Mutagenetix > Incidental Mutation

Incidental Mutation 'R9224:Pou2f3'

699687

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9224 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43123939-43210369 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43139399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 222 (I222N)

Ref Sequence

ENSEMBL: ENSMUSP00000135115 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034513
AA Change: I210N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015
AA Change: I210N

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: I222N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015
AA Change: I222N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,100	S229L	possibly damaging	Het
Actc1	TGA	T	2: 114,049,229		probably null	Het
Actl9	G	A	17: 33,434,030	A355T	probably benign	Het
Adamts8	A	G	9: 30,942,892	Q19R	probably benign	Het
Akr1c14	A	T	13: 4,080,695	Y216F	possibly damaging	Het
Alms1	T	C	6: 85,621,788	C1199R	possibly damaging	Het
Apc2	T	C	10: 80,314,277	S1722P	probably damaging	Het
Arid1a	T	C	4: 133,681,856	E1395G	unknown	Het
Atp6v0e2	T	C	6: 48,539,256	V46A	possibly damaging	Het
Bcar3	A	G	3: 122,525,442	R743G	probably damaging	Het
Bhmt2	A	G	13: 93,669,346	V56A	probably damaging	Het
Bsn	C	A	9: 108,105,487	R917L		Het
Cabyr	T	G	18: 12,754,221	V303G	possibly damaging	Het
Carmil1	A	T	13: 24,108,529	I429N	probably damaging	Het
Ccdc27	T	C	4: 154,037,717	N235D	unknown	Het
Ccdc61	T	C	7: 18,903,821	M37V	probably benign	Het
Cd40	A	T	2: 165,056,796	I48F	unknown	Het
Cdk13	A	T	13: 17,766,486	S664R	probably damaging	Het
Cel	TTA	TTATA	2: 28,559,429		probably null	Het
Cfap46	T	A	7: 139,678,500	R286*	probably null	Het
Ckap2	A	C	8: 22,169,938	I509S	possibly damaging	Het
Clptm1l	A	T	13: 73,604,225		probably benign	Het
Col11a1	T	G	3: 114,208,280	M1591R	unknown	Het
Col6a5	C	A	9: 105,937,395	A473S	unknown	Het
Cxcr2	T	A	1: 74,158,597	D83E	probably damaging	Het
Cyp2c39	G	A	19: 39,538,888	C226Y	probably benign	Het
Ddr1	A	C	17: 35,689,717	F352C	probably damaging	Het
Defb22	T	A	2: 152,485,801	T155S	unknown	Het
Dennd4c	G	T	4: 86,819,933	E935*	probably null	Het
Dst	A	C	1: 34,291,798	E4889D	probably damaging	Het
Emilin1	T	A	5: 30,917,479	C355S	probably damaging	Het
Enpp3	C	T	10: 24,774,818	V807I	probably benign	Het
Fcnb	T	A	2: 28,079,148	D179V	probably damaging	Het
Ficd	T	A	5: 113,737,135	D88E	probably benign	Het
Fndc3b	T	C	3: 27,470,301	K437E	possibly damaging	Het
Fyb2	T	A	4: 104,995,908	W566R	probably benign	Het
Gm11639	A	G	11: 104,770,975	Q1314R	probably benign	Het
Gm14403	A	G	2: 177,508,543	Q94R	probably benign	Het
Gm14548	T	C	7: 3,897,235	T123A	probably benign	Het
Gm32687	T	A	10: 81,879,032	I86N	probably benign	Het
Gpam	T	G	19: 55,087,475	D235A	probably damaging	Het
Gstt4	T	C	10: 75,815,212	E192G	probably damaging	Het
H2-Q6	T	G	17: 35,425,333	V97G	probably benign	Het
Hcn1	G	A	13: 117,925,718	G507S	unknown	Het
Hydin	T	C	8: 110,532,884	I2496T	probably benign	Het
Jund	A	G	8: 70,699,215	D53G	probably damaging	Het
Kat6b	T	A	14: 21,669,963	M1461K	probably benign	Het
Lnx1	T	G	5: 74,606,149	K435Q	probably benign	Het
Lpcat1	C	A	13: 73,510,042	L316M	probably damaging	Het
Lrrtm3	ATTTT	ATTTTT	10: 64,089,256		probably null	Het
Ly6c1	T	A	15: 75,044,616	T126S	probably benign	Het
Macf1	A	G	4: 123,432,897	S4938P	probably damaging	Het
Map2k2	T	C	10: 81,118,174	V158A	possibly damaging	Het
Map3k4	A	G	17: 12,238,086	V1323A	probably damaging	Het
Map4k5	A	T	12: 69,892,693	V23E	possibly damaging	Het
Med30	T	G	15: 52,719,443	L92R	probably damaging	Het
Mroh8	C	T	2: 157,221,149	G851S	possibly damaging	Het
Msmb	T	A	14: 32,158,103	C83*	probably null	Het
Mtif2	A	T	11: 29,544,364	R655S	probably benign	Het
Myo10	C	T	15: 25,807,995	S1901L	probably benign	Het
Myom2	A	T	8: 15,128,804	I1279F	possibly damaging	Het
Nat9	T	C	11: 115,184,615	I67V	probably damaging	Het
Ncam1	A	G	9: 49,508,695	S774P	probably damaging	Het
Ndufaf6	T	C	4: 11,062,089	T181A	probably damaging	Het
Nlrp4f	T	A	13: 65,185,015	K110*	probably null	Het
Nlrp9b	T	C	7: 20,019,292	S41P	probably benign	Het
Nlrp9b	A	G	7: 20,023,551	T238A	probably benign	Het
Noxo1	A	T	17: 24,700,331	E342D	probably benign	Het
Nt5dc2	T	C	14: 31,135,708	M55T	probably benign	Het
Olfr1040	T	A	2: 86,145,876	N286I	probably damaging	Het
Olfr342	A	T	2: 36,527,826	Q138L	probably benign	Het
Olfr453	T	C	6: 42,744,970	F311S	probably benign	Het
Olfr466	C	T	13: 65,152,389	T55I	probably damaging	Het
Olfr700	T	C	7: 106,806,282	Y60C	probably damaging	Het
Olfr782	T	A	10: 129,350,581	M6K	probably benign	Het
Olfr800	C	A	10: 129,660,138	L111M	probably damaging	Het
Olfr92	T	C	17: 37,111,875	T36A	possibly damaging	Het
P4ha2	C	T	11: 54,119,137	P240L	possibly damaging	Het
Pcdha11	T	A	18: 37,006,020	L234Q	probably damaging	Het
Pgm3	C	T	9: 86,556,362	A457T	probably benign	Het
Pkp4	T	C	2: 59,314,394	V533A	probably benign	Het
Plac8l1	T	C	18: 42,192,637	T68A	possibly damaging	Het
Ppp1r14d	T	C	2: 119,229,741	D20G	probably benign	Het
Ppp1r37	C	A	7: 19,531,804	G679V	probably damaging	Het
Ppp6r2	T	A	15: 89,262,396	I199N	probably damaging	Het
Prune2	A	G	19: 17,120,029	T966A	probably damaging	Het
Ptdss2	T	C	7: 141,154,885	V375A	probably benign	Het
Rara	TGCCCCGC	TGCCCCGCCCCGC	11: 98,966,410		probably null	Het
Rin2	T	A	2: 145,878,902	C718*	probably null	Het
Rptor	C	T	11: 119,894,287	T1170I	probably benign	Het
Samd5	T	C	10: 9,674,515	Y150C	probably damaging	Het
Setd1b	T	C	5: 123,158,710	S1245P	unknown	Het
Sipa1l2	T	C	8: 125,491,977	E207G	probably damaging	Het
Slc29a1	C	A	17: 45,586,227	V378L	probably damaging	Het
Slc2a12	T	G	10: 22,665,362	I372S	possibly damaging	Het
Slc7a10	T	A	7: 35,195,214	Y99*	probably null	Het
Smco3	A	G	6: 136,831,519	V119A	probably damaging	Het
Sptlc3	C	T	2: 139,494,234	T10I	probably benign	Het
Sri	T	A	5: 8,063,323	W105R	probably damaging	Het
Stk35	T	C	2: 129,810,571	Y331H	probably damaging	Het
Tipin	T	C	9: 64,288,148	I12T	probably benign	Het
Tlr5	A	G	1: 182,975,128	T666A	probably benign	Het
Tmprss11g	C	A	5: 86,492,144	V222L	probably benign	Het
Tnfrsf11b	T	A	15: 54,252,160	Y347F	possibly damaging	Het
Traf6	A	G	2: 101,697,167	T421A	probably benign	Het
Trrap	T	A	5: 144,771,239	D30E	possibly damaging	Het
Ube2k	T	A	5: 65,594,504	Y162N	probably damaging	Het
Uck2	A	T	1: 167,237,602	V49E	probably damaging	Het
Vcam1	A	T	3: 116,110,943	Y718*	probably null	Het
Zan	T	C	5: 137,474,007	N159S	probably damaging	Het
Zfp438	A	G	18: 5,210,788	L750P	probably damaging	Het
Zfp54	A	T	17: 21,433,775	Y177F	probably benign	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
R7084:Pou2f3	UTSW	9	43128893	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
R9329:Pou2f3	UTSW	9	43128929	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTTCTTGGTTCGTGCCAG -3'
(R):5'- AAGATACAAGGCTGTGCGC -3'

Sequencing Primer
(F):5'- TTCGTGCCAGGCTGAAGAG -3'
(R):5'- TGTGCGCAGATGCTCAG -3'

Posted On

2022-02-07