Incidental Mutation 'R5233:Pou3f3'
ID 398074
Institutional Source Beutler Lab
Gene Symbol Pou3f3
Ensembl Gene ENSMUSG00000045515
Gene Name POU domain, class 3, transcription factor 3
Synonyms HST011, Brn-1, Brn1, urehr2, Otf8
MMRRC Submission 042805-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5233 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 42734928-42739370 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42737438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 378 (N378S)
Ref Sequence ENSEMBL: ENSMUSP00000052088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054883]
AlphaFold P31361
Predicted Effect probably benign
Transcript: ENSMUST00000054883
AA Change: N378S

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000052088
Gene: ENSMUSG00000045515
AA Change: N378S

DomainStartEndE-ValueType
low complexity region 26 49 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
low complexity region 132 146 N/A INTRINSIC
low complexity region 162 206 N/A INTRINSIC
low complexity region 212 224 N/A INTRINSIC
low complexity region 235 250 N/A INTRINSIC
low complexity region 269 301 N/A INTRINSIC
POU 311 385 9.06e-54 SMART
HOX 403 465 3.91e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188153
Meta Mutation Damage Score 0.0880 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in death within 36 hours after birth. Mutant brains exhibit disorganized cells in the hippocampus and adjacent transitional cortex. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030619P08Rik T A 15: 75,301,801 (GRCm39) noncoding transcript Het
Aadat A G 8: 60,979,656 (GRCm39) I173V probably benign Het
Acsl6 G A 11: 54,216,432 (GRCm39) V200I possibly damaging Het
Alms1 T A 6: 85,633,353 (GRCm39) probably null Het
Arhgef17 A T 7: 100,530,576 (GRCm39) D1403E possibly damaging Het
Atp10b A G 11: 43,121,387 (GRCm39) T1017A probably benign Het
Capg C T 6: 72,532,509 (GRCm39) R25C probably damaging Het
Cd22 A G 7: 30,576,959 (GRCm39) I116T probably damaging Het
Cep135 AGTCTGCCTTTGG A 5: 76,739,690 (GRCm39) probably benign Het
Ciita A T 16: 10,327,265 (GRCm39) I277F possibly damaging Het
Col15a1 T C 4: 47,296,112 (GRCm39) V943A possibly damaging Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Csn3 C T 5: 88,077,694 (GRCm39) P67S probably benign Het
Csrnp3 A G 2: 65,852,684 (GRCm39) T359A possibly damaging Het
Cttnbp2nl A G 3: 104,912,357 (GRCm39) L509P probably damaging Het
Dclk3 A G 9: 111,297,749 (GRCm39) D431G probably benign Het
Dtx3l A T 16: 35,753,608 (GRCm39) C333S possibly damaging Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Fam171a1 G C 2: 3,179,390 (GRCm39) G72A probably damaging Het
Fbxw17 T C 13: 50,586,390 (GRCm39) probably benign Het
Fry A G 5: 150,393,185 (GRCm39) D605G possibly damaging Het
Fyn T C 10: 39,405,936 (GRCm39) F240S probably benign Het
Gcfc2 T C 6: 81,930,271 (GRCm39) L646P probably damaging Het
Gm5087 C T 14: 13,158,788 (GRCm38) noncoding transcript Het
Got2 T A 8: 96,602,477 (GRCm39) N91I probably benign Het
Hspa4 C T 11: 53,177,802 (GRCm39) V103I possibly damaging Het
Itgad A G 7: 127,792,600 (GRCm39) probably null Het
Krt33a A G 11: 99,904,961 (GRCm39) S182P probably damaging Het
Mcph1 T C 8: 18,721,254 (GRCm39) I694T probably damaging Het
Mmp15 T C 8: 96,097,696 (GRCm39) V502A probably benign Het
Mov10l1 T C 15: 88,867,235 (GRCm39) V23A probably benign Het
Myo9a T A 9: 59,817,900 (GRCm39) N2322K probably damaging Het
Ndst4 A G 3: 125,503,766 (GRCm39) Y11C probably damaging Het
Nell1 T C 7: 49,826,062 (GRCm39) F199S probably damaging Het
Nup210 C T 6: 91,003,951 (GRCm39) V646M probably damaging Het
Nup98 A T 7: 101,845,029 (GRCm39) S13R unknown Het
Nxf1 T C 19: 8,741,293 (GRCm39) I54T possibly damaging Het
Or8b38 A G 9: 37,973,446 (GRCm39) T277A probably damaging Het
Pcdh10 C A 3: 45,338,626 (GRCm39) R928S probably damaging Het
Rfx6 T A 10: 51,588,187 (GRCm39) Y109* probably null Het
Rorc T A 3: 94,304,632 (GRCm39) V339D probably benign Het
Scin T A 12: 40,127,558 (GRCm39) I411F probably benign Het
Serpind1 A G 16: 17,154,758 (GRCm39) Y195C probably damaging Het
Tas2r117 T C 6: 132,780,585 (GRCm39) V241A possibly damaging Het
Tet3 T A 6: 83,363,045 (GRCm39) E709V probably damaging Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Vmn1r212 C A 13: 23,067,304 (GRCm39) G343V unknown Het
Vmn2r42 T A 7: 8,197,837 (GRCm39) K261* probably null Het
Xrcc5 T A 1: 72,379,209 (GRCm39) L438Q probably damaging Het
Zfp142 T C 1: 74,624,608 (GRCm39) N72S probably damaging Het
Zfp292 A T 4: 34,809,755 (GRCm39) S1096R probably damaging Het
Other mutations in Pou3f3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Pou3f3 APN 1 42,737,686 (GRCm39) missense probably benign 0.05
R0800:Pou3f3 UTSW 1 42,737,527 (GRCm39) missense probably damaging 1.00
R2314:Pou3f3 UTSW 1 42,737,651 (GRCm39) missense probably damaging 1.00
R4391:Pou3f3 UTSW 1 42,736,618 (GRCm39) missense unknown
R4529:Pou3f3 UTSW 1 42,737,714 (GRCm39) missense probably benign 0.15
R6536:Pou3f3 UTSW 1 42,737,374 (GRCm39) missense probably damaging 1.00
R7750:Pou3f3 UTSW 1 42,737,308 (GRCm39) missense probably damaging 1.00
R7936:Pou3f3 UTSW 1 42,736,560 (GRCm39) missense unknown
R9293:Pou3f3 UTSW 1 42,736,682 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCGCTAAGCAGTTCAAACAGC -3'
(R):5'- ACCTGCGAGTAGACATCGTC -3'

Sequencing Primer
(F):5'- GTTCAAACAGCGGCGCATC -3'
(R):5'- TAGACATCGTCCGGCGTCTG -3'
Posted On 2016-07-06