Incidental Mutation 'R9060:Pacsin3'
| ID |
688905 |
| 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 |
068886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91086299-91095024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91091557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 85
(F85L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028691]
[ENSMUST00000028694]
[ENSMUST00000059566]
[ENSMUST00000080008]
[ENSMUST00000111349]
[ENSMUST00000131711]
[ENSMUST00000134699]
[ENSMUST00000138470]
[ENSMUST00000144394]
[ENSMUST00000154959]
[ENSMUST00000156919]
[ENSMUST00000168916]
|
| AlphaFold |
Q99JB8 |
| PDB Structure |
Crystal strcuture of mouse PACSIN3 BAR domain mutant [X-RAY DIFFRACTION]
Mouse PACSIN 3 F-BAR domain structure [X-RAY DIFFRACTION]
Crystal structure of mPACSIN 3 F-BAR domain mutant [X-RAY DIFFRACTION]
|
| 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 benign
Transcript: ENSMUST00000028694
AA Change: F85L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257
AA Change: F85L
| 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: ENSMUST00000059566
AA Change: F85L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257
AA Change: F85L
| 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 benign
Transcript: ENSMUST00000111349
AA Change: F85L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257
AA Change: F85L
| 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: 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: ENSMUST00000131711
AA Change: F85L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117214
Gene: ENSMUSG00000027257
AA Change: F85L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134699
AA Change: F85L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115046
Gene: ENSMUSG00000027257
AA Change: F85L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138470
AA Change: F85L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117230
Gene: ENSMUSG00000027257
AA Change: F85L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144394
AA Change: F85L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121297
Gene: ENSMUSG00000027257
AA Change: F85L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
95 |
4.88e-14 |
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
AA Change: F85L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122779
Gene: ENSMUSG00000027257
AA Change: F85L
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168916
AA Change: F85L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257
AA Change: F85L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (54/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
C |
17: 13,145,293 (GRCm39) |
V295G |
|
Het |
| Agfg1 |
T |
C |
1: 82,872,254 (GRCm39) |
V529A |
possibly damaging |
Het |
| Ap1g2 |
G |
A |
14: 55,337,887 (GRCm39) |
P667L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,783,973 (GRCm39) |
S176T |
probably damaging |
Het |
| Casq2 |
A |
G |
3: 102,052,619 (GRCm39) |
D377G |
unknown |
Het |
| Ccdc14 |
T |
C |
16: 34,517,486 (GRCm39) |
L104P |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,074,281 (GRCm39) |
I511T |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,687,165 (GRCm39) |
Y46H |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,186,302 (GRCm39) |
V799A |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,557,711 (GRCm39) |
V175A |
probably benign |
Het |
| Dclk1 |
C |
A |
3: 55,163,575 (GRCm39) |
D222E |
probably benign |
Het |
| Dnah10 |
G |
T |
5: 124,905,141 (GRCm39) |
C4058F |
probably damaging |
Het |
| Dnai4 |
A |
T |
4: 102,947,750 (GRCm39) |
D175E |
probably benign |
Het |
| Elmod3 |
A |
T |
6: 72,543,790 (GRCm39) |
Y334N |
probably damaging |
Het |
| Enah |
C |
A |
1: 181,749,817 (GRCm39) |
A341S |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,311,364 (GRCm39) |
*396Q |
probably null |
Het |
| Epb41l1 |
T |
A |
2: 156,345,679 (GRCm39) |
Y227* |
probably null |
Het |
| Epha5 |
A |
T |
5: 84,218,977 (GRCm39) |
D765E |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,910,782 (GRCm39) |
N1740S |
possibly damaging |
Het |
| Fhip2a |
C |
T |
19: 57,361,450 (GRCm39) |
H125Y |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,737,710 (GRCm39) |
R222H |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,269,480 (GRCm39) |
D1105G |
probably damaging |
Het |
| Hoxa13 |
T |
A |
6: 52,236,897 (GRCm39) |
Y121F |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Jag1 |
T |
G |
2: 136,931,204 (GRCm39) |
T643P |
probably damaging |
Het |
| Limd1 |
T |
A |
9: 123,309,514 (GRCm39) |
S404R |
probably benign |
Het |
| Micall2 |
A |
T |
5: 139,705,035 (GRCm39) |
S100T |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,271,735 (GRCm39) |
L419Q |
probably damaging |
Het |
| Ms4a13 |
A |
C |
19: 11,168,950 (GRCm39) |
I25S |
|
Het |
| Nnmt |
T |
C |
9: 48,503,367 (GRCm39) |
T220A |
probably benign |
Het |
| Nrg3 |
G |
A |
14: 38,734,052 (GRCm39) |
T278I |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,783,895 (GRCm39) |
W1146R |
probably damaging |
Het |
| Or13a28 |
T |
G |
7: 140,217,695 (GRCm39) |
L27R |
|
Het |
| Or5m10 |
T |
C |
2: 85,717,920 (GRCm39) |
Y259H |
probably benign |
Het |
| Padi4 |
T |
A |
4: 140,477,953 (GRCm39) |
D465V |
probably damaging |
Het |
| Pakap |
A |
G |
4: 57,855,412 (GRCm39) |
E247G |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,726,599 (GRCm39) |
Y1819F |
unknown |
Het |
| Pitpnm1 |
C |
A |
19: 4,156,869 (GRCm39) |
T464N |
probably damaging |
Het |
| Rnf214 |
T |
C |
9: 45,809,772 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
G |
A |
1: 9,616,677 (GRCm39) |
G310D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,581,688 (GRCm39) |
|
probably null |
Het |
| Slc47a2 |
T |
C |
11: 61,227,699 (GRCm39) |
I142V |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,260,852 (GRCm39) |
R626C |
probably benign |
Het |
| Spart |
T |
C |
3: 55,032,275 (GRCm39) |
S370P |
probably benign |
Het |
| Spata31e1 |
G |
A |
13: 49,940,087 (GRCm39) |
S541F |
probably damaging |
Het |
| Spmap2 |
G |
T |
10: 79,420,571 (GRCm39) |
L189I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,282,821 (GRCm39) |
M67K |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,839,489 (GRCm39) |
Y1534* |
probably null |
Het |
| Usp13 |
T |
C |
3: 32,965,812 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,134,585 (GRCm39) |
M1T |
probably null |
Het |
| Zc3h7a |
G |
A |
16: 10,969,047 (GRCm39) |
T438I |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,803 (GRCm39) |
V297A |
probably benign |
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 |
|
|
R5699:Pacsin3
|
UTSW |
2 |
91,093,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCAGAGCAGAGTAGGGAATTCTAAC -3'
(R):5'- CTTCAGCCTCTTTAGCCAGG -3'
Sequencing Primer
(F):5'- ACAGGACTTGACACTGCTG -3'
(R):5'- CAGGGCTTCTGAGCTTTA -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation