Incidental Mutation 'R7072:Pou6f2'
ID548984
Institutional Source Beutler Lab
Gene Symbol Pou6f2
Ensembl Gene ENSMUSG00000009734
Gene NamePOU domain, class 6, transcription factor 2
SynonymsRPF-1, D130006K24Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7072 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location18121098-18397686 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18125169 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 635 (N635S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000176795]
Predicted Effect
SMART Domains Protein: ENSMUSP00000114173
Gene: ENSMUSG00000009734
AA Change: N635S

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
Predicted Effect probably benign
Transcript: ENSMUST00000176795
Meta Mutation Damage Score 0.0712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 122,173,943 L2214Q probably damaging Het
Acbd3 T C 1: 180,726,369 F90L probably benign Het
Ahnak2 T A 12: 112,788,166 Q23L Het
Anpep A T 7: 79,835,379 L620I possibly damaging Het
Bpi T C 2: 158,272,078 S299P probably damaging Het
Bpifa2 A G 2: 154,011,373 D132G probably damaging Het
Brd7 T A 8: 88,346,987 E258D probably benign Het
Btc T C 5: 91,402,937 probably benign Het
Cacna1c A G 6: 118,596,106 V2039A Het
Calm4 T A 13: 3,838,275 V127E probably benign Het
Casp8ap2 T A 4: 32,644,766 S1280T probably damaging Het
Cc2d2b T C 19: 40,760,359 V80A unknown Het
Ccdc33 A G 9: 58,111,984 *279R probably null Het
Cercam T A 2: 29,881,924 H585Q probably benign Het
Cnnm1 A G 19: 43,440,857 D138G probably benign Het
Cox4i2 T C 2: 152,760,653 F89S probably damaging Het
Crb1 G A 1: 139,237,275 T1098I probably damaging Het
Csnk1e C T 15: 79,438,767 probably null Het
Ctsj C A 13: 61,003,083 E187* probably null Het
D730001G18Rik C T 15: 74,772,270 V66M Het
Dagla A T 19: 10,256,295 probably null Het
Dnah7a G A 1: 53,419,753 T3742I probably benign Het
Dnajc6 A C 4: 101,615,615 H381P probably damaging Het
Dyrk3 A T 1: 131,129,728 L236Q probably damaging Het
Edc4 T A 8: 105,888,002 D105E probably damaging Het
Frmd5 A T 2: 121,557,870 L241Q probably damaging Het
Gcc2 A G 10: 58,270,927 T662A probably benign Het
Gins1 C T 2: 150,909,751 probably null Het
Gli3 T A 13: 15,725,695 N1222K possibly damaging Het
Gm15922 C G 7: 3,737,320 A301P probably damaging Het
Gm4302 G T 10: 100,341,659 Q268H unknown Het
Grin2d A T 7: 45,857,498 W518R probably damaging Het
Grm5 A T 7: 88,074,304 I601F probably damaging Het
Gtpbp10 A T 5: 5,546,365 N193K probably benign Het
Igdcc4 T G 9: 65,130,731 V798G probably damaging Het
Igkv8-19 A T 6: 70,341,412 F13I probably benign Het
Kctd11 T A 11: 69,879,795 N139I probably benign Het
Lmo7 G A 14: 101,898,700 probably null Het
Lrrk2 A T 15: 91,801,920 M2155L probably benign Het
Mettl24 A C 10: 40,683,513 H53P probably benign Het
Mier2 A G 10: 79,540,299 M264T unknown Het
Mplkip T C 13: 17,695,537 I18T unknown Het
Mtmr2 T C 9: 13,788,620 V101A probably benign Het
Nbeal2 G T 9: 110,626,051 T2593K probably benign Het
Neu3 A T 7: 99,814,197 C106* probably null Het
Nutm1 T C 2: 112,251,847 T295A probably benign Het
Olfr753-ps1 A G 17: 37,170,378 I90T probably benign Het
Pcdhga7 G T 18: 37,717,276 V779L probably benign Het
Pde10a A G 17: 8,943,026 E231G probably benign Het
Plcg2 T A 8: 117,589,835 probably null Het
Pofut2 T C 10: 77,259,429 L36P probably benign Het
Pramef17 A C 4: 143,994,128 I81R probably damaging Het
Ptpra T C 2: 130,553,430 Y818H probably damaging Het
Rad18 T C 6: 112,681,440 E168G probably benign Het
Rev1 C A 1: 38,067,545 E634* probably null Het
Sec24d A G 3: 123,330,351 D403G probably damaging Het
Sema5a C A 15: 32,574,959 H404Q possibly damaging Het
Shank1 A G 7: 44,344,946 S844G unknown Het
Slc32a1 T A 2: 158,611,496 Y85* probably null Het
Slc39a4 T C 15: 76,613,258 T485A probably damaging Het
Sp5 A C 2: 70,476,730 Q253P probably benign Het
Sspo A T 6: 48,454,979 D709V probably damaging Het
Sucnr1 A G 3: 60,086,183 Y44C probably damaging Het
Taar8b A G 10: 24,091,978 L106P possibly damaging Het
Tbc1d9 A G 8: 83,264,865 D922G probably damaging Het
Tbx6 A T 7: 126,784,740 D322V probably benign Het
Tex15 T A 8: 33,575,431 S1630T possibly damaging Het
Ube2o G A 11: 116,541,501 P880S probably benign Het
Uck1 C T 2: 32,258,166 R182Q probably damaging Het
Utrn T A 10: 12,465,213 H2840L probably damaging Het
Vps8 A G 16: 21,581,579 T1266A probably benign Het
Wnk1 A T 6: 119,937,861 I1909N unknown Het
Zfp352 C T 4: 90,224,424 T267I probably benign Het
Zfp773 A T 7: 7,132,875 C241S probably benign Het
Zfp934 T C 13: 62,520,525 D8G 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
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
R6805:Pou6f2 UTSW 13 18239489 missense
R6978:Pou6f2 UTSW 13 18172478 missense probably damaging 1.00
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'- GACACGTATAAACCATTCTGCC -3'
(R):5'- CAATGCCCACTTTGAGAAGAAC -3'

Sequencing Primer
(F):5'- ACGTATAAACCATTCTGCCCATTTGG -3'
(R):5'- TTTGAGAAGAACACACACCCCTCAG -3'
Posted On2019-05-15