Incidental Mutation 'R6805:Pou6f2'
ID 533551
Institutional Source Beutler Lab
Gene Symbol Pou6f2
Ensembl Gene ENSMUSG00000009734
Gene Name POU domain, class 6, transcription factor 2
Synonyms RPF-1, D130006K24Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R6805 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 18121098-18397686 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18239489 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 234 (T234A)
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000114173
Gene: ENSMUSG00000009734
AA Change: T234A

DomainStartEndE-ValueType
low complexity region 67 79 N/A INTRINSIC
coiled coil region 107 143 N/A INTRINSIC
low complexity region 248 266 N/A INTRINSIC
POU 422 532 9.61e-26 SMART
HOX 553 615 3.01e-21 SMART
Predicted Effect
Meta Mutation Damage Score 0.1112 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and of normal size with no apparent phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,244,306 V2591A probably benign Het
4930407I10Rik A G 15: 82,062,543 T214A possibly damaging Het
A930009A15Rik G T 10: 115,579,905 probably benign Het
Aadac A C 3: 60,037,336 D143A probably benign Het
Acot10 T G 15: 20,665,366 T430P probably benign Het
Adgrb3 T C 1: 25,826,172 T197A possibly damaging Het
B230118H07Rik T C 2: 101,566,459 K192E probably benign Het
Bbs1 A G 19: 4,900,615 I200T probably damaging Het
C1ra G A 6: 124,517,725 E316K probably benign Het
Cadps G A 14: 12,467,103 A943V probably damaging Het
Cc2d2a A G 5: 43,681,331 E48G probably damaging Het
Clca1 A T 3: 145,018,667 C211S probably damaging Het
Col18a1 A G 10: 77,054,239 L1429P probably damaging Het
Cul2 T G 18: 3,421,263 Y196D probably damaging Het
D630023F18Rik T C 1: 65,117,206 S43G probably benign Het
Ddx39 G A 8: 83,723,137 R427Q probably damaging Het
Def6 A G 17: 28,223,717 T285A probably damaging Het
Defb21 T A 2: 152,574,869 D88E probably benign Het
Defb6 A G 8: 19,228,101 K63R probably benign Het
Dnph1 T C 17: 46,498,744 S112P probably damaging Het
Dock10 T A 1: 80,586,690 I467L probably benign Het
Dspp C A 5: 104,175,850 H286Q probably benign Het
Eya1 T A 1: 14,183,277 T459S probably benign Het
Faf1 T C 4: 109,861,852 L385P probably damaging Het
Fbxw21 C A 9: 109,157,565 R82L probably damaging Het
Fryl A G 5: 73,065,094 V2048A probably benign Het
Galnt5 A T 2: 58,035,299 D864V possibly damaging Het
Gata6 T G 18: 11,054,460 S130A possibly damaging Het
Gbf1 G T 19: 46,262,507 R434L probably damaging Het
Gga3 A G 11: 115,585,762 F709L probably damaging Het
Hcar1 A G 5: 123,879,130 V166A probably benign Het
Hexa T A 9: 59,563,937 N491K possibly damaging Het
Hpse2 A T 19: 43,294,321 C164* probably null Het
Ifi202b T C 1: 173,974,989 Y93C probably damaging Het
Iscu T A 5: 113,775,243 I79N probably damaging Het
Jmjd7 T A 2: 120,031,323 Y182* probably null Het
Jup A T 11: 100,383,458 D135E probably benign Het
Kit T A 5: 75,652,808 I881N probably damaging Het
Llgl1 T A 11: 60,702,865 S55T probably benign Het
Lonp2 G A 8: 86,709,096 M653I probably benign Het
Lrp8 T C 4: 107,854,320 Y307H probably damaging Het
Med13 A T 11: 86,278,796 M1914K possibly damaging Het
Ms4a1 A G 19: 11,253,173 probably null Het
Naip1 A G 13: 100,427,341 S439P probably benign Het
Nrg1 T C 8: 31,821,264 R476G probably damaging Het
Olfr1129 T A 2: 87,574,918 probably null Het
Olfr835 G T 9: 19,035,301 M59I probably damaging Het
Pds5b T A 5: 150,805,561 probably null Het
Phf12 G A 11: 78,027,373 G804R probably damaging Het
Prune2 A T 19: 17,120,590 I1153L probably benign Het
Ptprc C T 1: 138,067,885 probably null Het
Qpctl T C 7: 19,149,154 Q11R probably benign Het
Rfx4 A G 10: 84,840,228 K103E possibly damaging Het
Srcin1 T A 11: 97,551,980 probably null Het
St6galnac1 G T 11: 116,768,944 A181D probably damaging Het
Stk36 T C 1: 74,622,239 V475A probably benign Het
Tbc1d21 T C 9: 58,361,288 T263A possibly damaging Het
Tex24 A T 8: 27,345,000 K185N probably damaging Het
Tnxb T A 17: 34,698,153 V2174E possibly damaging Het
Tollip A G 7: 141,890,845 S57P probably benign Het
Zbtb49 A G 5: 38,213,241 probably benign Het
Zfp758 A G 17: 22,361,669 T30A probably benign Het
Other mutations in Pou6f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Pou6f2 APN 13 18139585 missense probably damaging 1.00
IGL03046:Pou6f2 UTSW 13 18129027 utr 3 prime probably benign
PIT4402001:Pou6f2 UTSW 13 18125346 missense
PIT4519001:Pou6f2 UTSW 13 18239564 missense unknown
R0349:Pou6f2 UTSW 13 18152004 missense probably damaging 1.00
R0510:Pou6f2 UTSW 13 18139723 splice site probably benign
R1449:Pou6f2 UTSW 13 18172415 missense probably damaging 1.00
R1911:Pou6f2 UTSW 13 18151963 missense probably damaging 0.98
R2971:Pou6f2 UTSW 13 18381967 missense unknown
R5193:Pou6f2 UTSW 13 18125544 utr 3 prime probably benign
R5218:Pou6f2 UTSW 13 18152001 missense probably damaging 1.00
R6226:Pou6f2 UTSW 13 18129154 missense possibly damaging 0.83
R6747:Pou6f2 UTSW 13 18129187 missense probably benign 0.26
R6978:Pou6f2 UTSW 13 18172478 missense probably damaging 1.00
R7072:Pou6f2 UTSW 13 18125169 missense
R7158:Pou6f2 UTSW 13 18152038 missense
R7187:Pou6f2 UTSW 13 18239713 missense
R7198:Pou6f2 UTSW 13 18129163 missense probably damaging 0.97
R7203:Pou6f2 UTSW 13 18239794 missense unknown
R7241:Pou6f2 UTSW 13 18125289 missense
R7307:Pou6f2 UTSW 13 18239713 missense
R7827:Pou6f2 UTSW 13 18378507 missense
R7895:Pou6f2 UTSW 13 18125448 missense
R8070:Pou6f2 UTSW 13 18239624 missense unknown
R8207:Pou6f2 UTSW 13 18239573 missense
R8334:Pou6f2 UTSW 13 18125406 missense probably damaging 1.00
R8680:Pou6f2 UTSW 13 18239611 missense unknown
R8830:Pou6f2 UTSW 13 18378498 missense
R9203:Pou6f2 UTSW 13 18129030 missense
R9462:Pou6f2 UTSW 13 18139604 missense probably benign 0.03
R9632:Pou6f2 UTSW 13 18125263 missense
R9709:Pou6f2 UTSW 13 18239804 missense unknown
Z1176:Pou6f2 UTSW 13 18378635 missense unknown
Predicted Primers PCR Primer
(F):5'- TCGTTCACATGCATCCCCAG -3'
(R):5'- TGAACTCCCAGCTGCAACAG -3'

Sequencing Primer
(F):5'- ATGCATCCCCAGCTGCCTG -3'
(R):5'- TGCCTCACAGCAGTTGC -3'
Posted On 2018-09-12