Incidental Mutation 'R2843:Pknox2'
ID |
254393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pknox2
|
Ensembl Gene |
ENSMUSG00000035934 |
Gene Name |
Pbx/knotted 1 homeobox 2 |
Synonyms |
D230005H23Rik, Prep2 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.740)
|
Stock # |
R2843 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
36802275-37058638 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36805624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 395
(N395S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039674]
[ENSMUST00000080754]
[ENSMUST00000175938]
[ENSMUST00000177218]
|
AlphaFold |
Q8BG99 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039674
AA Change: N395S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000035806 Gene: ENSMUSG00000035934 AA Change: N395S
Domain | Start | End | E-Value | Type |
HOX
|
288 |
353 |
8.54e-12 |
SMART |
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
coiled coil region
|
428 |
465 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080754
AA Change: N395S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000079578 Gene: ENSMUSG00000035934 AA Change: N395S
Domain | Start | End | E-Value | Type |
HOX
|
288 |
353 |
8.54e-12 |
SMART |
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
coiled coil region
|
428 |
465 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175938
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176471
AA Change: N395S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135249 Gene: ENSMUSG00000035934 AA Change: N395S
Domain | Start | End | E-Value | Type |
Pfam:Meis_PKNOX_N
|
96 |
181 |
4.6e-42 |
PFAM |
HOX
|
288 |
353 |
8.54e-12 |
SMART |
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
coiled coil region
|
428 |
465 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177080
|
SMART Domains |
Protein: ENSMUSP00000135444 Gene: ENSMUSG00000035934
Domain | Start | End | E-Value | Type |
HOX
|
259 |
324 |
4.4e-14 |
SMART |
low complexity region
|
386 |
395 |
N/A |
INTRINSIC |
coiled coil region
|
399 |
436 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177218
AA Change: N395S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135581 Gene: ENSMUSG00000035934 AA Change: N395S
Domain | Start | End | E-Value | Type |
HOX
|
288 |
353 |
8.54e-12 |
SMART |
low complexity region
|
415 |
424 |
N/A |
INTRINSIC |
coiled coil region
|
428 |
465 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afm |
C |
T |
5: 90,674,324 (GRCm39) |
R279* |
probably null |
Het |
Arhgef18 |
A |
G |
8: 3,414,634 (GRCm39) |
E4G |
possibly damaging |
Het |
Fbxw7 |
G |
A |
3: 84,883,527 (GRCm39) |
R486Q |
probably damaging |
Het |
Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
Hmg20b |
G |
C |
10: 81,182,404 (GRCm39) |
R209G |
probably benign |
Het |
Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
Jade1 |
T |
C |
3: 41,559,280 (GRCm39) |
Y454H |
probably damaging |
Het |
Kcnn3 |
CGCAGCAGCAGCAGCAGCAGCAG |
CGCAGCAGCAGCAGCAGCAG |
3: 89,427,972 (GRCm39) |
|
probably benign |
Het |
Pdlim2 |
C |
T |
14: 70,403,549 (GRCm39) |
V288I |
probably benign |
Het |
Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
Rad51 |
T |
C |
2: 118,949,114 (GRCm39) |
V38A |
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Vmn2r18 |
T |
A |
5: 151,485,749 (GRCm39) |
T582S |
probably damaging |
Het |
Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
Zfp84 |
T |
G |
7: 29,474,758 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pknox2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01894:Pknox2
|
APN |
9 |
36,835,038 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02019:Pknox2
|
APN |
9 |
36,834,929 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02706:Pknox2
|
APN |
9 |
36,847,675 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03018:Pknox2
|
APN |
9 |
36,865,993 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03374:Pknox2
|
APN |
9 |
36,834,966 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4494001:Pknox2
|
UTSW |
9 |
36,865,987 (GRCm39) |
critical splice donor site |
probably null |
|
R0585:Pknox2
|
UTSW |
9 |
36,821,056 (GRCm39) |
splice site |
probably benign |
|
R1786:Pknox2
|
UTSW |
9 |
36,820,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R1843:Pknox2
|
UTSW |
9 |
36,866,127 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1861:Pknox2
|
UTSW |
9 |
36,834,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R2252:Pknox2
|
UTSW |
9 |
36,821,816 (GRCm39) |
missense |
probably benign |
0.12 |
R2696:Pknox2
|
UTSW |
9 |
36,820,987 (GRCm39) |
nonsense |
probably null |
|
R4576:Pknox2
|
UTSW |
9 |
36,834,844 (GRCm39) |
intron |
probably benign |
|
R4632:Pknox2
|
UTSW |
9 |
36,805,709 (GRCm39) |
missense |
probably benign |
0.00 |
R4705:Pknox2
|
UTSW |
9 |
36,834,934 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4754:Pknox2
|
UTSW |
9 |
36,821,016 (GRCm39) |
missense |
probably damaging |
0.98 |
R5974:Pknox2
|
UTSW |
9 |
36,847,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R5984:Pknox2
|
UTSW |
9 |
36,835,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R7014:Pknox2
|
UTSW |
9 |
36,820,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Pknox2
|
UTSW |
9 |
36,868,364 (GRCm39) |
intron |
probably benign |
|
R7488:Pknox2
|
UTSW |
9 |
36,866,127 (GRCm39) |
missense |
probably benign |
0.26 |
R7769:Pknox2
|
UTSW |
9 |
36,806,602 (GRCm39) |
splice site |
probably null |
|
R8221:Pknox2
|
UTSW |
9 |
36,821,040 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8296:Pknox2
|
UTSW |
9 |
36,822,459 (GRCm39) |
missense |
probably benign |
0.31 |
R8470:Pknox2
|
UTSW |
9 |
36,834,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R8677:Pknox2
|
UTSW |
9 |
36,821,887 (GRCm39) |
missense |
probably damaging |
0.97 |
R8906:Pknox2
|
UTSW |
9 |
36,804,167 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9026:Pknox2
|
UTSW |
9 |
36,821,044 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9401:Pknox2
|
UTSW |
9 |
36,835,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R9468:Pknox2
|
UTSW |
9 |
36,822,495 (GRCm39) |
missense |
probably benign |
0.00 |
R9565:Pknox2
|
UTSW |
9 |
36,835,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R9582:Pknox2
|
UTSW |
9 |
36,804,252 (GRCm39) |
missense |
probably damaging |
0.97 |
RF016:Pknox2
|
UTSW |
9 |
36,820,905 (GRCm39) |
critical splice donor site |
probably benign |
|
RF061:Pknox2
|
UTSW |
9 |
36,820,905 (GRCm39) |
critical splice donor site |
probably benign |
|
X0063:Pknox2
|
UTSW |
9 |
36,835,065 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCACAGAACATCCCTTC -3'
(R):5'- GTGTCTAACCAGGTCTTCCC -3'
Sequencing Primer
(F):5'- TGCACAGAACATCCCTTCTTAGTAAG -3'
(R):5'- TAACCAGGTCTTCCCCATCAC -3'
|
Posted On |
2014-12-04 |