Incidental Mutation 'IGL02823:Prkra'
| ID |
361105 |
| 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 # |
IGL02823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
76460242-76478359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76460768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 310
(A310E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002808]
|
| AlphaFold |
Q9WTX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002808
AA Change: A310E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: A310E
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,410,074 (GRCm39) |
S194P |
probably damaging |
Het |
| Abca7 |
T |
A |
10: 79,844,656 (GRCm39) |
D1488E |
probably damaging |
Het |
| Abhd18 |
A |
G |
3: 40,887,953 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,047,644 (GRCm39) |
V56A |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,890,246 (GRCm39) |
Y631H |
probably damaging |
Het |
| C9orf72 |
A |
T |
4: 35,213,031 (GRCm39) |
C215S |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,231,164 (GRCm39) |
H3097L |
possibly damaging |
Het |
| Ear1 |
G |
T |
14: 44,056,502 (GRCm39) |
S122* |
probably null |
Het |
| Eif2a |
G |
T |
3: 58,456,092 (GRCm39) |
A364S |
probably benign |
Het |
| Eps8l2 |
A |
T |
7: 140,921,988 (GRCm39) |
D22V |
probably damaging |
Het |
| Fndc7 |
A |
G |
3: 108,776,487 (GRCm39) |
F432S |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,058,531 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,125,046 (GRCm39) |
K121E |
probably damaging |
Het |
| Gucy1a2 |
T |
C |
9: 3,894,656 (GRCm39) |
I713T |
possibly damaging |
Het |
| Hs3st1 |
A |
G |
5: 39,772,100 (GRCm39) |
L181P |
probably damaging |
Het |
| Ksr1 |
C |
A |
11: 78,912,229 (GRCm39) |
V627L |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,877,141 (GRCm39) |
N2682D |
probably damaging |
Het |
| Lratd2 |
T |
C |
15: 60,694,972 (GRCm39) |
D258G |
probably damaging |
Het |
| Map3k19 |
G |
T |
1: 127,750,001 (GRCm39) |
H1117N |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,163,815 (GRCm39) |
A1121V |
probably damaging |
Het |
| Nlrp1a |
C |
T |
11: 70,983,249 (GRCm39) |
S1239N |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,793 (GRCm39) |
M136T |
possibly damaging |
Het |
| Prl2c1 |
T |
C |
13: 28,040,416 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
T |
C |
13: 27,846,734 (GRCm39) |
Y93C |
possibly damaging |
Het |
| Prob1 |
A |
T |
18: 35,785,800 (GRCm39) |
V818E |
possibly damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,865,270 (GRCm39) |
S720G |
possibly damaging |
Het |
| Rexo4 |
T |
C |
2: 26,852,489 (GRCm39) |
T149A |
probably benign |
Het |
| Slc39a2 |
T |
A |
14: 52,132,869 (GRCm39) |
Y271N |
probably damaging |
Het |
| Sprr2d |
T |
A |
3: 92,247,734 (GRCm39) |
C58* |
probably null |
Het |
| Srebf2 |
G |
A |
15: 82,083,975 (GRCm39) |
G965D |
possibly damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,120 (GRCm39) |
E1265G |
probably benign |
Het |
| Terf2 |
T |
C |
8: 107,799,257 (GRCm39) |
N389S |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,115,888 (GRCm39) |
S410P |
probably damaging |
Het |
| Vwa3b |
A |
T |
1: 37,225,985 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation