Incidental Mutation 'R4076:Pou2f2'
ID |
500479 |
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 |
040975-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4076 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24790111-24879292 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24796713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 270
(T270A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104053
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098679]
[ENSMUST00000108413]
[ENSMUST00000108415]
[ENSMUST00000108416]
[ENSMUST00000108417]
[ENSMUST00000108418]
[ENSMUST00000176408]
[ENSMUST00000175774]
[ENSMUST00000147146]
|
AlphaFold |
Q00196 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098679
AA Change: T276A
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000096276 Gene: ENSMUSG00000008496 AA Change: T276A
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: T254A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104051 Gene: ENSMUSG00000008496 AA Change: T254A
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: T270A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104053 Gene: ENSMUSG00000008496 AA Change: T270A
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: T215A
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104054 Gene: ENSMUSG00000008496 AA Change: T215A
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: T276A
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104055 Gene: ENSMUSG00000008496 AA Change: T276A
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: T254A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000104056 Gene: ENSMUSG00000008496 AA Change: T254A
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 damaging
Transcript: ENSMUST00000176408
AA Change: T270A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135326 Gene: ENSMUSG00000008496 AA Change: T270A
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: ENSMUST00000175774
AA Change: T254A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000135075 Gene: ENSMUSG00000008496 AA Change: T254A
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: 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 |
noncoding transcript
Transcript: ENSMUST00000184150
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Anxa5 |
T |
C |
3: 36,504,529 (GRCm39) |
I277V |
probably benign |
Het |
Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
Cd48 |
T |
A |
1: 171,523,451 (GRCm39) |
V98D |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
Dnali1 |
T |
C |
4: 124,953,263 (GRCm39) |
D188G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
Fras1 |
G |
C |
5: 96,891,017 (GRCm39) |
D2849H |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,458,181 (GRCm39) |
R47Q |
possibly damaging |
Het |
Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Ltb4r2 |
A |
T |
14: 56,000,398 (GRCm39) |
R340W |
probably benign |
Het |
Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
Nars2 |
T |
A |
7: 96,607,301 (GRCm39) |
S91T |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
Osgin1 |
A |
C |
8: 120,171,772 (GRCm39) |
S189R |
possibly damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Pik3c2g |
A |
T |
6: 139,798,589 (GRCm39) |
N373I |
probably damaging |
Het |
Rad51b |
T |
G |
12: 79,361,656 (GRCm39) |
S122R |
probably damaging |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Tfb1m |
T |
A |
17: 3,571,945 (GRCm39) |
R257W |
probably damaging |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGAGCTGAGTTCTTCCACC -3'
(R):5'- AAACGACCATTTCCCGCTTCG -3'
Sequencing Primer
(F):5'- GAGCTGAGTTCTTCCACCTGATAAC -3'
(R):5'- TTCGAGGCCCTCAACCTGAG -3'
|
Posted On |
2017-12-01 |