Incidental Mutation 'R8349:Pou2af1'
ID 645428
Institutional Source Beutler Lab
Gene Symbol Pou2af1
Ensembl Gene ENSMUSG00000032053
Gene Name POU domain, class 2, associating factor 1
Synonyms OCAB, OCA-B, BOB.1, Bob-1, OBF-1, OBF.1, Bob1
MMRRC Submission 067803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8349 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 51125008-51151380 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51144326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 80 (E80V)
Ref Sequence ENSEMBL: ENSMUSP00000034554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034554]
AlphaFold Q64693
Predicted Effect probably damaging
Transcript: ENSMUST00000034554
AA Change: E80V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034554
Gene: ENSMUSG00000032053
AA Change: E80V

DomainStartEndE-ValueType
Pfam:PD-C2-AF1 7 255 4.8e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214322
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of mature B cells, absence of germinal centers, and low serum levels of non-IgM immunoglobulins. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 A G 11: 105,885,768 (GRCm39) E58G probably damaging Het
Ank1 T A 8: 23,629,302 (GRCm39) F4I possibly damaging Het
Arih2 T C 9: 108,488,872 (GRCm39) D282G possibly damaging Het
Atp7b C T 8: 22,503,556 (GRCm39) V733I probably damaging Het
Avil A G 10: 126,845,861 (GRCm39) D370G probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdkl3 A G 11: 51,975,260 (GRCm39) H74R Het
Clec9a C A 6: 129,387,292 (GRCm39) A49E probably damaging Het
Cntn5 A G 9: 9,666,840 (GRCm39) probably null Het
Cyp11b2 A G 15: 74,723,428 (GRCm39) M412T possibly damaging Het
Dhrs7l T C 12: 72,659,340 (GRCm39) N145D probably damaging Het
Dync1i1 A G 6: 5,966,815 (GRCm39) Q399R possibly damaging Het
Fam47e C A 5: 92,702,990 (GRCm39) R21S probably benign Het
Gimap4 A G 6: 48,667,694 (GRCm39) I150V probably damaging Het
Gm7361 T A 5: 26,465,387 (GRCm39) M128K possibly damaging Het
Gtf3c3 C T 1: 54,468,068 (GRCm39) E190K probably damaging Het
Hells T C 19: 38,940,286 (GRCm39) S396P probably damaging Het
Hrg T A 16: 22,780,286 (GRCm39) S521R unknown Het
Itih5 A G 2: 10,191,800 (GRCm39) T112A probably benign Het
Ly9 T A 1: 171,421,586 (GRCm39) N555I probably damaging Het
Morc2b C T 17: 33,355,775 (GRCm39) E666K probably benign Het
Mup8 C A 4: 60,222,382 (GRCm39) V30L probably benign Het
Nebl T A 2: 17,418,593 (GRCm39) E268D probably damaging Het
Nr4a3 G T 4: 48,052,170 (GRCm39) R308L probably benign Het
Or10k2 A T 8: 84,268,301 (GRCm39) H176L probably damaging Het
Or14j1 A G 17: 38,146,561 (GRCm39) R224G probably damaging Het
Or4c10 A T 2: 89,760,878 (GRCm39) I242L possibly damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Or8k33 T G 2: 86,383,980 (GRCm39) I163L probably benign Het
Plcd3 A G 11: 102,965,496 (GRCm39) Y530H probably damaging Het
Scgb2b18 C T 7: 32,872,656 (GRCm39) D50N probably benign Het
Sis C T 3: 72,810,984 (GRCm39) G1679D probably damaging Het
Sorcs2 A T 5: 36,386,519 (GRCm39) M173K possibly damaging Het
Ston2 T C 12: 91,608,649 (GRCm39) D817G probably damaging Het
Ticrr T A 7: 79,344,428 (GRCm39) F1431Y probably benign Het
Uevld T A 7: 46,595,055 (GRCm39) N179I probably damaging Het
Utp6 G T 11: 79,836,610 (GRCm39) Q375K probably benign Het
Vmn2r68 T A 7: 84,882,785 (GRCm39) E322D probably damaging Het
Wnt5a A G 14: 28,235,108 (GRCm39) M51V probably benign Het
Zfp202 A T 9: 40,118,976 (GRCm39) R130* probably null Het
Zfp949 G T 9: 88,449,302 (GRCm39) V36L possibly damaging Het
Other mutations in Pou2af1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1514:Pou2af1 UTSW 9 51,144,508 (GRCm39) missense probably benign 0.21
R1621:Pou2af1 UTSW 9 51,144,160 (GRCm39) missense probably damaging 1.00
R4609:Pou2af1 UTSW 9 51,149,525 (GRCm39) missense possibly damaging 0.84
R4757:Pou2af1 UTSW 9 51,144,439 (GRCm39) missense possibly damaging 0.87
R7635:Pou2af1 UTSW 9 51,144,283 (GRCm39) missense probably benign 0.00
R7686:Pou2af1 UTSW 9 51,149,486 (GRCm39) missense probably damaging 1.00
R7891:Pou2af1 UTSW 9 51,144,297 (GRCm39) missense probably damaging 0.99
R8295:Pou2af1 UTSW 9 51,144,305 (GRCm39) missense possibly damaging 0.85
R8449:Pou2af1 UTSW 9 51,144,326 (GRCm39) missense probably damaging 1.00
R9753:Pou2af1 UTSW 9 51,149,636 (GRCm39) missense possibly damaging 0.89
Z1177:Pou2af1 UTSW 9 51,144,289 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCTAGGTGGTACTGCCCC -3'
(R):5'- CCGTGACATTAGTGATGAGTGG -3'

Sequencing Primer
(F):5'- TGGTACTGCCCCACCAG -3'
(R):5'- TCAACACCGAGGAGGGTC -3'
Posted On 2020-09-02