Incidental Mutation 'IGL03366:Pick1'
| ID |
420112 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pick1
|
| Ensembl Gene |
ENSMUSG00000116121 |
| Gene Name |
protein interacting with C kinase 1 |
| Synonyms |
Prkcabp |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.602)
|
| Stock # |
IGL03366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
79113373-79133666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79125481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 113
(S113P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018295]
[ENSMUST00000053926]
[ENSMUST00000163571]
[ENSMUST00000166155]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018295
AA Change: S113P
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018295
Gene: ENSMUSG00000068206
AA Change: S113P
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
31 |
105 |
2.12e-13 |
SMART |
|
Arfaptin
|
117 |
352 |
1.69e-122 |
SMART |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053926
AA Change: S113P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121
AA Change: S113P
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
31 |
105 |
2.12e-13 |
SMART |
|
Arfaptin
|
117 |
363 |
1.18e-103 |
SMART |
|
GLECT
|
393 |
530 |
7.99e-3 |
SMART |
|
Gal-bind_lectin
|
399 |
530 |
4.49e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113954
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163571
AA Change: S113P
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128126
Gene: ENSMUSG00000068206
AA Change: S113P
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
31 |
105 |
2.12e-13 |
SMART |
|
Arfaptin
|
117 |
352 |
1.69e-122 |
SMART |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165609
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166155
AA Change: S113P
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129468
Gene: ENSMUSG00000068206
AA Change: S113P
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
31 |
105 |
2.12e-13 |
SMART |
|
Arfaptin
|
117 |
352 |
1.69e-122 |
SMART |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172162
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show impaired synaptic plasticity and lack of long-term depression; males are infertile due to reduced sperm count and impaired sperm motility, and display small testes and seminiferous tubules, malformed acrosomes, globozoospermia, and male germ cell apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
T |
A |
7: 141,209,186 (GRCm39) |
S793T |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,727,153 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
C |
A |
11: 94,347,977 (GRCm39) |
D704Y |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,829 (GRCm39) |
S299P |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,244,060 (GRCm39) |
I371T |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,882,632 (GRCm39) |
F384I |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,187,301 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
G |
T |
13: 14,552,382 (GRCm39) |
D72E |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,064,924 (GRCm39) |
W3046R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 110,993,995 (GRCm39) |
N10Y |
unknown |
Het |
| Ighv8-8 |
T |
A |
12: 115,257,760 (GRCm39) |
T94S |
probably benign |
Het |
| Igkv4-58 |
A |
G |
6: 69,477,538 (GRCm39) |
S20P |
probably damaging |
Het |
| Il4i1 |
T |
C |
7: 44,486,919 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,918,099 (GRCm39) |
S403T |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,612,446 (GRCm39) |
L616P |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,325,491 (GRCm39) |
L440P |
possibly damaging |
Het |
| Lpin1 |
A |
G |
12: 16,594,678 (GRCm39) |
L755P |
probably damaging |
Het |
| Magee2 |
C |
A |
X: 103,899,134 (GRCm39) |
E506* |
probably null |
Het |
| Mast3 |
G |
A |
8: 71,234,207 (GRCm39) |
R143* |
probably null |
Het |
| Med12 |
T |
A |
X: 100,321,695 (GRCm39) |
H459Q |
probably benign |
Het |
| Mmp3 |
T |
C |
9: 7,450,149 (GRCm39) |
S294P |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,349 (GRCm39) |
Y714C |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,074,349 (GRCm39) |
L662S |
probably damaging |
Het |
| Notch4 |
G |
T |
17: 34,791,542 (GRCm39) |
C567F |
probably damaging |
Het |
| Nprl3 |
A |
G |
11: 32,200,256 (GRCm39) |
I20T |
probably damaging |
Het |
| Or10ag2 |
A |
T |
2: 87,248,587 (GRCm39) |
D65V |
possibly damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,665 (GRCm39) |
T487A |
possibly damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,667,467 (GRCm39) |
E1332G |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,507,178 (GRCm39) |
E1023G |
probably damaging |
Het |
| Rspry1 |
A |
C |
8: 95,376,962 (GRCm39) |
I382L |
probably benign |
Het |
| Sf3b3 |
A |
C |
8: 111,566,586 (GRCm39) |
V248G |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,253,759 (GRCm39) |
Y126* |
probably null |
Het |
| Spin1 |
T |
C |
13: 51,281,973 (GRCm39) |
V22A |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,872,220 (GRCm39) |
R1189Q |
possibly damaging |
Het |
| Sytl5 |
A |
G |
X: 9,829,939 (GRCm39) |
D538G |
probably damaging |
Het |
| Taar7e |
T |
A |
10: 23,913,813 (GRCm39) |
M101K |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,576,847 (GRCm39) |
V578A |
probably damaging |
Het |
| Tmem266 |
G |
T |
9: 55,344,517 (GRCm39) |
C383F |
probably benign |
Het |
| Trim34a |
T |
C |
7: 103,910,140 (GRCm39) |
|
probably null |
Het |
| Vmn2r104 |
T |
C |
17: 20,249,866 (GRCm39) |
T802A |
probably damaging |
Het |
| Vmn2r32 |
A |
C |
7: 7,467,029 (GRCm39) |
I833S |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,262,328 (GRCm39) |
D137G |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,853,308 (GRCm39) |
S2467L |
probably benign |
Het |
|
| Other mutations in Pick1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Pick1
|
APN |
15 |
79,131,457 (GRCm39) |
splice site |
probably benign |
|
|
IGL03137:Pick1
|
APN |
15 |
79,129,501 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
FR4976:Pick1
|
UTSW |
15 |
79,140,146 (GRCm39) |
frame shift |
probably null |
|
|
R1590:Pick1
|
UTSW |
15 |
79,129,501 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2114:Pick1
|
UTSW |
15 |
79,139,781 (GRCm39) |
unclassified |
probably benign |
|
|
R2115:Pick1
|
UTSW |
15 |
79,139,781 (GRCm39) |
unclassified |
probably benign |
|
|
R2219:Pick1
|
UTSW |
15 |
79,123,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Pick1
|
UTSW |
15 |
79,130,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Pick1
|
UTSW |
15 |
79,133,137 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4796:Pick1
|
UTSW |
15 |
79,139,810 (GRCm39) |
unclassified |
probably benign |
|
|
R5420:Pick1
|
UTSW |
15 |
79,133,040 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5869:Pick1
|
UTSW |
15 |
79,133,095 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6047:Pick1
|
UTSW |
15 |
79,139,895 (GRCm39) |
unclassified |
probably benign |
|
|
R6128:Pick1
|
UTSW |
15 |
79,123,896 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6291:Pick1
|
UTSW |
15 |
79,135,928 (GRCm39) |
splice site |
probably null |
|
|
R7042:Pick1
|
UTSW |
15 |
79,132,965 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7564:Pick1
|
UTSW |
15 |
79,139,781 (GRCm39) |
missense |
unknown |
|
|
R8211:Pick1
|
UTSW |
15 |
79,132,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8870:Pick1
|
UTSW |
15 |
79,140,107 (GRCm39) |
missense |
unknown |
|
|
R9354:Pick1
|
UTSW |
15 |
79,123,848 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation