Incidental Mutation 'IGL03121:Pde6h'
| ID |
409971 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde6h
|
| Ensembl Gene |
ENSMUSG00000064330 |
| Gene Name |
phosphodiesterase 6H, cGMP-specific, cone, gamma |
| Synonyms |
PDEgamma, A930033D18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL03121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
136929216-136940483 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136936280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 8
(S8G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000137768]
[ENSMUST00000204382]
[ENSMUST00000204627]
|
| AlphaFold |
P61249 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000057650
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000137768
AA Change: S8G
|
| SMART Domains |
Protein: ENSMUSP00000119246
Gene: ENSMUSG00000064330
AA Change: S8G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE6_gamma
|
2 |
83 |
4.7e-52 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204382
AA Change: S8G
|
| SMART Domains |
Protein: ENSMUSP00000145119
Gene: ENSMUSG00000064330
AA Change: S8G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE6_gamma
|
2 |
56 |
1.4e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204627
AA Change: S8G
|
| SMART Domains |
Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330
AA Change: S8G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE6_gamma
|
2 |
74 |
1.5e-41 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous mutation of this gene does not affect the retina or photoreceptor function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B09Rik |
A |
G |
9: 14,672,946 (GRCm39) |
S4P |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,618,265 (GRCm39) |
N186S |
probably benign |
Het |
| Afg2a |
T |
C |
3: 37,518,800 (GRCm39) |
I778T |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,353,796 (GRCm39) |
K261R |
probably benign |
Het |
| Alas1 |
G |
A |
9: 106,124,113 (GRCm39) |
P15L |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,398,113 (GRCm39) |
V1285M |
probably damaging |
Het |
| Brd8 |
A |
T |
18: 34,739,740 (GRCm39) |
F678I |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,143,446 (GRCm39) |
M378K |
probably benign |
Het |
| Dpy19l4 |
C |
A |
4: 11,303,334 (GRCm39) |
V196F |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,256,884 (GRCm39) |
|
probably benign |
Het |
| Hsd17b1 |
T |
A |
11: 100,970,870 (GRCm39) |
Y275* |
probably null |
Het |
| Kdm3b |
A |
G |
18: 34,928,762 (GRCm39) |
E171G |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,748,076 (GRCm39) |
|
probably benign |
Het |
| Mlkl |
G |
A |
8: 112,041,612 (GRCm39) |
R443W |
probably damaging |
Het |
| Mov10 |
A |
T |
3: 104,708,318 (GRCm39) |
V477E |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,550,933 (GRCm39) |
S753P |
probably damaging |
Het |
| Ncapd2 |
A |
C |
6: 125,150,575 (GRCm39) |
M842R |
probably benign |
Het |
| Nkd2 |
C |
A |
13: 73,969,498 (GRCm39) |
A311S |
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,314,608 (GRCm39) |
|
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,953 (GRCm39) |
Y193H |
probably benign |
Het |
| Or6c68 |
A |
G |
10: 129,158,037 (GRCm39) |
I182V |
probably benign |
Het |
| Pik3c2b |
A |
G |
1: 133,007,483 (GRCm39) |
K616E |
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,082,845 (GRCm39) |
R54S |
probably benign |
Het |
| Pramel38 |
T |
C |
5: 94,368,912 (GRCm39) |
V469A |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,993,875 (GRCm39) |
D184G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,574,284 (GRCm39) |
I756F |
unknown |
Het |
| Slc24a2 |
T |
C |
4: 87,145,143 (GRCm39) |
T304A |
probably benign |
Het |
| Stk3 |
A |
T |
15: 35,099,572 (GRCm39) |
|
probably benign |
Het |
| Trim69 |
A |
G |
2: 121,998,128 (GRCm39) |
I33M |
probably benign |
Het |
| Ube2q2 |
A |
T |
9: 55,102,323 (GRCm39) |
|
probably benign |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,394 (GRCm39) |
N158K |
probably benign |
Het |
| Wipi2 |
G |
A |
5: 142,648,857 (GRCm39) |
E252K |
probably benign |
Het |
|
| Other mutations in Pde6h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02488:Pde6h
|
APN |
6 |
136,940,264 (GRCm39) |
splice site |
probably null |
|
|
PIT4151001:Pde6h
|
UTSW |
6 |
136,938,185 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1065:Pde6h
|
UTSW |
6 |
136,936,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2001:Pde6h
|
UTSW |
6 |
136,940,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2852:Pde6h
|
UTSW |
6 |
136,940,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4052:Pde6h
|
UTSW |
6 |
136,936,266 (GRCm39) |
missense |
unknown |
|
|
R4964:Pde6h
|
UTSW |
6 |
136,938,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4966:Pde6h
|
UTSW |
6 |
136,938,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7335:Pde6h
|
UTSW |
6 |
136,940,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7629:Pde6h
|
UTSW |
6 |
136,936,317 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9351:Pde6h
|
UTSW |
6 |
136,936,332 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9444:Pde6h
|
UTSW |
6 |
136,936,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9445:Pde6h
|
UTSW |
6 |
136,936,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Pde6h
|
UTSW |
6 |
136,936,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9771:Pde6h
|
UTSW |
6 |
136,936,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation