Incidental Mutation 'R0585:Pknox2'
ID |
55716 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pknox2
|
Ensembl Gene |
ENSMUSG00000035934 |
Gene Name |
Pbx/knotted 1 homeobox 2 |
Synonyms |
D230005H23Rik, Prep2 |
MMRRC Submission |
038775-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.740)
|
Stock # |
R0585 (G1)
|
Quality Score |
194 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
36802275-37058638 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 36821056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000035806 Gene: ENSMUSG00000035934
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
|
SMART Domains |
Protein: ENSMUSP00000079578 Gene: ENSMUSG00000035934
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
|
SMART Domains |
Protein: ENSMUSP00000135249 Gene: ENSMUSG00000035934
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
|
SMART Domains |
Protein: ENSMUSP00000135581 Gene: ENSMUSG00000035934
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.2%
|
Validation Efficiency |
100% (38/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brdt |
T |
G |
5: 107,504,748 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
C |
T |
10: 41,462,375 (GRCm39) |
C1474Y |
probably benign |
Het |
Ces2e |
T |
C |
8: 105,656,453 (GRCm39) |
S228P |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,738,386 (GRCm39) |
H41N |
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,525,203 (GRCm39) |
I169F |
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,057,686 (GRCm39) |
K107R |
probably benign |
Het |
Cyp2c67 |
T |
A |
19: 39,627,138 (GRCm39) |
N231Y |
possibly damaging |
Het |
Eps8l3 |
G |
C |
3: 107,788,513 (GRCm39) |
D33H |
probably damaging |
Het |
Evi5 |
T |
C |
5: 107,961,402 (GRCm39) |
|
probably benign |
Het |
Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
Gm3993 |
T |
A |
12: 20,122,149 (GRCm39) |
|
probably null |
Het |
Gtf2ird1 |
A |
C |
5: 134,405,796 (GRCm39) |
L28R |
probably damaging |
Het |
Hsf4 |
A |
G |
8: 105,997,663 (GRCm39) |
D75G |
probably damaging |
Het |
Iqca1l |
A |
G |
5: 24,755,721 (GRCm39) |
V267A |
probably benign |
Het |
Larp4b |
A |
G |
13: 9,197,529 (GRCm39) |
T249A |
probably damaging |
Het |
Larp4b |
A |
G |
13: 9,220,737 (GRCm39) |
D578G |
probably benign |
Het |
Lyz3 |
T |
A |
10: 117,074,356 (GRCm39) |
I44F |
possibly damaging |
Het |
Matn3 |
A |
T |
12: 9,011,103 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
A |
15: 25,736,541 (GRCm39) |
Y428N |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,459,527 (GRCm39) |
D661E |
probably damaging |
Het |
Nktr |
A |
G |
9: 121,583,346 (GRCm39) |
|
probably benign |
Het |
Npbwr1 |
G |
A |
1: 5,986,677 (GRCm39) |
T279I |
possibly damaging |
Het |
Or52n3 |
A |
C |
7: 104,530,706 (GRCm39) |
H264P |
probably damaging |
Het |
Osmr |
T |
C |
15: 6,867,274 (GRCm39) |
I341V |
probably benign |
Het |
Pan2 |
T |
C |
10: 128,146,384 (GRCm39) |
|
probably null |
Het |
Pla2g2d |
A |
C |
4: 138,506,704 (GRCm39) |
D50A |
probably benign |
Het |
Ptprk |
C |
T |
10: 28,451,664 (GRCm39) |
L1051F |
probably damaging |
Het |
Rap1gds1 |
G |
A |
3: 138,727,633 (GRCm39) |
T59M |
probably benign |
Het |
Rps5 |
T |
C |
7: 12,659,332 (GRCm39) |
V41A |
possibly damaging |
Het |
Ryr1 |
G |
T |
7: 28,735,501 (GRCm39) |
D4092E |
probably damaging |
Het |
Spic |
T |
C |
10: 88,511,905 (GRCm39) |
Y117C |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,072,367 (GRCm39) |
|
probably null |
Het |
Tlr9 |
C |
T |
9: 106,102,275 (GRCm39) |
T522I |
probably benign |
Het |
Tspan3 |
A |
T |
9: 56,053,216 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,703,503 (GRCm39) |
|
probably benign |
Het |
Zfp773 |
T |
A |
7: 7,135,574 (GRCm39) |
I341L |
probably benign |
Het |
Zmat3 |
G |
A |
3: 32,415,254 (GRCm39) |
P19S |
probably damaging |
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 |
|
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 |
|
R2843:Pknox2
|
UTSW |
9 |
36,805,624 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TGCAATGGGCTATTTATCACCCCTTG -3'
(R):5'- CAGCTCCAACTACTCTGCACTTCAG -3'
Sequencing Primer
(F):5'- acacacacaaatgcacacc -3'
(R):5'- accatcacagccaacctac -3'
|
Posted On |
2013-07-11 |