Incidental Mutation 'IGL02750:Pou4f2'
ID306241
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 #IGL02750
Quality Score
Status
Chromosome8
Chromosomal Location78433010-78436645 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 78435063 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 304 (F304I)
Ref Sequence ENSEMBL: ENSMUSP00000034115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034115]
Predicted Effect probably damaging
Transcript: ENSMUST00000034115
AA Change: F304I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688
AA Change: F304I

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,548,791 K884R probably benign Het
Ano3 T A 2: 110,665,984 probably benign Het
Baz2b C A 2: 59,968,658 S374I possibly damaging Het
Brd4 G A 17: 32,198,379 probably benign Het
Cd3g C A 9: 44,971,310 probably benign Het
Ckmt1 C T 2: 121,363,615 probably benign Het
Clcnkb T C 4: 141,405,362 probably null Het
Dkkl1 C T 7: 45,210,112 probably null Het
Ehmt1 G A 2: 24,863,869 T161I probably damaging Het
Ern2 A G 7: 122,181,406 probably benign Het
Fmnl2 T C 2: 53,103,697 I368T possibly damaging Het
Gabra5 G T 7: 57,507,991 S25Y probably benign Het
Gemin7 C T 7: 19,565,419 V84M probably null Het
Gm17654 A G 14: 43,578,199 probably benign Het
Grk6 T C 13: 55,451,543 F186S probably damaging Het
Gtf2ird2 A G 5: 134,216,889 H663R probably damaging Het
Gtf3c1 T A 7: 125,676,512 I581F probably damaging Het
Herc2 T A 7: 56,204,379 probably benign Het
Hook3 A T 8: 26,095,754 probably benign Het
Ints4 T A 7: 97,517,757 probably null Het
Kpna6 T C 4: 129,661,377 N20D probably damaging Het
Krtap29-1 T C 11: 99,978,684 S124G probably benign Het
Krtap4-16 C A 11: 99,851,280 R98L possibly damaging Het
Lrrc28 T C 7: 67,531,683 D268G probably damaging Het
Mcm6 T A 1: 128,343,472 Q470L probably damaging Het
Neb T C 2: 52,291,055 H1180R probably benign Het
Nxpe3 C A 16: 55,860,375 V285L probably benign Het
Olfr118 T A 17: 37,672,609 C195* probably null Het
Olfr1281 A G 2: 111,329,288 R290G probably damaging Het
Olfr307 T A 7: 86,335,544 N284I probably damaging Het
Pdcd1 A G 1: 94,039,544 probably benign Het
Pnkp A G 7: 44,860,187 probably benign Het
Rita1 G A 5: 120,609,651 T194M possibly damaging Het
Rnpc3 T C 3: 113,621,939 T150A possibly damaging Het
Sema3b T C 9: 107,603,164 T168A probably benign Het
Skint5 T A 4: 113,539,362 M1205L unknown Het
Sox13 A C 1: 133,383,796 I566S probably benign Het
Tbc1d32 T C 10: 56,198,491 T209A possibly damaging Het
Tonsl G T 15: 76,633,389 P710Q probably damaging Het
Trpm5 T C 7: 143,074,484 H1018R possibly damaging Het
Ubr2 A T 17: 46,969,282 M647K probably benign Het
Ubr7 A T 12: 102,771,278 T395S possibly damaging Het
Uri1 G A 7: 37,967,481 R176* probably null Het
Vmn1r188 A T 13: 22,088,730 I285F probably damaging Het
Vmn2r116 T A 17: 23,397,634 probably benign Het
Vmn2r2 C A 3: 64,117,402 C586F probably damaging Het
Vmn2r96 T A 17: 18,582,589 W62R probably benign Het
Zfp24 A T 18: 24,017,353 S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 K1254R probably null Het
Other mutations in Pou4f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Pou4f2 APN 8 78435105 missense probably damaging 0.99
IGL01578:Pou4f2 APN 8 78435655 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 On2015-04-16