Incidental Mutation 'R8310:Psd2'
ID |
641355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psd2
|
Ensembl Gene |
ENSMUSG00000024347 |
Gene Name |
pleckstrin and Sec7 domain containing 2 |
Synonyms |
EFA6C, 6330404E20Rik |
MMRRC Submission |
067795-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8310 (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 T
at 36112766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 154
(S154C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115716]
[ENSMUST00000175734]
[ENSMUST00000176472]
[ENSMUST00000176873]
[ENSMUST00000177432]
|
AlphaFold |
Q6P1I6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115716
AA Change: S154C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111381 Gene: ENSMUSG00000024347 AA Change: S154C
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 damaging
Transcript: ENSMUST00000175734
AA Change: S154C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135795 Gene: ENSMUSG00000024347 AA Change: S154C
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: S154C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135285 Gene: ENSMUSG00000024347 AA Change: S154C
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: S154C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135616 Gene: ENSMUSG00000024347 AA Change: S154C
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: S154C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135431 Gene: ENSMUSG00000024347 AA Change: S154C
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 |
0.1562 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830005F24Rik |
T |
G |
13: 48,667,727 (GRCm39) |
W10G |
unknown |
Het |
Abca13 |
A |
T |
11: 9,328,269 (GRCm39) |
K3447N |
possibly damaging |
Het |
Agtr1a |
T |
G |
13: 30,565,745 (GRCm39) |
V270G |
probably benign |
Het |
Apob |
A |
T |
12: 8,059,033 (GRCm39) |
H2505L |
probably benign |
Het |
Babam1 |
T |
A |
8: 71,850,629 (GRCm39) |
V86D |
possibly damaging |
Het |
Cacna1s |
C |
A |
1: 136,015,075 (GRCm39) |
N654K |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,506,469 (GRCm39) |
|
probably benign |
Het |
Ccdc8 |
T |
C |
7: 16,729,326 (GRCm39) |
S272P |
probably damaging |
Het |
Cnksr1 |
T |
C |
4: 133,956,730 (GRCm39) |
E510G |
probably damaging |
Het |
Cnot6l |
A |
T |
5: 96,239,535 (GRCm39) |
D255E |
probably benign |
Het |
Ddx1 |
A |
C |
12: 13,274,280 (GRCm39) |
|
probably benign |
Het |
Dyrk1a |
A |
G |
16: 94,492,650 (GRCm39) |
T628A |
probably benign |
Het |
Elavl1 |
A |
T |
8: 4,351,786 (GRCm39) |
I110N |
probably damaging |
Het |
Emilin2 |
C |
G |
17: 71,562,141 (GRCm39) |
D954H |
probably damaging |
Het |
Erich3 |
C |
T |
3: 154,410,586 (GRCm39) |
T147I |
|
Het |
Galnt1 |
A |
T |
18: 24,404,686 (GRCm39) |
H341L |
probably damaging |
Het |
Gm14325 |
A |
T |
2: 177,473,592 (GRCm39) |
C497S |
probably damaging |
Het |
Gm4922 |
A |
T |
10: 18,659,536 (GRCm39) |
N395K |
probably benign |
Het |
Hsd17b2 |
G |
A |
8: 118,469,155 (GRCm39) |
C189Y |
probably damaging |
Het |
Kcnn1 |
A |
T |
8: 71,305,449 (GRCm39) |
S254T |
possibly damaging |
Het |
Lce1l |
G |
C |
3: 92,757,766 (GRCm39) |
P31A |
unknown |
Het |
Lrpprc |
A |
G |
17: 85,080,524 (GRCm39) |
Y199H |
probably damaging |
Het |
Lrrtm3 |
A |
T |
10: 63,925,487 (GRCm39) |
|
probably null |
Het |
Mon2 |
G |
T |
10: 122,838,688 (GRCm39) |
A1598E |
probably damaging |
Het |
Myh3 |
A |
T |
11: 66,986,833 (GRCm39) |
|
probably null |
Het |
Naa11 |
A |
T |
5: 97,539,737 (GRCm39) |
D140E |
probably damaging |
Het |
Nadk2 |
G |
A |
15: 9,103,420 (GRCm39) |
R350Q |
probably benign |
Het |
Npc1 |
T |
C |
18: 12,326,455 (GRCm39) |
I1162V |
probably damaging |
Het |
Or4e1 |
A |
G |
14: 52,701,280 (GRCm39) |
M62T |
probably damaging |
Het |
Or5v1 |
T |
C |
17: 37,810,148 (GRCm39) |
I202T |
probably benign |
Het |
Otogl |
A |
T |
10: 107,613,461 (GRCm39) |
N2001K |
possibly damaging |
Het |
Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,171,912 (GRCm39) |
|
probably null |
Het |
Ppp2r5c |
A |
T |
12: 110,512,259 (GRCm39) |
T185S |
possibly damaging |
Het |
Rnasel |
G |
A |
1: 153,630,734 (GRCm39) |
V417M |
possibly damaging |
Het |
Slc35g2 |
A |
G |
9: 100,434,841 (GRCm39) |
S277P |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,070,158 (GRCm39) |
W140R |
possibly damaging |
Het |
Slc6a12 |
A |
G |
6: 121,340,250 (GRCm39) |
K512E |
probably damaging |
Het |
Sox7 |
C |
T |
14: 64,181,275 (GRCm39) |
S24L |
probably benign |
Het |
Specc1 |
A |
G |
11: 62,023,171 (GRCm39) |
K659E |
probably damaging |
Het |
Stx18 |
T |
A |
5: 38,285,383 (GRCm39) |
|
probably null |
Het |
Svs5 |
C |
A |
2: 164,080,091 (GRCm39) |
G25W |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,297,829 (GRCm39) |
M1156T |
probably benign |
Het |
Tars2 |
T |
A |
3: 95,658,271 (GRCm39) |
I185F |
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,396,612 (GRCm39) |
I839V |
|
Het |
Vmn1r115 |
T |
C |
7: 20,578,819 (GRCm39) |
N31S |
probably damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,224,024 (GRCm39) |
D183G |
probably damaging |
Het |
Wdr7 |
C |
T |
18: 63,868,756 (GRCm39) |
T275I |
probably damaging |
Het |
Ybx2 |
A |
G |
11: 69,831,194 (GRCm39) |
E263G |
probably damaging |
Het |
Zbtb6 |
G |
T |
2: 37,319,896 (GRCm39) |
Q11K |
probably benign |
Het |
Zfp329 |
A |
T |
7: 12,544,116 (GRCm39) |
C469* |
probably null |
Het |
Zfp868 |
A |
T |
8: 70,066,446 (GRCm39) |
L40H |
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 |
|
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 |
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'- ATGCGTGTTCAGCTCCTAGC -3'
(R):5'- AAGACATTCTCTGAGCGGC -3'
Sequencing Primer
(F):5'- GCTCCTAGCTAGAGACTGGTG -3'
(R):5'- TAGAGATGGACCGCCTCAG -3'
|
Posted On |
2020-07-28 |