Incidental Mutation 'R1328:Pou4f2'
ID |
157282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pou4f2
|
Ensembl Gene |
ENSMUSG00000031688 |
Gene Name |
POU domain, class 4, transcription factor 2 |
Synonyms |
Pou4f-rs1, Brn-3b, Brn3b, Brn-3.2, mBrn3-3R |
MMRRC Submission |
039394-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1328 (G1)
|
Quality Score |
134 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
79159639-79163274 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79162759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 92
(A92V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034115]
|
AlphaFold |
Q63934 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034115
AA Change: A92V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000034115 Gene: ENSMUSG00000031688 AA Change: A92V
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
86 |
N/A |
INTRINSIC |
low complexity region
|
109 |
118 |
N/A |
INTRINSIC |
low complexity region
|
127 |
137 |
N/A |
INTRINSIC |
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
POU
|
252 |
329 |
1.33e-51 |
SMART |
HOX
|
347 |
409 |
3.31e-18 |
SMART |
|
Meta Mutation Damage Score |
0.0698 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
Validation Efficiency |
100% (37/37) |
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 member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011] PHENOTYPE: Homozygote null mice have a 70% reduction in retinal ganglion cells, a thin retina, and an optic nerve with a decreased diameter and disorganized axons. Eyes have miotic pupils and defective optokinetic reflexes that prevent photo-entrainment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp4 |
C |
T |
7: 43,906,516 (GRCm39) |
|
probably null |
Het |
Bcap29 |
T |
C |
12: 31,680,807 (GRCm39) |
I60V |
probably benign |
Het |
Ccdc71 |
T |
A |
9: 108,340,148 (GRCm39) |
|
probably benign |
Het |
Ccnb1ip1 |
A |
T |
14: 51,027,382 (GRCm39) |
V240E |
probably benign |
Het |
Copa |
C |
T |
1: 171,949,258 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
G |
T |
9: 54,303,533 (GRCm39) |
Q2314K |
probably benign |
Het |
Fam181b |
T |
C |
7: 92,729,437 (GRCm39) |
I70T |
probably damaging |
Het |
Fbxl14 |
T |
C |
6: 119,457,347 (GRCm39) |
L176P |
possibly damaging |
Het |
Fip1l1 |
T |
A |
5: 74,706,796 (GRCm39) |
F144L |
possibly damaging |
Het |
Flnc |
T |
C |
6: 29,438,612 (GRCm39) |
W169R |
probably damaging |
Het |
H2-M3 |
T |
C |
17: 37,581,925 (GRCm39) |
V127A |
possibly damaging |
Het |
Il23r |
T |
A |
6: 67,468,802 (GRCm39) |
|
probably benign |
Het |
Krt18 |
C |
T |
15: 101,939,169 (GRCm39) |
A251V |
probably benign |
Het |
Mast1 |
A |
G |
8: 85,644,617 (GRCm39) |
|
probably benign |
Het |
Or6c202 |
A |
G |
10: 128,996,293 (GRCm39) |
S187P |
possibly damaging |
Het |
Or9i14 |
G |
A |
19: 13,792,900 (GRCm39) |
T18I |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,361,392 (GRCm39) |
Y481H |
probably benign |
Het |
Polr3e |
C |
T |
7: 120,533,046 (GRCm39) |
|
probably benign |
Het |
Pramel5 |
A |
G |
4: 143,998,058 (GRCm39) |
L395P |
probably damaging |
Het |
Prmt9 |
T |
C |
8: 78,299,283 (GRCm39) |
I659T |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rrp36 |
T |
A |
17: 46,983,705 (GRCm39) |
K36* |
probably null |
Het |
Sag |
G |
A |
1: 87,738,016 (GRCm39) |
|
probably benign |
Het |
Setd7 |
T |
C |
3: 51,450,240 (GRCm39) |
Y62C |
possibly damaging |
Het |
Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
Sox13 |
T |
C |
1: 133,311,555 (GRCm39) |
D559G |
probably damaging |
Het |
Srd5a1 |
T |
A |
13: 69,723,310 (GRCm39) |
Y236F |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,692,657 (GRCm39) |
I570F |
possibly damaging |
Het |
Tbc1d31 |
T |
C |
15: 57,805,859 (GRCm39) |
|
probably benign |
Het |
Trim33 |
A |
G |
3: 103,260,913 (GRCm39) |
T1064A |
possibly damaging |
Het |
Vmn1r8 |
T |
C |
6: 57,013,278 (GRCm39) |
S110P |
possibly damaging |
Het |
Vmn2r118 |
C |
A |
17: 55,915,620 (GRCm39) |
M443I |
probably benign |
Het |
|
Other mutations in Pou4f2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01413:Pou4f2
|
APN |
8 |
79,161,734 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01578:Pou4f2
|
APN |
8 |
79,162,284 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02750:Pou4f2
|
APN |
8 |
79,161,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Pou4f2
|
UTSW |
8 |
79,162,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R0597:Pou4f2
|
UTSW |
8 |
79,161,869 (GRCm39) |
missense |
probably benign |
0.00 |
R1680:Pou4f2
|
UTSW |
8 |
79,161,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R2376:Pou4f2
|
UTSW |
8 |
79,162,814 (GRCm39) |
missense |
unknown |
|
R3980:Pou4f2
|
UTSW |
8 |
79,162,067 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4770:Pou4f2
|
UTSW |
8 |
79,163,030 (GRCm39) |
missense |
unknown |
|
R4771:Pou4f2
|
UTSW |
8 |
79,161,865 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5288:Pou4f2
|
UTSW |
8 |
79,162,958 (GRCm39) |
missense |
unknown |
|
R5395:Pou4f2
|
UTSW |
8 |
79,161,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R5930:Pou4f2
|
UTSW |
8 |
79,163,020 (GRCm39) |
missense |
unknown |
|
R6036:Pou4f2
|
UTSW |
8 |
79,162,103 (GRCm39) |
missense |
probably damaging |
0.96 |
R6036:Pou4f2
|
UTSW |
8 |
79,162,103 (GRCm39) |
missense |
probably damaging |
0.96 |
R6883:Pou4f2
|
UTSW |
8 |
79,162,307 (GRCm39) |
missense |
probably benign |
0.01 |
R7300:Pou4f2
|
UTSW |
8 |
79,162,735 (GRCm39) |
splice site |
probably null |
|
R7820:Pou4f2
|
UTSW |
8 |
79,163,131 (GRCm39) |
start gained |
probably benign |
|
R7983:Pou4f2
|
UTSW |
8 |
79,161,568 (GRCm39) |
missense |
probably benign |
0.16 |
R8944:Pou4f2
|
UTSW |
8 |
79,161,932 (GRCm39) |
missense |
|
|
R9171:Pou4f2
|
UTSW |
8 |
79,162,748 (GRCm39) |
missense |
probably benign |
0.03 |
Z1088:Pou4f2
|
UTSW |
8 |
79,162,230 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Pou4f2
|
UTSW |
8 |
79,161,809 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCCTGAAACTCGGCAGCGAGAAG -3'
(R):5'- TGATGATGTCCCTGAACAGCAAGC -3'
Sequencing Primer
(F):5'- caacacaacacaacacaacac -3'
(R):5'- AGTACTCGGCGCTACACAG -3'
|
Posted On |
2014-02-18 |