Incidental Mutation 'IGL01420:Pou2f2'
| ID |
80407 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24790111-24879292 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24792377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 493
(N493D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098679]
[ENSMUST00000108413]
[ENSMUST00000108415]
[ENSMUST00000108416]
[ENSMUST00000108417]
[ENSMUST00000108418]
[ENSMUST00000175774]
[ENSMUST00000176408]
|
| AlphaFold |
Q00196 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098679
|
| SMART Domains |
Protein: ENSMUSP00000096276
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000108413
|
| SMART Domains |
Protein: ENSMUSP00000104051
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000108415
|
| SMART Domains |
Protein: ENSMUSP00000104053
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| SMART Domains |
Protein: ENSMUSP00000104054
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000108417
|
| SMART Domains |
Protein: ENSMUSP00000104055
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000108418
AA Change: N493D
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104056
Gene: ENSMUSG00000008496
AA Change: N493D
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000175774
|
| SMART Domains |
Protein: ENSMUSP00000135075
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000176408
|
| SMART Domains |
Protein: ENSMUSP00000135326
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,920,637 (GRCm39) |
|
probably benign |
Het |
| Actr6 |
A |
T |
10: 89,561,027 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,850,916 (GRCm39) |
M541K |
possibly damaging |
Het |
| Adgre4 |
T |
C |
17: 56,106,785 (GRCm39) |
|
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,883,189 (GRCm39) |
Y481C |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,748,292 (GRCm39) |
I371F |
possibly damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,297,649 (GRCm39) |
D261G |
probably damaging |
Het |
| Bche |
T |
C |
3: 73,609,342 (GRCm39) |
H28R |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,104,065 (GRCm39) |
V2026A |
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,773,595 (GRCm39) |
V1697I |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,301,079 (GRCm39) |
H2738R |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,718,389 (GRCm39) |
|
probably null |
Het |
| Cep152 |
A |
T |
2: 125,405,572 (GRCm39) |
D1653E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,470,137 (GRCm39) |
I248F |
probably benign |
Het |
| Clcnka |
C |
A |
4: 141,116,643 (GRCm39) |
R536L |
probably benign |
Het |
| Dao |
T |
A |
5: 114,161,881 (GRCm39) |
|
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,175,367 (GRCm39) |
S585P |
possibly damaging |
Het |
| Dysf |
C |
T |
6: 84,126,741 (GRCm39) |
Q1333* |
probably null |
Het |
| Eps8l2 |
T |
A |
7: 140,937,576 (GRCm39) |
S397T |
probably benign |
Het |
| Fap |
A |
G |
2: 62,334,846 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,036,822 (GRCm39) |
T971A |
probably benign |
Het |
| Fbxl17 |
C |
T |
17: 63,692,047 (GRCm39) |
V22M |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,839,558 (GRCm39) |
M457K |
probably benign |
Het |
| Fundc2 |
T |
C |
X: 74,434,471 (GRCm39) |
|
probably benign |
Het |
| Heyl |
C |
A |
4: 123,133,967 (GRCm39) |
Q42K |
probably damaging |
Het |
| Hyal4 |
A |
G |
6: 24,755,871 (GRCm39) |
K30E |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,071 (GRCm39) |
I2201V |
probably benign |
Het |
| Il34 |
T |
C |
8: 111,469,345 (GRCm39) |
K157E |
probably damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,316,766 (GRCm39) |
T116A |
probably damaging |
Het |
| Lpl |
T |
C |
8: 69,340,085 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
A |
G |
1: 128,273,612 (GRCm39) |
L406P |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,960,027 (GRCm39) |
R328H |
probably damaging |
Het |
| Nadk2 |
T |
C |
15: 9,103,072 (GRCm39) |
S308P |
probably damaging |
Het |
| Nae1 |
G |
T |
8: 105,249,797 (GRCm39) |
Q225K |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,249,507 (GRCm39) |
P1266S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,047,389 (GRCm39) |
Y6485H |
probably damaging |
Het |
| Nin |
G |
A |
12: 70,092,188 (GRCm39) |
A707V |
probably benign |
Het |
| Nmur1 |
T |
C |
1: 86,315,113 (GRCm39) |
T218A |
probably benign |
Het |
| Npr3 |
T |
C |
15: 11,858,718 (GRCm39) |
N135D |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,620,926 (GRCm39) |
L142Q |
probably damaging |
Het |
| Pdgfc |
T |
A |
3: 81,048,750 (GRCm39) |
S53T |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,654,950 (GRCm39) |
V232D |
probably damaging |
Het |
| Rtel1 |
T |
C |
2: 180,996,194 (GRCm39) |
I750T |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,891,184 (GRCm39) |
|
probably null |
Het |
| Sec24d |
A |
G |
3: 123,143,658 (GRCm39) |
N603S |
probably benign |
Het |
| Slc38a10 |
T |
A |
11: 119,997,286 (GRCm39) |
E736V |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,341,659 (GRCm39) |
Y559C |
probably benign |
Het |
| Sprr4 |
A |
T |
3: 92,407,691 (GRCm39) |
V37E |
unknown |
Het |
| Sptbn2 |
A |
G |
19: 4,784,153 (GRCm39) |
T632A |
probably benign |
Het |
| Trim31 |
A |
G |
17: 37,209,303 (GRCm39) |
M20V |
probably benign |
Het |
| Trim65 |
C |
A |
11: 116,017,335 (GRCm39) |
V376L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,542,420 (GRCm39) |
D25195G |
probably damaging |
Het |
| Tysnd1 |
A |
G |
10: 61,537,830 (GRCm39) |
T503A |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,390,200 (GRCm39) |
I9L |
probably benign |
Het |
| Zfp398 |
A |
G |
6: 47,842,868 (GRCm39) |
M175V |
probably benign |
Het |
|
| Other mutations in Pou2f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Pou2f2
|
APN |
7 |
24,792,125 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
R5995:Pou2f2
|
UTSW |
7 |
24,796,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation