Incidental Mutation 'R7142:Psd2'
| ID |
553502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd2
|
| Ensembl Gene |
ENSMUSG00000024347 |
| Gene Name |
pleckstrin and Sec7 domain containing 2 |
| Synonyms |
EFA6C, 6330404E20Rik |
| MMRRC Submission |
045250-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7142 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
36097883-36147768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36113097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 264
(D264G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135795
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115716]
[ENSMUST00000175734]
[ENSMUST00000176472]
[ENSMUST00000176873]
[ENSMUST00000177432]
|
| AlphaFold |
Q6P1I6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115716
AA Change: D264G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347
AA Change: D264G
| 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 |
possibly damaging
Transcript: ENSMUST00000175734
AA Change: D264G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347
AA Change: D264G
| 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
AA Change: D264G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000135285
Gene: ENSMUSG00000024347
AA Change: D264G
| 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 |
possibly damaging
Transcript: ENSMUST00000176873
AA Change: D264G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347
AA Change: D264G
| 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 |
possibly damaging
Transcript: ENSMUST00000177432
AA Change: D264G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347
AA Change: D264G
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,446 (GRCm39) |
H290L |
probably damaging |
Het |
| Abca1 |
T |
A |
4: 53,082,050 (GRCm39) |
S737C |
probably damaging |
Het |
| Abca14 |
G |
C |
7: 119,850,406 (GRCm39) |
V753L |
possibly damaging |
Het |
| Adgrl1 |
C |
T |
8: 84,663,829 (GRCm39) |
H1099Y |
probably benign |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Aldh1l1 |
G |
A |
6: 90,540,398 (GRCm39) |
D228N |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,288,230 (GRCm39) |
Q1883K |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,697,562 (GRCm39) |
Y125H |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,527,192 (GRCm39) |
Y139N |
probably damaging |
Het |
| Cd93 |
C |
T |
2: 148,283,725 (GRCm39) |
W540* |
probably null |
Het |
| Cdh3 |
G |
A |
8: 107,271,860 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
G |
A |
16: 65,343,794 (GRCm39) |
Q88* |
probably null |
Het |
| Cpt1a |
T |
C |
19: 3,425,100 (GRCm39) |
M489T |
probably benign |
Het |
| Ctsk |
G |
A |
3: 95,414,259 (GRCm39) |
V274M |
possibly damaging |
Het |
| Cyp3a44 |
A |
G |
5: 145,714,771 (GRCm39) |
V460A |
probably benign |
Het |
| Cypt4 |
C |
T |
9: 24,536,740 (GRCm39) |
R77* |
probably null |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dnah7a |
A |
T |
1: 53,452,927 (GRCm39) |
Y3850* |
probably null |
Het |
| Drosha |
A |
T |
15: 12,924,232 (GRCm39) |
T1205S |
possibly damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,465 (GRCm39) |
E116G |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,213,374 (GRCm39) |
E790G |
probably damaging |
Het |
| Fam163b |
C |
T |
2: 27,003,567 (GRCm39) |
R29Q |
probably damaging |
Het |
| Fbxo44 |
C |
T |
4: 148,243,269 (GRCm39) |
G50E |
unknown |
Het |
| Foxo3 |
T |
C |
10: 42,150,591 (GRCm39) |
|
probably null |
Het |
| Gnal |
C |
T |
18: 67,351,599 (GRCm39) |
P386L |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,654,615 (GRCm39) |
H478Q |
probably benign |
Het |
| Grhl2 |
A |
T |
15: 37,279,826 (GRCm39) |
D178V |
probably benign |
Het |
| Gtf2i |
C |
A |
5: 134,273,705 (GRCm39) |
V755L |
possibly damaging |
Het |
| Hal |
T |
C |
10: 93,336,513 (GRCm39) |
V414A |
possibly damaging |
Het |
| Hmx2 |
T |
C |
7: 131,157,465 (GRCm39) |
V193A |
probably damaging |
Het |
| Il17a |
T |
A |
1: 20,802,327 (GRCm39) |
M12K |
probably benign |
Het |
| Invs |
T |
A |
4: 48,407,696 (GRCm39) |
I557N |
probably damaging |
Het |
| Kng1 |
T |
A |
16: 22,898,170 (GRCm39) |
H523Q |
probably benign |
Het |
| Lrp4 |
T |
A |
2: 91,325,339 (GRCm39) |
I1388N |
probably damaging |
Het |
| Mboat4 |
A |
G |
8: 34,587,291 (GRCm39) |
I63V |
probably benign |
Het |
| Mcoln2 |
G |
A |
3: 145,889,324 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
A |
T |
1: 127,339,924 (GRCm39) |
D435V |
probably damaging |
Het |
| Mri1 |
C |
A |
8: 84,983,753 (GRCm39) |
R46L |
probably damaging |
Het |
| Mxra8 |
A |
T |
4: 155,927,519 (GRCm39) |
Y409F |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,062,901 (GRCm39) |
R720* |
probably null |
Het |
| Ofcc1 |
T |
C |
13: 40,157,538 (GRCm39) |
I887V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,056 (GRCm39) |
I174V |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,399,391 (GRCm39) |
|
probably null |
Het |
| P3h1 |
T |
A |
4: 119,104,358 (GRCm39) |
D626E |
probably benign |
Het |
| Pde2a |
A |
T |
7: 101,153,857 (GRCm39) |
D485V |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,577,539 (GRCm39) |
R1129* |
probably null |
Het |
| Pkn1 |
T |
C |
8: 84,420,596 (GRCm39) |
E10G |
possibly damaging |
Het |
| Psg29 |
A |
G |
7: 16,944,546 (GRCm39) |
D352G |
probably damaging |
Het |
| Rgs14 |
T |
C |
13: 55,527,417 (GRCm39) |
S218P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,048,379 (GRCm39) |
T380A |
probably benign |
Het |
| Septin12 |
T |
C |
16: 4,806,226 (GRCm39) |
T312A |
unknown |
Het |
| Skint5 |
A |
T |
4: 113,428,791 (GRCm39) |
V1075E |
unknown |
Het |
| Ston2 |
A |
G |
12: 91,614,009 (GRCm39) |
S800P |
probably damaging |
Het |
| Tmem106b |
A |
G |
6: 13,081,564 (GRCm39) |
N157S |
probably damaging |
Het |
| Tmem132b |
G |
A |
5: 125,699,737 (GRCm39) |
G133S |
probably damaging |
Het |
| Tmie |
A |
T |
9: 110,699,749 (GRCm39) |
M55K |
possibly damaging |
Het |
| Trpc6 |
A |
T |
9: 8,653,017 (GRCm39) |
R608* |
probably null |
Het |
| Unc93a2 |
G |
A |
17: 7,644,021 (GRCm39) |
T96I |
probably damaging |
Het |
| Usp35 |
A |
G |
7: 96,960,754 (GRCm39) |
S891P |
probably damaging |
Het |
| Vmn1r178 |
A |
G |
7: 23,593,035 (GRCm39) |
T28A |
probably damaging |
Het |
| Wnk1 |
T |
A |
6: 119,926,240 (GRCm39) |
M1324L |
probably benign |
Het |
| Wrnip1 |
C |
A |
13: 32,986,616 (GRCm39) |
S132R |
possibly damaging |
Het |
| Wsb1 |
T |
C |
11: 79,141,814 (GRCm39) |
K68E |
probably benign |
Het |
| Zfp433 |
A |
T |
10: 81,556,040 (GRCm39) |
K181* |
probably null |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACACCTCTCATCCAGCAGAGG -3'
(R):5'- AAAATCCACTGTGGGGCCAG -3'
Sequencing Primer
(F):5'- CATGGGGCCTGAAGGGGATC -3'
(R):5'- GAGTAGAGAATCAGGCCTCACTGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation