Mutagenetix > Incidental Mutation

Incidental Mutation 'R8912:Pou2f3'

678693

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 #

R8912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43123939-43210369 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43199039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 30 (V30L)

Ref Sequence

ENSEMBL: ENSMUSP00000135115 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034513
AA Change: V18L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015
AA Change: V18L

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 benign
Transcript: ENSMUST00000176636
AA Change: V30L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015
AA Change: V30L

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: 99.2%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	C	T	5: 113,723,706	W34*	probably null	Het
Adck5	T	C	15: 76,593,235	S90P	probably damaging	Het
Adgra3	C	A	5: 49,960,931	A1092S	possibly damaging	Het
Arhgap33	A	T	7: 30,533,042		probably benign	Het
Arih2	C	G	9: 108,611,739	R260P	probably damaging	Het
Atp6ap1l	T	A	13: 90,898,860		probably null	Het
BC022687	T	C	12: 112,815,703	V320A	possibly damaging	Het
Brd2	A	T	17: 34,113,484		probably benign	Het
Cfap46	A	T	7: 139,680,181		probably benign	Het
Ciao1	A	G	2: 127,246,679	V108A	possibly damaging	Het
Dnah3	T	A	7: 120,090,646	H22L	probably benign	Het
Dnajc6	A	G	4: 101,611,316	Y251C	probably damaging	Het
Dsg2	T	A	18: 20,582,821	N273K	probably damaging	Het
Egf	A	G	3: 129,737,515	V137A	possibly damaging	Het
Ercc6	C	T	14: 32,526,254	P254L	probably benign	Het
Erh	G	T	12: 80,637,508	A65E	probably benign	Het
Fbln2	A	G	6: 91,263,438	E789G	possibly damaging	Het
Fbxl13	T	G	5: 21,522,186	D571A	probably damaging	Het
Fbxw26	T	A	9: 109,732,649	E159V	probably damaging	Het
Fndc1	T	C	17: 7,800,946	I134V	probably null	Het
Fsip2	A	G	2: 82,980,594	D2419G	probably benign	Het
Gm15448	A	T	7: 3,822,819	D350E	unknown	Het
Gm3371	T	C	14: 44,403,781	K109E		Het
Gm5414	A	G	15: 101,628,185	S2P	possibly damaging	Het
Igkv1-110	G	T	6: 68,270,966	D20Y	probably damaging	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Ippk	A	G	13: 49,450,037	D422G	probably damaging	Het
Irs2	A	T	8: 11,006,655	D592E	probably damaging	Het
Klra9	A	G	6: 130,182,405	I215T	probably damaging	Het
Lrrc8b	T	A	5: 105,481,558	L590Q	probably damaging	Het
Myh10	A	G	11: 68,790,103		probably null	Het
Neto1	A	G	18: 86,461,048	D159G	probably damaging	Het
Nr1d2	T	C	14: 18,220,030	K104E	probably damaging	Het
Nrcam	T	C	12: 44,598,583	V1256A	probably damaging	Het
Nufip2	T	C	11: 77,741,728	V690A	unknown	Het
Olfr1160	C	T	2: 88,006,317	A145T	possibly damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr187	A	G	16: 59,035,900	V279A	probably benign	Het
Olfr70	T	A	4: 43,697,017	D52V	probably benign	Het
Patj	A	G	4: 98,497,328	H444R		Het
Pclo	T	C	5: 14,775,321	L1356P		Het
Pde4dip	A	G	3: 97,710,317	S1732P	probably damaging	Het
Pi4ka	A	T	16: 17,389,366	I25N		Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,457,541		probably benign	Het
Reck	T	A	4: 43,938,802		probably benign	Het
Sdha	A	T	13: 74,327,204		probably benign	Het
Serinc1	A	C	10: 57,523,979	S191A	probably benign	Het
Sgo2a	T	C	1: 58,017,401	S915P	probably damaging	Het
Sgsh	T	C	11: 119,352,660	T79A	probably damaging	Het
Sik1	A	G	17: 31,850,945	V207A	possibly damaging	Het
Skap1	A	T	11: 96,754,076	I338F	probably damaging	Het
Sowahc	G	T	10: 59,221,991		probably benign	Het
Spata31d1d	T	C	13: 59,727,322	K800E	possibly damaging	Het
Spin1	T	A	13: 51,144,397	W151R	probably damaging	Het
Srfbp1	A	G	18: 52,490,614	T438A	possibly damaging	Het
Srrm2	A	G	17: 23,819,601	T1740A	probably benign	Het
Tacr1	A	T	6: 82,557,033	S347C	probably damaging	Het
Taf1b	T	C	12: 24,516,861	S185P	possibly damaging	Het
Tanc2	C	T	11: 105,867,327	T638I	probably benign	Het
Tdrkh	T	C	3: 94,429,171	Y472H	probably damaging	Het
Trav4-2	C	G	14: 53,418,809	Y89*	probably null	Het
Trpm1	G	T	7: 64,268,880	R1540L	probably benign	Het
Ttc21a	T	C	9: 119,941,301		probably null	Het
Ttc37	T	A	13: 76,157,242		probably benign	Het
Tti1	A	G	2: 158,009,268	V17A	probably benign	Het
Vamp8	A	G	6: 72,388,293	L44P	probably benign	Het
Vmn1r63	G	T	7: 5,803,132	S167Y	probably damaging	Het
Xrn2	T	C	2: 147,049,993	V710A	probably benign	Het
Zfp518a	A	C	19: 40,913,426	K600Q	possibly damaging	Het
Zfyve28	T	C	5: 34,217,311	D453G	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
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'- TATTGCAAGGCTCCAGAGTC -3'
(R):5'- TCTGTGCCTCCAAGCTTATG -3'

Sequencing Primer
(F):5'- AAGGCTCCAGAGTCATGCC -3'
(R):5'- GTGCCTCCAAGCTTATGAATATTC -3'

Posted On

2021-08-02