Incidental Mutation 'IGL01459:Prkra'
| ID |
87949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prkra
|
| Ensembl Gene |
ENSMUSG00000002731 |
| Gene Name |
protein kinase, interferon inducible double stranded RNA dependent activator |
| Synonyms |
Pact, RAX, PRK, lear |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.518)
|
| Stock # |
IGL01459
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
76460242-76478359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76460780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 306
(L306S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002808]
|
| AlphaFold |
Q9WTX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002808
AA Change: L306S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: L306S
| Domain | Start | End | E-Value | Type |
|---|
|
DSRM
|
35 |
100 |
4.63e-24 |
SMART |
|
DSRM
|
127 |
193 |
2.23e-17 |
SMART |
|
DSRM
|
241 |
307 |
1.16e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a deletion of the entire gene show embryonic lethality prior to implantation. Mice homozygous for a deletion in the last exon are viable but exhibit small size, turbinate hypoplasia, short snout, severe microtia, outer and middle ear defects, and impaired hearing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a2 |
A |
G |
5: 122,607,715 (GRCm39) |
S265P |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,848,620 (GRCm39) |
F520L |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,864,449 (GRCm39) |
D470V |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,378 (GRCm39) |
R41G |
probably damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,024 (GRCm39) |
C345Y |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,653,981 (GRCm39) |
Y1419* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,391,007 (GRCm39) |
S420P |
probably damaging |
Het |
| Epb41 |
A |
G |
4: 131,691,439 (GRCm39) |
|
probably benign |
Het |
| Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
| Fndc3b |
T |
A |
3: 27,515,889 (GRCm39) |
H639L |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
| Kbtbd8 |
A |
G |
6: 95,099,789 (GRCm39) |
N356D |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,804,820 (GRCm39) |
E189G |
probably damaging |
Het |
| Kif2b |
T |
C |
11: 91,467,849 (GRCm39) |
K145E |
possibly damaging |
Het |
| Kif5c |
A |
G |
2: 49,625,569 (GRCm39) |
D613G |
probably benign |
Het |
| Lipe |
T |
G |
7: 25,082,967 (GRCm39) |
Q457P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,750,726 (GRCm39) |
I2946N |
probably damaging |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,066,804 (GRCm39) |
S5886P |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,506,196 (GRCm39) |
|
probably null |
Het |
| Nup153 |
T |
C |
13: 46,866,402 (GRCm39) |
E214G |
possibly damaging |
Het |
| Or14c44 |
A |
C |
7: 86,061,759 (GRCm39) |
N104T |
probably damaging |
Het |
| Or6c66b |
G |
A |
10: 129,376,410 (GRCm39) |
M1I |
probably null |
Het |
| Paqr3 |
T |
C |
5: 97,243,796 (GRCm39) |
D306G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,446,878 (GRCm39) |
D796G |
probably benign |
Het |
| Psg20 |
T |
A |
7: 18,416,638 (GRCm39) |
E159D |
probably damaging |
Het |
| Ptchd3 |
G |
T |
11: 121,721,246 (GRCm39) |
V40L |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,086 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,865,275 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
C |
A |
11: 53,877,303 (GRCm39) |
|
probably null |
Het |
| Tars1 |
A |
G |
15: 11,391,940 (GRCm39) |
V265A |
possibly damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,686,992 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,378,592 (GRCm39) |
P399L |
probably damaging |
Het |
| Tmem135 |
A |
T |
7: 88,800,646 (GRCm39) |
D325E |
probably damaging |
Het |
| Tmprss7 |
A |
T |
16: 45,483,706 (GRCm39) |
I556N |
probably benign |
Het |
| Tom1l2 |
C |
T |
11: 60,171,095 (GRCm39) |
G23S |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,241,435 (GRCm39) |
|
probably benign |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,241 (GRCm39) |
I54T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,603,903 (GRCm39) |
C43R |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,673,371 (GRCm39) |
L405P |
probably benign |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
| Other mutations in Prkra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02016:Prkra
|
APN |
2 |
76,473,653 (GRCm39) |
splice site |
probably null |
|
|
IGL02823:Prkra
|
APN |
2 |
76,460,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02962:Prkra
|
APN |
2 |
76,463,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Prkra
|
APN |
2 |
76,470,614 (GRCm39) |
missense |
probably benign |
0.06 |
|
smallear
|
UTSW |
2 |
76,460,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Prkra
|
UTSW |
2 |
76,469,622 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1609:Prkra
|
UTSW |
2 |
76,463,936 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1751:Prkra
|
UTSW |
2 |
76,477,584 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1767:Prkra
|
UTSW |
2 |
76,477,584 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2131:Prkra
|
UTSW |
2 |
76,477,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Prkra
|
UTSW |
2 |
76,469,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5385:Prkra
|
UTSW |
2 |
76,469,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5386:Prkra
|
UTSW |
2 |
76,469,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6802:Prkra
|
UTSW |
2 |
76,463,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Prkra
|
UTSW |
2 |
76,460,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7445:Prkra
|
UTSW |
2 |
76,463,942 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7471:Prkra
|
UTSW |
2 |
76,477,545 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8181:Prkra
|
UTSW |
2 |
76,469,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Prkra
|
UTSW |
2 |
76,463,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8749:Prkra
|
UTSW |
2 |
76,460,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Prkra
|
UTSW |
2 |
76,460,856 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9101:Prkra
|
UTSW |
2 |
76,478,184 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9115:Prkra
|
UTSW |
2 |
76,478,193 (GRCm39) |
missense |
probably benign |
|
|
R9290:Prkra
|
UTSW |
2 |
76,478,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation