Incidental Mutation 'IGL02549:Pou5f2'
ID297966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou5f2
Ensembl Gene ENSMUSG00000093668
Gene NamePOU domain class 5, transcription factor 2
SynonymsSprm1, 1700013G10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL02549
Quality Score
Status
Chromosome13
Chromosomal Location78024902-78026295 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78025590 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 217 (L217Q)
Ref Sequence ENSEMBL: ENSMUSP00000135597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091459] [ENSMUST00000099358] [ENSMUST00000163257] [ENSMUST00000175955] [ENSMUST00000224217]
Predicted Effect probably benign
Transcript: ENSMUST00000091459
SMART Domains Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138

DomainStartEndE-ValueType
Pfam:Arb2 30 178 7.8e-38 PFAM
SCOP:d1imja_ 224 295 2e-3 SMART
low complexity region 341 354 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099358
SMART Domains Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138

DomainStartEndE-ValueType
SCOP:d1imja_ 160 231 2e-3 SMART
low complexity region 277 290 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163257
SMART Domains Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Arb2 78 228 3.5e-44 PFAM
SCOP:d1imja_ 270 341 2e-3 SMART
low complexity region 387 400 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000175955
AA Change: L217Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135597
Gene: ENSMUSG00000093668
AA Change: L217Q

DomainStartEndE-ValueType
POU 107 181 8.68e-33 SMART
HOX 199 261 2.57e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224217
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null male mice exhibit reduced male fertility in spite of normal morphology and sperm count. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,102,053 E1595G probably damaging Het
Adnp2 G A 18: 80,129,118 A692V probably damaging Het
Als2cr12 T C 1: 58,659,282 T326A probably benign Het
Ankk1 A G 9: 49,418,693 S321P probably damaging Het
Ankrd11 T C 8: 122,891,293 Y1919C probably damaging Het
Atp10a A G 7: 58,819,733 T1111A probably benign Het
Avpr1a A T 10: 122,452,164 H359L possibly damaging Het
C1rl A T 6: 124,493,837 I35F possibly damaging Het
Casp8 G A 1: 58,833,766 C287Y probably benign Het
Ccdc88c A T 12: 100,928,932 S1437T probably benign Het
Cd200r1 C T 16: 44,789,978 P150S probably damaging Het
Col2a1 G A 15: 97,977,799 R1202C unknown Het
Copb1 A T 7: 114,246,797 D179E probably benign Het
Cyp2c29 C T 19: 39,309,785 T258I possibly damaging Het
Gemin5 T C 11: 58,134,803 Y991C probably damaging Het
Gm4978 T C 9: 69,450,359 probably benign Het
Gm7732 A T 17: 21,129,387 noncoding transcript Het
Gucy2f T C X: 142,160,204 I478V probably benign Het
Herc1 A G 9: 66,399,901 H1001R probably damaging Het
Igsf10 A G 3: 59,329,241 V1173A probably benign Het
Kansl1l T C 1: 66,801,968 T58A probably benign Het
Kcnk13 A T 12: 100,061,751 K362* probably null Het
Lama1 T G 17: 67,790,835 L1737V possibly damaging Het
Lama4 A G 10: 39,060,204 N625S probably benign Het
Loxl1 A T 9: 58,293,638 C514S probably damaging Het
Muc13 A C 16: 33,807,969 E363A probably damaging Het
Noxo1 G T 17: 24,700,171 G289V probably damaging Het
Nudt7 G T 8: 114,151,948 D239Y probably damaging Het
Polr3e G T 7: 120,939,759 V407F probably damaging Het
R3hdm2 A G 10: 127,484,225 probably benign Het
Rab11fip3 A C 17: 25,994,320 N793K probably damaging Het
Ranbp3l A G 15: 8,968,441 R6G possibly damaging Het
Slco1a6 T A 6: 142,096,415 probably benign Het
Sspo A G 6: 48,451,773 E374G possibly damaging Het
Tg T C 15: 66,839,361 Y991H probably damaging Het
Tnc A G 4: 64,015,072 Y652H probably damaging Het
Trpc4 G A 3: 54,222,349 V179I possibly damaging Het
Xirp2 A G 2: 67,513,102 T1896A probably benign Het
Zfhx3 T C 8: 108,800,509 Y1013H probably damaging Het
Other mutations in Pou5f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01018:Pou5f2 APN 13 78025938 intron probably benign
IGL01726:Pou5f2 APN 13 78025181 missense possibly damaging 0.55
IGL02484:Pou5f2 APN 13 78025905 missense probably damaging 1.00
IGL02850:Pou5f2 APN 13 78025059 missense probably benign 0.00
IGL02852:Pou5f2 APN 13 78025059 missense probably benign 0.00
IGL02951:Pou5f2 APN 13 78025118 missense probably benign
R0631:Pou5f2 UTSW 13 78025754 missense probably benign 0.00
R1502:Pou5f2 UTSW 13 78025251 missense probably benign 0.14
R2014:Pou5f2 UTSW 13 78025853 missense probably benign 0.00
R2055:Pou5f2 UTSW 13 78025821 missense probably benign 0.06
R4082:Pou5f2 UTSW 13 78025905 missense probably damaging 1.00
R5193:Pou5f2 UTSW 13 78024964 missense probably benign 0.15
R5487:Pou5f2 UTSW 13 78024999 missense probably benign 0.09
R6880:Pou5f2 UTSW 13 78025494 missense possibly damaging 0.52
R7108:Pou5f2 UTSW 13 78025265 missense possibly damaging 0.95
R7117:Pou5f2 UTSW 13 78025273 missense probably benign 0.09
Z1176:Pou5f2 UTSW 13 78025097 missense probably benign 0.00
Z1177:Pou5f2 UTSW 13 78025701 missense probably benign 0.00
Posted On2015-04-16