Incidental Mutation 'R1680:Pou4f2'
ID 188421
Institutional Source Beutler Lab
Gene Symbol Pou4f2
Ensembl Gene ENSMUSG00000031688
Gene Name POU domain, class 4, transcription factor 2
Synonyms Pou4f-rs1, Brn-3.2, Brn3b, mBrn3-3R, Brn-3b
MMRRC Submission 039716-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1680 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 78433010-78436645 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78434831 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 381 (A381D)
Ref Sequence ENSEMBL: ENSMUSP00000034115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034115]
AlphaFold Q63934
Predicted Effect probably damaging
Transcript: ENSMUST00000034115
AA Change: A381D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034115
Gene: ENSMUSG00000031688
AA Change: A381D

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,603,528 (GRCm38) P187R probably damaging Het
Ahnak T A 19: 9,009,963 (GRCm38) H2870Q probably benign Het
Arhgef33 C T 17: 80,347,651 (GRCm38) S95F probably damaging Het
Atp1a2 T A 1: 172,278,954 (GRCm38) D827V probably damaging Het
Bcat1 T G 6: 145,039,628 (GRCm38) D96A probably damaging Het
Birc6 A T 17: 74,548,746 (GRCm38) I184L probably benign Het
Ccdc129 C T 6: 55,968,766 (GRCm38) T824I probably damaging Het
Clca3b A T 3: 144,837,824 (GRCm38) L415M probably damaging Het
Clstn1 T C 4: 149,643,726 (GRCm38) V617A probably benign Het
Col22a1 G A 15: 71,799,361 (GRCm38) A1050V unknown Het
Col5a3 C T 9: 20,784,668 (GRCm38) probably null Het
Csmd3 G A 15: 47,741,170 (GRCm38) T1059I probably damaging Het
Dclk2 C T 3: 86,805,639 (GRCm38) R503Q possibly damaging Het
Dnm3 A G 1: 162,010,976 (GRCm38) V272A probably benign Het
Dnmt3a A G 12: 3,873,361 (GRCm38) Q187R probably damaging Het
Dpp9 A G 17: 56,190,103 (GRCm38) Y710H probably benign Het
Eef1a2 A T 2: 181,152,941 (GRCm38) M155K possibly damaging Het
Entpd8 G A 2: 25,084,024 (GRCm38) C331Y probably damaging Het
Erc1 A C 6: 119,575,761 (GRCm38) L1072R probably damaging Het
Fam160b2 T C 14: 70,586,851 (GRCm38) Y482C probably damaging Het
Gtf3c2 A G 5: 31,173,868 (GRCm38) S155P probably damaging Het
Gucy2c A G 6: 136,722,493 (GRCm38) S617P probably damaging Het
Ice1 T C 13: 70,605,448 (GRCm38) R840G probably benign Het
Il1rl2 T C 1: 40,351,793 (GRCm38) Y299H possibly damaging Het
Ints7 T G 1: 191,621,162 (GRCm38) probably null Het
Ireb2 C T 9: 54,881,518 (GRCm38) T92I probably damaging Het
Kcnj8 A T 6: 142,570,189 (GRCm38) L64* probably null Het
Mapk8ip3 A G 17: 24,901,011 (GRCm38) V983A probably damaging Het
Mertk A G 2: 128,801,636 (GRCm38) D985G probably benign Het
Mical3 A T 6: 120,959,643 (GRCm38) S1307R probably benign Het
Ncaph2 A G 15: 89,364,622 (GRCm38) D222G probably benign Het
Nf1 C A 11: 79,550,998 (GRCm38) S295* probably null Het
Nlrp12 T A 7: 3,241,174 (GRCm38) D236V probably damaging Het
Npnt A G 3: 132,906,802 (GRCm38) V74A probably benign Het
Oasl1 A G 5: 114,935,944 (GRCm38) D304G probably damaging Het
Olfr1098 C T 2: 86,923,161 (GRCm38) V124I probably benign Het
Olfr556 A G 7: 102,670,733 (GRCm38) D271G possibly damaging Het
Olfr834 A G 9: 18,988,516 (GRCm38) H176R possibly damaging Het
Olfr936 T C 9: 39,047,000 (GRCm38) I140V probably benign Het
Patz1 A G 11: 3,307,812 (GRCm38) K604E probably damaging Het
Pcsk6 T A 7: 66,035,250 (GRCm38) V793E probably benign Het
Pla2g4d C T 2: 120,277,750 (GRCm38) probably null Het
Plxnc1 A C 10: 94,841,551 (GRCm38) L938R probably benign Het
Prdm4 A G 10: 85,899,223 (GRCm38) L685P possibly damaging Het
Pxn T A 5: 115,552,147 (GRCm38) V383E probably damaging Het
Rbl1 A G 2: 157,174,783 (GRCm38) L632P probably damaging Het
Rnf135 T A 11: 80,196,881 (GRCm38) S219T possibly damaging Het
Sdk2 T C 11: 113,791,436 (GRCm38) D2039G possibly damaging Het
Sdk2 C T 11: 113,838,646 (GRCm38) silent Het
Slc5a6 A G 5: 31,042,644 (GRCm38) Y131H probably damaging Het
Slc9a1 T C 4: 133,418,080 (GRCm38) I492T probably damaging Het
Soga3 A T 10: 29,196,839 (GRCm38) Q709L probably damaging Het
Spag5 A G 11: 78,320,616 (GRCm38) K993E probably damaging Het
Sptbn1 T G 11: 30,159,371 (GRCm38) I75L possibly damaging Het
Syngap1 T C 17: 26,952,579 (GRCm38) S46P possibly damaging Het
Tfcp2l1 T A 1: 118,675,605 (GRCm38) F458I probably damaging Het
Tmem67 A G 4: 12,087,840 (GRCm38) V102A probably benign Het
Tomm70a T C 16: 57,121,961 (GRCm38) S34P unknown Het
Txlnb G T 10: 17,843,233 (GRCm38) G604V probably benign Het
Ube2q1 A G 3: 89,776,176 (GRCm38) T143A probably benign Het
Unc80 C T 1: 66,503,669 (GRCm38) R361* probably null Het
Vcan T C 13: 89,703,547 (GRCm38) D1098G probably benign Het
Vmn1r176 T A 7: 23,835,381 (GRCm38) T116S probably damaging Het
Wdr81 C T 11: 75,454,423 (GRCm38) R6K probably benign Het
Zan T A 5: 137,403,050 (GRCm38) T4136S unknown Het
Zbtb14 C A 17: 69,388,502 (GRCm38) F398L probably damaging Het
Zfp606 A T 7: 12,493,971 (GRCm38) H615L probably damaging Het
Zp3r A T 1: 130,582,880 (GRCm38) N433K probably benign Het
Other mutations in Pou4f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Pou4f2 APN 8 78,435,105 (GRCm38) missense probably damaging 0.99
IGL01578:Pou4f2 APN 8 78,435,655 (GRCm38) missense probably damaging 1.00
IGL02750:Pou4f2 APN 8 78,435,063 (GRCm38) missense probably damaging 1.00
R0538:Pou4f2 UTSW 8 78,435,662 (GRCm38) missense probably damaging 1.00
R0597:Pou4f2 UTSW 8 78,435,240 (GRCm38) missense probably benign 0.00
R1328:Pou4f2 UTSW 8 78,436,130 (GRCm38) missense probably benign 0.01
R2376:Pou4f2 UTSW 8 78,436,185 (GRCm38) missense unknown
R3980:Pou4f2 UTSW 8 78,435,438 (GRCm38) missense possibly damaging 0.88
R4770:Pou4f2 UTSW 8 78,436,401 (GRCm38) missense unknown
R4771:Pou4f2 UTSW 8 78,435,236 (GRCm38) missense possibly damaging 0.67
R5288:Pou4f2 UTSW 8 78,436,329 (GRCm38) missense unknown
R5395:Pou4f2 UTSW 8 78,435,072 (GRCm38) missense probably damaging 1.00
R5930:Pou4f2 UTSW 8 78,436,391 (GRCm38) missense unknown
R6036:Pou4f2 UTSW 8 78,435,474 (GRCm38) missense probably damaging 0.96
R6036:Pou4f2 UTSW 8 78,435,474 (GRCm38) missense probably damaging 0.96
R6883:Pou4f2 UTSW 8 78,435,678 (GRCm38) missense probably benign 0.01
R7300:Pou4f2 UTSW 8 78,436,106 (GRCm38) splice site probably null
R7820:Pou4f2 UTSW 8 78,436,502 (GRCm38) start gained probably benign
R7983:Pou4f2 UTSW 8 78,434,939 (GRCm38) missense probably benign 0.16
R8944:Pou4f2 UTSW 8 78,435,303 (GRCm38) missense
R9171:Pou4f2 UTSW 8 78,436,119 (GRCm38) missense probably benign 0.03
Z1088:Pou4f2 UTSW 8 78,435,601 (GRCm38) missense probably benign 0.00
Z1177:Pou4f2 UTSW 8 78,435,180 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09