Incidental Mutation 'R6280:Pou2f3'
ID 507909
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 044450-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6280 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 43035222-43117052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43050634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 242 (L242Q)
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: L230Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015
AA Change: L230Q

DomainStartEndE-ValueType
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: L242Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015
AA Change: L242Q

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.8508 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,311,619 (GRCm39) D1930N probably benign Het
Adam8 A G 7: 139,564,720 (GRCm39) L667S probably damaging Het
Adcy4 A T 14: 56,016,500 (GRCm39) I317N probably damaging Het
Agpat3 A G 10: 78,120,872 (GRCm39) F102S probably damaging Het
Apbb2 A T 5: 66,522,325 (GRCm39) W443R probably damaging Het
BC049715 T A 6: 136,817,229 (GRCm39) Y156* probably null Het
Bpifc C T 10: 85,813,576 (GRCm39) V323I probably benign Het
Camp T G 9: 109,676,577 (GRCm39) I149L probably benign Het
Cfap20dc T G 14: 8,473,414 (GRCm38) probably null Het
Cibar2 A G 8: 120,898,858 (GRCm39) I94T possibly damaging Het
Cnih1 A G 14: 47,025,634 (GRCm39) probably null Het
Col18a1 A T 10: 76,948,323 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,724 (GRCm39) D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 (GRCm39) V442I probably benign Het
Fam83g G T 11: 61,594,008 (GRCm39) S514I probably benign Het
Fbxo7 A G 10: 85,864,969 (GRCm39) N93D probably benign Het
Fgf20 G T 8: 40,734,153 (GRCm39) S76* probably null Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Fxr1 G A 3: 34,100,401 (GRCm39) probably benign Het
Gon4l T A 3: 88,798,195 (GRCm39) L800H probably damaging Het
Gpn3 T A 5: 122,512,022 (GRCm39) S33T probably benign Het
Gria4 T C 9: 4,456,072 (GRCm39) M743V probably damaging Het
Hira A G 16: 18,729,457 (GRCm39) N109D probably damaging Het
Hsd3b3 A G 3: 98,660,621 (GRCm39) probably null Het
Hsf2 T G 10: 57,387,591 (GRCm39) S370A probably benign Het
Htt T A 5: 35,028,103 (GRCm39) D1786E probably benign Het
Ifit1bl2 T A 19: 34,597,534 (GRCm39) R27S possibly damaging Het
Il17rb G A 14: 29,724,928 (GRCm39) A186V probably benign Het
Irak4 G T 15: 94,449,691 (GRCm39) E57* probably null Het
Kcnh2 T A 5: 24,536,921 (GRCm39) H221L probably benign Het
Kdm2b T C 5: 123,016,687 (GRCm39) N1149D probably damaging Het
Kif26a A G 12: 112,141,303 (GRCm39) H702R probably damaging Het
Kmt2e T C 5: 23,704,514 (GRCm39) S1236P possibly damaging Het
Krt77 T A 15: 101,773,910 (GRCm39) D248V probably damaging Het
Lgals3bp T C 11: 118,284,106 (GRCm39) N52S possibly damaging Het
Lhfpl6 T C 3: 53,167,935 (GRCm39) Y170H probably damaging Het
Lpin2 A G 17: 71,539,243 (GRCm39) probably benign Het
Lrig3 T C 10: 125,846,848 (GRCm39) I872T probably benign Het
Lrit3 T C 3: 129,582,412 (GRCm39) E525G probably damaging Het
Lrp1 T C 10: 127,425,453 (GRCm39) T726A probably benign Het
Mep1a A T 17: 43,813,283 (GRCm39) N46K probably damaging Het
Muc16 C A 9: 18,490,613 (GRCm39) probably null Het
N4bp1 A C 8: 87,579,794 (GRCm39) N669K possibly damaging Het
Nelfcd A G 2: 174,257,739 (GRCm39) D26G probably benign Het
Neu4 G A 1: 93,952,873 (GRCm39) S414N probably damaging Het
Nudt9 A G 5: 104,212,935 (GRCm39) D336G probably benign Het
Obscn C A 11: 58,954,509 (GRCm39) G3691V possibly damaging Het
Or4c52 A C 2: 89,845,393 (GRCm39) I40L possibly damaging Het
Or5t17 A G 2: 86,832,364 (GRCm39) N17S probably damaging Het
Pdgfd T A 9: 6,288,627 (GRCm39) S94T probably benign Het
Picalm A G 7: 89,826,770 (GRCm39) H290R probably benign Het
Prkd3 C T 17: 79,289,360 (GRCm39) G187D probably damaging Het
Pwp1 A G 10: 85,710,326 (GRCm39) S49G probably damaging Het
Ralgapa2 A G 2: 146,184,129 (GRCm39) L1626P probably damaging Het
Resf1 T C 6: 149,228,555 (GRCm39) S534P probably damaging Het
Rin2 A G 2: 145,702,939 (GRCm39) Y545C probably damaging Het
Rwdd4a A G 8: 47,995,832 (GRCm39) T71A probably benign Het
Senp7 T C 16: 55,982,738 (GRCm39) F504L possibly damaging Het
Slc12a6 A G 2: 112,167,703 (GRCm39) T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc34a1 A G 13: 24,006,377 (GRCm39) S468G probably benign Het
Slc4a10 A G 2: 62,112,310 (GRCm39) N697S probably benign Het
Spint1 T A 2: 119,075,759 (GRCm39) V194E possibly damaging Het
Sptlc2 A T 12: 87,434,905 (GRCm39) M14K probably benign Het
Stard9 A G 2: 120,531,608 (GRCm39) K2622E probably benign Het
Tbc1d5 T C 17: 51,089,338 (GRCm39) N614S probably benign Het
Tdpoz2 A T 3: 93,559,190 (GRCm39) C261S probably benign Het
Tmem150b A T 7: 4,727,373 (GRCm39) I44N probably benign Het
Ttn A G 2: 76,608,502 (GRCm39) L17807P probably damaging Het
Vcan G A 13: 89,873,492 (GRCm39) R121W probably damaging Het
Vmn2r15 T A 5: 109,441,291 (GRCm39) H189L possibly damaging Het
Vmn2r19 A G 6: 123,313,212 (GRCm39) S761G probably benign Het
Wdr11 A T 7: 129,200,830 (GRCm39) K34* probably null Het
Zfp120 A T 2: 149,959,964 (GRCm39) S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 (GRCm39) P740A probably benign Het
Other mutations in Pou2f3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9329:Pou2f3 UTSW 9 43,040,224 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATTTCTTGGTTCGTGCCAG -3'
(R):5'- ATACAAGGCTGTGCGCAGATG -3'

Sequencing Primer
(F):5'- TTCGTGCCAGGCTGAAGAG -3'
(R):5'- AGATGCTCAGGGCTCTGACTG -3'
Posted On 2018-03-15