Incidental Mutation 'IGL02674:Pou2f3'
ID 303042
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02674
Quality Score
Status
Chromosome 9
Chromosomal Location 43035222-43117052 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43050628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 244 (K244R)
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: K232R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034513
Gene: ENSMUSG00000032015
AA Change: K232R

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: K244R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135115
Gene: ENSMUSG00000032015
AA Change: K244R

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
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T C 15: 72,983,643 (GRCm39) R689G probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Akna A T 4: 63,289,181 (GRCm39) C1247* probably null Het
Appl1 T G 14: 26,671,418 (GRCm39) T345P possibly damaging Het
Chga A G 12: 102,529,160 (GRCm39) D379G probably damaging Het
Chrna6 C T 8: 27,896,879 (GRCm39) A333T probably benign Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnhd1 A G 7: 105,370,688 (GRCm39) Q4656R probably benign Het
Dock9 A C 14: 121,833,023 (GRCm39) probably null Het
Fat4 A G 3: 39,037,486 (GRCm39) N3713D probably benign Het
Fsd1 A T 17: 56,303,483 (GRCm39) T452S probably benign Het
G6pc2 A G 2: 69,056,910 (GRCm39) probably null Het
Gfus T C 15: 75,798,238 (GRCm39) D178G probably damaging Het
Itprid1 A G 6: 55,874,913 (GRCm39) T288A probably benign Het
Kcnh4 C A 11: 100,637,720 (GRCm39) V646L possibly damaging Het
Kcnk1 T C 8: 126,751,753 (GRCm39) Y120H probably damaging Het
L3mbtl3 C T 10: 26,158,711 (GRCm39) E646K unknown Het
Lrrc4c T C 2: 97,460,120 (GRCm39) W249R probably damaging Het
Meox1 A T 11: 101,784,767 (GRCm39) L22H probably damaging Het
Mrgpra4 C T 7: 47,630,690 (GRCm39) V304M probably benign Het
Ncaph T C 2: 126,955,496 (GRCm39) Y554C probably damaging Het
Nfx1 T C 4: 40,999,717 (GRCm39) probably null Het
Or10p1 A C 10: 129,443,939 (GRCm39) M137R possibly damaging Het
Or8g37 A G 9: 39,730,934 (GRCm39) probably null Het
Otol1 C T 3: 69,926,077 (GRCm39) P84L probably benign Het
Pcdhb11 T C 18: 37,556,667 (GRCm39) S666P probably damaging Het
Ppp6r1 T C 7: 4,649,812 (GRCm39) N51S probably damaging Het
Prdm4 A T 10: 85,729,263 (GRCm39) L715M probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rsc1a1 G T 4: 141,411,406 (GRCm39) P502Q probably damaging Het
Senp1 T C 15: 97,954,840 (GRCm39) E448G probably damaging Het
Shd A G 17: 56,278,554 (GRCm39) D39G possibly damaging Het
Skint5 A C 4: 113,487,582 (GRCm39) probably benign Het
Tmprss15 T G 16: 78,798,682 (GRCm39) T667P possibly damaging Het
Vps13b A T 15: 35,640,104 (GRCm39) M1325L probably benign Het
Zfp263 T C 16: 3,564,629 (GRCm39) probably benign Het
Zfp786 A G 6: 47,797,427 (GRCm39) F504L 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
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
R9329:Pou2f3 UTSW 9 43,040,224 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16