Incidental Mutation 'IGL02962:Prkra'
| ID |
365398 |
| 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: 0.548)
|
| Stock # |
IGL02962
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
76460242-76478359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76463891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 257
(T257M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002808]
|
| AlphaFold |
Q9WTX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002808
AA Change: T257M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002808
Gene: ENSMUSG00000002731
AA Change: T257M
| 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
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,446,455 (GRCm39) |
|
probably null |
Het |
| 9530068E07Rik |
T |
C |
11: 52,294,362 (GRCm39) |
V209A |
possibly damaging |
Het |
| Abca3 |
T |
A |
17: 24,619,383 (GRCm39) |
V907E |
probably damaging |
Het |
| Acvrl1 |
T |
C |
15: 101,033,382 (GRCm39) |
Y90H |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,574,737 (GRCm39) |
D81G |
probably damaging |
Het |
| Amn |
G |
T |
12: 111,240,951 (GRCm39) |
V152L |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,957,987 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
A |
11: 79,999,405 (GRCm39) |
V895D |
possibly damaging |
Het |
| Card9 |
T |
G |
2: 26,248,029 (GRCm39) |
|
probably null |
Het |
| Ccer1 |
T |
C |
10: 97,529,702 (GRCm39) |
S122P |
unknown |
Het |
| Ccr2 |
A |
G |
9: 123,905,712 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,473,381 (GRCm39) |
I818N |
possibly damaging |
Het |
| Ear10 |
G |
T |
14: 44,160,774 (GRCm39) |
L18I |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,619,374 (GRCm39) |
Y544C |
probably damaging |
Het |
| Miga1 |
A |
T |
3: 151,990,978 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,669,061 (GRCm39) |
V307A |
probably damaging |
Het |
| Or5p64 |
A |
T |
7: 107,854,910 (GRCm39) |
I145N |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,773 (GRCm39) |
L33H |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,036,384 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,910 (GRCm39) |
E293V |
probably benign |
Het |
| Prickle2 |
A |
C |
6: 92,353,403 (GRCm39) |
S744A |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,024,270 (GRCm39) |
|
probably null |
Het |
| Prkd2 |
A |
G |
7: 16,603,757 (GRCm39) |
T813A |
probably benign |
Het |
| Rbm18 |
C |
T |
2: 36,012,886 (GRCm39) |
R102Q |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,167,307 (GRCm39) |
S446P |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,996,990 (GRCm39) |
V28D |
possibly damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,775,928 (GRCm39) |
K613I |
probably damaging |
Het |
| Serbp1 |
G |
A |
6: 67,244,103 (GRCm39) |
G8D |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,699,390 (GRCm39) |
Y139* |
probably null |
Het |
| Slc7a2 |
T |
A |
8: 41,358,621 (GRCm39) |
F321L |
probably damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,594,279 (GRCm39) |
S48N |
probably damaging |
Het |
| Ssbp2 |
G |
T |
13: 91,790,490 (GRCm39) |
V118L |
possibly damaging |
Het |
| Sugp1 |
T |
A |
8: 70,512,512 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
C |
A |
10: 23,846,883 (GRCm39) |
R94S |
possibly damaging |
Het |
| Tgs1 |
G |
T |
4: 3,586,181 (GRCm39) |
A353S |
probably benign |
Het |
| Trav1 |
A |
G |
14: 52,666,099 (GRCm39) |
E32G |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,259,160 (GRCm39) |
V71A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,784,252 (GRCm39) |
Y74C |
probably damaging |
Het |
| Wars1 |
A |
T |
12: 108,841,706 (GRCm39) |
M147K |
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 |
|
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