Incidental Mutation 'R8123:Pou2f2'
| ID |
631605 |
| 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 |
067552-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8123 (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 C
at 24796433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 322
(K322R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098679]
[ENSMUST00000108413]
[ENSMUST00000108415]
[ENSMUST00000108416]
[ENSMUST00000108417]
[ENSMUST00000108418]
[ENSMUST00000147146]
[ENSMUST00000175774]
[ENSMUST00000176408]
|
| AlphaFold |
Q00196 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098679
AA Change: K344R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096276
Gene: ENSMUSG00000008496
AA Change: K344R
| 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 damaging
Transcript: ENSMUST00000108413
AA Change: K322R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104051
Gene: ENSMUSG00000008496
AA Change: K322R
| 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 damaging
Transcript: ENSMUST00000108415
AA Change: K338R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104053
Gene: ENSMUSG00000008496
AA Change: K338R
| 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: K283R
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104054
Gene: ENSMUSG00000008496
AA Change: K283R
| 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 damaging
Transcript: ENSMUST00000108417
AA Change: K344R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104055
Gene: ENSMUSG00000008496
AA Change: K344R
| 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: K322R
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104056
Gene: ENSMUSG00000008496
AA Change: K322R
| 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: ENSMUST00000147146
|
| SMART Domains |
Protein: ENSMUSP00000118307
Gene: ENSMUSG00000008496
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175774
AA Change: K322R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135075
Gene: ENSMUSG00000008496
AA Change: K322R
| 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 damaging
Transcript: ENSMUST00000176408
AA Change: K338R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135326
Gene: ENSMUSG00000008496
AA Change: K338R
| 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 |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.0%
- 20x: 97.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer2 |
G |
T |
4: 86,805,272 (GRCm39) |
V79F |
probably damaging |
Het |
| Acvr2a |
T |
C |
2: 48,763,384 (GRCm39) |
S143P |
probably damaging |
Het |
| Adam22 |
T |
A |
5: 8,142,833 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,708,136 (GRCm39) |
F60S |
|
Het |
| Cacna1s |
A |
T |
1: 136,035,917 (GRCm39) |
I1386F |
probably damaging |
Het |
| Cav2 |
T |
A |
6: 17,286,992 (GRCm39) |
C145* |
probably null |
Het |
| Cc2d2a |
A |
T |
5: 43,867,896 (GRCm39) |
T847S |
probably benign |
Het |
| Ces2g |
T |
A |
8: 105,693,555 (GRCm39) |
M412K |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,179,704 (GRCm39) |
V746A |
probably damaging |
Het |
| Dnm3 |
A |
G |
1: 161,838,672 (GRCm39) |
S230P |
probably benign |
Het |
| Dph3 |
T |
C |
14: 31,805,157 (GRCm39) |
K77R |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fcgr4 |
A |
G |
1: 170,847,572 (GRCm39) |
I57V |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,712,836 (GRCm39) |
I201K |
probably benign |
Het |
| Foxc2 |
C |
T |
8: 121,843,601 (GRCm39) |
A83V |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,994,950 (GRCm39) |
K20E |
probably damaging |
Het |
| Gtf2e1 |
A |
T |
16: 37,336,105 (GRCm39) |
Y290N |
possibly damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,303,196 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
G |
A |
2: 79,146,027 (GRCm39) |
S743N |
probably benign |
Het |
| Lamp1 |
A |
G |
8: 13,217,158 (GRCm39) |
I56V |
probably benign |
Het |
| Lipt2 |
A |
G |
7: 99,808,586 (GRCm39) |
D33G |
probably benign |
Het |
| Mat2a |
A |
G |
6: 72,411,321 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,064,135 (GRCm39) |
E65G |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,207,845 (GRCm39) |
L58P |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,260,799 (GRCm38) |
M161K |
probably benign |
Het |
| Nod1 |
C |
T |
6: 54,914,391 (GRCm39) |
G801R |
probably damaging |
Het |
| Npy1r |
A |
T |
8: 67,157,619 (GRCm39) |
I310F |
probably damaging |
Het |
| Or14j2 |
G |
C |
17: 37,885,653 (GRCm39) |
H220Q |
probably benign |
Het |
| Or5k1b |
T |
A |
16: 58,581,537 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pde3a |
A |
T |
6: 141,411,917 (GRCm39) |
Y497F |
probably benign |
Het |
| Pecr |
A |
T |
1: 72,314,094 (GRCm39) |
S153T |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,098,956 (GRCm39) |
V1976A |
|
Het |
| Plrg1 |
G |
A |
3: 82,973,237 (GRCm39) |
A181T |
probably benign |
Het |
| Ppp1r17 |
T |
A |
6: 55,999,443 (GRCm39) |
D25E |
probably damaging |
Het |
| Radil |
A |
C |
5: 142,473,375 (GRCm39) |
Y769D |
probably damaging |
Het |
| Ric8b |
A |
G |
10: 84,805,737 (GRCm39) |
N283D |
probably damaging |
Het |
| Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Traj39 |
G |
A |
14: 54,417,451 (GRCm39) |
G11R |
|
Het |
| Ugt2b36 |
G |
A |
5: 87,240,295 (GRCm39) |
P30L |
probably damaging |
Het |
| Vipr1 |
C |
A |
9: 121,498,518 (GRCm39) |
P423T |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,625,066 (GRCm39) |
E2731G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,801,248 (GRCm39) |
M1056K |
possibly damaging |
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 |
|
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 |
|
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'- GTTTAGGTACGTTTGCTTCACAC -3'
(R):5'- GACCAGCATCGAGACGAATG -3'
Sequencing Primer
(F):5'- AGGTACGTTTGCTTCACACAGATG -3'
(R):5'- ATCGAGACGAATGTCCGCTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation