Incidental Mutation 'R9067:Kpna2'
| ID |
689321 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kpna2
|
| Ensembl Gene |
ENSMUSG00000018362 |
| Gene Name |
karyopherin subunit alpha 2 |
| Synonyms |
2410044B12Rik, Importin alpha, m-importin, pendulin, m-importin-alpha-P1, Rch1, importin alpha 1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.933)
|
| Stock # |
R9067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
106879455-106890351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106882039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 262
(H262Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018506]
[ENSMUST00000124541]
[ENSMUST00000140362]
[ENSMUST00000144834]
[ENSMUST00000145331]
|
| AlphaFold |
P52293 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018506
AA Change: H262Q
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000018506
Gene: ENSMUSG00000018362
AA Change: H262Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
9 |
98 |
2.8e-32 |
PFAM |
|
ARM
|
108 |
149 |
8.95e-7 |
SMART |
|
ARM
|
151 |
191 |
1.33e-9 |
SMART |
|
ARM
|
193 |
231 |
2.7e-1 |
SMART |
|
ARM
|
241 |
280 |
1.74e-4 |
SMART |
|
ARM
|
282 |
322 |
1.92e-6 |
SMART |
|
ARM
|
324 |
364 |
2.76e-7 |
SMART |
|
ARM
|
366 |
406 |
3.45e-8 |
SMART |
|
ARM
|
409 |
449 |
2.17e-5 |
SMART |
|
Pfam:Arm_3
|
458 |
509 |
3.6e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124541
|
| SMART Domains |
Protein: ENSMUSP00000114636
Gene: ENSMUSG00000018362
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
5 |
99 |
5.7e-29 |
PFAM |
|
Pfam:Arm
|
108 |
149 |
4.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140362
|
| SMART Domains |
Protein: ENSMUSP00000118679
Gene: ENSMUSG00000018362
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
24 |
118 |
9.7e-30 |
PFAM |
|
Pfam:Arm
|
127 |
168 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144834
|
| SMART Domains |
Protein: ENSMUSP00000121655
Gene: ENSMUSG00000018362
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
5 |
99 |
5.1e-29 |
PFAM |
|
Pfam:Arm
|
108 |
149 |
4.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145331
|
| SMART Domains |
Protein: ENSMUSP00000122983
Gene: ENSMUSG00000018362
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IBB
|
5 |
74 |
1.9e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,522,493 (GRCm39) |
D202A |
probably damaging |
Het |
| Aass |
T |
A |
6: 23,077,123 (GRCm39) |
R745S |
probably benign |
Het |
| Adamts14 |
C |
T |
10: 61,085,439 (GRCm39) |
R195H |
possibly damaging |
Het |
| Afm |
T |
C |
5: 90,671,674 (GRCm39) |
F119L |
probably benign |
Het |
| Alox5ap |
T |
A |
5: 149,222,190 (GRCm39) |
V93E |
probably damaging |
Het |
| Ascl3 |
G |
A |
7: 109,327,104 (GRCm39) |
P72S |
probably benign |
Het |
| Cacnb1 |
C |
A |
11: 97,896,131 (GRCm39) |
D386Y |
probably damaging |
Het |
| Ccdc121rt3 |
T |
G |
5: 112,502,706 (GRCm39) |
I333L |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,485 (GRCm39) |
E2786G |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,951,107 (GRCm39) |
K227N |
possibly damaging |
Het |
| Cyp4f13 |
C |
G |
17: 33,143,801 (GRCm39) |
E508Q |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,116,186 (GRCm39) |
L843Q |
probably damaging |
Het |
| Elk4 |
T |
G |
1: 131,942,143 (GRCm39) |
I5S |
possibly damaging |
Het |
| Erc1 |
A |
T |
6: 119,774,036 (GRCm39) |
D306E |
possibly damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
| Gdf2 |
A |
T |
14: 33,663,411 (GRCm39) |
T102S |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,302,922 (GRCm39) |
N586S |
probably damaging |
Het |
| Gm45861 |
T |
A |
8: 27,995,043 (GRCm39) |
S472T |
unknown |
Het |
| Gm5800 |
G |
A |
14: 51,951,995 (GRCm39) |
A89V |
possibly damaging |
Het |
| Gpalpp1 |
A |
G |
14: 76,344,792 (GRCm39) |
S64P |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,400 (GRCm39) |
V63A |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 36,034,490 (GRCm39) |
V55A |
probably benign |
Het |
| Ica1 |
T |
A |
6: 8,667,362 (GRCm39) |
D268V |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,678,730 (GRCm39) |
E956G |
probably damaging |
Het |
| Itprid2 |
G |
A |
2: 79,475,180 (GRCm39) |
E380K |
probably benign |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kdr |
T |
C |
5: 76,109,428 (GRCm39) |
D983G |
probably damaging |
Het |
| Klhl23 |
C |
G |
2: 69,664,083 (GRCm39) |
I477M |
possibly damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lrrc17 |
G |
A |
5: 21,766,033 (GRCm39) |
E172K |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,606,649 (GRCm39) |
I184F |
possibly damaging |
Het |
| Med11 |
A |
G |
11: 70,342,910 (GRCm39) |
T36A |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,252,133 (GRCm39) |
D423G |
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,525,157 (GRCm39) |
D146G |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,094,536 (GRCm39) |
I926V |
probably benign |
Het |
| Paqr6 |
T |
A |
3: 88,273,328 (GRCm39) |
S107T |
probably damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,201,291 (GRCm39) |
S459N |
probably null |
Het |
| Pld5 |
T |
A |
1: 175,917,474 (GRCm39) |
H153L |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,263,244 (GRCm39) |
R788G |
possibly damaging |
Het |
| Smok2a |
A |
C |
17: 13,445,825 (GRCm39) |
R467S |
probably damaging |
Het |
| Sncaip |
A |
C |
18: 53,039,973 (GRCm39) |
K722N |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,989,214 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 75,950,994 (GRCm39) |
W382R |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,561,407 (GRCm39) |
V1324A |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,236,307 (GRCm39) |
I47F |
probably damaging |
Het |
| Tubg2 |
G |
A |
11: 101,049,957 (GRCm39) |
C201Y |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,192,677 (GRCm39) |
E268G |
probably damaging |
Het |
| Zfyve26 |
T |
G |
12: 79,318,915 (GRCm39) |
D1141A |
probably damaging |
Het |
|
| Other mutations in Kpna2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01542:Kpna2
|
APN |
11 |
106,882,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02985:Kpna2
|
APN |
11 |
106,880,163 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0016:Kpna2
|
UTSW |
11 |
106,881,912 (GRCm39) |
missense |
probably benign |
|
|
R0233:Kpna2
|
UTSW |
11 |
106,883,457 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0359:Kpna2
|
UTSW |
11 |
106,882,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1450:Kpna2
|
UTSW |
11 |
106,888,135 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1750:Kpna2
|
UTSW |
11 |
106,882,271 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4751:Kpna2
|
UTSW |
11 |
106,883,490 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4762:Kpna2
|
UTSW |
11 |
106,881,085 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4911:Kpna2
|
UTSW |
11 |
106,881,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Kpna2
|
UTSW |
11 |
106,882,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Kpna2
|
UTSW |
11 |
106,882,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5283:Kpna2
|
UTSW |
11 |
106,881,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5564:Kpna2
|
UTSW |
11 |
106,881,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Kpna2
|
UTSW |
11 |
106,883,520 (GRCm39) |
splice site |
probably null |
|
|
R7599:Kpna2
|
UTSW |
11 |
106,889,583 (GRCm39) |
missense |
probably null |
|
|
R7606:Kpna2
|
UTSW |
11 |
106,882,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7672:Kpna2
|
UTSW |
11 |
106,879,789 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9063:Kpna2
|
UTSW |
11 |
106,883,489 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9221:Kpna2
|
UTSW |
11 |
106,880,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9352:Kpna2
|
UTSW |
11 |
106,880,292 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9668:Kpna2
|
UTSW |
11 |
106,881,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCTATCAACTGAGGACGC -3'
(R):5'- CGATCTGTCTACCTTGGCAG -3'
Sequencing Primer
(F):5'- TATCAACTGAGGACGCTCCCG -3'
(R):5'- ATCTGTCTACCTTGGCAGTAAGTTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation