Mutagenetix > Incidental Mutation

Incidental Mutation 'R9329:Pou2f3'

706731

Institutional Source

Beutler Lab

Gene Symbol

Pou2f3

Ensembl Gene

ENSMUSG00000032015

Gene Name

POU domain, class 2, transcription factor 3

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43035222-43117052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43040224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 355 (S355P)

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: S343P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015
AA Change: S343P

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: S355P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015
AA Change: S355P

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: 99.4%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	G	6: 83,133,556 (GRCm39)	M1R	probably null	Het
Acap2	T	C	16: 30,946,238 (GRCm39)	D235G	probably damaging	Het
Adgrv1	C	A	13: 81,647,241 (GRCm39)	V3100F	probably damaging	Het
Aff4	A	G	11: 53,288,686 (GRCm39)	T401A	probably damaging	Het
Apcs	T	C	1: 172,722,391 (GRCm39)	T22A	probably benign	Het
Atf7ip2	T	C	16: 10,059,738 (GRCm39)	V426A	possibly damaging	Het
Bach2	A	G	4: 32,562,175 (GRCm39)	D214G	possibly damaging	Het
Baz2a	C	T	10: 127,960,925 (GRCm39)	A1578V	possibly damaging	Het
Camk1d	T	C	2: 5,449,954 (GRCm39)	I76V	probably benign	Het
Ccdc182	A	T	11: 88,185,324 (GRCm39)	M135L	probably benign	Het
Cd47	C	T	16: 49,716,731 (GRCm39)	T201I		Het
Chodl	T	C	16: 78,746,030 (GRCm39)	S290P	possibly damaging	Het
Chst15	A	G	7: 131,868,520 (GRCm39)	L300P	possibly damaging	Het
Ciita	T	C	16: 10,324,571 (GRCm39)	S168P	probably damaging	Het
Cntn2	C	T	1: 132,456,678 (GRCm39)	V123I	probably benign	Het
Cyld	T	A	8: 89,457,348 (GRCm39)	L527Q	probably benign	Het
Dbn1	T	A	13: 55,631,241 (GRCm39)	Y34F	probably damaging	Het
Enc1	C	A	13: 97,383,018 (GRCm39)	Y509*	probably null	Het
Ermard	A	T	17: 15,273,643 (GRCm39)	E409D	probably benign	Het
Extl3	T	C	14: 65,314,765 (GRCm39)	E139G	possibly damaging	Het
Fa2h	A	T	8: 112,082,115 (GRCm39)	V177E	possibly damaging	Het
Flot2	T	C	11: 77,949,772 (GRCm39)	I367T	probably damaging	Het
Fras1	T	C	5: 96,884,813 (GRCm39)	Y2564H	probably damaging	Het
Fxyd3	A	G	7: 30,773,018 (GRCm39)	V10A	probably benign	Het
Gfra3	A	G	18: 34,837,560 (GRCm39)	L146P	probably damaging	Het
Gm49359	T	C	13: 62,602,448 (GRCm39)	N251D	probably benign	Het
Hps6	A	G	19: 45,992,542 (GRCm39)	S160G	probably benign	Het
Hsd17b7	C	A	1: 169,794,875 (GRCm39)	A55S	probably damaging	Het
Hspa12a	T	C	19: 58,789,298 (GRCm39)	D446G	probably benign	Het
Htt	G	A	5: 34,989,957 (GRCm39)	R1163Q	possibly damaging	Het
Ift81	T	C	5: 122,697,833 (GRCm39)		probably null	Het
Ighv5-15	T	G	12: 113,790,395 (GRCm39)	Y75S	probably benign	Het
Kcnd2	T	A	6: 21,725,981 (GRCm39)	H491Q	probably damaging	Het
Lamb3	C	A	1: 193,014,665 (GRCm39)	T608K	probably benign	Het
Lrtm2	T	A	6: 119,297,412 (GRCm39)	K210*	probably null	Het
Med13	G	T	11: 86,189,283 (GRCm39)	P1209T	probably benign	Het
Mtus1	G	A	8: 41,537,239 (GRCm39)	T159I	probably damaging	Het
Myt1l	A	G	12: 29,901,659 (GRCm39)	M805V	unknown	Het
Neb	G	T	2: 52,160,231 (GRCm39)	L2261I	probably benign	Het
Nlrp4c	G	A	7: 6,068,498 (GRCm39)	R133H	probably benign	Het
Nol11	A	T	11: 107,071,765 (GRCm39)	L276Q	probably damaging	Het
Nrap	A	G	19: 56,350,277 (GRCm39)	Y614H	probably damaging	Het
Or13c9	G	A	4: 52,936,211 (GRCm39)	T24M	probably damaging	Het
Or52p1	A	G	7: 104,267,705 (GRCm39)	H273R	probably damaging	Het
Ppm1l	C	A	3: 69,460,453 (GRCm39)	N343K	probably damaging	Het
Prh1	A	T	6: 132,548,573 (GRCm39)	I27F	unknown	Het
Prkrip1	A	T	5: 136,223,203 (GRCm39)	L85Q	probably damaging	Het
Pycr3	C	T	15: 75,790,563 (GRCm39)	V99I	probably benign	Het
R3hdm4	T	A	10: 79,749,393 (GRCm39)	N72I	probably damaging	Het
Rab11fip3	G	T	17: 26,231,032 (GRCm39)	H738N	probably benign	Het
Rtl1	G	A	12: 109,556,673 (GRCm39)	A1722V	possibly damaging	Het
Sell	A	G	1: 163,893,122 (GRCm39)	N113D	probably damaging	Het
Smarcal1	T	C	1: 72,665,697 (GRCm39)	S732P	probably damaging	Het
Smurf2	A	T	11: 106,743,424 (GRCm39)	D207E	probably benign	Het
Spata31h1	G	A	10: 82,121,439 (GRCm39)	S3857L	probably benign	Het
Tat	C	T	8: 110,723,510 (GRCm39)	R333C	probably benign	Het
Tmem121b	A	T	6: 120,469,234 (GRCm39)	F494L	probably damaging	Het
Tmem198	C	A	1: 75,456,522 (GRCm39)	P89Q	probably damaging	Het
Tnks2	T	G	19: 36,835,284 (GRCm39)	C2G	probably damaging	Het
Trappc9	T	C	15: 72,673,202 (GRCm39)	E869G	unknown	Het
Trim42	T	A	9: 97,251,584 (GRCm39)	K105M	probably benign	Het
Ttll3	T	C	6: 113,369,635 (GRCm39)	S60P	probably benign	Het
Ttll4	T	A	1: 74,725,121 (GRCm39)	I625N	possibly damaging	Het
Tubgcp5	T	A	7: 55,479,181 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,682,594 (GRCm39)	Y172F	probably damaging	Het
Ube2e3	A	T	2: 78,744,035 (GRCm39)	D88V	possibly damaging	Het
Vmn1r189	T	A	13: 22,286,430 (GRCm39)	I136L	probably benign	Het
Vmn2r71	A	G	7: 85,267,950 (GRCm39)	I135V	probably benign	Het
Vmn2r73	T	A	7: 85,519,073 (GRCm39)	R516S	probably benign	Het
Wrn	C	T	8: 33,731,006 (GRCm39)	E1352K	probably benign	Het
Zfp318	T	C	17: 46,722,139 (GRCm39)	S1381P	probably damaging	Het
Zfp747	A	T	7: 126,973,655 (GRCm39)	Y172N	probably damaging	Het

Other mutations in Pou2f3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Pou2f3	APN	9	43,040,188 (GRCm39)	missense	probably damaging	1.00
IGL00508:Pou2f3	APN	9	43,051,258 (GRCm39)	missense	probably benign	0.01
IGL00975:Pou2f3	APN	9	43,048,679 (GRCm39)	missense	probably benign
IGL01577:Pou2f3	APN	9	43,058,178 (GRCm39)	nonsense	probably null
IGL01871:Pou2f3	APN	9	43,045,768 (GRCm39)	splice site	probably benign
IGL02370:Pou2f3	APN	9	43,048,643 (GRCm39)	missense	probably damaging	1.00
IGL02674:Pou2f3	APN	9	43,050,628 (GRCm39)	missense	probably damaging	1.00
IGL02746:Pou2f3	APN	9	43,058,143 (GRCm39)	missense	probably benign	0.01
IGL02956:Pou2f3	APN	9	43,054,100 (GRCm39)	splice site	probably benign
IGL02962:Pou2f3	APN	9	43,036,384 (GRCm39)	utr 3 prime	probably benign
IGL03082:Pou2f3	APN	9	43,058,212 (GRCm39)	critical splice acceptor site	probably null
R0433:Pou2f3	UTSW	9	43,038,693 (GRCm39)	missense	probably benign	0.23
R0622:Pou2f3	UTSW	9	43,036,414 (GRCm39)	missense	probably damaging	1.00
R0926:Pou2f3	UTSW	9	43,058,198 (GRCm39)	missense	probably damaging	1.00
R1956:Pou2f3	UTSW	9	43,056,534 (GRCm39)	missense	probably benign
R4782:Pou2f3	UTSW	9	43,051,153 (GRCm39)	missense	probably damaging	0.97
R4877:Pou2f3	UTSW	9	43,050,618 (GRCm39)	missense	possibly damaging	0.58
R5070:Pou2f3	UTSW	9	43,056,578 (GRCm39)	missense	possibly damaging	0.52
R5910:Pou2f3	UTSW	9	43,045,769 (GRCm39)	splice site	probably null
R6280:Pou2f3	UTSW	9	43,050,635 (GRCm39)	missense	probably damaging	1.00
R6280:Pou2f3	UTSW	9	43,050,634 (GRCm39)	missense	probably damaging	1.00
R6465:Pou2f3	UTSW	9	43,051,162 (GRCm39)	missense	probably damaging	1.00
R7084:Pou2f3	UTSW	9	43,040,188 (GRCm39)	missense	probably damaging	1.00
R7161:Pou2f3	UTSW	9	43,050,658 (GRCm39)	missense	probably damaging	1.00
R8036:Pou2f3	UTSW	9	43,058,205 (GRCm39)	missense	probably damaging	1.00
R8406:Pou2f3	UTSW	9	43,051,153 (GRCm39)	missense	probably damaging	0.97
R8912:Pou2f3	UTSW	9	43,110,336 (GRCm39)	missense	probably benign	0.00
R9224:Pou2f3	UTSW	9	43,050,694 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATACACCGAGGGAATCCTG -3'
(R):5'- GGTCCACAGGTCTTCCTATG -3'

Sequencing Primer
(F):5'- TACCAGGTTGGCCTTGAACAC -3'
(R):5'- CAGGTCTTCCTATGAAGTACAAGGTG -3'

Posted On

2022-04-18