Incidental Mutation 'R2314:Pou3f3'
ID 245392
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2314 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 42734928-42739370 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42737651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 449 (V449A)
Ref Sequence ENSEMBL: ENSMUSP00000052088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054883]
AlphaFold P31361
Predicted Effect probably damaging
Transcript: ENSMUST00000054883
AA Change: V449A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052088
Gene: ENSMUSG00000045515
AA Change: V449A

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: ENSMUST00000188153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199521
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A G 9: 4,309,322 (GRCm39) S39P probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Anxa6 T A 11: 54,902,561 (GRCm39) I58F probably damaging Het
Ccdc30 T A 4: 119,181,763 (GRCm39) K582* probably null Het
Cebpz A G 17: 79,227,976 (GRCm39) probably null Het
Clstn3 T A 6: 124,427,676 (GRCm39) D473V probably benign Het
Cry1 A T 10: 84,969,175 (GRCm39) C550S probably benign Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dolk G T 2: 30,175,497 (GRCm39) L183M probably damaging Het
Dpys T C 15: 39,691,486 (GRCm39) T279A possibly damaging Het
Drd4 T C 7: 140,873,854 (GRCm39) Y140H probably damaging Het
Duox1 C A 2: 122,164,211 (GRCm39) C890* probably null Het
Epha2 T A 4: 141,046,325 (GRCm39) V508E probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fahd1 A T 17: 25,068,570 (GRCm39) I169N probably damaging Het
Fgfr1 C T 8: 26,060,909 (GRCm39) S527F probably damaging Het
Flywch1 A G 17: 23,982,000 (GRCm39) V68A probably benign Het
Gm21834 A T 17: 58,049,210 (GRCm39) V2E possibly damaging Het
Gm7853 A T 14: 35,811,621 (GRCm39) noncoding transcript Het
Igf2r T A 17: 12,934,830 (GRCm39) H713L probably benign Het
Iqgap3 T C 3: 88,023,338 (GRCm39) V543A probably benign Het
Kcnq5 T A 1: 21,549,595 (GRCm39) probably null Het
Lsm1 C T 8: 26,275,712 (GRCm39) P5S possibly damaging Het
Marchf1 T C 8: 66,574,442 (GRCm39) M1T probably null Het
Myocd T C 11: 65,091,633 (GRCm39) H103R probably damaging Het
Myom2 C T 8: 15,113,927 (GRCm39) T25I probably damaging Het
Nck1 T C 9: 100,380,003 (GRCm39) K83E probably damaging Het
Nid2 A G 14: 19,839,829 (GRCm39) D806G probably benign Het
Onecut2 G T 18: 64,474,268 (GRCm39) R254L probably damaging Het
Or51k1 T A 7: 103,661,436 (GRCm39) M158L probably benign Het
Plxna1 A C 6: 89,301,298 (GRCm39) L1534R probably damaging Het
Polb C A 8: 23,130,018 (GRCm39) A185S possibly damaging Het
Pskh1 C T 8: 106,640,145 (GRCm39) T275I probably damaging Het
Rab18 C A 18: 6,788,516 (GRCm39) A161D probably damaging Het
Rrp8 T C 7: 105,384,011 (GRCm39) R164G probably benign Het
Sacs T A 14: 61,445,208 (GRCm39) I2418K probably benign Het
Scrn1 T C 6: 54,502,631 (GRCm39) E136G probably benign Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Slitrk6 C T 14: 110,989,387 (GRCm39) A107T probably damaging Het
Spata31e2 T C 1: 26,723,783 (GRCm39) S466G probably benign Het
Tktl2 T A 8: 66,965,795 (GRCm39) F451Y probably damaging Het
Tnks1bp1 G A 2: 84,889,259 (GRCm39) V529M probably benign Het
Trps1 T C 15: 50,524,742 (GRCm39) K874E probably damaging Het
Ttll9 T A 2: 152,825,047 (GRCm39) D75E probably benign Het
Ttn A G 2: 76,596,368 (GRCm39) Y20182H probably damaging Het
Ufc1 A T 1: 171,116,821 (GRCm39) C116S probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zfp809 A G 9: 22,149,976 (GRCm39) K158E possibly damaging Het
Zfp81 A G 17: 33,553,597 (GRCm39) Y406H 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
R4391:Pou3f3 UTSW 1 42,736,618 (GRCm39) missense unknown
R4529:Pou3f3 UTSW 1 42,737,714 (GRCm39) missense probably benign 0.15
R5233:Pou3f3 UTSW 1 42,737,438 (GRCm39) missense probably benign 0.17
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'- CATTGACAAGATCGCAGCGC -3'
(R):5'- AAGAGTCTCATCGGTCTCCAG -3'

Sequencing Primer
(F):5'- TCCTCAAGTGCCCTAAAC -3'
(R):5'- CGTGGCACGCCTGTCTTTG -3'
Posted On 2014-10-30