Incidental Mutation 'IGL02634:Pou2af2'
ID 301450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou2af2
Ensembl Gene ENSMUSG00000036027
Gene Name POU domain, class 2, associating factor 2
Synonyms 1810046K07Rik, OCA-B homolog, Oca-t1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # IGL02634
Quality Score
Status
Chromosome 9
Chromosomal Location 51200986-51240224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51203055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 33 (L33P)
Ref Sequence ENSEMBL: ENSMUSP00000137735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039959] [ENSMUST00000181366]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000039959
AA Change: L33P

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000036912
Gene: ENSMUSG00000036027
AA Change: L33P

DomainStartEndE-ValueType
low complexity region 69 98 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000181366
AA Change: L33P

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137735
Gene: ENSMUSG00000036027
AA Change: L33P

DomainStartEndE-ValueType
low complexity region 69 98 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T A 11: 50,683,548 (GRCm39) C943* probably null Het
Arhgef28 A T 13: 98,187,566 (GRCm39) V243D probably benign Het
Arrdc3 T A 13: 81,038,884 (GRCm39) I62K probably damaging Het
Atm T C 9: 53,427,863 (GRCm39) T416A probably benign Het
AW209491 A G 13: 14,812,268 (GRCm39) T374A probably damaging Het
Brcc3 T C X: 74,479,704 (GRCm39) probably benign Het
Ccdc181 T G 1: 164,107,514 (GRCm39) S66A probably benign Het
Ccdc62 T C 5: 124,092,320 (GRCm39) I435T probably benign Het
Cdc14b C A 13: 64,364,117 (GRCm39) probably benign Het
Chst5 A G 8: 112,617,477 (GRCm39) S48P probably damaging Het
Ciita C A 16: 10,326,577 (GRCm39) S253Y probably damaging Het
Dock7 C T 4: 98,877,533 (GRCm39) R1005H probably damaging Het
Dsg4 A T 18: 20,591,637 (GRCm39) I459F probably benign Het
Enpep T C 3: 129,103,506 (GRCm39) E361G probably damaging Het
Fblim1 T C 4: 141,310,422 (GRCm39) D280G probably benign Het
Fignl1 G A 11: 11,752,756 (GRCm39) R100* probably null Het
Ggcx G T 6: 72,395,286 (GRCm39) A126S probably damaging Het
Hdgfl1 A G 13: 26,953,786 (GRCm39) S96P probably benign Het
Iqgap2 G A 13: 95,764,622 (GRCm39) L1541F probably damaging Het
Itga8 T C 2: 12,145,289 (GRCm39) E888G possibly damaging Het
Kank4 T A 4: 98,667,064 (GRCm39) Q461L probably benign Het
Klhl20 C T 1: 160,925,935 (GRCm39) V438M probably damaging Het
Klrc3 A T 6: 129,620,171 (GRCm39) S27R probably damaging Het
Ksr2 T C 5: 117,901,394 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,389,938 (GRCm39) S1829N probably benign Het
Obscn A G 11: 58,945,611 (GRCm39) L4585P probably damaging Het
Or5p57 T C 7: 107,665,978 (GRCm39) N9S probably benign Het
Palm3 T G 8: 84,755,494 (GRCm39) S335R probably damaging Het
Pcsk7 C T 9: 45,830,560 (GRCm39) A446V possibly damaging Het
Penk A G 4: 4,134,065 (GRCm39) L194P possibly damaging Het
Pkhd1l1 T C 15: 44,403,063 (GRCm39) F2255S probably damaging Het
Plcd3 G A 11: 102,968,653 (GRCm39) S31F probably damaging Het
Ppp6r2 C T 15: 89,159,680 (GRCm39) Q456* probably null Het
Rbbp8nl T C 2: 179,922,688 (GRCm39) D235G probably benign Het
Ror1 T A 4: 100,283,307 (GRCm39) N457K probably benign Het
Rpgrip1l C A 8: 91,951,972 (GRCm39) probably benign Het
Sdk1 T C 5: 141,595,787 (GRCm39) F148L probably benign Het
Slc45a2 A T 15: 11,023,440 (GRCm39) H348L probably benign Het
Smg8 C T 11: 86,977,498 (GRCm39) A28T probably benign Het
Snx14 A G 9: 88,285,356 (GRCm39) I436T probably damaging Het
Synj2 G A 17: 6,080,035 (GRCm39) R1088H probably damaging Het
Tubb6 T C 18: 67,535,366 (GRCm39) Y422H probably damaging Het
Unc13a T A 8: 72,108,345 (GRCm39) I503F probably benign Het
Unc13d A G 11: 115,961,382 (GRCm39) probably benign Het
Zp1 T C 19: 10,896,871 (GRCm39) probably benign Het
Other mutations in Pou2af2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4810001:Pou2af2 UTSW 9 51,202,992 (GRCm39) missense possibly damaging 0.77
R1552:Pou2af2 UTSW 9 51,202,870 (GRCm39) missense probably damaging 0.98
R1632:Pou2af2 UTSW 9 51,201,702 (GRCm39) missense probably damaging 1.00
R1896:Pou2af2 UTSW 9 51,203,098 (GRCm39) missense probably damaging 1.00
R5874:Pou2af2 UTSW 9 51,201,672 (GRCm39) nonsense probably null
R6313:Pou2af2 UTSW 9 51,201,481 (GRCm39) missense probably damaging 1.00
R6847:Pou2af2 UTSW 9 51,201,504 (GRCm39) missense probably damaging 1.00
R7211:Pou2af2 UTSW 9 51,201,733 (GRCm39) missense probably damaging 1.00
R7228:Pou2af2 UTSW 9 51,202,956 (GRCm39) missense probably damaging 1.00
R7488:Pou2af2 UTSW 9 51,201,360 (GRCm39) missense probably damaging 1.00
R9093:Pou2af2 UTSW 9 51,201,516 (GRCm39) missense possibly damaging 0.60
R9261:Pou2af2 UTSW 9 51,202,998 (GRCm39) missense probably benign 0.33
R9645:Pou2af2 UTSW 9 51,229,579 (GRCm39) critical splice donor site probably null
Z1176:Pou2af2 UTSW 9 51,202,864 (GRCm39) missense probably benign 0.31
Posted On 2015-04-16