Incidental Mutation 'R7817:Pde7b'
| ID |
601597 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde7b
|
| Ensembl Gene |
ENSMUSG00000019990 |
| Gene Name |
phosphodiesterase 7B |
| Synonyms |
|
| MMRRC Submission |
045871-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7817 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
20273750-20600824 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 20319051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 90
(R90S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020165]
[ENSMUST00000164195]
[ENSMUST00000169016]
[ENSMUST00000169404]
[ENSMUST00000170265]
|
| AlphaFold |
Q9QXQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020165
AA Change: R77S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990
AA Change: R77S
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
170 |
337 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164195
AA Change: R129S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126913
Gene: ENSMUSG00000019990
AA Change: R129S
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
222 |
389 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169016
|
| SMART Domains |
Protein: ENSMUSP00000130596
Gene: ENSMUSG00000019990
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169404
AA Change: R129S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132378
Gene: ENSMUSG00000019990
AA Change: R129S
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
222 |
389 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170265
AA Change: R90S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990
AA Change: R90S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
HDc
|
183 |
350 |
9.04e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.1157 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (45/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
T |
C |
7: 66,559,224 (GRCm39) |
V338A |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bivm |
G |
T |
1: 44,165,561 (GRCm39) |
A4S |
probably benign |
Het |
| Cacng3 |
G |
A |
7: 122,367,822 (GRCm39) |
R234Q |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cftr |
A |
G |
6: 18,267,967 (GRCm39) |
D642G |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,615,949 (GRCm39) |
V443A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,721,356 (GRCm39) |
R1425H |
probably damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,442,064 (GRCm39) |
T1588A |
probably benign |
Het |
| Gabra4 |
A |
G |
5: 71,798,206 (GRCm39) |
M207T |
probably damaging |
Het |
| Galnt3 |
A |
G |
2: 65,926,243 (GRCm39) |
Y322H |
probably damaging |
Het |
| Glud1 |
A |
T |
14: 34,051,244 (GRCm39) |
|
probably null |
Het |
| Gm47189 |
A |
G |
14: 41,492,011 (GRCm39) |
Y89H |
probably damaging |
Het |
| Klhl1 |
A |
T |
14: 96,374,186 (GRCm39) |
M620K |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Mocs2 |
A |
G |
13: 114,957,382 (GRCm39) |
E62G |
probably damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Nek10 |
C |
T |
14: 15,001,017 (GRCm38) |
P1066S |
probably benign |
Het |
| Nfxl1 |
T |
C |
5: 72,671,632 (GRCm39) |
K876E |
possibly damaging |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,279 (GRCm39) |
F182I |
probably damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,783,327 (GRCm39) |
G60S |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,014,443 (GRCm39) |
Y666H |
probably damaging |
Het |
| Or9m1b |
T |
C |
2: 87,836,355 (GRCm39) |
I247V |
probably benign |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,962 (GRCm39) |
E764G |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,982 (GRCm39) |
D649E |
probably benign |
Het |
| Pik3r5 |
T |
C |
11: 68,384,483 (GRCm39) |
V625A |
probably damaging |
Het |
| Prdm9 |
G |
A |
17: 15,779,311 (GRCm39) |
R113W |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,216,572 (GRCm39) |
V89A |
not run |
Het |
| Rad1 |
T |
C |
15: 10,493,404 (GRCm39) |
V277A |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,435,983 (GRCm39) |
L894Q |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,965,460 (GRCm39) |
C10S |
probably damaging |
Het |
| Ryk |
C |
T |
9: 102,768,432 (GRCm39) |
Q361* |
probably null |
Het |
| Serpina3b |
A |
G |
12: 104,099,223 (GRCm39) |
N246S |
probably benign |
Het |
| Srr |
A |
G |
11: 74,799,524 (GRCm39) |
V317A |
possibly damaging |
Het |
| Timd2 |
A |
T |
11: 46,561,781 (GRCm39) |
C288S |
probably benign |
Het |
| Tomm70a |
C |
T |
16: 56,965,136 (GRCm39) |
A440V |
probably damaging |
Het |
| Trim62 |
T |
C |
4: 128,794,478 (GRCm39) |
V215A |
probably benign |
Het |
| Trio |
C |
G |
15: 27,749,952 (GRCm39) |
V2250L |
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,980,076 (GRCm39) |
A2434V |
probably null |
Het |
| Unc13d |
A |
T |
11: 115,967,109 (GRCm39) |
V91D |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,487 (GRCm39) |
I182F |
possibly damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,066,823 (GRCm39) |
V4D |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,595,815 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,829,741 (GRCm39) |
I755V |
not run |
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 |
|
R5349:Pde7b
|
UTSW |
10 |
20,494,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TGAGCACTTTAAGCACGGGG -3'
(R):5'- GGCCATATTCAACTTGATTTAGCC -3'
Sequencing Primer
(F):5'- GCATGGAGCTCAGTGACATACTTAC -3'
(R):5'- CAACTTGATTTAGCCTTTAAAGTGTC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation