Incidental Mutation 'R5995:Pou2f2'
ID 481063
Institutional Source Beutler Lab
Gene Symbol Pou2f2
Ensembl Gene ENSMUSG00000008496
Gene Name POU domain, class 2, transcription factor 2
Synonyms Oct-2, Otf2, Oct2c, Oct2d, Otf-2, Oct2a, Oct2b
MMRRC Submission 044174-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5995 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 24790111-24879292 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 24796869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 236 (K236Q)
Ref Sequence ENSEMBL: ENSMUSP00000135075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098679] [ENSMUST00000108413] [ENSMUST00000108415] [ENSMUST00000108416] [ENSMUST00000108417] [ENSMUST00000108418] [ENSMUST00000176408] [ENSMUST00000175774] [ENSMUST00000147146]
AlphaFold Q00196
Predicted Effect probably damaging
Transcript: ENSMUST00000098679
AA Change: K258Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096276
Gene: ENSMUSG00000008496
AA Change: K258Q

DomainStartEndE-ValueType
low complexity region 95 114 N/A INTRINSIC
low complexity region 126 137 N/A INTRINSIC
low complexity region 142 158 N/A INTRINSIC
POU 201 275 7.65e-52 SMART
low complexity region 281 294 N/A INTRINSIC
HOX 303 365 3.8e-18 SMART
low complexity region 392 416 N/A INTRINSIC
low complexity region 422 432 N/A INTRINSIC
low complexity region 433 456 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108413
AA Change: K236Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104051
Gene: ENSMUSG00000008496
AA Change: K236Q

DomainStartEndE-ValueType
low complexity region 73 92 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 120 136 N/A INTRINSIC
POU 179 253 7.65e-52 SMART
low complexity region 259 272 N/A INTRINSIC
HOX 281 343 3.8e-18 SMART
low complexity region 373 400 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108415
AA Change: K252Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104053
Gene: ENSMUSG00000008496
AA Change: K252Q

DomainStartEndE-ValueType
low complexity region 73 92 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 120 136 N/A INTRINSIC
POU 195 269 7.65e-52 SMART
low complexity region 275 288 N/A INTRINSIC
HOX 297 359 3.8e-18 SMART
low complexity region 386 410 N/A INTRINSIC
low complexity region 416 426 N/A INTRINSIC
low complexity region 427 450 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108416
AA Change: K197Q

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104054
Gene: ENSMUSG00000008496
AA Change: K197Q

DomainStartEndE-ValueType
low complexity region 65 76 N/A INTRINSIC
low complexity region 81 97 N/A INTRINSIC
POU 140 214 7.65e-52 SMART
low complexity region 220 233 N/A INTRINSIC
HOX 242 304 3.8e-18 SMART
low complexity region 331 355 N/A INTRINSIC
low complexity region 361 371 N/A INTRINSIC
low complexity region 372 395 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108417
AA Change: K258Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104055
Gene: ENSMUSG00000008496
AA Change: K258Q

DomainStartEndE-ValueType
low complexity region 95 114 N/A INTRINSIC
low complexity region 126 137 N/A INTRINSIC
low complexity region 142 158 N/A INTRINSIC
POU 201 275 7.65e-52 SMART
low complexity region 281 294 N/A INTRINSIC
HOX 303 365 3.8e-18 SMART
low complexity region 392 416 N/A INTRINSIC
low complexity region 422 432 N/A INTRINSIC
low complexity region 433 456 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108418
AA Change: K236Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104056
Gene: ENSMUSG00000008496
AA Change: K236Q

DomainStartEndE-ValueType
low complexity region 73 92 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 120 136 N/A INTRINSIC
POU 179 253 7.65e-52 SMART
low complexity region 259 272 N/A INTRINSIC
HOX 281 343 3.8e-18 SMART
low complexity region 370 394 N/A INTRINSIC
low complexity region 400 410 N/A INTRINSIC
low complexity region 411 434 N/A INTRINSIC
low complexity region 490 509 N/A INTRINSIC
low complexity region 533 563 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176408
AA Change: K252Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135326
Gene: ENSMUSG00000008496
AA Change: K252Q

DomainStartEndE-ValueType
low complexity region 73 92 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 120 136 N/A INTRINSIC
POU 195 269 7.65e-52 SMART
low complexity region 275 288 N/A INTRINSIC
HOX 297 359 3.8e-18 SMART
low complexity region 386 410 N/A INTRINSIC
low complexity region 416 426 N/A INTRINSIC
low complexity region 427 450 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000175774
AA Change: K236Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135075
Gene: ENSMUSG00000008496
AA Change: K236Q

DomainStartEndE-ValueType
low complexity region 73 92 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 120 136 N/A INTRINSIC
POU 179 253 7.65e-52 SMART
low complexity region 259 272 N/A INTRINSIC
HOX 281 343 3.8e-18 SMART
low complexity region 370 394 N/A INTRINSIC
low complexity region 400 410 N/A INTRINSIC
low complexity region 411 434 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184150
Predicted Effect probably benign
Transcript: ENSMUST00000147146
SMART Domains Protein: ENSMUSP00000118307
Gene: ENSMUSG00000008496

DomainStartEndE-ValueType
low complexity region 39 58 N/A INTRINSIC
SCOP:d1gkub1 89 123 2e-3 SMART
low complexity region 134 151 N/A INTRINSIC
low complexity region 163 174 N/A INTRINSIC
low complexity region 179 195 N/A INTRINSIC
Meta Mutation Damage Score 0.6491 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous inactivation of this locus results in failed B cell maturation and death within hours of birth. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Gene trapped(2)

Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Adgrb2 C A 4: 129,910,896 (GRCm39) A1104E probably damaging Het
Adgrv1 A G 13: 81,614,378 (GRCm39) V4005A probably benign Het
Bend6 T C 1: 33,917,520 (GRCm39) probably null Het
Brwd1 A T 16: 95,865,987 (GRCm39) V265E probably damaging Het
Ccdc96 A G 5: 36,643,718 (GRCm39) I575V probably damaging Het
Cd109 A T 9: 78,607,561 (GRCm39) I1094L probably benign Het
Cd44 A G 2: 102,692,015 (GRCm39) V91A probably damaging Het
Cdv3 C G 9: 103,241,202 (GRCm39) G122R probably damaging Het
Ces2c T A 8: 105,577,533 (GRCm39) V272D possibly damaging Het
Colgalt1 T A 8: 72,075,754 (GRCm39) M467K probably damaging Het
Crtam G A 9: 40,905,836 (GRCm39) T31M possibly damaging Het
Cyp7a1 C T 4: 6,272,371 (GRCm39) V281M possibly damaging Het
Dnah7a A T 1: 53,659,829 (GRCm39) N726K probably benign Het
Dok6 T C 18: 89,439,142 (GRCm39) E232G possibly damaging Het
Gm12185 T C 11: 48,806,540 (GRCm39) E217G probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Gria1 A T 11: 57,180,111 (GRCm39) Y618F probably damaging Het
H2-T22 A G 17: 36,352,377 (GRCm39) Y183H probably benign Het
Hace1 A T 10: 45,546,487 (GRCm39) I374L probably benign Het
Hif3a T A 7: 16,787,694 (GRCm39) T132S probably benign Het
Hoxa3 T A 6: 52,147,263 (GRCm39) probably benign Het
Il27 A C 7: 126,188,535 (GRCm39) probably benign Het
Klhdc1 T C 12: 69,297,548 (GRCm39) Y40H probably damaging Het
Klhl33 T G 14: 51,130,108 (GRCm39) E462A possibly damaging Het
Myh10 T C 11: 68,705,809 (GRCm39) I1979T probably benign Het
Nfkbil1 G T 17: 35,439,774 (GRCm39) F246L probably benign Het
Nlrp1b A T 11: 71,072,572 (GRCm39) F424I probably damaging Het
Nod1 A G 6: 54,921,539 (GRCm39) Y260H probably damaging Het
Ofcc1 A G 13: 40,433,898 (GRCm39) L69P probably damaging Het
Onecut2 G T 18: 64,474,619 (GRCm39) R390L probably damaging Het
Oprm1 A C 10: 6,782,520 (GRCm39) M388L probably benign Het
Or10q3 A T 19: 11,848,226 (GRCm39) I118N possibly damaging Het
Or1e26 T C 11: 73,480,076 (GRCm39) I163V probably benign Het
Or1o3 C A 17: 37,574,539 (GRCm39) Q5H probably benign Het
Or5aq1 T C 2: 86,966,200 (GRCm39) N155S probably damaging Het
Or5b96 A C 19: 12,867,961 (GRCm39) probably null Het
Or8g53 A G 9: 39,683,988 (GRCm39) V36A probably benign Het
Pcdhgc5 T A 18: 37,954,113 (GRCm39) Y462* probably null Het
Pex1 T A 5: 3,657,704 (GRCm39) M425K possibly damaging Het
Plec A T 15: 76,070,105 (GRCm39) Y1001N probably damaging Het
Poglut3 T C 9: 53,307,195 (GRCm39) Y380H probably damaging Het
Rbm20 G A 19: 53,839,698 (GRCm39) E896K possibly damaging Het
Sh3tc2 T A 18: 62,123,081 (GRCm39) L614Q probably damaging Het
Skint5 T A 4: 113,751,029 (GRCm39) I339F unknown Het
Slc2a7 T C 4: 150,252,797 (GRCm39) I479T probably damaging Het
Snrk A G 9: 121,986,288 (GRCm39) N219S probably damaging Het
Supt20 T C 3: 54,616,474 (GRCm39) S245P probably damaging Het
Ttn A G 2: 76,591,636 (GRCm39) I21011T probably damaging Het
Vmn2r11 T A 5: 109,194,921 (GRCm39) I802F probably damaging Het
Vmn2r92 T C 17: 18,389,213 (GRCm39) probably null Het
Ythdc2 T A 18: 45,019,320 (GRCm39) M1363K probably damaging Het
Zan T C 5: 137,377,071 (GRCm39) probably benign Het
Zfp521 C A 18: 13,850,681 (GRCm39) C1261F probably damaging Het
Zfp980 A T 4: 145,428,479 (GRCm39) K403* probably null Het
Other mutations in Pou2f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Pou2f2 APN 7 24,792,125 (GRCm39) nonsense probably null
IGL01420:Pou2f2 APN 7 24,792,377 (GRCm39) missense possibly damaging 0.79
IGL02219:Pou2f2 APN 7 24,797,107 (GRCm39) missense probably damaging 1.00
IGL03038:Pou2f2 APN 7 24,796,577 (GRCm39) missense probably damaging 1.00
IGL03173:Pou2f2 APN 7 24,799,371 (GRCm39) splice site probably benign
D3080:Pou2f2 UTSW 7 24,796,558 (GRCm39) splice site probably benign
R0347:Pou2f2 UTSW 7 24,797,126 (GRCm39) missense probably damaging 1.00
R0385:Pou2f2 UTSW 7 24,815,501 (GRCm39) nonsense probably null
R0842:Pou2f2 UTSW 7 24,796,355 (GRCm39) missense probably damaging 1.00
R1665:Pou2f2 UTSW 7 24,792,149 (GRCm39) missense possibly damaging 0.66
R1914:Pou2f2 UTSW 7 24,799,581 (GRCm39) missense possibly damaging 0.71
R1915:Pou2f2 UTSW 7 24,799,581 (GRCm39) missense possibly damaging 0.71
R4076:Pou2f2 UTSW 7 24,796,713 (GRCm39) missense probably damaging 0.98
R4811:Pou2f2 UTSW 7 24,797,111 (GRCm39) nonsense probably null
R4863:Pou2f2 UTSW 7 24,796,533 (GRCm39) intron probably benign
R5362:Pou2f2 UTSW 7 24,792,320 (GRCm39) missense probably benign 0.02
R6605:Pou2f2 UTSW 7 24,793,006 (GRCm39) missense probably damaging 0.96
R7541:Pou2f2 UTSW 7 24,815,553 (GRCm39) missense probably benign 0.02
R7884:Pou2f2 UTSW 7 24,815,489 (GRCm39) missense probably benign 0.39
R8123:Pou2f2 UTSW 7 24,796,433 (GRCm39) missense possibly damaging 0.83
R8416:Pou2f2 UTSW 7 24,815,551 (GRCm39) nonsense probably null
R8499:Pou2f2 UTSW 7 24,799,623 (GRCm39) missense probably damaging 1.00
R8554:Pou2f2 UTSW 7 24,814,981 (GRCm39) intron probably benign
R9122:Pou2f2 UTSW 7 24,792,302 (GRCm39) missense probably benign
R9341:Pou2f2 UTSW 7 24,794,277 (GRCm39) missense possibly damaging 0.88
R9343:Pou2f2 UTSW 7 24,794,277 (GRCm39) missense possibly damaging 0.88
R9474:Pou2f2 UTSW 7 24,794,247 (GRCm39) missense probably benign 0.02
R9576:Pou2f2 UTSW 7 24,796,569 (GRCm39) missense probably benign 0.28
R9578:Pou2f2 UTSW 7 24,796,569 (GRCm39) missense probably benign 0.28
RF014:Pou2f2 UTSW 7 24,815,162 (GRCm39) missense unknown
Z1177:Pou2f2 UTSW 7 24,792,601 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAATCCACAGACATAGTCTCTG -3'
(R):5'- ATCAAGCTGGGCTTCACACAG -3'

Sequencing Primer
(F):5'- CAGACATAGTCTCTGTGAAAACAG -3'
(R):5'- TGGGCTTCACACAGGTCTG -3'
Posted On 2017-06-26