Incidental Mutation 'IGL02480:Psd2'
| ID |
295152 |
| 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 # |
IGL02480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
36097883-36147768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36139136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 528
(R528H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115716]
[ENSMUST00000175734]
[ENSMUST00000176472]
[ENSMUST00000176873]
[ENSMUST00000177432]
|
| AlphaFold |
Q6P1I6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115716
AA Change: R531H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347
AA Change: R531H
| 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: R532H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347
AA Change: R532H
| 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: R531H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135285
Gene: ENSMUSG00000024347
AA Change: R531H
| 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: R532H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347
AA Change: R532H
| 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 damaging
Transcript: ENSMUST00000177432
AA Change: R528H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347
AA Change: R528H
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,946,908 (GRCm39) |
I202K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,221,869 (GRCm39) |
S169T |
possibly damaging |
Het |
| Acsm1 |
A |
T |
7: 119,255,265 (GRCm39) |
I389F |
possibly damaging |
Het |
| Actn2 |
T |
A |
13: 12,291,364 (GRCm39) |
Q680L |
probably benign |
Het |
| Ankrd13d |
G |
A |
19: 4,321,491 (GRCm39) |
P404S |
possibly damaging |
Het |
| Ankrd46 |
G |
T |
15: 36,484,142 (GRCm39) |
|
probably benign |
Het |
| Arfip1 |
A |
G |
3: 84,455,239 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,570,745 (GRCm39) |
L574F |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,120,838 (GRCm39) |
I256V |
probably benign |
Het |
| Cyp3a44 |
C |
T |
5: 145,731,715 (GRCm39) |
E144K |
possibly damaging |
Het |
| Efna1 |
T |
C |
3: 89,179,902 (GRCm39) |
E109G |
probably benign |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| Eml1 |
C |
A |
12: 108,487,955 (GRCm39) |
Q556K |
probably benign |
Het |
| Eml5 |
T |
G |
12: 98,842,502 (GRCm39) |
T199P |
probably damaging |
Het |
| Entr1 |
T |
A |
2: 26,275,132 (GRCm39) |
H342L |
probably damaging |
Het |
| Etl4 |
A |
C |
2: 20,793,335 (GRCm39) |
M687L |
probably damaging |
Het |
| Fam199x |
C |
A |
X: 135,950,788 (GRCm39) |
T56K |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,579 (GRCm39) |
D4845G |
probably damaging |
Het |
| Gm4987 |
T |
A |
X: 45,544,973 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
A |
1: 16,839,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5930 |
T |
C |
14: 44,575,087 (GRCm39) |
Y68C |
probably benign |
Het |
| Gucy1a1 |
C |
T |
3: 82,005,040 (GRCm39) |
V582M |
probably damaging |
Het |
| Haghl |
G |
T |
17: 26,002,033 (GRCm39) |
A220E |
probably damaging |
Het |
| Hsf5 |
G |
A |
11: 87,522,483 (GRCm39) |
A359T |
possibly damaging |
Het |
| Igsf9 |
C |
A |
1: 172,324,480 (GRCm39) |
D799E |
possibly damaging |
Het |
| Igsf9 |
A |
T |
1: 172,312,345 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,124,184 (GRCm39) |
F703I |
probably damaging |
Het |
| Kcna6 |
G |
A |
6: 126,715,531 (GRCm39) |
P453S |
probably damaging |
Het |
| Lzic |
A |
T |
4: 149,571,260 (GRCm39) |
N15I |
probably damaging |
Het |
| Or1j10 |
T |
G |
2: 36,267,504 (GRCm39) |
C239G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,314 (GRCm39) |
R89G |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,122,858 (GRCm39) |
I82V |
possibly damaging |
Het |
| Or5p78 |
C |
T |
7: 108,212,018 (GRCm39) |
T168I |
probably benign |
Het |
| P4ha1 |
T |
C |
10: 59,179,574 (GRCm39) |
Y141H |
probably damaging |
Het |
| Paxx |
G |
A |
2: 25,350,024 (GRCm39) |
P164S |
probably damaging |
Het |
| Pgd |
A |
G |
4: 149,241,075 (GRCm39) |
V278A |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,526 (GRCm39) |
Y352C |
probably damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
| Poli |
T |
C |
18: 70,658,477 (GRCm39) |
T86A |
probably benign |
Het |
| Ptchd4 |
G |
T |
17: 42,813,431 (GRCm39) |
C444F |
probably benign |
Het |
| Ptpra |
C |
A |
2: 130,346,181 (GRCm39) |
T114K |
probably benign |
Het |
| Rho |
A |
G |
6: 115,912,505 (GRCm39) |
N123S |
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,120,770 (GRCm39) |
D993G |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,566,411 (GRCm39) |
L38P |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,244,569 (GRCm39) |
V346M |
possibly damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,669,928 (GRCm39) |
I7V |
probably benign |
Het |
| Spag9 |
C |
T |
11: 93,999,413 (GRCm39) |
Q691* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,342,763 (GRCm39) |
V45D |
probably null |
Het |
| Tlr8 |
T |
A |
X: 166,027,179 (GRCm39) |
H557L |
probably 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 |
|
IGL02086:Psd2
|
APN |
18 |
36,138,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02132:Psd2
|
APN |
18 |
36,137,809 (GRCm39) |
splice site |
probably benign |
|
|
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