Incidental Mutation 'R1609:Prkra'
ID |
176659 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkra
|
Ensembl Gene |
ENSMUSG00000002731 |
Gene Name |
protein kinase, interferon inducible double stranded RNA dependent activator |
Synonyms |
Pact, RAX, PRK, lear |
MMRRC Submission |
039646-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.548)
|
Stock # |
R1609 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
76460242-76478359 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76463936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 242
(I242N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002808]
|
AlphaFold |
Q9WTX2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002808
AA Change: I242N
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000002808 Gene: ENSMUSG00000002731 AA Change: I242N
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140493
|
Meta Mutation Damage Score |
0.0799 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.1%
|
Validation Efficiency |
96% (49/51) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot2 |
C |
T |
12: 84,039,630 (GRCm39) |
R380C |
possibly damaging |
Het |
Allc |
A |
T |
12: 28,603,993 (GRCm39) |
D363E |
probably damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
App |
C |
A |
16: 84,876,837 (GRCm39) |
V185L |
probably damaging |
Het |
Atp5if1 |
T |
C |
4: 132,258,078 (GRCm39) |
D47G |
probably benign |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Cbr4 |
T |
A |
8: 61,956,192 (GRCm39) |
Y220N |
probably damaging |
Het |
Ccdc6 |
C |
A |
10: 70,002,877 (GRCm39) |
Q203K |
probably damaging |
Het |
Cntnap2 |
T |
C |
6: 45,992,264 (GRCm39) |
V397A |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,316,547 (GRCm39) |
I1613T |
possibly damaging |
Het |
Dnah14 |
T |
C |
1: 181,577,742 (GRCm39) |
S3020P |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,392,126 (GRCm39) |
L3829P |
probably damaging |
Het |
Fbxw25 |
C |
T |
9: 109,492,578 (GRCm39) |
C53Y |
probably benign |
Het |
Fndc1 |
G |
T |
17: 7,991,598 (GRCm39) |
H699Q |
unknown |
Het |
Gnaq |
G |
A |
19: 16,360,618 (GRCm39) |
V314M |
possibly damaging |
Het |
Gpr158 |
A |
G |
2: 21,788,104 (GRCm39) |
T582A |
possibly damaging |
Het |
Mapk1 |
T |
C |
16: 16,856,170 (GRCm39) |
|
probably benign |
Het |
Med1 |
T |
A |
11: 98,051,996 (GRCm39) |
H456L |
possibly damaging |
Het |
Myo6 |
G |
A |
9: 80,195,499 (GRCm39) |
|
probably null |
Het |
Nipbl |
A |
G |
15: 8,396,148 (GRCm39) |
Y142H |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,688 (GRCm39) |
F27L |
probably benign |
Het |
Or8k24 |
A |
G |
2: 86,215,838 (GRCm39) |
I308T |
probably benign |
Het |
Or8k33 |
A |
C |
2: 86,383,949 (GRCm39) |
V173G |
probably damaging |
Het |
Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
Pnisr |
G |
T |
4: 21,871,440 (GRCm39) |
G387* |
probably null |
Het |
Pnpla6 |
T |
C |
8: 3,567,135 (GRCm39) |
L61P |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,419,424 (GRCm39) |
S563P |
probably damaging |
Het |
Rtp3 |
A |
G |
9: 110,815,085 (GRCm39) |
|
probably benign |
Het |
Sema3d |
A |
G |
5: 12,591,023 (GRCm39) |
T301A |
probably damaging |
Het |
Setmar |
A |
G |
6: 108,053,076 (GRCm39) |
D190G |
probably benign |
Het |
Sf3b2 |
A |
G |
19: 5,345,061 (GRCm39) |
|
probably benign |
Het |
Taf4b |
A |
G |
18: 14,968,938 (GRCm39) |
K692E |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,504 (GRCm39) |
E354G |
probably benign |
Het |
Tspan4 |
A |
G |
7: 141,071,557 (GRCm39) |
T135A |
probably damaging |
Het |
Vmn1r22 |
G |
T |
6: 57,877,733 (GRCm39) |
Y81* |
probably null |
Het |
Vmn2r31 |
T |
C |
7: 7,387,888 (GRCm39) |
E561G |
probably damaging |
Het |
Xrn1 |
A |
T |
9: 95,856,946 (GRCm39) |
K389N |
probably benign |
Het |
Zfp277 |
A |
T |
12: 40,378,719 (GRCm39) |
N379K |
probably damaging |
Het |
|
Other mutations in Prkra |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01459:Prkra
|
APN |
2 |
76,460,780 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTGGTGTTTTGCTCCCATAATCCC -3'
(R):5'- GCAAGCATTTGCTGCACTGAGG -3'
Sequencing Primer
(F):5'- TAATCCCACCCAGCCCTTG -3'
(R):5'- acccatctctccatcccc -3'
|
Posted On |
2014-04-24 |