Incidental Mutation 'R6213:Pacsin3'
| ID |
503543 |
| 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 |
044346-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6213 (G1)
|
| Quality Score |
127.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
91086299-91095024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 91090779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 29
(V29F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028691]
[ENSMUST00000028694]
[ENSMUST00000059566]
[ENSMUST00000080008]
[ENSMUST00000111349]
[ENSMUST00000131711]
[ENSMUST00000134699]
[ENSMUST00000138470]
[ENSMUST00000144394]
[ENSMUST00000154959]
[ENSMUST00000156919]
[ENSMUST00000168916]
|
| 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 benign
Transcript: ENSMUST00000028694
AA Change: V29F
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257
AA Change: V29F
| 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: V29F
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257
AA Change: V29F
| 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: V29F
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257
AA Change: V29F
| 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: ENSMUST00000131711
AA Change: V29F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117214
Gene: ENSMUSG00000027257
AA Change: V29F
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134699
AA Change: V29F
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000115046
Gene: ENSMUSG00000027257
AA Change: V29F
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138470
AA Change: V29F
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000117230
Gene: ENSMUSG00000027257
AA Change: V29F
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144394
AA Change: V29F
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121297
Gene: ENSMUSG00000027257
AA Change: V29F
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
95 |
4.88e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154959
AA Change: V29F
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000122769
Gene: ENSMUSG00000027257
AA Change: V29F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
14 |
64 |
2.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156919
AA Change: V29F
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000122779
Gene: ENSMUSG00000027257
AA Change: V29F
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168916
AA Change: V29F
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257
AA Change: V29F
| 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: ENSMUST00000150753
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180732
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143883
|
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,762 (GRCm39) |
Y207H |
probably damaging |
Het |
| Adcy7 |
G |
A |
8: 89,040,765 (GRCm39) |
V335M |
probably damaging |
Het |
| Apol11b |
A |
C |
15: 77,522,200 (GRCm39) |
D32E |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdkn1b |
T |
A |
6: 134,898,206 (GRCm39) |
D108E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,359,222 (GRCm39) |
D984G |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,947,830 (GRCm39) |
V128A |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,492,656 (GRCm39) |
S3162P |
probably damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,759,978 (GRCm39) |
T1394I |
probably damaging |
Het |
| Ddx6 |
T |
A |
9: 44,539,990 (GRCm39) |
L306Q |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,996,082 (GRCm39) |
S403T |
possibly damaging |
Het |
| F11 |
G |
T |
8: 45,694,537 (GRCm39) |
T608K |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,503,085 (GRCm39) |
R181H |
probably damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,771,864 (GRCm39) |
C260S |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,141 (GRCm39) |
S84T |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,724,019 (GRCm39) |
D332G |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,930,367 (GRCm39) |
Q102R |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,174 (GRCm39) |
D1597E |
probably benign |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Lypd8 |
A |
G |
11: 58,281,160 (GRCm39) |
T241A |
probably benign |
Het |
| Map1lc3a |
T |
C |
2: 155,118,935 (GRCm39) |
|
probably null |
Het |
| Mast1 |
G |
A |
8: 85,642,198 (GRCm39) |
T1052I |
probably damaging |
Het |
| Muc2 |
T |
C |
7: 141,305,151 (GRCm39) |
C152R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,903 (GRCm39) |
M2950L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,421,356 (GRCm39) |
D4282G |
possibly damaging |
Het |
| Myo16 |
G |
T |
8: 10,420,963 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,734,541 (GRCm39) |
F708I |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,353,549 (GRCm39) |
F558Y |
probably benign |
Het |
| Nat9 |
A |
T |
11: 115,075,932 (GRCm39) |
W30R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,364,390 (GRCm39) |
L1338S |
probably damaging |
Het |
| Nipsnap3b |
A |
G |
4: 53,017,066 (GRCm39) |
T97A |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,132,823 (GRCm39) |
Y301* |
probably null |
Het |
| Nrcam |
C |
T |
12: 44,609,215 (GRCm39) |
P447S |
possibly damaging |
Het |
| Or14c41 |
A |
G |
7: 86,234,485 (GRCm39) |
M1V |
probably null |
Het |
| Or1o4 |
T |
C |
17: 37,591,264 (GRCm39) |
S16G |
probably benign |
Het |
| Or2a14 |
A |
G |
6: 43,130,821 (GRCm39) |
N194S |
possibly damaging |
Het |
| Or52b4 |
T |
C |
7: 102,184,139 (GRCm39) |
Y62H |
probably damaging |
Het |
| Pdzrn3 |
A |
C |
6: 101,354,805 (GRCm39) |
D15E |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,504,752 (GRCm39) |
|
probably null |
Het |
| Pign |
A |
C |
1: 105,516,991 (GRCm39) |
V545G |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,593,994 (GRCm39) |
N1373S |
possibly damaging |
Het |
| Ptchd4 |
T |
A |
17: 42,688,251 (GRCm39) |
H264Q |
probably benign |
Het |
| Ptpn3 |
G |
T |
4: 57,265,012 (GRCm39) |
Q73K |
probably damaging |
Het |
| Ptrh1 |
G |
A |
2: 32,666,757 (GRCm39) |
V109I |
probably benign |
Het |
| Reg1 |
A |
T |
6: 78,404,386 (GRCm39) |
I87F |
possibly damaging |
Het |
| Rrp12 |
C |
A |
19: 41,857,217 (GRCm39) |
V1186L |
probably benign |
Het |
| Sall1 |
AGTGGTGGTGGTGGTGGTGGTGG |
AGTGGTGGTGGTGGTGGTGG |
8: 89,759,686 (GRCm39) |
|
probably benign |
Het |
| Slc23a3 |
A |
C |
1: 75,108,392 (GRCm39) |
F279V |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Suds3 |
A |
G |
5: 117,244,727 (GRCm39) |
L115P |
probably damaging |
Het |
| Tekt2 |
G |
A |
4: 126,216,989 (GRCm39) |
A260V |
probably damaging |
Het |
| Tgfb3 |
T |
A |
12: 86,104,621 (GRCm39) |
Y391F |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,209,950 (GRCm39) |
S866P |
probably benign |
Het |
| Tspan14 |
A |
G |
14: 40,635,372 (GRCm39) |
Y175H |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,971,332 (GRCm39) |
T568A |
probably benign |
Het |
| Vmn1r216 |
T |
G |
13: 23,283,339 (GRCm39) |
D7E |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zfp281 |
T |
C |
1: 136,553,250 (GRCm39) |
V76A |
probably benign |
Het |
| Zfp36l2 |
T |
C |
17: 84,493,980 (GRCm39) |
N219S |
probably damaging |
Het |
| Zfp626 |
T |
C |
7: 27,507,717 (GRCm39) |
M42T |
probably benign |
Het |
| Zscan21 |
C |
T |
5: 138,123,359 (GRCm39) |
P13S |
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 |
|
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'- ATTCCGTGCTGCAGGGATAC -3'
(R):5'- TCATAACCTTTGAGGCCTTTGG -3'
Sequencing Primer
(F):5'- GGATACCATGGCTCCAGAGG -3'
(R):5'- CCTTTGGTAGGCCTGTATACTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation