Incidental Mutation 'R7425:Cnga1'
ID |
575979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnga1
|
Ensembl Gene |
ENSMUSG00000067220 |
Gene Name |
cyclic nucleotide gated channel alpha 1 |
Synonyms |
Cncg |
MMRRC Submission |
045503-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
R7425 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
72761039-72800095 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 72766868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 190
(E190D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087213]
[ENSMUST00000169997]
[ENSMUST00000201463]
|
AlphaFold |
P29974 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087213
AA Change: E190D
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000084464 Gene: ENSMUSG00000067220 AA Change: E190D
Domain | Start | End | E-Value | Type |
coiled coil region
|
111 |
150 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
156 |
400 |
3e-33 |
PFAM |
cNMP
|
471 |
595 |
3.31e-25 |
SMART |
PDB:3SWF|C
|
615 |
684 |
6e-31 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169997
AA Change: E190D
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000132329 Gene: ENSMUSG00000067220 AA Change: E190D
Domain | Start | End | E-Value | Type |
coiled coil region
|
111 |
150 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
194 |
388 |
4.7e-19 |
PFAM |
cNMP
|
471 |
595 |
3.31e-25 |
SMART |
PDB:3SWF|C
|
615 |
684 |
6e-31 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201463
AA Change: E190D
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143881 Gene: ENSMUSG00000067220 AA Change: E190D
Domain | Start | End | E-Value | Type |
coiled coil region
|
111 |
150 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
156 |
400 |
3e-33 |
PFAM |
cNMP
|
471 |
595 |
3.31e-25 |
SMART |
PDB:3SWF|C
|
615 |
684 |
6e-31 |
PDB |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,771,456 (GRCm39) |
E215G |
probably benign |
Het |
Adam8 |
T |
A |
7: 139,572,394 (GRCm39) |
|
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,592,104 (GRCm39) |
S797G |
not run |
Het |
Anxa3 |
T |
A |
5: 96,982,680 (GRCm39) |
H259Q |
probably benign |
Het |
Ap3d1 |
T |
A |
10: 80,557,426 (GRCm39) |
Q302L |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,305,682 (GRCm39) |
V1294A |
probably benign |
Het |
Atp13a5 |
G |
A |
16: 29,116,278 (GRCm39) |
Q613* |
probably null |
Het |
Bltp1 |
T |
A |
3: 37,002,490 (GRCm39) |
H1478Q |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,037,543 (GRCm39) |
H2448L |
probably benign |
Het |
Bmpr2 |
T |
G |
1: 59,906,510 (GRCm39) |
N534K |
probably benign |
Het |
C1qbp |
T |
C |
11: 70,869,072 (GRCm39) |
|
probably null |
Het |
C1qbp |
G |
T |
11: 70,869,073 (GRCm39) |
|
probably null |
Het |
C1ql3 |
T |
G |
2: 13,015,229 (GRCm39) |
K144Q |
possibly damaging |
Het |
C3 |
T |
C |
17: 57,511,039 (GRCm39) |
M1656V |
possibly damaging |
Het |
Cand1 |
A |
T |
10: 119,052,148 (GRCm39) |
Y252N |
probably benign |
Het |
Capn13 |
T |
C |
17: 73,625,053 (GRCm39) |
I632M |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,557,757 (GRCm39) |
E776G |
probably damaging |
Het |
Ccnl1 |
A |
T |
3: 65,856,179 (GRCm39) |
V242D |
probably damaging |
Het |
Cd68 |
T |
C |
11: 69,555,938 (GRCm39) |
D200G |
probably benign |
Het |
Cela3a |
T |
C |
4: 137,132,899 (GRCm39) |
N118D |
probably benign |
Het |
Celsr2 |
A |
G |
3: 108,309,773 (GRCm39) |
C1609R |
probably damaging |
Het |
Cep85l |
G |
C |
10: 53,177,666 (GRCm39) |
Q458E |
probably damaging |
Het |
Cntnap3 |
G |
A |
13: 64,906,066 (GRCm39) |
R847C |
probably damaging |
Het |
Cntrob |
G |
A |
11: 69,205,560 (GRCm39) |
Q425* |
probably null |
Het |
Commd9 |
G |
A |
2: 101,730,245 (GRCm39) |
W128* |
probably null |
Het |
Csnk1a1 |
C |
T |
18: 61,718,330 (GRCm39) |
S352L |
unknown |
Het |
Dact2 |
A |
G |
17: 14,416,593 (GRCm39) |
S536P |
probably damaging |
Het |
Ddx25 |
A |
G |
9: 35,465,882 (GRCm39) |
I113T |
probably benign |
Het |
Dscam |
T |
A |
16: 96,430,598 (GRCm39) |
D1630V |
probably damaging |
Het |
Fndc7 |
A |
C |
3: 108,783,975 (GRCm39) |
F211L |
probably benign |
Het |
Fryl |
T |
C |
5: 73,262,091 (GRCm39) |
T559A |
probably damaging |
Het |
Hpx |
C |
A |
7: 105,241,068 (GRCm39) |
D402Y |
probably damaging |
Het |
Ints13 |
A |
G |
6: 146,476,198 (GRCm39) |
|
probably null |
Het |
Ipcef1 |
T |
C |
10: 6,906,066 (GRCm39) |
K76E |
probably damaging |
Het |
Kcnb2 |
A |
C |
1: 15,780,031 (GRCm39) |
Q301P |
probably damaging |
Het |
Lamp3 |
C |
T |
16: 19,518,362 (GRCm39) |
|
probably null |
Het |
Lmod2 |
A |
T |
6: 24,603,475 (GRCm39) |
H150L |
probably benign |
Het |
Lrch3 |
T |
C |
16: 32,826,077 (GRCm39) |
F718S |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,596,287 (GRCm39) |
V1082A |
probably benign |
Het |
Nbas |
G |
T |
12: 13,519,881 (GRCm39) |
V1598L |
probably damaging |
Het |
Nrxn3 |
C |
T |
12: 89,479,870 (GRCm39) |
R671* |
probably null |
Het |
Or4c110 |
A |
T |
2: 88,832,544 (GRCm39) |
F29L |
|
Het |
Or4c58 |
A |
G |
2: 89,674,789 (GRCm39) |
L176P |
probably damaging |
Het |
Or52e8 |
A |
T |
7: 104,624,268 (GRCm39) |
L312* |
probably null |
Het |
Or5a3 |
A |
C |
19: 12,400,204 (GRCm39) |
H177P |
probably damaging |
Het |
Or6d14 |
A |
T |
6: 116,533,398 (GRCm39) |
E4V |
possibly damaging |
Het |
Pcdhga6 |
T |
A |
18: 37,841,619 (GRCm39) |
N446K |
probably damaging |
Het |
Phlpp1 |
A |
T |
1: 106,320,303 (GRCm39) |
I1433F |
probably benign |
Het |
Pla2g6 |
G |
A |
15: 79,192,933 (GRCm39) |
R245C |
probably damaging |
Het |
Rgl3 |
G |
A |
9: 21,888,123 (GRCm39) |
Q464* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,720,530 (GRCm39) |
D2706G |
probably benign |
Het |
Sbf2 |
G |
A |
7: 109,974,984 (GRCm39) |
Q718* |
probably null |
Het |
Sdad1 |
T |
C |
5: 92,447,980 (GRCm39) |
T252A |
probably benign |
Het |
Sgk1 |
T |
C |
10: 21,870,009 (GRCm39) |
L16P |
probably damaging |
Het |
Slc38a8 |
A |
G |
8: 120,212,327 (GRCm39) |
S339P |
possibly damaging |
Het |
Slc44a4 |
T |
C |
17: 35,140,667 (GRCm39) |
S287P |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,375,760 (GRCm39) |
I111V |
probably damaging |
Het |
Synm |
A |
C |
7: 67,383,194 (GRCm39) |
S1489R |
probably damaging |
Het |
Tfb2m |
A |
G |
1: 179,365,269 (GRCm39) |
F232L |
probably benign |
Het |
Traf3 |
A |
T |
12: 111,227,095 (GRCm39) |
K328* |
probably null |
Het |
Trim38 |
C |
A |
13: 23,972,365 (GRCm39) |
Q229K |
probably benign |
Het |
Vcan |
A |
G |
13: 89,837,951 (GRCm39) |
I2531T |
probably damaging |
Het |
Virma |
T |
A |
4: 11,546,211 (GRCm39) |
I1683N |
possibly damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,551 (GRCm39) |
M1K |
probably null |
Het |
Vmn2r87 |
T |
C |
10: 130,314,761 (GRCm39) |
N275S |
probably damaging |
Het |
Vps13a |
T |
A |
19: 16,701,066 (GRCm39) |
H701L |
probably benign |
Het |
Vrk3 |
T |
A |
7: 44,420,348 (GRCm39) |
|
probably null |
Het |
Zfp993 |
T |
A |
4: 146,742,098 (GRCm39) |
S141T |
possibly damaging |
Het |
|
Other mutations in Cnga1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02332:Cnga1
|
APN |
5 |
72,761,829 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02345:Cnga1
|
APN |
5 |
72,762,615 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02354:Cnga1
|
APN |
5 |
72,774,061 (GRCm39) |
splice site |
probably null |
|
IGL02361:Cnga1
|
APN |
5 |
72,774,061 (GRCm39) |
splice site |
probably null |
|
IGL03025:Cnga1
|
APN |
5 |
72,762,756 (GRCm39) |
missense |
probably benign |
|
IGL03257:Cnga1
|
APN |
5 |
72,768,205 (GRCm39) |
missense |
probably damaging |
1.00 |
tintoretto
|
UTSW |
5 |
72,766,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03046:Cnga1
|
UTSW |
5 |
72,761,681 (GRCm39) |
missense |
probably benign |
0.01 |
R0238:Cnga1
|
UTSW |
5 |
72,762,374 (GRCm39) |
missense |
probably damaging |
0.97 |
R0238:Cnga1
|
UTSW |
5 |
72,762,374 (GRCm39) |
missense |
probably damaging |
0.97 |
R0352:Cnga1
|
UTSW |
5 |
72,761,846 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1292:Cnga1
|
UTSW |
5 |
72,762,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R1386:Cnga1
|
UTSW |
5 |
72,769,526 (GRCm39) |
nonsense |
probably null |
|
R1903:Cnga1
|
UTSW |
5 |
72,774,068 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2096:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2097:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2101:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2276:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2279:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2507:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2508:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3005:Cnga1
|
UTSW |
5 |
72,762,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R3779:Cnga1
|
UTSW |
5 |
72,762,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Cnga1
|
UTSW |
5 |
72,775,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R4399:Cnga1
|
UTSW |
5 |
72,761,724 (GRCm39) |
missense |
probably damaging |
0.98 |
R4615:Cnga1
|
UTSW |
5 |
72,762,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R4946:Cnga1
|
UTSW |
5 |
72,762,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R5229:Cnga1
|
UTSW |
5 |
72,766,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R5474:Cnga1
|
UTSW |
5 |
72,762,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Cnga1
|
UTSW |
5 |
72,775,593 (GRCm39) |
missense |
probably damaging |
0.98 |
R5754:Cnga1
|
UTSW |
5 |
72,762,615 (GRCm39) |
missense |
probably benign |
0.00 |
R5899:Cnga1
|
UTSW |
5 |
72,776,404 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5906:Cnga1
|
UTSW |
5 |
72,768,201 (GRCm39) |
missense |
probably benign |
0.19 |
R5954:Cnga1
|
UTSW |
5 |
72,762,221 (GRCm39) |
missense |
probably damaging |
0.99 |
R5997:Cnga1
|
UTSW |
5 |
72,761,918 (GRCm39) |
missense |
probably damaging |
0.98 |
R6087:Cnga1
|
UTSW |
5 |
72,768,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6365:Cnga1
|
UTSW |
5 |
72,762,288 (GRCm39) |
missense |
probably benign |
0.00 |
R6391:Cnga1
|
UTSW |
5 |
72,769,702 (GRCm39) |
critical splice donor site |
probably null |
|
R6525:Cnga1
|
UTSW |
5 |
72,775,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Cnga1
|
UTSW |
5 |
72,786,696 (GRCm39) |
intron |
probably benign |
|
R7229:Cnga1
|
UTSW |
5 |
72,775,592 (GRCm39) |
missense |
probably benign |
|
R7299:Cnga1
|
UTSW |
5 |
72,762,775 (GRCm39) |
missense |
probably benign |
0.20 |
R7367:Cnga1
|
UTSW |
5 |
72,762,701 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7449:Cnga1
|
UTSW |
5 |
72,762,647 (GRCm39) |
missense |
probably benign |
0.29 |
R7538:Cnga1
|
UTSW |
5 |
72,769,723 (GRCm39) |
missense |
probably benign |
0.24 |
R7808:Cnga1
|
UTSW |
5 |
72,761,616 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7922:Cnga1
|
UTSW |
5 |
72,762,225 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7938:Cnga1
|
UTSW |
5 |
72,761,597 (GRCm39) |
missense |
probably benign |
0.27 |
R7994:Cnga1
|
UTSW |
5 |
72,762,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R8249:Cnga1
|
UTSW |
5 |
72,762,737 (GRCm39) |
missense |
probably benign |
0.02 |
R8690:Cnga1
|
UTSW |
5 |
72,761,835 (GRCm39) |
missense |
probably benign |
0.15 |
R9689:Cnga1
|
UTSW |
5 |
72,762,170 (GRCm39) |
missense |
probably benign |
0.10 |
X0062:Cnga1
|
UTSW |
5 |
72,761,828 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cnga1
|
UTSW |
5 |
72,762,873 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAGGAATGACTTAAGCCAATG -3'
(R):5'- GGGATTTAGGGAAACTGTGATTGAC -3'
Sequencing Primer
(F):5'- GCCAATGAGTAAGACCATGTTAC -3'
(R):5'- GACTAAATGTGTTCTTACAGACCTCG -3'
|
Posted On |
2019-10-07 |