Incidental Mutation 'R1054:Pou3f2'
ID 94169
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 039144-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1054 (G1)
Quality Score 213
Status Not validated
Chromosome 4
Chromosomal Location 22482780-22488366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22487536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000136147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178174]
AlphaFold P31360
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: 76,635,759 (GRCm39) T159A probably benign Het
Arhgef38 T C 3: 132,822,226 (GRCm39) Y763C probably damaging Het
Arv1 T A 8: 125,458,611 (GRCm39) F245Y probably benign Het
Ccdc175 A G 12: 72,225,318 (GRCm39) I113T possibly damaging Het
Cdc42bpb A T 12: 111,279,787 (GRCm39) M932K probably benign Het
Cdh15 T C 8: 123,591,076 (GRCm39) F442L possibly damaging Het
Col28a1 C T 6: 8,175,534 (GRCm39) D105N probably damaging Het
Cpne4 A G 9: 104,899,600 (GRCm39) T428A probably benign Het
Cramp1 T A 17: 25,202,151 (GRCm39) I444F probably damaging Het
Dhx32 T A 7: 133,327,001 (GRCm39) K360M probably damaging Het
Dna2 T A 10: 62,799,602 (GRCm39) C669S possibly damaging Het
Dusp8 ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC 7: 141,635,804 (GRCm39) probably benign Het
Eif3f G A 7: 108,537,024 (GRCm39) probably null Het
Elmod1 T C 9: 53,820,058 (GRCm39) D310G probably benign Het
Fn1 A G 1: 71,625,373 (GRCm39) *2272Q probably null Het
Gnat1 A G 9: 107,554,638 (GRCm39) S76P probably damaging Het
Gtf2f2 T C 14: 76,232,885 (GRCm39) T94A probably benign Het
Hacd4 A T 4: 88,341,264 (GRCm39) W152R probably damaging Het
Kcnh8 A G 17: 53,110,512 (GRCm39) Y241C probably damaging Het
Lepr T C 4: 101,639,793 (GRCm39) I753T probably damaging Het
Med12l C T 3: 59,156,072 (GRCm39) H1162Y probably damaging Het
Med25 C T 7: 44,529,804 (GRCm39) A485T probably benign Het
Mup5 A T 4: 61,750,871 (GRCm39) S145R probably benign Het
Myo1g A G 11: 6,468,987 (GRCm39) V105A probably damaging Het
Npc2 A G 12: 84,807,492 (GRCm39) probably null Het
Or52h1 A G 7: 103,829,498 (GRCm39) I39T probably benign Het
Or6p1 A G 1: 174,258,419 (GRCm39) T142A probably benign Het
Otulinl T C 15: 27,664,635 (GRCm39) R79G probably damaging Het
Pdzd2 A G 15: 12,371,725 (GRCm39) S2557P probably damaging Het
Pop1 T C 15: 34,509,955 (GRCm39) V353A probably benign Het
Pramel18 A G 4: 101,766,361 (GRCm39) E15G probably benign Het
Ptprm A T 17: 67,349,313 (GRCm39) N43K probably damaging Het
Qrsl1 C T 10: 43,758,077 (GRCm39) D339N probably damaging Het
Rpl13-ps3 C A 14: 59,131,394 (GRCm39) noncoding transcript Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sdr16c6 A G 4: 4,069,908 (GRCm39) V144A probably damaging Het
Spata31d1b C A 13: 59,865,332 (GRCm39) H827N probably damaging Het
Spata31e4 T C 13: 50,856,432 (GRCm39) V690A probably benign Het
Taf4b T A 18: 14,954,530 (GRCm39) H535Q probably benign Het
Timmdc1 A G 16: 38,342,790 (GRCm39) V36A probably benign Het
Tmem74b C T 2: 151,548,339 (GRCm39) A22V probably benign Het
Txnrd3 T A 6: 89,627,543 (GRCm39) Y65* probably null Het
Vmn1r200 T A 13: 22,579,624 (GRCm39) S133R probably damaging Het
Vwf G A 6: 125,567,190 (GRCm39) C311Y probably damaging Het
Wipf2 G A 11: 98,787,141 (GRCm39) R390H possibly damaging Het
Zfp282 T A 6: 47,881,533 (GRCm39) S407T probably benign 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
R0739:Pou3f2 UTSW 4 22,486,960 (GRCm39) missense possibly damaging 0.88
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'- TGAATTGCTTGGCGAACTGCTCC -3'
(R):5'- ATCAAGCCCTCGGTGGTGGTACAG -3'

Sequencing Primer
(F):5'- GAACTGCTCCAGGTCGTC -3'
(R):5'- gcagcaacagcatcaacag -3'
Posted On 2014-01-05