Incidental Mutation 'R6200:Psd2'
| ID |
503162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psd2
|
| Ensembl Gene |
ENSMUSG00000024347 |
| Gene Name |
pleckstrin and Sec7 domain containing 2 |
| Synonyms |
EFA6C, 6330404E20Rik |
| MMRRC Submission |
044340-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
36097883-36147768 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 36139776 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 null
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 |
noncoding transcript
Transcript: ENSMUST00000175720
|
| Predicted Effect |
probably null
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 null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
91% (32/35) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,977,834 (GRCm39) |
H2719R |
probably damaging |
Het |
| Atraid |
A |
G |
5: 31,210,210 (GRCm39) |
N127D |
probably damaging |
Het |
| Capzb |
T |
C |
4: 139,007,324 (GRCm39) |
V145A |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,939,124 (GRCm39) |
N666D |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,682,073 (GRCm39) |
R174S |
probably damaging |
Het |
| Cldn17 |
A |
C |
16: 88,303,459 (GRCm39) |
L90R |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Fancc |
A |
C |
13: 63,508,062 (GRCm39) |
L158V |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,730,927 (GRCm39) |
L60P |
probably benign |
Het |
| G6pd2 |
C |
T |
5: 61,967,214 (GRCm39) |
R330C |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,404,227 (GRCm39) |
N333I |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,062,130 (GRCm39) |
Y45H |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,950,045 (GRCm39) |
Y868C |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
| Luzp1 |
C |
A |
4: 136,268,577 (GRCm39) |
Q267K |
probably benign |
Het |
| Nkpd1 |
C |
A |
7: 19,258,528 (GRCm39) |
A769E |
possibly damaging |
Het |
| Or5p58 |
AACTCTGTCACT |
AACT |
7: 107,694,732 (GRCm39) |
|
probably null |
Het |
| Pabpc4l |
C |
A |
3: 46,401,138 (GRCm39) |
V169L |
probably damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,135 (GRCm39) |
N381D |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,263,374 (GRCm39) |
N372Y |
possibly damaging |
Het |
| Ppp1r21 |
C |
T |
17: 88,876,613 (GRCm39) |
T475M |
possibly damaging |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,392,610 (GRCm39) |
K100E |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,053,111 (GRCm39) |
H1096R |
probably damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
| Slc16a8 |
C |
T |
15: 79,137,137 (GRCm39) |
G91D |
probably damaging |
Het |
| Slc22a21 |
A |
T |
11: 53,848,864 (GRCm39) |
I296N |
probably damaging |
Het |
| Smad9 |
A |
G |
3: 54,696,607 (GRCm39) |
D224G |
probably benign |
Het |
| Tle2 |
G |
A |
10: 81,424,706 (GRCm39) |
V678M |
probably damaging |
Het |
| Tmc1 |
C |
T |
19: 20,766,954 (GRCm39) |
R749Q |
possibly damaging |
Het |
| Tmco3 |
T |
A |
8: 13,342,077 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
A |
G |
11: 87,652,529 (GRCm39) |
E101G |
possibly damaging |
Het |
| Zfp57 |
A |
T |
17: 37,321,303 (GRCm39) |
T386S |
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 |
|
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 |
|
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'- AGCATACCCCACTCAGGATG -3'
(R):5'- ACTCTGTGAGCCTAAAACATGGG -3'
Sequencing Primer
(F):5'- CTCAGGATGAGTACAGGCTTGAC -3'
(R):5'- CTGAAAGCCACCACTCTGG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation