Incidental Mutation 'R6605:Pou2f2'
| ID |
525589 |
| 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 |
044728-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6605 (G1)
|
| Quality Score |
138.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24790111-24879292 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24793006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 441
(V441G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098679]
[ENSMUST00000108413]
[ENSMUST00000108415]
[ENSMUST00000108416]
[ENSMUST00000108417]
[ENSMUST00000108418]
[ENSMUST00000175774]
[ENSMUST00000176408]
|
| AlphaFold |
Q00196 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098679
AA Change: V441G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096276
Gene: ENSMUSG00000008496
AA Change: V441G
| 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
AA Change: V435G
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104053
Gene: ENSMUSG00000008496
AA Change: V435G
| 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 |
possibly damaging
Transcript: ENSMUST00000108416
AA Change: V380G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104054
Gene: ENSMUSG00000008496
AA Change: V380G
| 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 |
possibly damaging
Transcript: ENSMUST00000108417
AA Change: V441G
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104055
Gene: ENSMUSG00000008496
AA Change: V441G
| 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: V419G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104056
Gene: ENSMUSG00000008496
AA Change: V419G
| 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 |
possibly damaging
Transcript: ENSMUST00000175774
AA Change: V419G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135075
Gene: ENSMUSG00000008496
AA Change: V419G
| 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 |
probably benign
Transcript: ENSMUST00000176408
AA Change: V435G
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000135326
Gene: ENSMUSG00000008496
AA Change: V435G
| 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 |
noncoding transcript
Transcript: ENSMUST00000184150
|
| Meta Mutation Damage Score |
0.1185 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
92% (35/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
| Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
| Asb2 |
G |
T |
12: 103,311,943 (GRCm39) |
Q60K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
| Cd79b |
C |
T |
11: 106,203,539 (GRCm39) |
G116D |
probably damaging |
Het |
| Copg2 |
A |
G |
6: 30,835,757 (GRCm39) |
F218S |
probably benign |
Het |
| Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
| Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
| Gpr19 |
T |
C |
6: 134,847,398 (GRCm39) |
N58S |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
| Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
| Lgr5 |
A |
C |
10: 115,293,772 (GRCm39) |
N408K |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
| Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,541 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
| Pnlip |
A |
T |
19: 58,660,174 (GRCm39) |
D29V |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
| Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
| Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
| Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
| Tpst2 |
A |
T |
5: 112,424,600 (GRCm39) |
|
probably benign |
Homo |
| Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
| Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,261 (GRCm39) |
V402A |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
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 |
|
|
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 |
|
R5995:Pou2f2
|
UTSW |
7 |
24,796,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGCTCAACCCCACCATTGTG -3'
(R):5'- CTCTGAGTTTAGAGACTCTGGG -3'
Sequencing Primer
(F):5'- AACCCCACCATTGTGCTTCTG -3'
(R):5'- CTCTGGGTATACAATAGGGATCACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation