Incidental Mutation 'IGL02132:Psd2'
| ID |
281056 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psd2
|
| Ensembl Gene |
ENSMUSG00000024347 |
| Gene Name |
pleckstrin and Sec7 domain containing 2 |
| Synonyms |
EFA6C, 6330404E20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02132
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36097883-36147768 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 36137809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115716]
[ENSMUST00000175734]
[ENSMUST00000176472]
[ENSMUST00000176873]
[ENSMUST00000177432]
|
| AlphaFold |
Q6P1I6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115716
|
| SMART Domains |
Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
Sec7
|
270 |
461 |
4.69e-56 |
SMART |
|
PH
|
510 |
624 |
4.35e-14 |
SMART |
|
Blast:Sec7
|
653 |
705 |
4e-24 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175720
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175734
|
| SMART Domains |
Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
Sec7
|
270 |
462 |
4.1e-55 |
SMART |
|
PH
|
511 |
625 |
1.9e-16 |
SMART |
|
Blast:Sec7
|
654 |
706 |
4e-24 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176472
|
| SMART Domains |
Protein: ENSMUSP00000135285
Gene: ENSMUSG00000024347
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
Sec7
|
270 |
461 |
4.69e-56 |
SMART |
|
Pfam:PH_9
|
511 |
553 |
4.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176873
|
| SMART Domains |
Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
Sec7
|
270 |
462 |
4.2e-55 |
SMART |
|
PH
|
511 |
625 |
1.9e-16 |
SMART |
|
Blast:Sec7
|
654 |
706 |
4e-24 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177432
|
| SMART Domains |
Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
264 |
N/A |
INTRINSIC |
|
Sec7
|
270 |
461 |
4.69e-56 |
SMART |
|
PH
|
510 |
621 |
5.36e-14 |
SMART |
|
Blast:Sec7
|
650 |
702 |
4e-24 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
G |
A |
10: 120,614,635 (GRCm39) |
|
probably benign |
Het |
| 4930432E11Rik |
C |
T |
7: 29,262,704 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy10 |
T |
C |
1: 165,400,112 (GRCm39) |
V1507A |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,110,746 (GRCm39) |
M1010L |
unknown |
Het |
| Bmp10 |
T |
C |
6: 87,411,130 (GRCm39) |
S308P |
probably benign |
Het |
| Cnih3 |
C |
A |
1: 181,282,274 (GRCm39) |
Y169* |
probably null |
Het |
| Cpsf4l |
A |
G |
11: 113,590,685 (GRCm39) |
S222P |
possibly damaging |
Het |
| Cyp2d10 |
G |
A |
15: 82,288,808 (GRCm39) |
|
probably benign |
Het |
| Dcstamp |
A |
T |
15: 39,617,928 (GRCm39) |
E112D |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,929,496 (GRCm39) |
Q3967* |
probably null |
Het |
| Gcm1 |
C |
A |
9: 77,972,121 (GRCm39) |
P354H |
possibly damaging |
Het |
| Gen1 |
A |
G |
12: 11,291,867 (GRCm39) |
S706P |
probably benign |
Het |
| Glb1l3 |
G |
T |
9: 26,736,466 (GRCm39) |
T532N |
probably benign |
Het |
| Gm5069 |
T |
A |
1: 180,154,872 (GRCm39) |
|
probably benign |
Het |
| Gzmc |
A |
C |
14: 56,471,422 (GRCm39) |
F40V |
probably benign |
Het |
| Itgb2 |
G |
T |
10: 77,385,895 (GRCm39) |
C286F |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,131,124 (GRCm39) |
Y48C |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,367,960 (GRCm39) |
S184L |
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,798,945 (GRCm39) |
N203K |
probably benign |
Het |
| Nrxn2 |
G |
A |
19: 6,522,306 (GRCm39) |
G182R |
probably damaging |
Het |
| Or4k15c |
T |
C |
14: 50,321,943 (GRCm39) |
N65S |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,503 (GRCm39) |
V146A |
probably benign |
Het |
| Or5g23 |
A |
C |
2: 85,438,664 (GRCm39) |
L197V |
probably benign |
Het |
| Otog |
C |
T |
7: 45,954,903 (GRCm39) |
S2692L |
probably damaging |
Het |
| Pde9a |
C |
T |
17: 31,672,444 (GRCm39) |
T34I |
probably benign |
Het |
| Phip |
T |
C |
9: 82,763,394 (GRCm39) |
T1295A |
possibly damaging |
Het |
| Pik3cb |
A |
G |
9: 98,953,430 (GRCm39) |
V451A |
probably benign |
Het |
| Pycr2 |
T |
C |
1: 180,733,762 (GRCm39) |
I118T |
probably damaging |
Het |
| Rnf17 |
T |
G |
14: 56,658,623 (GRCm39) |
M104R |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,266,259 (GRCm39) |
V615A |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,327,747 (GRCm39) |
R511W |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,854,804 (GRCm39) |
N478D |
probably benign |
Het |
| Trps1 |
T |
A |
15: 50,685,674 (GRCm39) |
S584C |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,284,491 (GRCm39) |
|
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,567,787 (GRCm39) |
S1027P |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,783,760 (GRCm39) |
I929K |
probably benign |
Het |
|
| Other mutations in Psd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01486:Psd2
|
APN |
18 |
36,113,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01578:Psd2
|
APN |
18 |
36,112,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02086:Psd2
|
APN |
18 |
36,138,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02480:Psd2
|
APN |
18 |
36,139,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02726:Psd2
|
APN |
18 |
36,120,355 (GRCm39) |
critical splice donor site |
probably null |
|
|
recluse
|
UTSW |
18 |
36,112,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
widow
|
UTSW |
18 |
36,113,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
3-1:Psd2
|
UTSW |
18 |
36,117,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Psd2
|
UTSW |
18 |
36,137,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Psd2
|
UTSW |
18 |
36,137,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0320:Psd2
|
UTSW |
18 |
36,112,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Psd2
|
UTSW |
18 |
36,113,546 (GRCm39) |
splice site |
probably benign |
|
|
R0685:Psd2
|
UTSW |
18 |
36,136,044 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0698:Psd2
|
UTSW |
18 |
36,145,764 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0730:Psd2
|
UTSW |
18 |
36,111,627 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0971:Psd2
|
UTSW |
18 |
36,112,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1085:Psd2
|
UTSW |
18 |
36,145,830 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1535:Psd2
|
UTSW |
18 |
36,138,843 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2056:Psd2
|
UTSW |
18 |
36,139,744 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4011:Psd2
|
UTSW |
18 |
36,120,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4246:Psd2
|
UTSW |
18 |
36,139,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4335:Psd2
|
UTSW |
18 |
36,140,583 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4584:Psd2
|
UTSW |
18 |
36,145,881 (GRCm39) |
missense |
probably benign |
|
|
R4942:Psd2
|
UTSW |
18 |
36,111,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Psd2
|
UTSW |
18 |
36,112,863 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5373:Psd2
|
UTSW |
18 |
36,140,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5374:Psd2
|
UTSW |
18 |
36,140,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Psd2
|
UTSW |
18 |
36,140,577 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6200:Psd2
|
UTSW |
18 |
36,139,776 (GRCm39) |
splice site |
probably null |
|
|
R6925:Psd2
|
UTSW |
18 |
36,112,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Psd2
|
UTSW |
18 |
36,113,385 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7074:Psd2
|
UTSW |
18 |
36,143,737 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7142:Psd2
|
UTSW |
18 |
36,113,097 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7239:Psd2
|
UTSW |
18 |
36,113,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Psd2
|
UTSW |
18 |
36,113,389 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7581:Psd2
|
UTSW |
18 |
36,113,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7793:Psd2
|
UTSW |
18 |
36,136,032 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8221:Psd2
|
UTSW |
18 |
36,113,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8310:Psd2
|
UTSW |
18 |
36,112,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Psd2
|
UTSW |
18 |
36,121,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9463:Psd2
|
UTSW |
18 |
36,143,798 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0065:Psd2
|
UTSW |
18 |
36,135,995 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Psd2
|
UTSW |
18 |
36,111,333 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation