Incidental Mutation 'R1054:Pou3f2'
ID94169
Institutional Source Beutler Lab
Gene Symbol Pou3f2
Ensembl Gene ENSMUSG00000095139
Gene NamePOU domain, class 3, transcription factor 2
SynonymsOtf7, Brn-2, Brn2, A230098E07Rik, 9430075J19Rik
MMRRC Submission 039144-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1054 (G1)
Quality Score213
Status Not validated
Chromosome4
Chromosomal Location22482780-22488366 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 22487536 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000136147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178174]
Predicted Effect possibly damaging
Transcript: ENSMUST00000178174
AA Change: V199A

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136147
Gene: ENSMUSG00000095139
AA Change: V199A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,751,559 T159A probably benign Het
Arhgef38 T C 3: 133,116,465 Y763C probably damaging Het
Arv1 T A 8: 124,731,872 F245Y probably benign Het
Ccdc175 A G 12: 72,178,544 I113T possibly damaging Het
Cdc42bpb A T 12: 111,313,353 M932K probably benign Het
Cdh15 T C 8: 122,864,337 F442L possibly damaging Het
Col28a1 C T 6: 8,175,534 D105N probably damaging Het
Cpne4 A G 9: 105,022,401 T428A probably benign Het
Cramp1l T A 17: 24,983,177 I444F probably damaging Het
Dhx32 T A 7: 133,725,272 K360M probably damaging Het
Dna2 T A 10: 62,963,823 C669S possibly damaging Het
Dusp8 ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC 7: 142,082,067 probably benign Het
Eif3f G A 7: 108,937,817 probably null Het
Elmod1 T C 9: 53,912,774 D310G probably benign Het
Fam105a T C 15: 27,664,549 R79G probably damaging Het
Fn1 A G 1: 71,586,214 *2272Q probably null Het
Gm12800 A G 4: 101,909,164 E15G probably benign Het
Gm8765 T C 13: 50,702,396 V690A probably benign Het
Gnat1 A G 9: 107,677,439 S76P probably damaging Het
Gtf2f2 T C 14: 75,995,445 T94A probably benign Het
Hacd4 A T 4: 88,423,027 W152R probably damaging Het
Kcnh8 A G 17: 52,803,484 Y241C probably damaging Het
Lepr T C 4: 101,782,596 I753T probably damaging Het
Med12l C T 3: 59,248,651 H1162Y probably damaging Het
Med25 C T 7: 44,880,380 A485T probably benign Het
Mup5 A T 4: 61,832,634 S145R probably benign Het
Myo1g A G 11: 6,518,987 V105A probably damaging Het
Npc2 A G 12: 84,760,718 probably null Het
Olfr414 A G 1: 174,430,853 T142A probably benign Het
Olfr648 A G 7: 104,180,291 I39T probably benign Het
Pdzd2 A G 15: 12,371,639 S2557P probably damaging Het
Pop1 T C 15: 34,509,809 V353A probably benign Het
Ptprm A T 17: 67,042,318 N43K probably damaging Het
Qrsl1 C T 10: 43,882,081 D339N probably damaging Het
Rpl13-ps3 C A 14: 58,893,945 noncoding transcript Het
Sdk2 C T 11: 113,838,646 silent Het
Sdr16c6 A G 4: 4,069,908 V144A probably damaging Het
Spata31d1b C A 13: 59,717,518 H827N probably damaging Het
Taf4b T A 18: 14,821,473 H535Q probably benign Het
Timmdc1 A G 16: 38,522,428 V36A probably benign Het
Tmem74b C T 2: 151,706,419 A22V probably benign Het
Txnrd3 T A 6: 89,650,561 Y65* probably null Het
Vmn1r200 T A 13: 22,395,454 S133R probably damaging Het
Vwf G A 6: 125,590,227 C311Y probably damaging Het
Wipf2 G A 11: 98,896,315 R390H possibly damaging Het
Zfp282 T A 6: 47,904,599 S407T probably benign Het
Other mutations in Pou3f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02325:Pou3f2 APN 4 22487020 missense probably damaging 1.00
PIT4260001:Pou3f2 UTSW 4 22487291 missense possibly damaging 0.59
R0141:Pou3f2 UTSW 4 22487210 missense possibly damaging 0.91
R0739:Pou3f2 UTSW 4 22486960 missense possibly damaging 0.88
R1163:Pou3f2 UTSW 4 22487697 small deletion probably benign
R1351:Pou3f2 UTSW 4 22487162 missense probably damaging 0.99
R1482:Pou3f2 UTSW 4 22486960 missense possibly damaging 0.83
R1708:Pou3f2 UTSW 4 22487255 missense possibly damaging 0.85
R1865:Pou3f2 UTSW 4 22486917 nonsense probably null
R1918:Pou3f2 UTSW 4 22487119 missense probably damaging 0.98
R1919:Pou3f2 UTSW 4 22487119 missense probably damaging 0.98
R2071:Pou3f2 UTSW 4 22488076 missense probably benign 0.07
R4985:Pou3f2 UTSW 4 22487588 missense probably benign 0.26
R5210:Pou3f2 UTSW 4 22487324 missense probably damaging 1.00
R6174:Pou3f2 UTSW 4 22486960 missense possibly damaging 0.88
R7134:Pou3f2 UTSW 4 22486874 missense probably benign 0.00
R7197:Pou3f2 UTSW 4 22487288 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGAATTGCTTGGCGAACTGCTCC -3'
(R):5'- ATCAAGCCCTCGGTGGTGGTACAG -3'

Sequencing Primer
(F):5'- GAACTGCTCCAGGTCGTC -3'
(R):5'- gcagcaacagcatcaacag -3'
Posted On2014-01-05