Incidental Mutation 'R2173:Pde6a'
| ID |
237658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde6a
|
| Ensembl Gene |
ENSMUSG00000024575 |
| Gene Name |
phosphodiesterase 6A, cGMP-specific, rod, alpha |
| Synonyms |
Pdea |
| MMRRC Submission |
040175-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61353387-61422995 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61387453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 448
(D448G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025468]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025468
AA Change: D448G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025468
Gene: ENSMUSG00000024575
AA Change: D448G
| Domain | Start | End | E-Value | Type |
|---|
|
GAF
|
73 |
232 |
1.36e-21 |
SMART |
|
GAF
|
254 |
441 |
3.21e-23 |
SMART |
|
low complexity region
|
478 |
495 |
N/A |
INTRINSIC |
|
Blast:HDc
|
496 |
540 |
3e-11 |
BLAST |
|
HDc
|
556 |
734 |
6.95e-8 |
SMART |
|
Blast:HDc
|
759 |
786 |
1e-8 |
BLAST |
|
low complexity region
|
817 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
853 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000076842
|
| SMART Domains |
Protein: ENSMUSP00000100598
Gene: ENSMUSG00000057244
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S5
|
29 |
95 |
3.9e-30 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
112 |
185 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170335
|
| SMART Domains |
Protein: ENSMUSP00000133092
Gene: ENSMUSG00000091957
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
102 |
166 |
5.7e-34 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
185 |
256 |
2.4e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.3253 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
97% (66/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have retinal degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
T |
A |
3: 127,477,239 (GRCm39) |
H273L |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,726,648 (GRCm39) |
Y111C |
probably damaging |
Het |
| Anapc2 |
T |
G |
2: 25,163,288 (GRCm39) |
V175G |
probably benign |
Het |
| Arhgap30 |
T |
C |
1: 171,235,335 (GRCm39) |
S570P |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,686,069 (GRCm39) |
L215P |
probably benign |
Het |
| Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
| Ccdc65 |
A |
G |
15: 98,618,914 (GRCm39) |
N298D |
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,458,630 (GRCm39) |
N727Y |
probably benign |
Het |
| Clcn7 |
A |
G |
17: 25,364,583 (GRCm39) |
H63R |
probably benign |
Het |
| Corin |
A |
T |
5: 72,661,422 (GRCm39) |
C24S |
probably benign |
Het |
| Cyp1a2 |
A |
G |
9: 57,584,798 (GRCm39) |
W419R |
probably damaging |
Het |
| Dlgap4 |
C |
A |
2: 156,604,732 (GRCm39) |
A256D |
probably damaging |
Het |
| Eif4enif1 |
A |
G |
11: 3,192,367 (GRCm39) |
|
probably null |
Het |
| Eri2 |
A |
G |
7: 119,385,766 (GRCm39) |
V245A |
possibly damaging |
Het |
| Erich6b |
T |
C |
14: 75,896,332 (GRCm39) |
F73L |
probably benign |
Het |
| Fam110a |
A |
G |
2: 151,812,429 (GRCm39) |
C114R |
probably damaging |
Het |
| Fam149a |
T |
C |
8: 45,806,991 (GRCm39) |
D288G |
probably damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,226,656 (GRCm39) |
Y596* |
probably null |
Het |
| Fsd1 |
A |
G |
17: 56,298,223 (GRCm39) |
T183A |
possibly damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,159 (GRCm39) |
Y305N |
probably damaging |
Het |
| Ganab |
A |
T |
19: 8,879,624 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
G |
T |
14: 101,967,012 (GRCm39) |
|
probably benign |
Het |
| Gp9 |
A |
G |
6: 87,756,035 (GRCm39) |
T17A |
probably benign |
Het |
| Gxylt2 |
T |
C |
6: 100,775,115 (GRCm39) |
Y345H |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,835,699 (GRCm39) |
H3269R |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,241,290 (GRCm39) |
S374T |
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,664,674 (GRCm39) |
V376A |
probably damaging |
Het |
| Hyi |
T |
C |
4: 118,219,381 (GRCm39) |
|
probably benign |
Het |
| Impdh2 |
G |
A |
9: 108,442,593 (GRCm39) |
|
probably null |
Het |
| Kremen2 |
A |
C |
17: 23,961,770 (GRCm39) |
W246G |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,818 (GRCm39) |
V259A |
probably damaging |
Het |
| L3mbtl4 |
A |
T |
17: 68,894,188 (GRCm39) |
H398L |
probably damaging |
Het |
| Lama5 |
C |
A |
2: 179,838,035 (GRCm39) |
V894L |
probably benign |
Het |
| Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,855,076 (GRCm39) |
|
probably benign |
Het |
| Or10g6 |
T |
G |
9: 39,934,550 (GRCm39) |
I287S |
probably damaging |
Het |
| Or2y15 |
G |
T |
11: 49,350,967 (GRCm39) |
V154L |
probably benign |
Het |
| Or5k14 |
A |
G |
16: 58,692,982 (GRCm39) |
F177S |
probably damaging |
Het |
| Or8b3b |
T |
C |
9: 38,584,240 (GRCm39) |
I180V |
probably benign |
Het |
| Or9r7 |
G |
A |
10: 129,962,372 (GRCm39) |
P185S |
probably benign |
Het |
| Otof |
C |
T |
5: 30,543,718 (GRCm39) |
R582H |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,395,093 (GRCm39) |
S543P |
probably damaging |
Het |
| Phgdh |
A |
G |
3: 98,222,427 (GRCm39) |
V388A |
probably benign |
Het |
| Plin3 |
G |
T |
17: 56,586,891 (GRCm39) |
D385E |
possibly damaging |
Het |
| Polg |
G |
T |
7: 79,105,341 (GRCm39) |
D734E |
probably damaging |
Het |
| Pomt1 |
T |
C |
2: 32,140,912 (GRCm39) |
Y515H |
probably damaging |
Het |
| Prr35 |
A |
C |
17: 26,167,461 (GRCm39) |
H25Q |
probably damaging |
Het |
| Pwwp2a |
G |
A |
11: 43,573,313 (GRCm39) |
A132T |
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,729,390 (GRCm39) |
F419L |
possibly damaging |
Het |
| Rfx5 |
A |
G |
3: 94,864,027 (GRCm39) |
|
probably null |
Het |
| Rnf135 |
G |
A |
11: 80,080,066 (GRCm39) |
S119N |
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,433,862 (GRCm39) |
D51E |
probably benign |
Het |
| Smox |
A |
T |
2: 131,353,944 (GRCm39) |
E5D |
possibly damaging |
Het |
| Srpk2 |
T |
C |
5: 23,723,613 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,147,763 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,738,893 (GRCm39) |
S853P |
possibly damaging |
Het |
| Tmem131l |
A |
G |
3: 83,833,452 (GRCm39) |
F804L |
probably damaging |
Het |
| Ttll8 |
A |
G |
15: 88,798,800 (GRCm39) |
L645P |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,727,743 (GRCm39) |
H35Q |
probably benign |
Het |
| Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,290 (GRCm39) |
H287Q |
probably benign |
Het |
| Vps26a |
A |
T |
10: 62,304,171 (GRCm39) |
I150N |
probably damaging |
Het |
| Zfp605 |
G |
A |
5: 110,275,323 (GRCm39) |
R147H |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,631,596 (GRCm39) |
M1333T |
probably damaging |
Het |
|
| Other mutations in Pde6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Pde6a
|
APN |
18 |
61,390,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00896:Pde6a
|
APN |
18 |
61,353,864 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01595:Pde6a
|
APN |
18 |
61,414,599 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02971:Pde6a
|
APN |
18 |
61,397,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
caffeinated
|
UTSW |
18 |
61,353,678 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R0219:Pde6a
|
UTSW |
18 |
61,419,006 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0968:Pde6a
|
UTSW |
18 |
61,386,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1304:Pde6a
|
UTSW |
18 |
61,391,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1498:Pde6a
|
UTSW |
18 |
61,365,932 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1542:Pde6a
|
UTSW |
18 |
61,390,116 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1734:Pde6a
|
UTSW |
18 |
61,419,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Pde6a
|
UTSW |
18 |
61,390,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Pde6a
|
UTSW |
18 |
61,395,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Pde6a
|
UTSW |
18 |
61,395,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3617:Pde6a
|
UTSW |
18 |
61,364,575 (GRCm39) |
splice site |
probably benign |
|
|
R4620:Pde6a
|
UTSW |
18 |
61,395,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4727:Pde6a
|
UTSW |
18 |
61,364,561 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4863:Pde6a
|
UTSW |
18 |
61,378,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Pde6a
|
UTSW |
18 |
61,398,105 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4945:Pde6a
|
UTSW |
18 |
61,367,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4953:Pde6a
|
UTSW |
18 |
61,364,434 (GRCm39) |
nonsense |
probably null |
|
|
R5323:Pde6a
|
UTSW |
18 |
61,365,983 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5496:Pde6a
|
UTSW |
18 |
61,386,736 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5540:Pde6a
|
UTSW |
18 |
61,364,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6180:Pde6a
|
UTSW |
18 |
61,417,163 (GRCm39) |
splice site |
probably null |
|
|
R6366:Pde6a
|
UTSW |
18 |
61,398,142 (GRCm39) |
splice site |
probably null |
|
|
R6743:Pde6a
|
UTSW |
18 |
61,397,057 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7161:Pde6a
|
UTSW |
18 |
61,414,596 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7186:Pde6a
|
UTSW |
18 |
61,353,678 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
|
R7197:Pde6a
|
UTSW |
18 |
61,391,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7296:Pde6a
|
UTSW |
18 |
61,391,364 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7487:Pde6a
|
UTSW |
18 |
61,383,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7734:Pde6a
|
UTSW |
18 |
61,365,938 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7818:Pde6a
|
UTSW |
18 |
61,414,580 (GRCm39) |
splice site |
probably null |
|
|
R8104:Pde6a
|
UTSW |
18 |
61,364,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8135:Pde6a
|
UTSW |
18 |
61,418,996 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8213:Pde6a
|
UTSW |
18 |
61,353,768 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8266:Pde6a
|
UTSW |
18 |
61,391,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8429:Pde6a
|
UTSW |
18 |
61,365,916 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8472:Pde6a
|
UTSW |
18 |
61,354,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Pde6a
|
UTSW |
18 |
61,390,104 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8882:Pde6a
|
UTSW |
18 |
61,378,619 (GRCm39) |
missense |
|
|
|
R9002:Pde6a
|
UTSW |
18 |
61,419,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Pde6a
|
UTSW |
18 |
61,397,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9338:Pde6a
|
UTSW |
18 |
61,354,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Pde6a
|
UTSW |
18 |
61,390,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9446:Pde6a
|
UTSW |
18 |
61,419,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9458:Pde6a
|
UTSW |
18 |
61,387,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Pde6a
|
UTSW |
18 |
61,364,475 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0064:Pde6a
|
UTSW |
18 |
61,398,019 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCAAACCCACTTTATAGCTGAG -3'
(R):5'- GCCTGTCAGACCTCTGTACTAC -3'
Sequencing Primer
(F):5'- AGAACATTGAGGTCTCAGCAGTCTTG -3'
(R):5'- TCAGACCTCTGTACTACATGGGAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation