Incidental Mutation 'R5699:Pacsin3'
| ID |
446548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pacsin3
|
| Ensembl Gene |
ENSMUSG00000027257 |
| Gene Name |
protein kinase C and casein kinase substrate in neurons 3 |
| Synonyms |
6330413E15Rik, 4921507A02Rik |
| MMRRC Submission |
043327-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5699 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91086299-91095024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91093126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 206
(Y206F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028691]
[ENSMUST00000028694]
[ENSMUST00000059566]
[ENSMUST00000080008]
[ENSMUST00000111349]
[ENSMUST00000168916]
[ENSMUST00000134699]
[ENSMUST00000154959]
[ENSMUST00000156919]
[ENSMUST00000144394]
[ENSMUST00000131711]
[ENSMUST00000138470]
|
| AlphaFold |
Q99JB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028691
|
| SMART Domains |
Protein: ENSMUSP00000028691
Gene: ENSMUSG00000027255
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
125 |
1.46e-44 |
SMART |
|
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
|
coiled coil region
|
254 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
Blast:ArfGap
|
370 |
434 |
6e-32 |
BLAST |
|
low complexity region
|
468 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028694
AA Change: Y206F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257
AA Change: Y206F
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
|
SH3
|
366 |
423 |
1.03e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059566
AA Change: Y206F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257
AA Change: Y206F
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
|
SH3
|
366 |
423 |
1.03e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080008
|
| SMART Domains |
Protein: ENSMUSP00000078920
Gene: ENSMUSG00000027255
| Domain | Start | End | E-Value | Type |
|---|
|
ArfGap
|
11 |
125 |
1.46e-44 |
SMART |
|
low complexity region
|
213 |
232 |
N/A |
INTRINSIC |
|
coiled coil region
|
240 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
333 |
376 |
9.77e-5 |
PROSPERO |
|
low complexity region
|
454 |
462 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111349
AA Change: Y206F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257
AA Change: Y206F
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
|
SH3
|
366 |
423 |
1.03e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124658
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126754
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168916
AA Change: Y206F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257
AA Change: Y206F
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
|
SH3
|
366 |
423 |
1.03e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141313
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134699
|
| SMART Domains |
Protein: ENSMUSP00000115046
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154959
|
| SMART Domains |
Protein: ENSMUSP00000122769
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
14 |
64 |
2.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156919
|
| SMART Domains |
Protein: ENSMUSP00000122779
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144394
|
| SMART Domains |
Protein: ENSMUSP00000121297
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
95 |
4.88e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131711
|
| SMART Domains |
Protein: ENSMUSP00000117214
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128684
|
| SMART Domains |
Protein: ENSMUSP00000118915
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SYV|H
|
2 |
61 |
3e-37 |
PDB |
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
SCOP:d1k4us_
|
86 |
112 |
6e-7 |
SMART |
|
PDB:2X3X|E
|
88 |
112 |
7e-7 |
PDB |
|
Blast:SH3
|
91 |
112 |
1e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138470
|
| SMART Domains |
Protein: ENSMUSP00000117230
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
A |
G |
9: 8,225,320 (GRCm39) |
|
noncoding transcript |
Het |
| 4930486L24Rik |
A |
G |
13: 61,001,410 (GRCm39) |
F106L |
possibly damaging |
Het |
| Adam11 |
A |
T |
11: 102,664,466 (GRCm39) |
M385L |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,788,007 (GRCm39) |
P925S |
probably benign |
Het |
| Adh7 |
G |
A |
3: 137,932,087 (GRCm39) |
A234T |
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,849,703 (GRCm39) |
E475G |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,385 (GRCm39) |
V254A |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,715,749 (GRCm39) |
Y89C |
probably damaging |
Het |
| Cd38 |
A |
G |
5: 44,057,728 (GRCm39) |
K100R |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,361,175 (GRCm39) |
I721T |
probably damaging |
Het |
| Cdh2 |
G |
A |
18: 16,779,579 (GRCm39) |
Q161* |
probably null |
Het |
| Clk1 |
T |
C |
1: 58,459,354 (GRCm39) |
K135R |
probably damaging |
Het |
| Col5a1 |
G |
A |
2: 27,887,611 (GRCm39) |
G961R |
unknown |
Het |
| Cpt1b |
T |
A |
15: 89,308,476 (GRCm39) |
I151F |
probably benign |
Het |
| Cyp51 |
A |
G |
5: 4,151,213 (GRCm39) |
F139L |
probably damaging |
Het |
| Disp1 |
TTGA |
T |
1: 182,870,119 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 31,029,298 (GRCm39) |
I4089T |
probably benign |
Het |
| Dnali1 |
C |
T |
4: 124,952,843 (GRCm39) |
V227M |
possibly damaging |
Het |
| Eml4 |
T |
G |
17: 83,717,514 (GRCm39) |
S29A |
probably benign |
Het |
| Eps8l3 |
C |
A |
3: 107,786,895 (GRCm39) |
P24T |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,478,446 (GRCm39) |
|
probably null |
Het |
| Firrm |
A |
T |
1: 163,785,120 (GRCm39) |
V753D |
probably benign |
Het |
| Grid2 |
G |
A |
6: 63,885,975 (GRCm39) |
A124T |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,204,204 (GRCm39) |
|
probably null |
Het |
| Kyat1 |
G |
A |
2: 30,076,662 (GRCm39) |
A284V |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmbrd2 |
G |
T |
15: 9,175,269 (GRCm39) |
L393F |
probably benign |
Het |
| Lrrc26 |
T |
A |
2: 25,180,536 (GRCm39) |
L179Q |
probably damaging |
Het |
| Mlx |
A |
G |
11: 100,979,520 (GRCm39) |
D113G |
possibly damaging |
Het |
| Myod1 |
A |
G |
7: 46,026,407 (GRCm39) |
K104R |
probably damaging |
Het |
| Nwd1 |
G |
A |
8: 73,429,602 (GRCm39) |
|
probably null |
Het |
| Or56b2j |
T |
G |
7: 104,353,200 (GRCm39) |
V142G |
probably damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,336 (GRCm39) |
M1V |
probably null |
Het |
| Or6c3 |
A |
C |
10: 129,308,746 (GRCm39) |
N62H |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,864,970 (GRCm39) |
V255E |
probably damaging |
Het |
| Pdp1 |
T |
C |
4: 11,960,907 (GRCm39) |
D468G |
possibly damaging |
Het |
| Pgr |
C |
T |
9: 8,900,600 (GRCm39) |
|
probably benign |
Het |
| Prrt2 |
T |
A |
7: 126,617,899 (GRCm39) |
Y345F |
probably benign |
Het |
| Rbbp8nl |
T |
C |
2: 179,920,461 (GRCm39) |
T515A |
probably damaging |
Het |
| Rc3h1 |
G |
T |
1: 160,757,823 (GRCm39) |
R47L |
probably damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,697,281 (GRCm39) |
I107F |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,869,801 (GRCm39) |
F754S |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,337,608 (GRCm39) |
T630A |
possibly damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slco1a5 |
C |
A |
6: 142,194,542 (GRCm39) |
C367F |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,613,959 (GRCm39) |
|
probably null |
Het |
| Slit2 |
G |
A |
5: 48,378,333 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
| Stk16 |
T |
A |
1: 75,190,248 (GRCm39) |
M111K |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,616,298 (GRCm39) |
I477V |
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,570,974 (GRCm39) |
E199D |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,424,407 (GRCm39) |
D459E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,541,881 (GRCm39) |
R25375G |
possibly damaging |
Het |
| Tubgcp2 |
A |
T |
7: 139,578,701 (GRCm39) |
M757K |
possibly damaging |
Het |
| Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
| Ubqln5 |
A |
G |
7: 103,778,632 (GRCm39) |
V64A |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,709,204 (GRCm39) |
M1337V |
probably benign |
Het |
| Vmn1r201 |
T |
A |
13: 22,659,409 (GRCm39) |
Y208N |
probably damaging |
Het |
| Xkr8 |
C |
T |
4: 132,455,368 (GRCm39) |
R335H |
probably damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,373,870 (GRCm39) |
C25S |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,887,800 (GRCm39) |
N404I |
probably damaging |
Het |
|
| Other mutations in Pacsin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01152:Pacsin3
|
APN |
2 |
91,094,121 (GRCm39) |
missense |
probably benign |
|
|
IGL03071:Pacsin3
|
APN |
2 |
91,090,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03149:Pacsin3
|
APN |
2 |
91,091,852 (GRCm39) |
splice site |
probably benign |
|
|
pacifica
|
UTSW |
2 |
91,093,286 (GRCm39) |
splice site |
probably null |
|
|
R1179:Pacsin3
|
UTSW |
2 |
91,094,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Pacsin3
|
UTSW |
2 |
91,093,460 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3927:Pacsin3
|
UTSW |
2 |
91,093,286 (GRCm39) |
splice site |
probably null |
|
|
R4472:Pacsin3
|
UTSW |
2 |
91,093,288 (GRCm39) |
splice site |
probably null |
|
|
R5721:Pacsin3
|
UTSW |
2 |
91,094,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5732:Pacsin3
|
UTSW |
2 |
91,090,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6213:Pacsin3
|
UTSW |
2 |
91,090,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6449:Pacsin3
|
UTSW |
2 |
91,090,514 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6541:Pacsin3
|
UTSW |
2 |
91,093,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Pacsin3
|
UTSW |
2 |
91,093,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8513:Pacsin3
|
UTSW |
2 |
91,093,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9060:Pacsin3
|
UTSW |
2 |
91,091,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9772:Pacsin3
|
UTSW |
2 |
91,093,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Pacsin3
|
UTSW |
2 |
91,094,160 (GRCm39) |
missense |
probably benign |
|
|
R9793:Pacsin3
|
UTSW |
2 |
91,094,160 (GRCm39) |
missense |
probably benign |
|
|
R9795:Pacsin3
|
UTSW |
2 |
91,094,160 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGATTGACCCTGTCTTGCAC -3'
(R):5'- GCCGTCATACTTGTCGCTAC -3'
Sequencing Primer
(F):5'- GCACTTCATCCAGATTCTTCTAGGTG -3'
(R):5'- CATACTTGTCGCTACTGGAGAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation