Incidental Mutation 'IGL01578:Pou4f2'
ID91343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou4f2
Ensembl Gene ENSMUSG00000031688
Gene NamePOU domain, class 4, transcription factor 2
SynonymsPou4f-rs1, Brn-3.2, Brn3b, mBrn3-3R, Brn-3b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01578
Quality Score
Status
Chromosome8
Chromosomal Location78433010-78436645 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 78435655 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 106 (D106E)
Ref Sequence ENSEMBL: ENSMUSP00000034115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034115]
Predicted Effect probably damaging
Transcript: ENSMUST00000034115
AA Change: D106E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688
AA Change: D106E

DomainStartEndE-ValueType
low complexity region 31 86 N/A INTRINSIC
low complexity region 109 118 N/A INTRINSIC
low complexity region 127 137 N/A INTRINSIC
low complexity region 151 168 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
POU 252 329 1.33e-51 SMART
HOX 347 409 3.31e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygote null mice have a 70% reduction in retinal ganglion cells, a thin retina, and an optic nerve with a decreased diameter and disorganized axons. Eyes have miotic pupils and defective optokinetic reflexes that prevent photo-entrainment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,270,710 E3167G unknown Het
Arhgap28 G A 17: 67,858,200 T516I probably benign Het
Birc6 T C 17: 74,648,197 C3486R probably benign Het
Camk2g G A 14: 20,747,854 probably benign Het
Dmxl1 T A 18: 49,962,205 H2950Q probably damaging Het
Eml6 A T 11: 29,850,870 S379T probably benign Het
Epb41l3 C T 17: 69,248,709 H13Y probably damaging Het
Fam149a A T 8: 45,350,442 D337E probably damaging Het
Galnt14 T A 17: 73,535,366 probably benign Het
Gm6489 G T 1: 31,287,335 noncoding transcript Het
Hspg2 G A 4: 137,539,183 R1885H probably damaging Het
Jag1 T A 2: 137,100,051 probably benign Het
Nalcn A T 14: 123,572,091 N216K probably benign Het
Ndst1 T C 18: 60,713,126 Y37C probably damaging Het
Nr2c2 A G 6: 92,162,038 N486S probably benign Het
Obscn A T 11: 58,999,680 L7342Q unknown Het
Olfr1051 C A 2: 86,275,741 V249F probably damaging Het
Olfr1402 A T 3: 97,410,720 C154S probably damaging Het
Olfr661 A G 7: 104,688,845 I277V probably benign Het
Ppic G A 18: 53,417,929 P10S unknown Het
Psd2 A G 18: 35,979,785 T178A probably damaging Het
Slc25a34 G T 4: 141,622,510 probably null Het
Stap2 A G 17: 55,997,623 S360P probably benign Het
Stx3 T C 19: 11,786,605 E129G probably damaging Het
Sun3 T A 11: 9,029,436 E28D probably damaging Het
Tmem126a C T 7: 90,451,542 probably null Het
Trove2 A T 1: 143,761,300 N391K probably damaging Het
Trpc6 A T 9: 8,634,057 H379L probably damaging Het
Ttf2 A G 3: 100,956,195 S608P possibly damaging Het
Tubgcp3 T C 8: 12,661,297 probably benign Het
Other mutations in Pou4f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Pou4f2 APN 8 78435105 missense probably damaging 0.99
IGL02750:Pou4f2 APN 8 78435063 missense probably damaging 1.00
R0538:Pou4f2 UTSW 8 78435662 missense probably damaging 1.00
R0597:Pou4f2 UTSW 8 78435240 missense probably benign 0.00
R1328:Pou4f2 UTSW 8 78436130 missense probably benign 0.01
R1680:Pou4f2 UTSW 8 78434831 missense probably damaging 1.00
R2376:Pou4f2 UTSW 8 78436185 missense unknown
R3980:Pou4f2 UTSW 8 78435438 missense possibly damaging 0.88
R4770:Pou4f2 UTSW 8 78436401 missense unknown
R4771:Pou4f2 UTSW 8 78435236 missense possibly damaging 0.67
R5288:Pou4f2 UTSW 8 78436329 missense unknown
R5395:Pou4f2 UTSW 8 78435072 missense probably damaging 1.00
R5930:Pou4f2 UTSW 8 78436391 missense unknown
R6036:Pou4f2 UTSW 8 78435474 missense probably damaging 0.96
R6036:Pou4f2 UTSW 8 78435474 missense probably damaging 0.96
R6883:Pou4f2 UTSW 8 78435678 missense probably benign 0.01
R7300:Pou4f2 UTSW 8 78436106 splice site probably null
Z1088:Pou4f2 UTSW 8 78435601 missense probably benign 0.00
Z1177:Pou4f2 UTSW 8 78435180 nonsense probably null
Posted On2013-12-09