Incidental Mutation 'R5995:Pou2f2'
ID |
481063 |
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 |
044174-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5995 (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 G
at 24796869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 236
(K236Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135075
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098679]
[ENSMUST00000108413]
[ENSMUST00000108415]
[ENSMUST00000108416]
[ENSMUST00000108417]
[ENSMUST00000108418]
[ENSMUST00000147146]
[ENSMUST00000176408]
[ENSMUST00000175774]
|
AlphaFold |
Q00196 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098679
AA Change: K258Q
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096276 Gene: ENSMUSG00000008496 AA Change: K258Q
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: K236Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104051 Gene: ENSMUSG00000008496 AA Change: K236Q
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: K252Q
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000104053 Gene: ENSMUSG00000008496 AA Change: K252Q
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
AA Change: K197Q
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000104054 Gene: ENSMUSG00000008496 AA Change: K197Q
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: K258Q
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000104055 Gene: ENSMUSG00000008496 AA Change: K258Q
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: ENSMUST00000108418
AA Change: K236Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104056 Gene: ENSMUSG00000008496 AA Change: K236Q
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: ENSMUST00000176408
AA Change: K252Q
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135326 Gene: ENSMUSG00000008496 AA Change: K252Q
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 damaging
Transcript: ENSMUST00000175774
AA Change: K236Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135075 Gene: ENSMUSG00000008496 AA Change: K236Q
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 |
noncoding transcript
Transcript: ENSMUST00000184150
|
Meta Mutation Damage Score |
0.6491 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
Validation Efficiency |
100% (56/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
Adgrb2 |
C |
A |
4: 129,910,896 (GRCm39) |
A1104E |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,614,378 (GRCm39) |
V4005A |
probably benign |
Het |
Bend6 |
T |
C |
1: 33,917,520 (GRCm39) |
|
probably null |
Het |
Brwd1 |
A |
T |
16: 95,865,987 (GRCm39) |
V265E |
probably damaging |
Het |
Ccdc96 |
A |
G |
5: 36,643,718 (GRCm39) |
I575V |
probably damaging |
Het |
Cd109 |
A |
T |
9: 78,607,561 (GRCm39) |
I1094L |
probably benign |
Het |
Cd44 |
A |
G |
2: 102,692,015 (GRCm39) |
V91A |
probably damaging |
Het |
Cdv3 |
C |
G |
9: 103,241,202 (GRCm39) |
G122R |
probably damaging |
Het |
Ces2c |
T |
A |
8: 105,577,533 (GRCm39) |
V272D |
possibly damaging |
Het |
Colgalt1 |
T |
A |
8: 72,075,754 (GRCm39) |
M467K |
probably damaging |
Het |
Crtam |
G |
A |
9: 40,905,836 (GRCm39) |
T31M |
possibly damaging |
Het |
Cyp7a1 |
C |
T |
4: 6,272,371 (GRCm39) |
V281M |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,659,829 (GRCm39) |
N726K |
probably benign |
Het |
Dok6 |
T |
C |
18: 89,439,142 (GRCm39) |
E232G |
possibly damaging |
Het |
Gm12185 |
T |
C |
11: 48,806,540 (GRCm39) |
E217G |
probably benign |
Het |
Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
Gria1 |
A |
T |
11: 57,180,111 (GRCm39) |
Y618F |
probably damaging |
Het |
H2-T22 |
A |
G |
17: 36,352,377 (GRCm39) |
Y183H |
probably benign |
Het |
Hace1 |
A |
T |
10: 45,546,487 (GRCm39) |
I374L |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,787,694 (GRCm39) |
T132S |
probably benign |
Het |
Hoxa3 |
T |
A |
6: 52,147,263 (GRCm39) |
|
probably benign |
Het |
Il27 |
A |
C |
7: 126,188,535 (GRCm39) |
|
probably benign |
Het |
Klhdc1 |
T |
C |
12: 69,297,548 (GRCm39) |
Y40H |
probably damaging |
Het |
Klhl33 |
T |
G |
14: 51,130,108 (GRCm39) |
E462A |
possibly damaging |
Het |
Myh10 |
T |
C |
11: 68,705,809 (GRCm39) |
I1979T |
probably benign |
Het |
Nfkbil1 |
G |
T |
17: 35,439,774 (GRCm39) |
F246L |
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,072,572 (GRCm39) |
F424I |
probably damaging |
Het |
Nod1 |
A |
G |
6: 54,921,539 (GRCm39) |
Y260H |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,433,898 (GRCm39) |
L69P |
probably damaging |
Het |
Onecut2 |
G |
T |
18: 64,474,619 (GRCm39) |
R390L |
probably damaging |
Het |
Oprm1 |
A |
C |
10: 6,782,520 (GRCm39) |
M388L |
probably benign |
Het |
Or10q3 |
A |
T |
19: 11,848,226 (GRCm39) |
I118N |
possibly damaging |
Het |
Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
Or1o3 |
C |
A |
17: 37,574,539 (GRCm39) |
Q5H |
probably benign |
Het |
Or5aq1 |
T |
C |
2: 86,966,200 (GRCm39) |
N155S |
probably damaging |
Het |
Or5b96 |
A |
C |
19: 12,867,961 (GRCm39) |
|
probably null |
Het |
Or8g53 |
A |
G |
9: 39,683,988 (GRCm39) |
V36A |
probably benign |
Het |
Pcdhgc5 |
T |
A |
18: 37,954,113 (GRCm39) |
Y462* |
probably null |
Het |
Pex1 |
T |
A |
5: 3,657,704 (GRCm39) |
M425K |
possibly damaging |
Het |
Plec |
A |
T |
15: 76,070,105 (GRCm39) |
Y1001N |
probably damaging |
Het |
Poglut3 |
T |
C |
9: 53,307,195 (GRCm39) |
Y380H |
probably damaging |
Het |
Rbm20 |
G |
A |
19: 53,839,698 (GRCm39) |
E896K |
possibly damaging |
Het |
Sh3tc2 |
T |
A |
18: 62,123,081 (GRCm39) |
L614Q |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,751,029 (GRCm39) |
I339F |
unknown |
Het |
Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
Snrk |
A |
G |
9: 121,986,288 (GRCm39) |
N219S |
probably damaging |
Het |
Supt20 |
T |
C |
3: 54,616,474 (GRCm39) |
S245P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,591,636 (GRCm39) |
I21011T |
probably damaging |
Het |
Vmn2r11 |
T |
A |
5: 109,194,921 (GRCm39) |
I802F |
probably damaging |
Het |
Vmn2r92 |
T |
C |
17: 18,389,213 (GRCm39) |
|
probably null |
Het |
Ythdc2 |
T |
A |
18: 45,019,320 (GRCm39) |
M1363K |
probably damaging |
Het |
Zan |
T |
C |
5: 137,377,071 (GRCm39) |
|
probably benign |
Het |
Zfp521 |
C |
A |
18: 13,850,681 (GRCm39) |
C1261F |
probably damaging |
Het |
Zfp980 |
A |
T |
4: 145,428,479 (GRCm39) |
K403* |
probably null |
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 |
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'- TGAATCCACAGACATAGTCTCTG -3'
(R):5'- ATCAAGCTGGGCTTCACACAG -3'
Sequencing Primer
(F):5'- CAGACATAGTCTCTGTGAAAACAG -3'
(R):5'- TGGGCTTCACACAGGTCTG -3'
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Posted On |
2017-06-26 |