Incidental Mutation 'R6152:Pacsin2'
| ID |
489349 |
| 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 |
044299-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6152 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
83259812-83348800 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 83261900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 154
(D154E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056177]
[ENSMUST00000165095]
[ENSMUST00000171436]
[ENSMUST00000230679]
[ENSMUST00000231184]
[ENSMUST00000231946]
|
| AlphaFold |
Q9WVE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056177
AA Change: D460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058320
Gene: ENSMUSG00000016664
AA Change: D460E
| 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 damaging
Transcript: ENSMUST00000165095
AA Change: D460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130098
Gene: ENSMUSG00000016664
AA Change: D460E
| 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 damaging
Transcript: ENSMUST00000171436
AA Change: D460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131504
Gene: ENSMUSG00000016664
AA Change: D460E
| 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 damaging
Transcript: ENSMUST00000230030
AA Change: D245E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230679
AA Change: D460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231043
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231184
AA Change: D460E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231946
AA Change: D154E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| 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 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,204,187 (GRCm39) |
C363R |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Anln |
A |
C |
9: 22,271,803 (GRCm39) |
I684R |
probably damaging |
Het |
| Atoh7 |
A |
T |
10: 62,936,278 (GRCm39) |
D115V |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,896,100 (GRCm39) |
I223K |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,961,419 (GRCm39) |
C345S |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,823,358 (GRCm39) |
E1003G |
possibly damaging |
Het |
| Chpf |
C |
T |
1: 75,452,287 (GRCm39) |
R389H |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,593,881 (GRCm39) |
D740G |
possibly damaging |
Het |
| Col19a1 |
T |
C |
1: 24,413,702 (GRCm39) |
T411A |
unknown |
Het |
| Dgat2 |
T |
C |
7: 98,813,885 (GRCm39) |
N99S |
probably benign |
Het |
| Fbxo7 |
A |
T |
10: 85,860,560 (GRCm39) |
T56S |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,974,950 (GRCm39) |
Q71L |
unknown |
Het |
| Gpr161 |
T |
A |
1: 165,137,864 (GRCm39) |
V150E |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,441,176 (GRCm39) |
E5360G |
probably damaging |
Het |
| Hmg20a |
A |
G |
9: 56,388,892 (GRCm39) |
D153G |
probably damaging |
Het |
| Hrct1 |
T |
A |
4: 43,727,498 (GRCm39) |
V46D |
possibly damaging |
Het |
| Idh1 |
T |
C |
1: 65,198,689 (GRCm39) |
T394A |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,836,598 (GRCm39) |
I547T |
unknown |
Het |
| Klhdc3 |
A |
T |
17: 46,988,633 (GRCm39) |
I142N |
probably damaging |
Het |
| Lrrc39 |
G |
T |
3: 116,364,624 (GRCm39) |
|
probably null |
Het |
| Mamdc4 |
T |
C |
2: 25,457,451 (GRCm39) |
D510G |
probably damaging |
Het |
| Mcm2 |
TTCTGATAGATGGTCTG |
TTCTG |
6: 88,866,891 (GRCm39) |
|
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,535,538 (GRCm39) |
I275V |
possibly damaging |
Het |
| Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
| Or5b24 |
A |
T |
19: 12,912,851 (GRCm39) |
I250L |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,886 (GRCm39) |
C755* |
probably null |
Het |
| Pcnx2 |
T |
C |
8: 126,480,491 (GRCm39) |
S1939G |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,825,985 (GRCm39) |
H602Q |
probably benign |
Het |
| Pon3 |
G |
A |
6: 5,221,716 (GRCm39) |
R305C |
probably damaging |
Het |
| Prpf6 |
A |
G |
2: 181,263,580 (GRCm39) |
R147G |
probably damaging |
Het |
| Sh3yl1 |
A |
G |
12: 30,992,034 (GRCm39) |
E201G |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,982,210 (GRCm39) |
Y22H |
probably damaging |
Het |
| Sult6b2 |
A |
C |
6: 142,750,102 (GRCm39) |
S5R |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tysnd1 |
A |
G |
10: 61,532,113 (GRCm39) |
D255G |
probably damaging |
Het |
| Zbtb6 |
A |
C |
2: 37,319,255 (GRCm39) |
I224M |
probably benign |
Het |
| Zdhhc8 |
G |
T |
16: 18,041,202 (GRCm39) |
N719K |
possibly damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,946,260 (GRCm39) |
E45G |
possibly damaging |
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 |
|
R2406:Pacsin2
|
UTSW |
15 |
83,269,313 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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'- GTGGAGTGGATGCCTACATG -3'
(R):5'- TAGTGAATATCCAGGGTCCTGC -3'
Sequencing Primer
(F):5'- CTACATGGCTGCTGGGGG -3'
(R):5'- GTGAATATCCAGGGTCCTGCCTTAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation