Incidental Mutation 'R7884:Pou2f2'
| ID |
608938 |
| 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 |
045936-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7884 (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 24815489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 93
(M93V)
|
| 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 benign
Transcript: ENSMUST00000098679
AA Change: M115V
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000096276
Gene: ENSMUSG00000008496
AA Change: M115V
| 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
AA Change: M93V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000104051
Gene: ENSMUSG00000008496
AA Change: M93V
| 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: M93V
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104053
Gene: ENSMUSG00000008496
AA Change: M93V
| 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
AA Change: M115V
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104055
Gene: ENSMUSG00000008496
AA Change: M115V
| 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: ENSMUST00000108418
AA Change: M93V
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104056
Gene: ENSMUSG00000008496
AA Change: M93V
| 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 |
unknown
Transcript: ENSMUST00000147146
AA Change: M59V
|
| SMART Domains |
Protein: ENSMUSP00000118307
Gene: ENSMUSG00000008496
AA Change: M59V
| 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 benign
Transcript: ENSMUST00000175774
AA Change: M93V
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135075
Gene: ENSMUSG00000008496
AA Change: M93V
| 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: M93V
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135326
Gene: ENSMUSG00000008496
AA Change: M93V
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
T |
C |
16: 38,422,593 (GRCm39) |
T1158A |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,171,810 (GRCm39) |
E1530G |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,533,264 (GRCm39) |
F113S |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,011,418 (GRCm39) |
N2545S |
probably damaging |
Het |
| Ctsh |
A |
G |
9: 89,943,476 (GRCm39) |
D49G |
probably benign |
Het |
| Cyp7a1 |
T |
A |
4: 6,272,697 (GRCm39) |
Y172F |
probably benign |
Het |
| Ddx52 |
A |
G |
11: 83,842,911 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
G |
18: 50,026,474 (GRCm39) |
T1861A |
possibly damaging |
Het |
| Dnah7c |
C |
T |
1: 46,830,929 (GRCm39) |
L3813F |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,307,307 (GRCm39) |
I68V |
probably damaging |
Het |
| Etnk2 |
T |
C |
1: 133,293,438 (GRCm39) |
V127A |
possibly damaging |
Het |
| Fank1 |
G |
C |
7: 133,478,554 (GRCm39) |
R206P |
probably damaging |
Het |
| Fbxl9 |
A |
G |
8: 106,042,165 (GRCm39) |
I221T |
probably benign |
Het |
| Fbxw27 |
G |
A |
9: 109,618,468 (GRCm39) |
R73* |
probably null |
Het |
| Fndc1 |
A |
T |
17: 7,992,029 (GRCm39) |
S556T |
unknown |
Het |
| Gnb3 |
T |
C |
6: 124,814,055 (GRCm39) |
T178A |
probably benign |
Het |
| H2bc12 |
T |
C |
13: 22,220,225 (GRCm39) |
S57P |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,677,174 (GRCm39) |
L326Q |
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,393,344 (GRCm39) |
|
probably benign |
Het |
| Kcnma1 |
G |
A |
14: 23,387,057 (GRCm39) |
P995L |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,076,430 (GRCm39) |
G1068D |
|
Het |
| Lats1 |
A |
T |
10: 7,573,290 (GRCm39) |
K125* |
probably null |
Het |
| Lipg |
C |
T |
18: 75,081,078 (GRCm39) |
M334I |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,518,909 (GRCm39) |
E1905V |
probably damaging |
Het |
| Lpin1 |
C |
T |
12: 16,612,370 (GRCm39) |
G544D |
|
Het |
| Lyst |
A |
T |
13: 13,882,268 (GRCm39) |
N2853I |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,136,114 (GRCm39) |
I525T |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,261,216 (GRCm39) |
D170E |
probably benign |
Het |
| Mrpl34 |
T |
C |
8: 71,917,911 (GRCm39) |
V28A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,990 (GRCm39) |
V4101E |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myo1f |
A |
G |
17: 33,817,270 (GRCm39) |
Y771C |
probably damaging |
Het |
| Nr2f1 |
G |
A |
13: 78,337,988 (GRCm39) |
T376I |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,461,068 (GRCm39) |
T2535A |
probably damaging |
Het |
| Nup98 |
T |
A |
7: 101,825,556 (GRCm39) |
T428S |
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,630 (GRCm39) |
M227V |
probably damaging |
Het |
| Osbpl7 |
A |
C |
11: 96,951,283 (GRCm39) |
I657L |
possibly damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,205,730 (GRCm39) |
V572A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,445,624 (GRCm39) |
V537A |
probably benign |
Het |
| Ppip5k2 |
T |
C |
1: 97,668,207 (GRCm39) |
T640A |
probably benign |
Het |
| Ptar1 |
C |
T |
19: 23,686,158 (GRCm39) |
P157S |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,973,933 (GRCm39) |
D1471V |
possibly damaging |
Het |
| Rgs7 |
A |
T |
1: 174,977,216 (GRCm39) |
|
probably null |
Het |
| Rhag |
A |
G |
17: 41,142,536 (GRCm39) |
Y247C |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,129,383 (GRCm39) |
I305T |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,633,617 (GRCm39) |
I372T |
probably benign |
Het |
| Scn3a |
G |
T |
2: 65,366,859 (GRCm39) |
D54E |
probably damaging |
Het |
| Senp2 |
A |
G |
16: 21,832,981 (GRCm39) |
T90A |
probably benign |
Het |
| Serpinh1 |
C |
T |
7: 98,998,495 (GRCm39) |
R45H |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,058,703 (GRCm39) |
V152A |
probably benign |
Het |
| Sipa1l2 |
T |
A |
8: 126,174,337 (GRCm39) |
M1314L |
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,759,002 (GRCm39) |
F63S |
possibly damaging |
Het |
| Slc25a40 |
T |
A |
5: 8,492,509 (GRCm39) |
L133Q |
probably damaging |
Het |
| Slc6a16 |
A |
G |
7: 44,908,771 (GRCm39) |
E117G |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,669,212 (GRCm39) |
S1245P |
possibly damaging |
Het |
| Tmem235 |
G |
A |
11: 117,755,033 (GRCm39) |
V162M |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,221,584 (GRCm39) |
T2774A |
probably benign |
Het |
| Trav10n |
A |
T |
14: 53,359,587 (GRCm39) |
H6L |
probably benign |
Het |
| Trav13d-3 |
G |
A |
14: 53,270,704 (GRCm39) |
W55* |
probably null |
Het |
| Zfp654 |
G |
T |
16: 64,672,011 (GRCm39) |
A2E |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably 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 |
|
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'- GATCTGAGTCAAGCAGTTAGGAGAC -3'
(R):5'- TGGTTCACAGGTGGGCATTC -3'
Sequencing Primer
(F):5'- ACACATCTTTTACAGGGCGG -3'
(R):5'- CACAGGTGGGCATTCTCTCTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation