Incidental Mutation 'PIT4519001:Pou6f2'
ID555134
Institutional Source Beutler Lab
Gene Symbol Pou6f2
Ensembl Gene ENSMUSG00000009734
Gene NamePOU domain, class 6, transcription factor 2
SynonymsRPF-1, D130006K24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #PIT4519001 (G1)
Quality Score161.009
Status Not validated
Chromosome13
Chromosomal Location18121098-18397686 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18239564 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 209 (S209P)
Gene Model predicted gene model for transcript(s):
Predicted Effect unknown
Transcript: ENSMUST00000139064
AA Change: S209P
SMART Domains Protein: ENSMUSP00000114173
Gene: ENSMUSG00000009734
AA Change: S209P

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 unknown
Transcript: ENSMUST00000175703
AA Change: S209P
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 90.9%
  • 10x: 84.7%
  • 20x: 70.8%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,170,666 M803K probably benign Het
4930590J08Rik C A 6: 91,917,057 N218K probably damaging Het
Abcc2 G A 19: 43,819,397 V826M possibly damaging Het
Abcg2 T C 6: 58,674,807 S395P probably damaging Het
Adam1b C T 5: 121,501,947 G345D probably damaging Het
Alx4 T A 2: 93,675,428 C292S probably benign Het
Amd2 C A 10: 35,710,631 C310F possibly damaging Het
BC051665 A T 13: 60,784,175 S137T possibly damaging Het
Bmp1 A G 14: 70,490,029 F705L possibly damaging Het
Coil C T 11: 88,972,726 probably benign Het
Col6a6 G A 9: 105,732,263 P1609S probably benign Het
Cpt1b A T 15: 89,418,863 F633I probably damaging Het
Dcun1d2 A T 8: 13,261,406 D194E probably benign Het
Defb4 A G 8: 19,198,736 R2G possibly damaging Het
Dll4 T C 2: 119,332,416 V506A probably benign Het
Dopey2 A G 16: 93,762,054 S563G probably benign Het
Dpp7 C A 2: 25,352,448 G498W probably damaging Het
Fam210a A T 18: 68,275,949 S97T possibly damaging Het
Fastkd1 T A 2: 69,690,157 D767V probably damaging Het
Fgg A T 3: 83,012,939 N342Y probably damaging Het
Gimap6 T G 6: 48,708,061 R30S probably benign Het
Gm10840 T C 11: 106,161,133 V95A unknown Het
Herc3 T A 6: 58,876,811 I614N probably damaging Het
Kdr A T 5: 75,936,896 S1233R possibly damaging Het
Lrp1 C G 10: 127,607,974 Q141H possibly damaging Het
Magi2 A T 5: 20,661,346 K1078N probably damaging Het
Meioc A T 11: 102,679,957 E838V probably damaging Het
Mmp20 A G 9: 7,628,301 K17E probably benign Het
Mtor C T 4: 148,524,500 R1538W probably damaging Het
Notch2 C T 3: 98,098,108 T296I probably damaging Het
Nup98 T C 7: 102,134,964 S1054G probably benign Het
Olfr1463 A C 19: 13,234,852 I201L probably benign Het
Olfr308 T C 7: 86,321,733 Y73C probably damaging Het
Olfr446 T C 6: 42,927,644 C138R probably damaging Het
Olfr455 T C 6: 42,538,600 T141A probably damaging Het
Pipox C A 11: 77,883,175 W205L probably damaging Het
Plin4 T G 17: 56,103,828 T1068P probably benign Het
Ptpdc1 T C 13: 48,583,156 T713A probably benign Het
Rgsl1 T C 1: 153,825,970 Y246C possibly damaging Het
Rnf19b C T 4: 129,075,653 A354V probably damaging Het
Rsph4a A G 10: 33,909,130 T346A probably benign Het
Rsrc2 T C 5: 123,745,072 T16A unknown Het
Scrn3 T C 2: 73,318,424 V113A possibly damaging Het
Scrn3 T A 2: 73,331,003 I311K possibly damaging Het
Sfmbt1 T C 14: 30,784,191 probably null Het
Sin3a A G 9: 57,095,456 I211V possibly damaging Het
Strn3 T C 12: 51,633,708 T370A probably benign Het
Sulf1 T G 1: 12,848,171 N786K probably damaging Het
Taf1b T A 12: 24,547,119 Y352* probably null Het
Tas2r120 T A 6: 132,657,334 N126K probably benign Het
Tjap1 C A 17: 46,261,506 R68L probably benign Het
Tnfsf12 C T 11: 69,695,404 R66Q probably benign Het
Traj45 A G 14: 54,172,846 D6G Het
Trappc9 T C 15: 72,953,094 T541A probably benign Het
Ttc29 A C 8: 78,325,477 E329A probably benign Het
Vmn1r117 T G 7: 20,883,235 D296A possibly damaging Het
Vmn1r203 A G 13: 22,524,595 N182S probably benign Het
Vps53 C A 11: 76,117,173 R287L probably damaging Het
Vwce G A 19: 10,664,582 E891K possibly damaging Het
Zfp608 T C 18: 54,946,711 N334S possibly damaging Het
Zfp648 A G 1: 154,204,941 H282R probably damaging 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
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
R6805:Pou6f2 UTSW 13 18239489 missense
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
Predicted Primers PCR Primer
(F):5'- GATGCTATGTCTTGCTGGCC -3'
(R):5'- TGAACTCCCAGCTGCAACAG -3'

Sequencing Primer
(F):5'- CTTCTGCCTGTGGGGACTGTAC -3'
(R):5'- GCAACTCCAGCTGCAACAG -3'
Posted On2019-06-07