Incidental Mutation 'R4472:Pacsin3'
| ID |
330386 |
| 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 |
041729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4472 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91086299-91095024 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1608 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 91093288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028691]
[ENSMUST00000028694]
[ENSMUST00000059566]
[ENSMUST00000080008]
[ENSMUST00000111349]
[ENSMUST00000168916]
[ENSMUST00000134699]
[ENSMUST00000138470]
[ENSMUST00000131711]
[ENSMUST00000154959]
[ENSMUST00000144394]
[ENSMUST00000156919]
|
| 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: K260R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028694
Gene: ENSMUSG00000027257
AA Change: K260R
| 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: K260R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000054391
Gene: ENSMUSG00000027257
AA Change: K260R
| 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: K260R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106981
Gene: ENSMUSG00000027257
AA Change: K260R
| 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 |
noncoding transcript
Transcript: ENSMUST00000141313
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168916
AA Change: K260R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129175
Gene: ENSMUSG00000027257
AA Change: K260R
| 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 |
probably null
Transcript: ENSMUST00000134699
|
| SMART Domains |
Protein: ENSMUSP00000115046
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000138470
|
| SMART Domains |
Protein: ENSMUSP00000117230
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000131711
|
| SMART Domains |
Protein: ENSMUSP00000117214
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably null
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 null
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: 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 null
Transcript: ENSMUST00000156919
|
| SMART Domains |
Protein: ENSMUSP00000122779
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.0752 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (66/68) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
A |
T |
9: 39,961,994 (GRCm39) |
|
noncoding transcript |
Het |
| Accsl |
T |
A |
2: 93,694,336 (GRCm39) |
|
probably null |
Het |
| Accsl |
G |
T |
2: 93,694,337 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
G |
A |
11: 7,080,369 (GRCm39) |
V371M |
probably damaging |
Het |
| Adgrb2 |
C |
T |
4: 129,902,146 (GRCm39) |
A509V |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,312,525 (GRCm39) |
Q754L |
probably damaging |
Het |
| Agap2 |
T |
C |
10: 126,927,082 (GRCm39) |
I1008T |
probably damaging |
Het |
| Aph1c |
T |
G |
9: 66,735,051 (GRCm39) |
H150P |
probably damaging |
Het |
| Atcay |
T |
C |
10: 81,048,361 (GRCm39) |
R242G |
possibly damaging |
Het |
| Atg2a |
G |
A |
19: 6,308,985 (GRCm39) |
V1724M |
probably damaging |
Het |
| Bbs12 |
T |
C |
3: 37,373,369 (GRCm39) |
V54A |
possibly damaging |
Het |
| Card14 |
A |
G |
11: 119,224,784 (GRCm39) |
M604V |
possibly damaging |
Het |
| Cd28 |
A |
T |
1: 60,802,393 (GRCm39) |
H104L |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 10,048,776 (GRCm39) |
D262E |
probably damaging |
Het |
| Col6a3 |
A |
G |
1: 90,749,736 (GRCm39) |
V366A |
probably benign |
Het |
| Csnk1d |
G |
A |
11: 120,855,800 (GRCm39) |
|
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,803,063 (GRCm39) |
|
probably benign |
Het |
| Dpy19l4 |
G |
A |
4: 11,304,053 (GRCm39) |
T119M |
possibly damaging |
Het |
| Eif3f |
T |
C |
7: 108,540,153 (GRCm39) |
V316A |
possibly damaging |
Het |
| Fbrsl1 |
G |
A |
5: 110,526,932 (GRCm39) |
|
probably benign |
Het |
| Fbxo10 |
C |
T |
4: 45,043,693 (GRCm39) |
R710H |
probably damaging |
Het |
| Fbxw9 |
G |
A |
8: 85,786,829 (GRCm39) |
D25N |
probably damaging |
Het |
| Gm14295 |
C |
T |
2: 176,501,386 (GRCm39) |
T292I |
possibly damaging |
Het |
| Gm4884 |
C |
G |
7: 40,692,687 (GRCm39) |
Q219E |
probably benign |
Het |
| Gpr150 |
A |
G |
13: 76,204,273 (GRCm39) |
V224A |
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,750,935 (GRCm39) |
I355N |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,804,178 (GRCm39) |
S374P |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,289,782 (GRCm39) |
N5458K |
probably damaging |
Het |
| Man1b1 |
C |
G |
2: 25,222,867 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,671,645 (GRCm39) |
|
probably null |
Het |
| Mrgpra4 |
T |
C |
7: 47,631,539 (GRCm39) |
T21A |
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,546,327 (GRCm39) |
V277L |
probably benign |
Het |
| Nkain4 |
C |
G |
2: 180,596,415 (GRCm39) |
M1I |
probably null |
Het |
| Nktr |
T |
C |
9: 121,577,962 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,879,220 (GRCm39) |
D373E |
possibly damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,870 (GRCm39) |
*312R |
probably null |
Het |
| Oser1 |
T |
A |
2: 163,257,500 (GRCm39) |
E11V |
probably null |
Het |
| Oser1 |
C |
T |
2: 163,257,501 (GRCm39) |
E11K |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,434 (GRCm39) |
S289G |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,314,176 (GRCm39) |
D1183G |
probably damaging |
Het |
| Pign |
T |
C |
1: 105,575,945 (GRCm39) |
K232E |
probably benign |
Het |
| Polk |
A |
G |
13: 96,630,413 (GRCm39) |
S383P |
probably damaging |
Het |
| Prom2 |
C |
A |
2: 127,382,111 (GRCm39) |
R101L |
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,027 (GRCm39) |
V482A |
probably benign |
Het |
| Rexo1 |
A |
T |
10: 80,378,492 (GRCm39) |
S476T |
probably damaging |
Het |
| Rnf31 |
T |
A |
14: 55,840,777 (GRCm39) |
Y1015N |
probably damaging |
Het |
| Spata3 |
T |
C |
1: 85,954,152 (GRCm39) |
Y305H |
probably benign |
Het |
| Sv2a |
G |
A |
3: 96,099,810 (GRCm39) |
V587M |
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,766,069 (GRCm39) |
|
probably null |
Het |
| Syt17 |
A |
G |
7: 118,036,040 (GRCm39) |
|
probably null |
Het |
| Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
| Tcaf1 |
A |
C |
6: 42,656,248 (GRCm39) |
S243A |
probably benign |
Het |
| Tmem9 |
A |
G |
1: 135,955,234 (GRCm39) |
T123A |
probably benign |
Het |
| Trav4-4-dv10 |
T |
C |
14: 53,921,187 (GRCm39) |
|
probably benign |
Het |
| Trbv15 |
G |
A |
6: 41,118,493 (GRCm39) |
R83Q |
probably damaging |
Het |
| Trim27 |
A |
G |
13: 21,374,056 (GRCm39) |
I268V |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,987,857 (GRCm39) |
S1031C |
probably damaging |
Het |
| Vmn1r89 |
C |
A |
7: 12,953,799 (GRCm39) |
H110Q |
probably benign |
Het |
| Vmn2r30 |
T |
C |
7: 7,320,091 (GRCm39) |
N545S |
probably damaging |
Het |
| Wls |
G |
A |
3: 159,603,020 (GRCm39) |
M144I |
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,076,344 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,913,023 (GRCm39) |
L56Q |
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 |
|
|
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 |
|
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'- TGCTCAGAGAATGCTGGTG -3'
(R):5'- ATCACTGGCAGCCTCAATGC -3'
Sequencing Primer
(F):5'- AAGGCAGTCTGTCCTCACTG -3'
(R):5'- TCAATGCTCTGCTGCAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation