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

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

MMRRC Submission

068765-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8912 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43035222-43117052 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43110336 bp (GRCm39)

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: 113,861,767 (GRCm39)	W34*	probably null	Het
Adck5	T	C	15: 76,477,435 (GRCm39)	S90P	probably damaging	Het
Adgra3	C	A	5: 50,118,273 (GRCm39)	A1092S	possibly damaging	Het
Arhgap33	A	T	7: 30,232,467 (GRCm39)		probably benign	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Atp6ap1l	T	A	13: 91,046,979 (GRCm39)		probably null	Het
Brd2	A	T	17: 34,332,458 (GRCm39)		probably benign	Het
Cfap46	A	T	7: 139,260,097 (GRCm39)		probably benign	Het
Ciao1	A	G	2: 127,088,599 (GRCm39)	V108A	possibly damaging	Het
Clba1	T	C	12: 112,779,323 (GRCm39)	V320A	possibly damaging	Het
Dnah3	T	A	7: 119,689,869 (GRCm39)	H22L	probably benign	Het
Dnajc6	A	G	4: 101,468,513 (GRCm39)	Y251C	probably damaging	Het
Dsg2	T	A	18: 20,715,878 (GRCm39)	N273K	probably damaging	Het
Egf	A	G	3: 129,531,164 (GRCm39)	V137A	possibly damaging	Het
Ercc6	C	T	14: 32,248,211 (GRCm39)	P254L	probably benign	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Fbln2	A	G	6: 91,240,420 (GRCm39)	E789G	possibly damaging	Het
Fbxl13	T	G	5: 21,727,184 (GRCm39)	D571A	probably damaging	Het
Fbxw26	T	A	9: 109,561,717 (GRCm39)	E159V	probably damaging	Het
Fndc1	T	C	17: 8,019,778 (GRCm39)	I134V	probably null	Het
Fsip2	A	G	2: 82,810,938 (GRCm39)	D2419G	probably benign	Het
Gm3371	T	C	14: 44,641,238 (GRCm39)	K109E		Het
Gm5414	A	G	15: 101,536,620 (GRCm39)	S2P	possibly damaging	Het
Igkv1-110	G	T	6: 68,247,950 (GRCm39)	D20Y	probably damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ippk	A	G	13: 49,603,513 (GRCm39)	D422G	probably damaging	Het
Irs2	A	T	8: 11,056,655 (GRCm39)	D592E	probably damaging	Het
Klra9	A	G	6: 130,159,368 (GRCm39)	I215T	probably damaging	Het
Lrrc8b	T	A	5: 105,629,424 (GRCm39)	L590Q	probably damaging	Het
Myh10	A	G	11: 68,680,929 (GRCm39)		probably null	Het
Neto1	A	G	18: 86,479,173 (GRCm39)	D159G	probably damaging	Het
Nr1d2	T	C	14: 18,220,030 (GRCm38)	K104E	probably damaging	Het
Nrcam	T	C	12: 44,645,366 (GRCm39)	V1256A	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Or13e8	T	A	4: 43,697,017 (GRCm39)	D52V	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or5h19	A	G	16: 58,856,263 (GRCm39)	V279A	probably benign	Het
Or9m1b	C	T	2: 87,836,661 (GRCm39)	A145T	possibly damaging	Het
Patj	A	G	4: 98,385,565 (GRCm39)	H444R		Het
Pclo	T	C	5: 14,825,335 (GRCm39)	L1356P		Het
Pde4dip	A	G	3: 97,617,633 (GRCm39)	S1732P	probably damaging	Het
Pi4ka	A	T	16: 17,207,230 (GRCm39)	I25N		Het
Pira13	A	T	7: 3,825,818 (GRCm39)	D350E	unknown	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Reck	T	A	4: 43,938,802 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,475,323 (GRCm39)		probably benign	Het
Serinc1	A	C	10: 57,400,075 (GRCm39)	S191A	probably benign	Het
Sgo2a	T	C	1: 58,056,560 (GRCm39)	S915P	probably damaging	Het
Sgsh	T	C	11: 119,243,486 (GRCm39)	T79A	probably damaging	Het
Sik1	A	G	17: 32,069,919 (GRCm39)	V207A	possibly damaging	Het
Skap1	A	T	11: 96,644,902 (GRCm39)	I338F	probably damaging	Het
Skic3	T	A	13: 76,305,361 (GRCm39)		probably benign	Het
Sowahc	G	T	10: 59,057,813 (GRCm39)		probably benign	Het
Spata31d1d	T	C	13: 59,875,136 (GRCm39)	K800E	possibly damaging	Het
Spin1	T	A	13: 51,298,433 (GRCm39)	W151R	probably damaging	Het
Srfbp1	A	G	18: 52,623,686 (GRCm39)	T438A	possibly damaging	Het
Srrm2	A	G	17: 24,038,575 (GRCm39)	T1740A	probably benign	Het
Tacr1	A	T	6: 82,534,014 (GRCm39)	S347C	probably damaging	Het
Taf1b	T	C	12: 24,566,860 (GRCm39)	S185P	possibly damaging	Het
Tanc2	C	T	11: 105,758,153 (GRCm39)	T638I	probably benign	Het
Tdrkh	T	C	3: 94,336,478 (GRCm39)	Y472H	probably damaging	Het
Trav4-2	C	G	14: 53,656,266 (GRCm39)	Y89*	probably null	Het
Trpm1	G	T	7: 63,918,628 (GRCm39)	R1540L	probably benign	Het
Ttc21a	T	C	9: 119,770,367 (GRCm39)		probably null	Het
Tti1	A	G	2: 157,851,188 (GRCm39)	V17A	probably benign	Het
Vamp8	A	G	6: 72,365,276 (GRCm39)	L44P	probably benign	Het
Vmn1r63	G	T	7: 5,806,131 (GRCm39)	S167Y	probably damaging	Het
Xrn2	T	C	2: 146,891,913 (GRCm39)	V710A	probably benign	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfyve28	T	C	5: 34,374,655 (GRCm39)	D453G	probably benign	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
R9224:Pou2f3	UTSW	9	43,050,694 (GRCm39)	missense	probably damaging	1.00
R9329:Pou2f3	UTSW	9	43,040,224 (GRCm39)	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