Incidental Mutation 'R8554:Pou2f2'
ID |
660021 |
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 |
068517-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8554 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
24790111-24879292 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
C to A
at 24814981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135326
(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
|
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 |
probably benign
Transcript: ENSMUST00000108418
|
SMART Domains |
Protein: ENSMUSP00000104056 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 |
low complexity region
|
490 |
509 |
N/A |
INTRINSIC |
low complexity region
|
533 |
563 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000147146
AA Change: G132V
|
SMART Domains |
Protein: ENSMUSP00000118307 Gene: ENSMUSG00000008496 AA Change: G132V
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
|
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 |
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
G |
A |
13: 41,969,636 (GRCm39) |
T89I |
possibly damaging |
Het |
Aopep |
T |
A |
13: 63,444,711 (GRCm39) |
Y94N |
possibly damaging |
Het |
Apc |
T |
C |
18: 34,445,999 (GRCm39) |
V947A |
probably damaging |
Het |
Apob |
A |
C |
12: 8,037,830 (GRCm39) |
K334N |
probably damaging |
Het |
Camk2d |
A |
T |
3: 126,564,448 (GRCm39) |
Q119L |
possibly damaging |
Het |
Ccdc60 |
A |
T |
5: 116,328,171 (GRCm39) |
F98I |
probably damaging |
Het |
Cd47 |
A |
G |
16: 49,688,304 (GRCm39) |
T22A |
probably benign |
Het |
Crat |
A |
G |
2: 30,300,035 (GRCm39) |
V115A |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,507,538 (GRCm39) |
M2992V |
probably benign |
Het |
Dsg4 |
T |
A |
18: 20,586,100 (GRCm39) |
N263K |
probably damaging |
Het |
Eln |
A |
C |
5: 134,738,964 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,523,228 (GRCm39) |
E1284G |
unknown |
Het |
Fam193a |
T |
A |
5: 34,633,115 (GRCm39) |
M122K |
probably benign |
Het |
Fcgr1 |
A |
T |
3: 96,199,788 (GRCm39) |
W40R |
probably damaging |
Het |
Gm3486 |
T |
A |
14: 41,209,119 (GRCm39) |
Q84L |
probably damaging |
Het |
Golga2 |
G |
A |
2: 32,183,357 (GRCm39) |
D80N |
probably damaging |
Het |
Isg20 |
T |
C |
7: 78,566,425 (GRCm39) |
Y125H |
probably benign |
Het |
Kdf1 |
A |
G |
4: 133,256,188 (GRCm39) |
I302V |
probably damaging |
Het |
Kics2 |
T |
A |
10: 121,575,960 (GRCm39) |
I27N |
probably benign |
Het |
Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 41,234,495 (GRCm39) |
Q1038L |
probably benign |
Het |
Marchf6 |
G |
A |
15: 31,482,976 (GRCm39) |
H476Y |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,343,448 (GRCm39) |
E215G |
possibly damaging |
Het |
Or2aa1 |
A |
T |
11: 59,480,312 (GRCm39) |
L201Q |
possibly damaging |
Het |
Or2h15 |
T |
A |
17: 38,441,489 (GRCm39) |
Q198L |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,595 (GRCm39) |
T148A |
possibly damaging |
Het |
Pate11 |
A |
G |
9: 36,387,788 (GRCm39) |
I25V |
probably benign |
Het |
Pdlim2 |
T |
A |
14: 70,408,698 (GRCm39) |
T173S |
probably benign |
Het |
Pitpnb |
T |
C |
5: 111,494,372 (GRCm39) |
M74T |
probably benign |
Het |
Rab35 |
A |
C |
5: 115,783,690 (GRCm39) |
|
probably null |
Het |
Rasef |
A |
T |
4: 73,645,844 (GRCm39) |
D508E |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,682,838 (GRCm39) |
S319P |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rgl3 |
A |
G |
9: 21,900,159 (GRCm39) |
S44P |
probably benign |
Het |
Rnf214 |
C |
A |
9: 45,778,797 (GRCm39) |
|
probably null |
Het |
Rpsa |
T |
C |
9: 119,958,317 (GRCm39) |
V76A |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Senp7 |
T |
C |
16: 55,978,973 (GRCm39) |
V529A |
probably benign |
Het |
Siglecg |
C |
T |
7: 43,058,320 (GRCm39) |
S69L |
probably benign |
Het |
Sos1 |
G |
T |
17: 80,705,842 (GRCm39) |
T1243K |
probably damaging |
Het |
Tent5a |
T |
C |
9: 85,208,784 (GRCm39) |
D13G |
possibly damaging |
Het |
Tlcd3a |
A |
G |
11: 76,096,244 (GRCm39) |
H124R |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,106,084 (GRCm39) |
T872A |
probably benign |
Het |
Tnfrsf8 |
A |
C |
4: 145,023,511 (GRCm39) |
C107W |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,937,986 (GRCm39) |
Y913C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,568,376 (GRCm39) |
T19179A |
probably damaging |
Het |
Usp42 |
T |
A |
5: 143,706,137 (GRCm39) |
K294N |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,971 (GRCm39) |
C288S |
probably benign |
Het |
Vmn1r29 |
T |
A |
6: 58,285,191 (GRCm39) |
*304K |
probably null |
Het |
Vmn2r1 |
T |
C |
3: 63,997,334 (GRCm39) |
I330T |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,511,997 (GRCm39) |
I735V |
probably benign |
Het |
Vmn2r65 |
T |
C |
7: 84,595,960 (GRCm39) |
I241M |
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 |
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 |
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'- TCTCCCAAAGCTTCTGACAGTTG -3'
(R):5'- GCAACTCCTCCTTCAGCAAG -3'
Sequencing Primer
(F):5'- GCTTCTGACAGTTGCAGAAC -3'
(R):5'- TCCTTCAGCAAGCTCAGGC -3'
|
Posted On |
2021-01-18 |