Incidental Mutation 'R2406:Pacsin2'
| ID |
248028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pacsin2
|
| Ensembl Gene |
ENSMUSG00000016664 |
| Gene Name |
protein kinase C and casein kinase substrate in neurons 2 |
| Synonyms |
Syndapin II |
| MMRRC Submission |
040372-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2406 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
83259812-83348800 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 83269313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056177]
[ENSMUST00000165095]
[ENSMUST00000171436]
[ENSMUST00000230679]
[ENSMUST00000230816]
[ENSMUST00000231184]
[ENSMUST00000231946]
|
| AlphaFold |
Q9WVE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056177
|
| SMART Domains |
Protein: ENSMUSP00000058320
Gene: ENSMUSG00000016664
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
16 |
104 |
8.73e-25 |
SMART |
|
low complexity region
|
146 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
SH3
|
429 |
486 |
2.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165095
|
| SMART Domains |
Protein: ENSMUSP00000130098
Gene: ENSMUSG00000016664
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
16 |
104 |
8.73e-25 |
SMART |
|
low complexity region
|
146 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
SH3
|
429 |
486 |
2.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171436
|
| SMART Domains |
Protein: ENSMUSP00000131504
Gene: ENSMUSG00000016664
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
16 |
104 |
8.73e-25 |
SMART |
|
low complexity region
|
146 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
238 |
N/A |
INTRINSIC |
|
SH3
|
429 |
486 |
2.04e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230679
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230960
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231043
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231946
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (42/44) |
| 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 by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
A |
17: 35,879,352 (GRCm39) |
V230E |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,230,064 (GRCm39) |
|
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,473,344 (GRCm39) |
I180V |
possibly damaging |
Het |
| C9 |
T |
C |
15: 6,512,780 (GRCm39) |
S301P |
possibly damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,268,558 (GRCm39) |
Q1214R |
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,697,043 (GRCm39) |
I351T |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,741,723 (GRCm39) |
E1177G |
probably damaging |
Het |
| Colgalt1 |
G |
A |
8: 72,070,312 (GRCm39) |
C198Y |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,182,795 (GRCm39) |
R871C |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,457 (GRCm39) |
D433V |
probably benign |
Het |
| Eif4ebp1 |
A |
G |
8: 27,763,362 (GRCm39) |
I52V |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,394,195 (GRCm39) |
I86T |
probably damaging |
Het |
| Gm10650 |
A |
G |
3: 127,833,530 (GRCm39) |
|
noncoding transcript |
Het |
| Helz |
G |
A |
11: 107,577,378 (GRCm39) |
A1910T |
unknown |
Het |
| Hsf2 |
C |
T |
10: 57,373,642 (GRCm39) |
T70I |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,437,447 (GRCm39) |
|
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,372,546 (GRCm39) |
D933G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,429,346 (GRCm39) |
I832T |
probably damaging |
Het |
| Mapk15 |
T |
C |
15: 75,870,697 (GRCm39) |
S512P |
possibly damaging |
Het |
| Mybpc2 |
A |
T |
7: 44,171,149 (GRCm39) |
I134N |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,150,000 (GRCm39) |
E1853G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,897,279 (GRCm39) |
V690A |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,991 (GRCm39) |
V51A |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,155,596 (GRCm39) |
L2416Q |
probably damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,144,858 (GRCm39) |
I233N |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,865,631 (GRCm39) |
D428G |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,126,501 (GRCm39) |
D84G |
possibly damaging |
Het |
| Rasgrf2 |
T |
C |
13: 92,120,359 (GRCm39) |
D798G |
probably benign |
Het |
| Setd7 |
A |
G |
3: 51,450,097 (GRCm39) |
Y110H |
probably damaging |
Het |
| Sgta |
T |
C |
10: 80,887,081 (GRCm39) |
I61M |
possibly damaging |
Het |
| Shank1 |
A |
G |
7: 44,006,376 (GRCm39) |
D2031G |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,799,864 (GRCm39) |
Y88H |
probably damaging |
Het |
| Spata31f1a |
A |
T |
4: 42,851,696 (GRCm39) |
D153E |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,499,945 (GRCm39) |
I872V |
probably benign |
Het |
| Tmc4 |
A |
G |
7: 3,674,025 (GRCm39) |
F385L |
probably benign |
Het |
| Top3a |
A |
G |
11: 60,646,838 (GRCm39) |
F258L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,780,499 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Ubtf |
A |
T |
11: 102,199,528 (GRCm39) |
Y504* |
probably null |
Het |
| Wdfy3 |
T |
C |
5: 102,036,125 (GRCm39) |
T2098A |
probably damaging |
Het |
| Wnk2 |
G |
T |
13: 49,214,964 (GRCm39) |
T1194K |
possibly damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,725,879 (GRCm39) |
E560V |
probably benign |
Het |
|
| Other mutations in Pacsin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Pacsin2
|
APN |
15 |
83,270,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02574:Pacsin2
|
APN |
15 |
83,272,864 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0153:Pacsin2
|
UTSW |
15 |
83,261,862 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0399:Pacsin2
|
UTSW |
15 |
83,270,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Pacsin2
|
UTSW |
15 |
83,263,996 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0799:Pacsin2
|
UTSW |
15 |
83,263,998 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0842:Pacsin2
|
UTSW |
15 |
83,263,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1591:Pacsin2
|
UTSW |
15 |
83,269,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3906:Pacsin2
|
UTSW |
15 |
83,263,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4686:Pacsin2
|
UTSW |
15 |
83,265,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4815:Pacsin2
|
UTSW |
15 |
83,269,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5849:Pacsin2
|
UTSW |
15 |
83,274,719 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6010:Pacsin2
|
UTSW |
15 |
83,266,020 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6152:Pacsin2
|
UTSW |
15 |
83,261,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6367:Pacsin2
|
UTSW |
15 |
83,266,033 (GRCm39) |
missense |
probably benign |
|
|
R6457:Pacsin2
|
UTSW |
15 |
83,263,879 (GRCm39) |
splice site |
probably null |
|
|
R7158:Pacsin2
|
UTSW |
15 |
83,263,943 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7220:Pacsin2
|
UTSW |
15 |
83,269,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8089:Pacsin2
|
UTSW |
15 |
83,263,897 (GRCm39) |
missense |
probably benign |
|
|
R8464:Pacsin2
|
UTSW |
15 |
83,263,384 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Pacsin2
|
UTSW |
15 |
83,276,803 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Pacsin2
|
UTSW |
15 |
83,286,202 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAATCGTAGGTGAACAGAG -3'
(R):5'- ACAATGCAGGCGAGTGTCAG -3'
Sequencing Primer
(F):5'- CAGAGTTGTAGGCACACAGC -3'
(R):5'- TCCCAGGTTCTAGAGGATGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation