Incidental Mutation 'R5839:Psd2'
| ID |
449831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd2
|
| Ensembl Gene |
ENSMUSG00000024347 |
| Gene Name |
pleckstrin and Sec7 domain containing 2 |
| Synonyms |
EFA6C, 6330404E20Rik |
| MMRRC Submission |
044059-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5839 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
36097883-36147768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 36140577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 617
(V617L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115716]
[ENSMUST00000175734]
[ENSMUST00000176472]
[ENSMUST00000176873]
[ENSMUST00000177432]
|
| AlphaFold |
Q6P1I6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115716
AA Change: V620L
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000111381
Gene: ENSMUSG00000024347
AA Change: V620L
| 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: V621L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135795
Gene: ENSMUSG00000024347
AA Change: V621L
| 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 damaging
Transcript: ENSMUST00000176873
AA Change: V621L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135616
Gene: ENSMUSG00000024347
AA Change: V621L
| 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: V617L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135431
Gene: ENSMUSG00000024347
AA Change: V617L
| 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 |
|
| Meta Mutation Damage Score |
0.7396 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
94% (62/66) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
A |
5: 8,186,861 (GRCm39) |
Y420F |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,588,031 (GRCm39) |
Y919H |
probably damaging |
Het |
| Afg2a |
A |
G |
3: 37,518,803 (GRCm39) |
D779G |
probably damaging |
Het |
| Ampd1 |
A |
T |
3: 102,992,744 (GRCm39) |
N162I |
possibly damaging |
Het |
| Arhgef15 |
G |
A |
11: 68,844,982 (GRCm39) |
A205V |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,890,658 (GRCm39) |
K846E |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,888,187 (GRCm39) |
T250I |
probably damaging |
Het |
| Btbd16 |
G |
A |
7: 130,417,538 (GRCm39) |
|
probably null |
Het |
| Ceacam16 |
T |
A |
7: 19,590,008 (GRCm39) |
K52* |
probably null |
Het |
| Cfap74 |
T |
C |
4: 155,507,207 (GRCm39) |
|
probably null |
Het |
| Cgn |
A |
C |
3: 94,681,703 (GRCm39) |
L464R |
probably damaging |
Het |
| Chpt1 |
T |
A |
10: 88,339,625 (GRCm39) |
H32L |
probably damaging |
Het |
| Clk1 |
G |
A |
1: 58,461,074 (GRCm39) |
T7I |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,822,592 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
C |
A |
9: 104,803,027 (GRCm39) |
R224S |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,267,623 (GRCm39) |
Y29C |
probably damaging |
Het |
| Ddx5 |
A |
G |
11: 106,673,032 (GRCm39) |
S498P |
probably damaging |
Het |
| Dgkg |
A |
G |
16: 22,385,244 (GRCm39) |
Y382H |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,871,418 (GRCm39) |
E339G |
possibly damaging |
Het |
| Focad |
T |
A |
4: 88,115,083 (GRCm39) |
|
probably benign |
Het |
| Gabbr1 |
G |
A |
17: 37,378,760 (GRCm39) |
G650D |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,725,386 (GRCm39) |
S108G |
probably benign |
Het |
| Igkv8-28 |
T |
A |
6: 70,121,145 (GRCm39) |
M1L |
probably benign |
Het |
| Iqca1l |
T |
C |
5: 24,757,024 (GRCm39) |
K218E |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,751,544 (GRCm39) |
Y284C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,275,117 (GRCm39) |
F6299S |
probably damaging |
Het |
| Magi3 |
G |
A |
3: 104,127,047 (GRCm39) |
T79M |
probably damaging |
Het |
| Mdh2 |
T |
A |
5: 135,812,146 (GRCm39) |
|
probably null |
Het |
| Mgam |
A |
C |
6: 40,716,998 (GRCm39) |
N108T |
possibly damaging |
Het |
| N4bp3 |
A |
T |
11: 51,536,909 (GRCm39) |
F55I |
probably benign |
Het |
| Nasp |
C |
T |
4: 116,459,288 (GRCm39) |
|
probably null |
Het |
| Ncapg |
T |
A |
5: 45,829,620 (GRCm39) |
H107Q |
probably damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,434,021 (GRCm39) |
K28R |
probably damaging |
Het |
| Opn1sw |
C |
T |
6: 29,379,829 (GRCm39) |
C135Y |
probably damaging |
Het |
| Pigo |
T |
C |
4: 43,022,104 (GRCm39) |
M346V |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,527,290 (GRCm39) |
D386E |
probably benign |
Het |
| Rab39 |
C |
T |
9: 53,617,387 (GRCm39) |
R10H |
probably damaging |
Het |
| Slc6a6 |
T |
A |
6: 91,700,298 (GRCm39) |
C9S |
probably damaging |
Het |
| Slc8a2 |
A |
T |
7: 15,868,412 (GRCm39) |
I215F |
probably damaging |
Het |
| Slitrk5 |
T |
C |
14: 111,917,030 (GRCm39) |
V218A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,701,857 (GRCm39) |
V1045E |
probably damaging |
Het |
| Smoc1 |
T |
C |
12: 81,214,359 (GRCm39) |
I247T |
probably damaging |
Het |
| Snapc4 |
G |
C |
2: 26,255,546 (GRCm39) |
Q993E |
probably benign |
Het |
| Spidr |
A |
T |
16: 15,855,366 (GRCm39) |
I383N |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,708,555 (GRCm39) |
V219A |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,013,779 (GRCm39) |
T96A |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,783 (GRCm39) |
E323G |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,284,272 (GRCm39) |
T938A |
possibly damaging |
Het |
| Tecta |
C |
T |
9: 42,242,319 (GRCm39) |
D2085N |
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,216,629 (GRCm39) |
E328V |
probably damaging |
Het |
| Tgfb1i1 |
A |
G |
7: 127,852,537 (GRCm39) |
*462W |
probably null |
Het |
| Tnip2 |
T |
C |
5: 34,653,976 (GRCm39) |
|
probably benign |
Het |
| Tpd52l2 |
G |
A |
2: 181,141,691 (GRCm39) |
V25I |
probably benign |
Het |
| Traj15 |
T |
A |
14: 54,441,926 (GRCm39) |
|
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,253,228 (GRCm39) |
I106F |
possibly damaging |
Het |
| Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,739,772 (GRCm39) |
H3589R |
probably benign |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,280 (GRCm39) |
I41N |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,315 (GRCm39) |
V368E |
unknown |
Het |
| Zeb1 |
A |
G |
18: 5,767,507 (GRCm39) |
M673V |
probably benign |
Het |
| Zfp799 |
T |
C |
17: 33,041,086 (GRCm39) |
D31G |
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 |
|
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'- AGTTCTGACCAGGCTCATTC -3'
(R):5'- AGAATAGCTCTCCTTCCCGG -3'
Sequencing Primer
(F):5'- AGGCTCATTCACCCACCTG -3'
(R):5'- GGTGTCCCTCAGCCCAGTAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation