Incidental Mutation 'R0573:Psd2'
| ID |
46558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd2
|
| Ensembl Gene |
ENSMUSG00000024347 |
| Gene Name |
pleckstrin and Sec7 domain containing 2 |
| Synonyms |
EFA6C, 6330404E20Rik |
| MMRRC Submission |
038763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0573 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
36097883-36147768 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 36113546 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 |
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,455,278 (GRCm39) |
K698N |
possibly damaging |
Het |
| Adcy8 |
A |
T |
15: 64,694,044 (GRCm39) |
V411D |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,475,036 (GRCm39) |
E1550V |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,011,406 (GRCm39) |
I306K |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,445,746 (GRCm39) |
|
probably benign |
Het |
| Basp1 |
G |
T |
15: 25,364,948 (GRCm39) |
D16E |
unknown |
Het |
| Cbll1 |
A |
T |
12: 31,540,539 (GRCm39) |
I123N |
probably damaging |
Het |
| Ccdc141 |
A |
T |
2: 76,869,837 (GRCm39) |
H889Q |
probably benign |
Het |
| Ccdc65 |
T |
C |
15: 98,618,930 (GRCm39) |
V303A |
probably benign |
Het |
| Ceacam20 |
T |
A |
7: 19,720,593 (GRCm39) |
M60K |
probably damaging |
Het |
| Chd9 |
T |
A |
8: 91,725,223 (GRCm39) |
V711D |
probably damaging |
Het |
| Clcn1 |
T |
A |
6: 42,289,979 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
A |
T |
4: 129,962,268 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
C |
A |
1: 82,694,084 (GRCm39) |
P1568Q |
possibly damaging |
Het |
| Colec12 |
C |
A |
18: 9,858,650 (GRCm39) |
P478T |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,407,985 (GRCm39) |
H1949R |
probably damaging |
Het |
| Dgka |
A |
G |
10: 128,572,876 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
A |
G |
2: 156,588,111 (GRCm39) |
I669V |
probably benign |
Het |
| Dsg1c |
T |
A |
18: 20,412,298 (GRCm39) |
D543E |
probably benign |
Het |
| Egflam |
A |
T |
15: 7,271,906 (GRCm39) |
C677* |
probably null |
Het |
| Eml5 |
A |
C |
12: 98,791,031 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
A |
2: 125,231,169 (GRCm39) |
R466C |
probably damaging |
Het |
| Fnbp1 |
C |
A |
2: 30,948,990 (GRCm39) |
D198Y |
probably damaging |
Het |
| Gfra3 |
T |
A |
18: 34,824,668 (GRCm39) |
M272L |
probably benign |
Het |
| Gm5422 |
T |
A |
10: 31,126,156 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr21 |
T |
A |
2: 37,407,556 (GRCm39) |
I34N |
probably damaging |
Het |
| Hspb2 |
G |
T |
9: 50,662,664 (GRCm39) |
T155K |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,224,457 (GRCm39) |
T24A |
probably benign |
Het |
| Mmadhc |
T |
A |
2: 50,182,847 (GRCm39) |
H43L |
possibly damaging |
Het |
| Morn1 |
T |
A |
4: 155,195,473 (GRCm39) |
D278E |
possibly damaging |
Het |
| Myoc |
T |
C |
1: 162,476,243 (GRCm39) |
Y316H |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,037,805 (GRCm39) |
D266G |
probably damaging |
Het |
| Nlrp4b |
A |
G |
7: 10,448,142 (GRCm39) |
N115S |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,056 (GRCm39) |
I260N |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,926,905 (GRCm39) |
R6190C |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,624 (GRCm39) |
V174A |
possibly damaging |
Het |
| Or5be3 |
A |
G |
2: 86,863,812 (GRCm39) |
F251S |
probably damaging |
Het |
| Orc4 |
C |
T |
2: 48,807,285 (GRCm39) |
M215I |
probably benign |
Het |
| Osbpl6 |
A |
T |
2: 76,420,735 (GRCm39) |
H770L |
probably damaging |
Het |
| Otogl |
A |
C |
10: 107,616,849 (GRCm39) |
N1809K |
probably benign |
Het |
| Pde3a |
G |
T |
6: 141,437,957 (GRCm39) |
V1009L |
probably damaging |
Het |
| Pign |
T |
C |
1: 105,580,902 (GRCm39) |
Y159C |
probably damaging |
Het |
| Pik3cg |
C |
A |
12: 32,247,196 (GRCm39) |
M842I |
probably damaging |
Het |
| Pnliprp1 |
C |
T |
19: 58,723,314 (GRCm39) |
T235I |
possibly damaging |
Het |
| Pramel17 |
A |
C |
4: 101,692,611 (GRCm39) |
V463G |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,480 (GRCm39) |
N239D |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,393,668 (GRCm39) |
D1251G |
probably damaging |
Het |
| Pwp2 |
G |
A |
10: 78,018,520 (GRCm39) |
S88L |
probably benign |
Het |
| Rassf4 |
C |
T |
6: 116,624,516 (GRCm39) |
|
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,380,684 (GRCm39) |
S884P |
probably damaging |
Het |
| Rgs20 |
C |
A |
1: 5,091,037 (GRCm39) |
R131L |
possibly damaging |
Het |
| Setd4 |
A |
G |
16: 93,386,834 (GRCm39) |
V288A |
probably benign |
Het |
| Stx3 |
G |
T |
19: 11,763,110 (GRCm39) |
T160K |
probably damaging |
Het |
| Tas2r102 |
T |
A |
6: 132,739,636 (GRCm39) |
S181R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 49,127,434 (GRCm39) |
|
probably benign |
Het |
| Tmem33 |
T |
C |
5: 67,421,603 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,259,306 (GRCm39) |
|
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,853,119 (GRCm39) |
I491T |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,058,653 (GRCm39) |
|
probably benign |
Het |
| Tuba4a |
T |
C |
1: 75,193,017 (GRCm39) |
D199G |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,953,321 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zp2 |
C |
T |
7: 119,734,693 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCATTTGCAGTGACACCAGCC -3'
(R):5'- TCACCTAGCTCCACTGGGTAGAAC -3'
Sequencing Primer
(F):5'- CTTAAGGATGGCCTGTCGGAC -3'
(R):5'- TTCGCCCAAGTAGCCCAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation