Incidental Mutation 'R1328:Pou4f2'
ID 157282
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 039394-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1328 (G1)
Quality Score 134
Status Validated
Chromosome 8
Chromosomal Location 79159639-79163274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79162759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 92 (A92V)
Ref Sequence ENSEMBL: ENSMUSP00000034115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034115]
AlphaFold Q63934
Predicted Effect probably benign
Transcript: ENSMUST00000034115
AA Change: A92V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688
AA Change: A92V

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
Meta Mutation Damage Score 0.0698 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 89.9%
Validation Efficiency 100% (37/37)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 C T 7: 43,906,516 (GRCm39) probably null Het
Bcap29 T C 12: 31,680,807 (GRCm39) I60V probably benign Het
Ccdc71 T A 9: 108,340,148 (GRCm39) probably benign Het
Ccnb1ip1 A T 14: 51,027,382 (GRCm39) V240E probably benign Het
Copa C T 1: 171,949,258 (GRCm39) probably benign Het
Dmxl2 G T 9: 54,303,533 (GRCm39) Q2314K probably benign Het
Fam181b T C 7: 92,729,437 (GRCm39) I70T probably damaging Het
Fbxl14 T C 6: 119,457,347 (GRCm39) L176P possibly damaging Het
Fip1l1 T A 5: 74,706,796 (GRCm39) F144L possibly damaging Het
Flnc T C 6: 29,438,612 (GRCm39) W169R probably damaging Het
H2-M3 T C 17: 37,581,925 (GRCm39) V127A possibly damaging Het
Il23r T A 6: 67,468,802 (GRCm39) probably benign Het
Krt18 C T 15: 101,939,169 (GRCm39) A251V probably benign Het
Mast1 A G 8: 85,644,617 (GRCm39) probably benign Het
Or6c202 A G 10: 128,996,293 (GRCm39) S187P possibly damaging Het
Or9i14 G A 19: 13,792,900 (GRCm39) T18I probably benign Het
Pkhd1l1 T C 15: 44,361,392 (GRCm39) Y481H probably benign Het
Polr3e C T 7: 120,533,046 (GRCm39) probably benign Het
Pramel5 A G 4: 143,998,058 (GRCm39) L395P probably damaging Het
Prmt9 T C 8: 78,299,283 (GRCm39) I659T possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rrp36 T A 17: 46,983,705 (GRCm39) K36* probably null Het
Sag G A 1: 87,738,016 (GRCm39) probably benign Het
Setd7 T C 3: 51,450,240 (GRCm39) Y62C possibly damaging Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Sox13 T C 1: 133,311,555 (GRCm39) D559G probably damaging Het
Srd5a1 T A 13: 69,723,310 (GRCm39) Y236F probably damaging Het
Stxbp2 A T 8: 3,692,657 (GRCm39) I570F possibly damaging Het
Tbc1d31 T C 15: 57,805,859 (GRCm39) probably benign Het
Trim33 A G 3: 103,260,913 (GRCm39) T1064A possibly damaging Het
Vmn1r8 T C 6: 57,013,278 (GRCm39) S110P possibly damaging Het
Vmn2r118 C A 17: 55,915,620 (GRCm39) M443I probably benign 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
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
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 PCR Primer
(F):5'- ATCCTGAAACTCGGCAGCGAGAAG -3'
(R):5'- TGATGATGTCCCTGAACAGCAAGC -3'

Sequencing Primer
(F):5'- caacacaacacaacacaacac -3'
(R):5'- AGTACTCGGCGCTACACAG -3'
Posted On 2014-02-18