Incidental Mutation 'R6036:Pou4f2'
ID 479214
Institutional Source Beutler Lab
Gene Symbol Pou4f2
Ensembl Gene ENSMUSG00000031688
Gene Name POU domain, class 4, transcription factor 2
Synonyms Pou4f-rs1, Brn-3b, Brn3b, Brn-3.2, mBrn3-3R
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6036 (G1)
Quality Score 81.0075
Status Not validated
Chromosome 8
Chromosomal Location 79159639-79163274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79162103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 167 (S167T)
Ref Sequence ENSEMBL: ENSMUSP00000034115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034115]
AlphaFold Q63934
Predicted Effect probably damaging
Transcript: ENSMUST00000034115
AA Change: S167T

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688
AA Change: S167T

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
  • 1x: 99.8%
  • 3x: 99.0%
  • 10x: 92.6%
  • 20x: 72.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Alpk3 G A 7: 80,743,005 (GRCm39) V941M probably benign Het
Ano4 A G 10: 88,818,127 (GRCm39) W588R possibly damaging Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Eif4enif1 T C 11: 3,189,420 (GRCm39) S227P probably damaging Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Hp A G 8: 110,303,406 (GRCm39) probably null Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Scd4 G A 19: 44,333,231 (GRCm39) D319N probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Stat6 A G 10: 127,491,313 (GRCm39) N485D possibly damaging Het
Tpcn2 T C 7: 144,822,606 (GRCm39) T280A possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ttll7 A G 3: 146,645,917 (GRCm39) I592V probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Zfp780b A G 7: 27,662,993 (GRCm39) Y521H probably damaging Het
Other mutations in Pou4f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Pou4f2 APN 8 79,161,734 (GRCm39) missense probably damaging 0.99
IGL01578:Pou4f2 APN 8 79,162,284 (GRCm39) missense probably damaging 1.00
IGL02750:Pou4f2 APN 8 79,161,692 (GRCm39) missense probably damaging 1.00
R0538:Pou4f2 UTSW 8 79,162,291 (GRCm39) missense probably damaging 1.00
R0597:Pou4f2 UTSW 8 79,161,869 (GRCm39) missense probably benign 0.00
R1328:Pou4f2 UTSW 8 79,162,759 (GRCm39) missense probably benign 0.01
R1680:Pou4f2 UTSW 8 79,161,460 (GRCm39) missense probably damaging 1.00
R2376:Pou4f2 UTSW 8 79,162,814 (GRCm39) missense unknown
R3980:Pou4f2 UTSW 8 79,162,067 (GRCm39) missense possibly damaging 0.88
R4770:Pou4f2 UTSW 8 79,163,030 (GRCm39) missense unknown
R4771:Pou4f2 UTSW 8 79,161,865 (GRCm39) missense possibly damaging 0.67
R5288:Pou4f2 UTSW 8 79,162,958 (GRCm39) missense unknown
R5395:Pou4f2 UTSW 8 79,161,701 (GRCm39) missense probably damaging 1.00
R5930:Pou4f2 UTSW 8 79,163,020 (GRCm39) missense unknown
R6036:Pou4f2 UTSW 8 79,162,103 (GRCm39) missense probably damaging 0.96
R6883:Pou4f2 UTSW 8 79,162,307 (GRCm39) missense probably benign 0.01
R7300:Pou4f2 UTSW 8 79,162,735 (GRCm39) splice site probably null
R7820:Pou4f2 UTSW 8 79,163,131 (GRCm39) start gained probably benign
R7983:Pou4f2 UTSW 8 79,161,568 (GRCm39) missense probably benign 0.16
R8944:Pou4f2 UTSW 8 79,161,932 (GRCm39) missense
R9171:Pou4f2 UTSW 8 79,162,748 (GRCm39) missense probably benign 0.03
Z1088:Pou4f2 UTSW 8 79,162,230 (GRCm39) missense probably benign 0.00
Z1177:Pou4f2 UTSW 8 79,161,809 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2017-06-26