Incidental Mutation 'R5349:Pde7b'
| ID |
422773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde7b
|
| Ensembl Gene |
ENSMUSG00000019990 |
| Gene Name |
phosphodiesterase 7B |
| Synonyms |
|
| MMRRC Submission |
042928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5349 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
20273750-20600824 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20494932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 9
(C9Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020165]
[ENSMUST00000170265]
|
| AlphaFold |
Q9QXQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020165
AA Change: C9Y
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990
AA Change: C9Y
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
170 |
337 |
9.04e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166147
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170265
AA Change: C9Y
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990
AA Change: C9Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
HDc
|
183 |
350 |
9.04e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170683
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,917,986 (GRCm39) |
E327G |
possibly damaging |
Het |
| Cd209d |
T |
G |
8: 3,928,320 (GRCm39) |
M22L |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,380,956 (GRCm39) |
V75A |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,462 (GRCm39) |
E642G |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,125 (GRCm39) |
V571A |
unknown |
Het |
| Dip2c |
C |
A |
13: 9,672,689 (GRCm39) |
H1032N |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,694 (GRCm39) |
D385V |
probably damaging |
Het |
| Fbxl3 |
T |
C |
14: 103,333,012 (GRCm39) |
|
probably benign |
Het |
| Glb1 |
T |
C |
9: 114,263,529 (GRCm39) |
|
probably null |
Het |
| Gm8220 |
T |
C |
14: 44,525,634 (GRCm39) |
I101T |
probably benign |
Het |
| Grin2b |
A |
G |
6: 136,021,281 (GRCm39) |
C7R |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,384,409 (GRCm39) |
I516T |
probably damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,042,641 (GRCm39) |
D89G |
possibly damaging |
Het |
| Ogfod1 |
T |
G |
8: 94,781,876 (GRCm39) |
|
probably benign |
Het |
| Or4k2 |
G |
T |
14: 50,424,230 (GRCm39) |
S148* |
probably null |
Het |
| Pard3 |
G |
T |
8: 128,142,224 (GRCm39) |
D930Y |
probably damaging |
Het |
| Pilra |
T |
A |
5: 137,829,488 (GRCm39) |
D192V |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,301,605 (GRCm39) |
S176P |
probably benign |
Het |
| Slc4a2 |
T |
C |
5: 24,640,633 (GRCm39) |
V685A |
possibly damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,740,951 (GRCm39) |
F44L |
possibly damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,337 (GRCm39) |
F108L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,638,450 (GRCm39) |
I13943M |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,710,856 (GRCm39) |
D2577G |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,040,929 (GRCm39) |
F675I |
probably damaging |
Het |
|
| Other mutations in Pde7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Pde7b
|
APN |
10 |
20,494,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01312:Pde7b
|
APN |
10 |
20,311,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01728:Pde7b
|
APN |
10 |
20,310,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01868:Pde7b
|
APN |
10 |
20,282,911 (GRCm39) |
nonsense |
probably null |
|
|
PIT4431001:Pde7b
|
UTSW |
10 |
20,276,291 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0241:Pde7b
|
UTSW |
10 |
20,311,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Pde7b
|
UTSW |
10 |
20,311,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Pde7b
|
UTSW |
10 |
20,314,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Pde7b
|
UTSW |
10 |
20,294,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Pde7b
|
UTSW |
10 |
20,423,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Pde7b
|
UTSW |
10 |
20,355,432 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1547:Pde7b
|
UTSW |
10 |
20,310,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1571:Pde7b
|
UTSW |
10 |
20,288,836 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1611:Pde7b
|
UTSW |
10 |
20,310,236 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1722:Pde7b
|
UTSW |
10 |
20,311,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Pde7b
|
UTSW |
10 |
20,276,165 (GRCm39) |
makesense |
probably null |
|
|
R4622:Pde7b
|
UTSW |
10 |
20,294,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Pde7b
|
UTSW |
10 |
20,314,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Pde7b
|
UTSW |
10 |
20,423,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4823:Pde7b
|
UTSW |
10 |
20,314,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Pde7b
|
UTSW |
10 |
20,423,823 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4910:Pde7b
|
UTSW |
10 |
20,600,480 (GRCm39) |
unclassified |
probably benign |
|
|
R4923:Pde7b
|
UTSW |
10 |
20,288,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6258:Pde7b
|
UTSW |
10 |
20,316,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6645:Pde7b
|
UTSW |
10 |
20,486,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7000:Pde7b
|
UTSW |
10 |
20,319,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Pde7b
|
UTSW |
10 |
20,288,761 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7717:Pde7b
|
UTSW |
10 |
20,282,937 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7817:Pde7b
|
UTSW |
10 |
20,319,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Pde7b
|
UTSW |
10 |
20,423,639 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8837:Pde7b
|
UTSW |
10 |
20,314,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTGACAAGCCTCTTTATAACGG -3'
(R):5'- CTCATGGGAGCACAGAGTTG -3'
Sequencing Primer
(F):5'- GCCTCTTTATAACGGAACAAGAGGC -3'
(R):5'- CTCAAAGGTTTTTCTCCAGGGAAATC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation