Incidental Mutation 'R0739:Pou3f2'
ID 70614
Institutional Source Beutler Lab
Gene Symbol Pou3f2
Ensembl Gene ENSMUSG00000095139
Gene Name POU domain, class 3, transcription factor 2
Synonyms Brn2, 9430075J19Rik, Otf7, A230098E07Rik, Brn-2
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 22482780-22488366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22486960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 391 (D391G)
Ref Sequence ENSEMBL: ENSMUSP00000136147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178174]
AlphaFold P31360
Predicted Effect possibly damaging
Transcript: ENSMUST00000178174
AA Change: D391G

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136147
Gene: ENSMUSG00000095139
AA Change: D391G

DomainStartEndE-ValueType
coiled coil region 122 152 N/A INTRINSIC
low complexity region 158 169 N/A INTRINSIC
low complexity region 220 261 N/A INTRINSIC
POU 264 338 9.06e-54 SMART
HOX 356 418 4.2e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203909
Meta Mutation Damage Score 0.1378 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous mutation of this gene results in lethality by 10 days of age. Mutant animals are growth retarded, have hyperkeratotic, flaky skin, and exhibit loss of the posterior pituitary and disruption of late endocrine hypothalamic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S probably damaging Het
Other mutations in Pou3f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Pou3f2 APN 4 22,487,020 (GRCm39) missense probably damaging 1.00
PIT4260001:Pou3f2 UTSW 4 22,487,291 (GRCm39) missense possibly damaging 0.59
R0141:Pou3f2 UTSW 4 22,487,210 (GRCm39) missense possibly damaging 0.91
R1054:Pou3f2 UTSW 4 22,487,536 (GRCm39) missense possibly damaging 0.85
R1163:Pou3f2 UTSW 4 22,487,697 (GRCm39) small deletion probably benign
R1351:Pou3f2 UTSW 4 22,487,162 (GRCm39) missense probably damaging 0.99
R1482:Pou3f2 UTSW 4 22,486,960 (GRCm39) missense possibly damaging 0.83
R1708:Pou3f2 UTSW 4 22,487,255 (GRCm39) missense possibly damaging 0.85
R1865:Pou3f2 UTSW 4 22,486,917 (GRCm39) nonsense probably null
R1918:Pou3f2 UTSW 4 22,487,119 (GRCm39) missense probably damaging 0.98
R1919:Pou3f2 UTSW 4 22,487,119 (GRCm39) missense probably damaging 0.98
R2071:Pou3f2 UTSW 4 22,488,076 (GRCm39) missense probably benign 0.07
R4985:Pou3f2 UTSW 4 22,487,588 (GRCm39) missense probably benign 0.26
R5210:Pou3f2 UTSW 4 22,487,324 (GRCm39) missense probably damaging 1.00
R6174:Pou3f2 UTSW 4 22,486,960 (GRCm39) missense possibly damaging 0.88
R7134:Pou3f2 UTSW 4 22,486,874 (GRCm39) missense probably benign 0.00
R7197:Pou3f2 UTSW 4 22,487,288 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCCAGGAAAGACTGTGGACCAAAG -3'
(R):5'- TGGAAGAGGCAGACTCATCCTCGG -3'

Sequencing Primer
(F):5'- GAGCCCCAAGCTCTGCC -3'
(R):5'- ACTCATCCTCGGGCAGC -3'
Posted On 2013-09-30