Incidental Mutation 'R8211:Pick1'
| ID |
636186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pick1
|
| Ensembl Gene |
ENSMUSG00000116121 |
| Gene Name |
protein interacting with C kinase 1 |
| Synonyms |
Prkcabp |
| MMRRC Submission |
067634-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.602)
|
| Stock # |
R8211 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
79113373-79133666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79132930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 330
(I330N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018295
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018295]
[ENSMUST00000039752]
[ENSMUST00000053926]
[ENSMUST00000163571]
[ENSMUST00000166155]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018295
AA Change: I330N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000018295
Gene: ENSMUSG00000068206
AA Change: I330N
| 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 benign
Transcript: ENSMUST00000039752
|
| SMART Domains |
Protein: ENSMUSP00000040522
Gene: ENSMUSG00000032988
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
20 |
349 |
1.3e-28 |
PFAM |
|
transmembrane domain
|
353 |
372 |
N/A |
INTRINSIC |
|
transmembrane domain
|
387 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053926
|
| SMART Domains |
Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121
| 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 |
probably damaging
Transcript: ENSMUST00000163571
AA Change: I330N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128126
Gene: ENSMUSG00000068206
AA Change: I330N
| 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: ENSMUST00000166155
AA Change: I330N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129468
Gene: ENSMUSG00000068206
AA Change: I330N
| 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 |
|
| Meta Mutation Damage Score |
0.9161 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
A |
G |
17: 47,201,309 (GRCm39) |
|
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,172,371 (GRCm39) |
S445P |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,649,345 (GRCm39) |
I304T |
possibly damaging |
Het |
| Alk |
G |
A |
17: 72,176,702 (GRCm39) |
A1534V |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,703,228 (GRCm39) |
P287L |
unknown |
Het |
| Appl1 |
T |
C |
14: 26,667,555 (GRCm39) |
I367V |
probably benign |
Het |
| Arpin |
T |
A |
7: 79,584,992 (GRCm39) |
M1L |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| B430203G13Rik |
A |
T |
12: 17,974,540 (GRCm39) |
H82L |
noncoding transcript |
Het |
| Bcl11a |
T |
A |
11: 24,028,394 (GRCm39) |
S2T |
probably damaging |
Het |
| Cfap299 |
A |
G |
5: 98,477,294 (GRCm39) |
I28V |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,213,220 (GRCm39) |
M1605L |
unknown |
Het |
| Chga |
C |
A |
12: 102,527,678 (GRCm39) |
Q111K |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,782,707 (GRCm39) |
E24G |
unknown |
Het |
| Dst |
T |
C |
1: 34,251,532 (GRCm39) |
L2195P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,392,402 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,203,035 (GRCm39) |
L13P |
possibly damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,151 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,199,515 (GRCm39) |
I326T |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,226,110 (GRCm39) |
D195N |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,042,024 (GRCm39) |
C37S |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,006,408 (GRCm39) |
L1239P |
probably damaging |
Het |
| Mrps5 |
T |
A |
2: 127,445,644 (GRCm39) |
H390Q |
probably benign |
Het |
| Nphp3 |
T |
A |
9: 103,909,096 (GRCm39) |
C769S |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 59,006,620 (GRCm39) |
S1181P |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pabpc6 |
G |
T |
17: 9,888,386 (GRCm39) |
A55E |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,912 (GRCm39) |
E327V |
possibly damaging |
Het |
| Pds5b |
A |
G |
5: 150,652,407 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pi4ka |
A |
C |
16: 17,100,769 (GRCm39) |
I1807S |
|
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rubcn |
A |
C |
16: 32,656,913 (GRCm39) |
C502W |
possibly damaging |
Het |
| Slc26a10 |
G |
A |
10: 127,009,834 (GRCm39) |
R571C |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,259,434 (GRCm39) |
N587Y |
probably damaging |
Het |
| Slfn2 |
T |
G |
11: 82,960,585 (GRCm39) |
V188G |
possibly damaging |
Het |
| Smok2b |
T |
C |
17: 13,454,680 (GRCm39) |
V280A |
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,348,761 (GRCm39) |
E798G |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,469,543 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
T |
C |
5: 87,390,235 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn1r160 |
T |
C |
7: 22,570,751 (GRCm39) |
F35L |
possibly damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,286 (GRCm39) |
Y235* |
probably null |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,843 (GRCm39) |
I659V |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,326,762 (GRCm39) |
D349G |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
Het |
| Zfp938 |
T |
C |
10: 82,062,419 (GRCm39) |
N67S |
possibly damaging |
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 |
|
IGL03366:Pick1
|
APN |
15 |
79,125,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
R8870:Pick1
|
UTSW |
15 |
79,140,107 (GRCm39) |
missense |
unknown |
|
|
R9354:Pick1
|
UTSW |
15 |
79,123,848 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAGAGTTTGGAGGACTTAAGTGGC -3'
(R):5'- CTTGGACACTTCCCTAGCTG -3'
Sequencing Primer
(F):5'- TTTGGAGGACTTAAGTGGCCAAGTAG -3'
(R):5'- ACTTCCCTAGCTGCCCCATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation