Incidental Mutation 'R9462:Pou6f2'
ID 714960
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
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9462 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 18295683-18572271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18314189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 395 (S395P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000176795] [ENSMUST00000184299]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000139064
AA Change: S395P

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114173
Gene: ENSMUSG00000009734
AA Change: S395P

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
Predicted Effect probably benign
Transcript: ENSMUST00000184299
AA Change: S139P

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000138840
Gene: ENSMUSG00000009734
AA Change: S139P

DomainStartEndE-ValueType
low complexity region 135 157 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,092,964 (GRCm39) T220I probably benign Het
Abca8b T A 11: 109,844,433 (GRCm39) H928L Het
Ahnak A T 19: 8,981,299 (GRCm39) D861V probably damaging Het
Ahnak2 C A 12: 112,750,655 (GRCm39) R89L Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Anks6 A G 4: 47,033,142 (GRCm39) L573P unknown Het
Ano5 T C 7: 51,235,200 (GRCm39) V711A probably benign Het
Arl2bp C A 8: 95,398,755 (GRCm39) A120D probably damaging Het
Asap1 A G 15: 64,038,328 (GRCm39) Y223H probably damaging Het
Atp7b A T 8: 22,490,160 (GRCm39) M1151K probably damaging Het
B4galnt3 A T 6: 120,271,438 (GRCm39) L28Q probably null Het
Ccdc39 T C 3: 33,868,519 (GRCm39) K856E probably benign Het
Ccr9 A G 9: 123,608,600 (GRCm39) D94G probably damaging Het
Cdan1 A G 2: 120,560,060 (GRCm39) I368T possibly damaging Het
Cdhr17 G T 5: 17,027,213 (GRCm39) A379S Het
Cfap54 T C 10: 92,737,920 (GRCm39) Q2326R unknown Het
Chrm3 T C 13: 9,927,437 (GRCm39) Y533C Het
Ckap4 C T 10: 84,363,924 (GRCm39) E380K possibly damaging Het
Cntnap2 T C 6: 46,211,217 (GRCm39) F544L probably damaging Het
Cwh43 A G 5: 73,591,695 (GRCm39) K596R probably benign Het
Cyp26c1 A G 19: 37,681,634 (GRCm39) E479G probably damaging Het
Deup1 A G 9: 15,493,882 (GRCm39) V420A probably benign Het
Dnah3 A G 7: 119,551,523 (GRCm39) V2932A probably benign Het
Dthd1 G A 5: 63,039,626 (GRCm39) R676H probably benign Het
Eef1e1 A G 13: 38,838,997 (GRCm39) L120P probably damaging Het
Elane T C 10: 79,723,883 (GRCm39) S244P probably benign Het
Esp6 A G 17: 40,876,315 (GRCm39) E121G probably benign Het
Eya1 T C 1: 14,299,775 (GRCm39) E326G probably damaging Het
Fut2 G T 7: 45,300,492 (GRCm39) N93K probably damaging Het
Garin5b A G 7: 4,761,330 (GRCm39) S461P Het
Gm12695 A G 4: 96,651,075 (GRCm39) V126A probably benign Het
Gucy2g A G 19: 55,221,469 (GRCm39) probably null Het
Hbs1l T C 10: 21,218,304 (GRCm39) V267A probably damaging Het
Hsd17b1 A T 11: 100,969,806 (GRCm39) N106I possibly damaging Het
Ino80d G A 1: 63,097,393 (GRCm39) L939F probably damaging Het
Lilra6 A G 7: 3,914,994 (GRCm39) W505R probably damaging Het
Map3k14 T A 11: 103,118,360 (GRCm39) K609* probably null Het
Mark1 T A 1: 184,651,868 (GRCm39) K212N probably damaging Het
Muc5b T A 7: 141,415,216 (GRCm39) C2721S Het
Myh4 A G 11: 67,141,811 (GRCm39) D890G possibly damaging Het
Mylk2 T G 2: 152,761,373 (GRCm39) L492R probably damaging Het
Myt1 T A 2: 181,467,729 (GRCm39) Y1134* probably null Het
N4bp2 G A 5: 65,947,898 (GRCm39) G176D probably benign Het
Ncstn A C 1: 171,899,707 (GRCm39) M325R probably damaging Het
Ndor1 C T 2: 25,144,875 (GRCm39) probably null Het
Notch4 G A 17: 34,806,667 (GRCm39) R1868H probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or2b2b A T 13: 21,859,015 (GRCm39) V33E probably benign Het
Or8s16 T A 15: 98,211,186 (GRCm39) N82Y possibly damaging Het
Oxct2a G T 4: 123,216,441 (GRCm39) D313E probably damaging Het
Pcdha2 T A 18: 37,073,546 (GRCm39) H392Q probably benign Het
Pcdhb20 T G 18: 37,639,799 (GRCm39) L775R probably benign Het
Pclo A G 5: 14,840,408 (GRCm39) D1449G Het
Pcx A G 19: 4,651,970 (GRCm39) T73A probably benign Het
Prss35 C G 9: 86,638,392 (GRCm39) I387M Het
Radil C A 5: 142,471,220 (GRCm39) D1019Y probably damaging Het
Rnf40 G T 7: 127,191,010 (GRCm39) probably null Het
Scarb1 A T 5: 125,417,891 (GRCm39) L19Q probably damaging Het
Scn8a T A 15: 100,930,159 (GRCm39) F1457I Het
Sdk2 C T 11: 113,760,744 (GRCm39) V339I possibly damaging Het
Siglec1 A G 2: 130,916,404 (GRCm39) L1182P probably damaging Het
Slc4a4 G A 5: 89,194,131 (GRCm39) V204I probably damaging Het
Sp9 T C 2: 73,104,243 (GRCm39) S266P probably benign Het
Spata21 A G 4: 140,831,316 (GRCm39) E421G probably damaging Het
Sulf1 C T 1: 12,929,459 (GRCm39) P242L probably damaging Het
Sval3 G A 6: 41,945,105 (GRCm39) G11E possibly damaging Het
Tecta T A 9: 42,248,576 (GRCm39) Y1942F probably damaging Het
Thbs2 C T 17: 14,890,243 (GRCm39) G1121D probably damaging Het
Thrap3 G T 4: 126,070,048 (GRCm39) S613* probably null Het
Ttc34 A C 4: 154,942,539 (GRCm39) K59Q probably damaging Het
Tut7 A T 13: 59,929,957 (GRCm39) L1428H possibly damaging Het
Ube4b A T 4: 149,444,748 (GRCm39) L504Q probably damaging Het
Uncx A T 5: 139,529,771 (GRCm39) E8V probably damaging Het
Vmn1r79 A T 7: 11,910,261 (GRCm39) I48F probably damaging Het
Vmn2r99 C A 17: 19,598,388 (GRCm39) Y137* probably null Het
Zfp354b G A 11: 50,814,523 (GRCm39) T134I probably benign Het
Zfp618 G A 4: 63,051,510 (GRCm39) V764I possibly damaging Het
Zfp873 T G 10: 81,897,131 (GRCm39) C621G probably benign Het
Other mutations in Pou6f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Pou6f2 APN 13 18,314,170 (GRCm39) missense probably damaging 1.00
IGL03046:Pou6f2 UTSW 13 18,303,612 (GRCm39) utr 3 prime probably benign
PIT4402001:Pou6f2 UTSW 13 18,299,931 (GRCm39) missense
PIT4519001:Pou6f2 UTSW 13 18,414,149 (GRCm39) missense unknown
R0349:Pou6f2 UTSW 13 18,326,589 (GRCm39) missense probably damaging 1.00
R0510:Pou6f2 UTSW 13 18,314,308 (GRCm39) splice site probably benign
R1449:Pou6f2 UTSW 13 18,347,000 (GRCm39) missense probably damaging 1.00
R1911:Pou6f2 UTSW 13 18,326,548 (GRCm39) missense probably damaging 0.98
R2971:Pou6f2 UTSW 13 18,556,552 (GRCm39) missense unknown
R5193:Pou6f2 UTSW 13 18,300,129 (GRCm39) utr 3 prime probably benign
R5218:Pou6f2 UTSW 13 18,326,586 (GRCm39) missense probably damaging 1.00
R6226:Pou6f2 UTSW 13 18,303,739 (GRCm39) missense possibly damaging 0.83
R6747:Pou6f2 UTSW 13 18,303,772 (GRCm39) missense probably benign 0.26
R6805:Pou6f2 UTSW 13 18,414,074 (GRCm39) missense
R6978:Pou6f2 UTSW 13 18,347,063 (GRCm39) missense probably damaging 1.00
R7072:Pou6f2 UTSW 13 18,299,754 (GRCm39) missense
R7158:Pou6f2 UTSW 13 18,326,623 (GRCm39) missense
R7187:Pou6f2 UTSW 13 18,414,298 (GRCm39) missense
R7198:Pou6f2 UTSW 13 18,303,748 (GRCm39) missense probably damaging 0.97
R7203:Pou6f2 UTSW 13 18,414,379 (GRCm39) missense unknown
R7241:Pou6f2 UTSW 13 18,299,874 (GRCm39) missense
R7307:Pou6f2 UTSW 13 18,414,298 (GRCm39) missense
R7827:Pou6f2 UTSW 13 18,553,092 (GRCm39) missense
R7895:Pou6f2 UTSW 13 18,300,033 (GRCm39) missense
R8070:Pou6f2 UTSW 13 18,414,209 (GRCm39) missense unknown
R8207:Pou6f2 UTSW 13 18,414,158 (GRCm39) missense
R8334:Pou6f2 UTSW 13 18,299,991 (GRCm39) missense probably damaging 1.00
R8680:Pou6f2 UTSW 13 18,414,196 (GRCm39) missense unknown
R8830:Pou6f2 UTSW 13 18,553,083 (GRCm39) missense
R9203:Pou6f2 UTSW 13 18,303,615 (GRCm39) missense
R9632:Pou6f2 UTSW 13 18,299,848 (GRCm39) missense
R9709:Pou6f2 UTSW 13 18,414,389 (GRCm39) missense unknown
Z1176:Pou6f2 UTSW 13 18,553,220 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GAGTCAAATGGCCTTGAGCAC -3'
(R):5'- TGAAATGTCCGTTCCCTAGC -3'

Sequencing Primer
(F):5'- TGGCCTTGAGCACAGATATC -3'
(R):5'- GAAATGTCCGTTCCCTAGCATTTC -3'
Posted On 2022-06-15