Incidental Mutation 'IGL02086:Psd2'
| ID |
285481 |
| 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 # |
IGL02086
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36097883-36147768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36138959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 528
(R528G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115716]
[ENSMUST00000175734]
[ENSMUST00000176472]
[ENSMUST00000176873]
[ENSMUST00000177432]
|
| AlphaFold |
Q6P1I6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115716
AA Change: R528G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347
AA Change: R528G
| 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 damaging
Transcript: ENSMUST00000175734
AA Change: R529G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347
AA Change: R529G
| 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 damaging
Transcript: ENSMUST00000176472
AA Change: R528G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135285
Gene: ENSMUSG00000024347
AA Change: R528G
| 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 damaging
Transcript: ENSMUST00000176873
AA Change: R529G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347
AA Change: R529G
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930426L09Rik |
T |
C |
2: 19,003,623 (GRCm39) |
|
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,462,930 (GRCm39) |
|
probably benign |
Het |
| Asb4 |
T |
C |
6: 5,398,386 (GRCm39) |
I117T |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,946,822 (GRCm39) |
L2847R |
probably damaging |
Het |
| C2cd2 |
A |
G |
16: 97,691,208 (GRCm39) |
|
probably benign |
Het |
| Ccdc77 |
C |
A |
6: 120,316,119 (GRCm39) |
C186F |
possibly damaging |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,384 (GRCm39) |
|
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,345,919 (GRCm39) |
D166E |
probably benign |
Het |
| Cfap100 |
A |
G |
6: 90,390,954 (GRCm39) |
F8L |
probably damaging |
Het |
| Col2a1 |
C |
T |
15: 97,884,618 (GRCm39) |
|
probably null |
Het |
| Dbf4 |
A |
G |
5: 8,453,189 (GRCm39) |
I270T |
probably benign |
Het |
| Dkk3 |
T |
C |
7: 111,748,236 (GRCm39) |
S123G |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,824,809 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
A |
G |
10: 53,575,351 (GRCm39) |
I30T |
probably damaging |
Het |
| Fam20a |
T |
C |
11: 109,564,239 (GRCm39) |
I505V |
probably benign |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Fcho1 |
T |
C |
8: 72,169,444 (GRCm39) |
E154G |
probably damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,329,958 (GRCm39) |
I362M |
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,931,255 (GRCm39) |
E1990D |
probably benign |
Het |
| Lancl2 |
A |
G |
6: 57,711,024 (GRCm39) |
Y394C |
probably damaging |
Het |
| Lgi2 |
G |
A |
5: 52,723,299 (GRCm39) |
S50F |
probably damaging |
Het |
| Map2k7 |
A |
G |
8: 4,288,950 (GRCm39) |
E14G |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,517 (GRCm39) |
I1009V |
probably damaging |
Het |
| Nat9 |
C |
A |
11: 115,074,234 (GRCm39) |
|
probably null |
Het |
| Nek2 |
G |
A |
1: 191,563,401 (GRCm39) |
A422T |
probably benign |
Het |
| Nfkbiz |
A |
T |
16: 55,636,034 (GRCm39) |
L509Q |
probably damaging |
Het |
| Or56b2 |
A |
T |
7: 104,337,634 (GRCm39) |
R137S |
probably benign |
Het |
| Pgap1 |
T |
A |
1: 54,587,147 (GRCm39) |
Q143L |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,392,217 (GRCm39) |
T1937I |
probably damaging |
Het |
| Pou1f1 |
A |
G |
16: 65,326,784 (GRCm39) |
E128G |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,989,996 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,434,046 (GRCm39) |
I566V |
probably benign |
Het |
| Ptprg |
G |
T |
14: 12,110,080 (GRCm38) |
E263* |
probably null |
Het |
| Radil |
T |
C |
5: 142,529,576 (GRCm39) |
D40G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,750,442 (GRCm39) |
Y1943F |
probably damaging |
Het |
| Slc30a4 |
C |
T |
2: 122,543,947 (GRCm39) |
|
probably benign |
Het |
| Slc31a1 |
A |
T |
4: 62,306,241 (GRCm39) |
T120S |
possibly damaging |
Het |
| Snrpe |
A |
G |
1: 133,537,487 (GRCm39) |
|
probably benign |
Het |
| Stx3 |
G |
T |
19: 11,796,046 (GRCm39) |
|
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,666,867 (GRCm39) |
E463G |
possibly damaging |
Het |
| Ufsp1 |
T |
A |
5: 137,293,178 (GRCm39) |
C43S |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,379,950 (GRCm39) |
M416K |
possibly damaging |
Het |
| Vmn1r81 |
A |
C |
7: 11,993,792 (GRCm39) |
V272G |
possibly damaging |
Het |
| Vmn2r107 |
T |
A |
17: 20,578,062 (GRCm39) |
I457K |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,433 (GRCm39) |
Y405C |
probably damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,210,440 (GRCm39) |
*242W |
probably null |
Het |
| Zfp503 |
T |
C |
14: 22,037,354 (GRCm39) |
K83R |
possibly damaging |
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 |
|
IGL02132:Psd2
|
APN |
18 |
36,137,809 (GRCm39) |
splice site |
probably benign |
|
|
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