST00000176636]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034513
AA Change: T355A

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015
AA Change: T355A

Domain	Start	End	E-Value	Type
low complexity region	107	122	N/A	INTRINSIC
low complexity region	150	162	N/A	INTRINSIC
POU	164	238	1.47e-53	SMART
low complexity region	239	256	N/A	INTRINSIC
HOX	262	324	8.39e-20	SMART
low complexity region	337	352	N/A	INTRINSIC
low complexity region	362	378	N/A	INTRINSIC
low complexity region	386	408	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176636
AA Change: T367A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015
AA Change: T367A

Domain	Start	End	E-Value	Type
low complexity region	119	134	N/A	INTRINSIC
low complexity region	162	174	N/A	INTRINSIC
POU	176	250	1.47e-53	SMART
low complexity region	251	268	N/A	INTRINSIC
HOX	274	336	8.39e-20	SMART
low complexity region	349	364	N/A	INTRINSIC
low complexity region	374	390	N/A	INTRINSIC
low complexity region	398	420	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213862

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for one null mutation exhibit defective keratinocyte differentiation, however the skin and coat appear normal. Mice homozygous for another null mutation display loss of sweet, umami and bitter taste perception and expansion of sour taste receptor cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,488,185	D8E	unknown	Het
4931440F15Rik	G	T	11: 29,825,009	H149Q	probably damaging	Het
Abca5	T	A	11: 110,301,545	I714L	probably benign	Het
Abce1	T	A	8: 79,699,414	S245C	probably benign	Het
Abcg1	T	A	17: 31,106,131	D310E	probably benign	Het
Adhfe1	T	A	1: 9,566,805	I394N	probably benign	Het
Apob	A	T	12: 8,009,591	D2691V	probably benign	Het
Arhgap18	A	G	10: 26,872,738	T340A	possibly damaging	Het
Arsb	A	T	13: 93,940,616	Q497L	probably benign	Het
Asic5	T	C	3: 82,012,011	I354T	probably benign	Het
Atp6v0a1	T	C	11: 101,034,042	C318R	probably damaging	Het
Cftr	T	C	6: 18,226,138	Y362H	probably benign	Het
Crip3	T	C	17: 46,430,790	Y113H	probably benign	Het
Dcaf4	AT	A	12: 83,537,797		probably null	Het
Dock10	T	A	1: 80,503,856	I475F		Het
Dqx1	T	A	6: 83,066,455	Y674N	probably damaging	Het
Dync2h1	G	T	9: 7,113,214	Q2437K	possibly damaging	Het
Ednra	A	T	8: 77,665,105	C385*	probably null	Het
Fam216a	G	A	5: 122,369,560	T68I	probably benign	Het
Fbxw22	A	G	9: 109,404,223	L14P	probably damaging	Het
Fkbp10	A	G	11: 100,421,303	I230V	possibly damaging	Het
Ggn	C	A	7: 29,172,998	A637E	probably damaging	Het
Gm156	C	A	6: 129,766,710	A204S	possibly damaging	Het
Hcrtr2	T	C	9: 76,230,660	D391G	probably benign	Het
Heatr5b	A	T	17: 78,810,563	V817D	possibly damaging	Het
Il1f10	G	A	2: 24,293,670	W120*	probably null	Het
Irf5	C	A	6: 29,535,877	R297S	probably damaging	Het
Jak2	A	G	19: 29,286,398	T438A	possibly damaging	Het
Jsrp1	T	C	10: 80,808,576	D332G	possibly damaging	Het
Kank4	A	T	4: 98,771,345	V832D	probably damaging	Het
Kcnip3	C	T	2: 127,510,936	S25N	probably benign	Het
Klk1b16	C	T	7: 44,139,486	H48Y	probably benign	Het
Krtap5-4	G	A	7: 142,303,872	C93Y	unknown	Het
Lacc1	T	A	14: 77,029,656	Q389L	probably benign	Het
Lin9	C	A	1: 180,688,096	T477K	probably benign	Het
Lpar2	A	T	8: 69,823,606	N15I	probably damaging	Het
Ltbp2	C	A	12: 84,868,685	C200F	probably damaging	Het
Mall	G	T	2: 127,708,873	H122Q	probably benign	Het
Mast3	T	C	8: 70,779,473	I1287V	probably benign	Het
Mindy4	T	C	6: 55,278,235	I566T	probably benign	Het
Mme	T	C	3: 63,328,217	Y195H	probably damaging	Het
Mpzl1	T	C	1: 165,604,698	T173A	probably benign	Het
Mri1	G	T	8: 84,251,079	T209N		Het
Myo1e	A	G	9: 70,337,801	I394V	probably damaging	Het
Nat14	T	C	7: 4,924,330	V167A	possibly damaging	Het
Nfasc	A	G	1: 132,570,509	Y1212H	unknown	Het
Nsun7	T	A	5: 66,295,421	L493Q	probably damaging	Het
Obsl1	A	T	1: 75,487,750	S1637R	probably benign	Het
Ocstamp	A	T	2: 165,398,037	Y76*	probably null	Het
Olfr1443	A	C	19: 12,680,834	H242P	probably damaging	Het
Olfr769	T	A	10: 129,111,547	K293*	probably null	Het
Olfr917	G	A	9: 38,665,269	R192C	probably benign	Het
Otog	T	A	7: 46,298,566	C145*	probably null	Het
Padi6	T	A	4: 140,741,558	K5*	probably null	Het
Pcdha5	T	A	18: 36,961,562	S375T	probably benign	Het
Pde10a	C	T	17: 8,941,162	P140S	probably benign	Het
Pgbd1	C	G	13: 21,423,130	C298S	possibly damaging	Het
Plch2	C	T	4: 154,986,991	G977D	probably benign	Het
Ppm1j	T	A	3: 104,784,960	Y352N	probably damaging	Het
Prkag2	T	C	5: 25,021,969	T97A	probably benign	Het
Rpl36a-ps1	T	A	14: 98,994,224	Y26F	probably benign	Het
Sctr	A	T	1: 120,063,271	N445Y	possibly damaging	Het
Serping1	C	T	2: 84,773,491	V69I	probably benign	Het
Slc8a2	T	A	7: 16,145,038	L483Q	probably benign	Het
Spag17	T	C	3: 99,939,270	F37L	probably benign	Het
Srrm2	T	A	17: 23,820,316	M1978K	probably damaging	Het
Tcp11	T	C	17: 28,067,021	Q540R	probably benign	Het
Thnsl1	G	T	2: 21,212,330	R298S	possibly damaging	Het
Tigd5	T	A	15: 75,910,381	Y197*	probably null	Het
Tmprss11g	A	T	5: 86,492,200	L203Q	probably damaging	Het
Trim35	T	A	14: 66,308,822	V346E	probably damaging	Het
Ttn	T	C	2: 76,768,364	I19402V	possibly damaging	Het
Ttn	C	T	2: 76,919,345	E3787K	probably benign	Het
Tut1	G	A	19: 8,965,414	V622I	probably benign	Het
Vmn1r2	A	G	4: 3,172,134	I18V	probably benign	Het
Zbbx	T	C	3: 75,139,546	N22S	possibly damaging	Het
Zfp169	A	C	13: 48,498,863	M26R	probably benign	Het
Zfp180	T	A	7: 24,105,261	H368Q	probably damaging	Het
Zfp638	T	A	6: 83,953,126	S770T	possibly damaging	Het
Znrf1	T	C	8: 111,537,142	M1T	probably null	Het

Other mutations in Pou2f3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Pou2f3	APN	9	43128893	missense	probably damaging	1.00
IGL00508:Pou2f3	APN	9	43139963	missense	probably benign	0.01
IGL00975:Pou2f3	APN	9	43137384	missense	probably benign
IGL01577:Pou2f3	APN	9	43146881	nonsense	probably null
IGL01871:Pou2f3	APN	9	43134473	splice site	probably benign
IGL02370:Pou2f3	APN	9	43137348	missense	probably damaging	1.00
IGL02674:Pou2f3	APN	9	43139333	missense	probably damaging	1.00
IGL02746:Pou2f3	APN	9	43146846	missense	probably benign	0.01
IGL02956:Pou2f3	APN	9	43142805	splice site	probably benign
IGL02962:Pou2f3	APN	9	43125089	utr 3 prime	probably benign
IGL03082:Pou2f3	APN	9	43146915	critical splice acceptor site	probably null
R0433:Pou2f3	UTSW	9	43127398	missense	probably benign	0.23
R0622:Pou2f3	UTSW	9	43125119	missense	probably damaging	1.00
R0926:Pou2f3	UTSW	9	43146901	missense	probably damaging	1.00
R1956:Pou2f3	UTSW	9	43145237	missense	probably benign
R4782:Pou2f3	UTSW	9	43139858	missense	probably damaging	0.97
R4877:Pou2f3	UTSW	9	43139323	missense	possibly damaging	0.58
R5070:Pou2f3	UTSW	9	43145281	missense	possibly damaging	0.52
R5910:Pou2f3	UTSW	9	43134474	splice site	probably null
R6280:Pou2f3	UTSW	9	43139339	missense	probably damaging	1.00
R6280:Pou2f3	UTSW	9	43139340	missense	probably damaging	1.00
R6465:Pou2f3	UTSW	9	43139867	missense	probably damaging	1.00
R7161:Pou2f3	UTSW	9	43139363	missense	probably damaging	1.00
R8036:Pou2f3	UTSW	9	43146908	missense	probably damaging	1.00
R8406:Pou2f3	UTSW	9	43139858	missense	probably damaging	0.97
R8912:Pou2f3	UTSW	9	43199039	missense	probably benign	0.00
R9224:Pou2f3	UTSW	9	43139399	missense	probably damaging	1.00
R9329:Pou2f3	UTSW	9	43128929	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGATACACCGAGGGAATCCTG -3'
(R):5'- ATTTTGGAGTAGGAGGTCATCAAG -3'

Sequencing Primer
(F):5'- TACACCGAGGGAATCCTGATTTAG -3'
(R):5'- TCAAGGAAGGCAGACTGCTCTC -3'

Posted On

2019-05-15