Incidental Mutation 'R7994:Cnga1'
ID |
651924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnga1
|
Ensembl Gene |
ENSMUSG00000067220 |
Gene Name |
cyclic nucleotide gated channel alpha 1 |
Synonyms |
Cncg |
MMRRC Submission |
046035-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R7994 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72761039-72800095 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72762003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 504
(I504F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084464
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087213]
[ENSMUST00000169997]
[ENSMUST00000201463]
|
AlphaFold |
P29974 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087213
AA Change: I504F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084464 Gene: ENSMUSG00000067220 AA Change: I504F
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 damaging
Transcript: ENSMUST00000169997
AA Change: I504F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132329 Gene: ENSMUSG00000067220 AA Change: I504F
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 damaging
Transcript: ENSMUST00000201463
AA Change: I504F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143881 Gene: ENSMUSG00000067220 AA Change: I504F
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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (56/56) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
G |
C |
5: 124,220,090 (GRCm39) |
F318L |
probably benign |
Het |
Adad1 |
T |
C |
3: 37,146,120 (GRCm39) |
I496T |
possibly damaging |
Het |
Amotl1 |
T |
A |
9: 14,504,657 (GRCm39) |
N184Y |
probably damaging |
Het |
Asz1 |
T |
C |
6: 18,054,640 (GRCm39) |
I388V |
probably benign |
Het |
Brpf1 |
C |
G |
6: 113,292,002 (GRCm39) |
H349Q |
probably damaging |
Het |
Cebpz |
T |
C |
17: 79,242,028 (GRCm39) |
D542G |
probably damaging |
Het |
Cfap44 |
T |
C |
16: 44,252,501 (GRCm39) |
V870A |
probably damaging |
Het |
Col4a3 |
G |
A |
1: 82,640,627 (GRCm39) |
G315D |
unknown |
Het |
Commd10 |
A |
G |
18: 47,091,986 (GRCm39) |
E11G |
possibly damaging |
Het |
Coq9 |
A |
C |
8: 95,579,785 (GRCm39) |
N247H |
probably benign |
Het |
Cort |
A |
T |
4: 149,209,762 (GRCm39) |
C97S |
probably damaging |
Het |
Dclre1b |
T |
C |
3: 103,710,702 (GRCm39) |
D403G |
probably damaging |
Het |
Efcab8 |
G |
A |
2: 153,625,724 (GRCm39) |
G128E |
|
Het |
Ercc5 |
T |
C |
1: 44,217,494 (GRCm39) |
S946P |
possibly damaging |
Het |
Fam221b |
C |
T |
4: 43,665,514 (GRCm39) |
V315M |
probably damaging |
Het |
Fam3c |
T |
C |
6: 22,308,459 (GRCm39) |
K245E |
probably damaging |
Het |
Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
Gadd45g |
T |
C |
13: 52,001,803 (GRCm39) |
S123P |
possibly damaging |
Het |
Gm49368 |
A |
G |
7: 127,684,818 (GRCm39) |
D396G |
possibly damaging |
Het |
Gsto1 |
G |
A |
19: 47,847,899 (GRCm39) |
R132K |
probably benign |
Het |
Gtf3c2 |
T |
C |
5: 31,327,217 (GRCm39) |
I327V |
possibly damaging |
Het |
Hipk2 |
T |
C |
6: 38,795,403 (GRCm39) |
K289E |
possibly damaging |
Het |
Igkv4-80 |
G |
T |
6: 68,993,621 (GRCm39) |
T90N |
probably benign |
Het |
Ilrun |
C |
A |
17: 27,986,917 (GRCm39) |
A270S |
probably benign |
Het |
Madcam1 |
A |
T |
10: 79,504,069 (GRCm39) |
|
probably null |
Het |
Mgat1 |
T |
C |
11: 49,152,770 (GRCm39) |
Y418H |
probably damaging |
Het |
Myh10 |
T |
C |
11: 68,681,070 (GRCm39) |
|
probably null |
Het |
Notch4 |
C |
A |
17: 34,797,064 (GRCm39) |
H937Q |
possibly damaging |
Het |
Npas2 |
G |
T |
1: 39,367,418 (GRCm39) |
C313F |
possibly damaging |
Het |
Nup93 |
A |
G |
8: 95,032,930 (GRCm39) |
M565V |
probably benign |
Het |
Or10al3 |
C |
T |
17: 38,012,326 (GRCm39) |
T255I |
probably damaging |
Het |
Or1x6 |
T |
G |
11: 50,938,967 (GRCm39) |
V11G |
probably benign |
Het |
Or52a5 |
T |
A |
7: 103,426,607 (GRCm39) |
H315L |
probably benign |
Het |
Or56b2j |
T |
A |
7: 104,353,635 (GRCm39) |
V287D |
probably damaging |
Het |
Or6k4 |
G |
T |
1: 173,964,273 (GRCm39) |
|
probably benign |
Het |
Otop1 |
C |
T |
5: 38,457,195 (GRCm39) |
T318I |
probably benign |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,724 (GRCm39) |
E144G |
probably damaging |
Het |
Plekha8 |
T |
C |
6: 54,592,230 (GRCm39) |
L18P |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,798,776 (GRCm39) |
D939G |
probably damaging |
Het |
Prkag3 |
T |
A |
1: 74,786,414 (GRCm39) |
Q177L |
probably benign |
Het |
Rcor3 |
C |
A |
1: 191,785,945 (GRCm39) |
S431I |
probably damaging |
Het |
Scrib |
G |
A |
15: 75,936,431 (GRCm39) |
T475I |
probably damaging |
Het |
Serpinb1a |
T |
A |
13: 33,027,033 (GRCm39) |
D303V |
probably damaging |
Het |
Snrnp25 |
T |
A |
11: 32,157,569 (GRCm39) |
V49E |
probably benign |
Het |
Sobp |
A |
T |
10: 42,897,163 (GRCm39) |
Y807* |
probably null |
Het |
Spata31e4 |
T |
A |
13: 50,856,900 (GRCm39) |
V846D |
probably benign |
Het |
Srcap |
T |
C |
7: 127,140,930 (GRCm39) |
V1570A |
probably benign |
Het |
Srcin1 |
C |
T |
11: 97,422,742 (GRCm39) |
V731M |
probably damaging |
Het |
Syt2 |
A |
T |
1: 134,675,330 (GRCm39) |
M394L |
possibly damaging |
Het |
Tafa4 |
C |
T |
6: 96,840,847 (GRCm39) |
E49K |
probably damaging |
Het |
Tert |
T |
A |
13: 73,797,074 (GRCm39) |
I1104N |
probably benign |
Het |
Ttn |
T |
C |
2: 76,621,439 (GRCm39) |
Y15667C |
probably damaging |
Het |
Twnk |
A |
G |
19: 44,996,277 (GRCm39) |
T237A |
probably benign |
Het |
Zfp157 |
T |
A |
5: 138,453,450 (GRCm39) |
|
probably null |
Het |
Zfp503 |
C |
A |
14: 22,035,074 (GRCm39) |
S614I |
probably damaging |
Het |
Zswim8 |
T |
A |
14: 20,758,072 (GRCm39) |
N52K |
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 |
R7425:Cnga1
|
UTSW |
5 |
72,766,868 (GRCm39) |
missense |
probably benign |
0.12 |
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 |
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'- GCCGATGCTCTTAATGTTGG -3'
(R):5'- ATGGTTTGACTACCTGTGGAC -3'
Sequencing Primer
(F):5'- CCGATGCTCTTAATGTTGGCTGTTC -3'
(R):5'- GAGAAGTCCTGAGATACCTCCCTG -3'
|
Posted On |
2020-09-15 |