Incidental Mutation 'IGL02712:Pnkd'
| ID |
304618 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pnkd
|
| Ensembl Gene |
ENSMUSG00000026179 |
| Gene Name |
paroxysmal nonkinesiogenic dyskinesia |
| Synonyms |
2210013N15Rik, 2810403H05Rik, Brp17 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL02712
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74324089-74392853 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74389027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 233
(S233T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027370]
[ENSMUST00000087225]
[ENSMUST00000087226]
|
| AlphaFold |
Q69ZP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027370
AA Change: S258T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
AA Change: S258T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Lactamase_B
|
4 |
79 |
1e-24 |
BLAST |
|
Lactamase_B
|
129 |
291 |
1.05e-31 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087225
AA Change: S233T
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000084477
Gene: ENSMUSG00000026179
AA Change: S233T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
6 |
28 |
N/A |
INTRINSIC |
|
transmembrane domain
|
49 |
68 |
N/A |
INTRINSIC |
|
Lactamase_B
|
104 |
266 |
1.05e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087226
AA Change: S297T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
AA Change: S297T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
Pfam:DUF4748
|
71 |
121 |
2.9e-23 |
PFAM |
|
Lactamase_B
|
168 |
330 |
1.05e-31 |
SMART |
|
Pfam:HAGH_C
|
331 |
421 |
6.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138620
|
| 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 is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) and lower DOPAC/dopamine ratios after injection of caffeine or ethanol. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angel1 |
A |
G |
12: 86,769,613 (GRCm39) |
|
probably benign |
Het |
| Arhgef33 |
T |
A |
17: 80,667,802 (GRCm39) |
V289D |
probably damaging |
Het |
| Cabp5 |
A |
G |
7: 13,137,271 (GRCm39) |
M93V |
probably damaging |
Het |
| Ces1a |
A |
C |
8: 93,762,668 (GRCm39) |
V201G |
probably damaging |
Het |
| Cisd1 |
A |
G |
10: 71,172,181 (GRCm39) |
F34L |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,688,426 (GRCm39) |
L316P |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,448,386 (GRCm39) |
I213V |
probably benign |
Het |
| Ddx59 |
A |
T |
1: 136,367,519 (GRCm39) |
N542I |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,703,581 (GRCm39) |
T233A |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,860,302 (GRCm39) |
T49A |
possibly damaging |
Het |
| Fmnl2 |
C |
A |
2: 52,926,510 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,194,225 (GRCm39) |
K610N |
probably damaging |
Het |
| Hipk4 |
T |
C |
7: 27,228,060 (GRCm39) |
Y269H |
probably damaging |
Het |
| Ifi209 |
T |
C |
1: 173,470,267 (GRCm39) |
V285A |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Map3k13 |
T |
G |
16: 21,724,005 (GRCm39) |
V329G |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,134,683 (GRCm39) |
W29R |
possibly damaging |
Het |
| Nherf1 |
T |
C |
11: 115,068,060 (GRCm39) |
V200A |
possibly damaging |
Het |
| Nos1ap |
T |
C |
1: 170,156,820 (GRCm39) |
I213V |
possibly damaging |
Het |
| Nphp4 |
C |
T |
4: 152,640,732 (GRCm39) |
T1033M |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,868,266 (GRCm39) |
|
probably null |
Het |
| Nrcam |
A |
G |
12: 44,620,610 (GRCm39) |
Y885C |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,262,107 (GRCm39) |
|
probably null |
Het |
| Or1e17 |
T |
C |
11: 73,831,756 (GRCm39) |
V228A |
probably benign |
Het |
| Or8b57 |
T |
C |
9: 40,004,082 (GRCm39) |
H60R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,893,829 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,376,113 (GRCm39) |
S1341G |
probably benign |
Het |
| Pld2 |
T |
G |
11: 70,447,905 (GRCm39) |
L856R |
probably benign |
Het |
| Plod1 |
A |
G |
4: 148,003,344 (GRCm39) |
F494L |
possibly damaging |
Het |
| Rnf144b |
T |
C |
13: 47,393,255 (GRCm39) |
I198T |
probably damaging |
Het |
| Rsc1a1 |
G |
T |
4: 141,412,376 (GRCm39) |
Q179K |
probably benign |
Het |
| Slc5a10 |
C |
T |
11: 61,598,632 (GRCm39) |
W249* |
probably null |
Het |
| Spata32 |
T |
G |
11: 103,098,973 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,938,817 (GRCm39) |
H228Q |
probably damaging |
Het |
| Szt2 |
T |
A |
4: 118,242,030 (GRCm39) |
Q1592L |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,893,493 (GRCm39) |
I1598F |
probably damaging |
Het |
| Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
| Ttll6 |
T |
G |
11: 96,030,601 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
A |
G |
17: 55,899,655 (GRCm39) |
S750P |
probably benign |
Het |
| Zswim5 |
C |
T |
4: 116,842,892 (GRCm39) |
T879I |
probably damaging |
Het |
|
| Other mutations in Pnkd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00472:Pnkd
|
APN |
1 |
74,325,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01322:Pnkd
|
APN |
1 |
74,390,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02536:Pnkd
|
APN |
1 |
74,391,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Pnkd
|
UTSW |
1 |
74,390,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0741:Pnkd
|
UTSW |
1 |
74,391,018 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1483:Pnkd
|
UTSW |
1 |
74,388,550 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1497:Pnkd
|
UTSW |
1 |
74,390,681 (GRCm39) |
splice site |
probably null |
|
|
R1515:Pnkd
|
UTSW |
1 |
74,388,968 (GRCm39) |
missense |
probably null |
1.00 |
|
R1759:Pnkd
|
UTSW |
1 |
74,387,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1969:Pnkd
|
UTSW |
1 |
74,391,008 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1970:Pnkd
|
UTSW |
1 |
74,325,069 (GRCm39) |
splice site |
probably null |
|
|
R3508:Pnkd
|
UTSW |
1 |
74,389,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4714:Pnkd
|
UTSW |
1 |
74,390,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Pnkd
|
UTSW |
1 |
74,388,564 (GRCm39) |
splice site |
probably null |
|
|
R5437:Pnkd
|
UTSW |
1 |
74,388,896 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5931:Pnkd
|
UTSW |
1 |
74,389,833 (GRCm39) |
missense |
probably benign |
|
|
R6698:Pnkd
|
UTSW |
1 |
74,389,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Pnkd
|
UTSW |
1 |
74,332,335 (GRCm39) |
splice site |
probably null |
|
|
R9124:Pnkd
|
UTSW |
1 |
74,386,602 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation