Incidental Mutation 'R7449:Cnga1'
ID |
577546 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnga1
|
Ensembl Gene |
ENSMUSG00000067220 |
Gene Name |
cyclic nucleotide gated channel alpha 1 |
Synonyms |
Cncg |
MMRRC Submission |
045524-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.310)
|
Stock # |
R7449 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
72761039-72800095 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72762647 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 289
(I289T)
|
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: I289T
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000084464 Gene: ENSMUSG00000067220 AA Change: I289T
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: I289T
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000132329 Gene: ENSMUSG00000067220 AA Change: I289T
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: I289T
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143881 Gene: ENSMUSG00000067220 AA Change: I289T
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: 99.7%
- 20x: 99.0%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,035,131 (GRCm39) |
Y306N |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,647,192 (GRCm39) |
V3116D |
probably damaging |
Het |
Adss1 |
A |
T |
12: 112,600,585 (GRCm39) |
T185S |
probably damaging |
Het |
Ago2 |
G |
A |
15: 73,018,348 (GRCm39) |
P30L |
probably damaging |
Het |
Arb2a |
A |
G |
13: 77,907,561 (GRCm39) |
I41V |
probably damaging |
Het |
Atp5pf |
C |
T |
16: 84,628,251 (GRCm39) |
V44M |
probably benign |
Het |
Atp7b |
T |
A |
8: 22,501,865 (GRCm39) |
I833F |
probably damaging |
Het |
Birc6 |
T |
A |
17: 75,009,336 (GRCm39) |
N4869K |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,579,310 (GRCm39) |
D1796N |
|
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Crybg1 |
C |
A |
10: 43,880,515 (GRCm39) |
E224D |
probably benign |
Het |
Dysf |
T |
C |
6: 84,114,362 (GRCm39) |
L1217P |
possibly damaging |
Het |
Ebf2 |
T |
A |
14: 67,647,469 (GRCm39) |
N339K |
probably damaging |
Het |
Eva1c |
T |
C |
16: 90,673,081 (GRCm39) |
|
probably null |
Het |
Fam184a |
T |
C |
10: 53,574,730 (GRCm39) |
E293G |
probably damaging |
Het |
Folh1 |
G |
A |
7: 86,380,956 (GRCm39) |
P506S |
probably benign |
Het |
Ftcd |
A |
T |
10: 76,415,997 (GRCm39) |
K210N |
probably benign |
Het |
Gdf6 |
T |
A |
4: 9,844,494 (GRCm39) |
V6D |
possibly damaging |
Het |
Ghitm |
C |
A |
14: 36,853,538 (GRCm39) |
G101C |
probably damaging |
Het |
Gimap5 |
T |
A |
6: 48,729,838 (GRCm39) |
V136D |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,654,345 (GRCm39) |
G535D |
probably damaging |
Het |
Gse1 |
T |
C |
8: 120,956,450 (GRCm39) |
S314P |
unknown |
Het |
Hnrnpdl |
A |
G |
5: 100,185,014 (GRCm39) |
I279T |
probably damaging |
Het |
Idi2l |
T |
A |
13: 8,993,340 (GRCm39) |
H51L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,366,345 (GRCm39) |
S923P |
probably damaging |
Het |
Krt39 |
C |
A |
11: 99,408,887 (GRCm39) |
C303F |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,545,482 (GRCm39) |
S427P |
possibly damaging |
Het |
Lrrn3 |
T |
A |
12: 41,503,487 (GRCm39) |
R277W |
probably damaging |
Het |
Ltb4r1 |
T |
C |
14: 56,005,375 (GRCm39) |
L226P |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,557,285 (GRCm39) |
L125P |
probably damaging |
Het |
Nid1 |
T |
G |
13: 13,656,636 (GRCm39) |
V589G |
probably damaging |
Het |
Nlrp5 |
T |
G |
7: 23,116,951 (GRCm39) |
F225C |
probably benign |
Het |
Notch3 |
C |
T |
17: 32,376,940 (GRCm39) |
A322T |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,115,063 (GRCm39) |
H148R |
probably benign |
Het |
Or52a5b |
G |
T |
7: 103,417,026 (GRCm39) |
Q193K |
probably benign |
Het |
Or7g34 |
T |
A |
9: 19,478,162 (GRCm39) |
T173S |
probably benign |
Het |
Otogl |
A |
G |
10: 107,639,524 (GRCm39) |
C1363R |
probably damaging |
Het |
Ovol1 |
T |
A |
19: 5,603,625 (GRCm39) |
D92V |
probably benign |
Het |
Pigt |
T |
C |
2: 164,344,419 (GRCm39) |
L356P |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,612,996 (GRCm39) |
Q434R |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,126,326 (GRCm39) |
F1344L |
probably benign |
Het |
Polr1has |
A |
G |
17: 37,275,275 (GRCm39) |
D16G |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
Pus1 |
A |
G |
5: 110,922,452 (GRCm39) |
L405P |
probably damaging |
Het |
Qtrt2 |
T |
A |
16: 43,701,395 (GRCm39) |
H55L |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Raver2 |
T |
A |
4: 100,959,860 (GRCm39) |
H113Q |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,589,765 (GRCm39) |
D760G |
unknown |
Het |
Rhobtb3 |
C |
T |
13: 76,058,860 (GRCm39) |
V313M |
probably benign |
Het |
Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rnf185 |
T |
C |
11: 3,376,578 (GRCm39) |
Q135R |
probably benign |
Het |
Sema3f |
T |
C |
9: 107,561,235 (GRCm39) |
S584G |
probably damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,256,091 (GRCm39) |
T904S |
probably benign |
Het |
Slc4a10 |
T |
C |
2: 62,134,290 (GRCm39) |
V1002A |
probably benign |
Het |
Taf1b |
T |
C |
12: 24,554,992 (GRCm39) |
I55T |
probably benign |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,523,420 (GRCm39) |
D1654V |
possibly damaging |
Het |
Tgfb1 |
G |
A |
7: 25,404,263 (GRCm39) |
V357M |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,922,335 (GRCm39) |
P2383S |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,858,723 (GRCm39) |
M382L |
probably benign |
Het |
Trrap |
A |
G |
5: 144,788,019 (GRCm39) |
Y3516C |
probably damaging |
Het |
Txnrd1 |
T |
A |
10: 82,721,067 (GRCm39) |
Y494* |
probably null |
Het |
Ubr2 |
C |
T |
17: 47,275,714 (GRCm39) |
E811K |
probably damaging |
Het |
Ubxn4 |
T |
A |
1: 128,172,280 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,678,869 (GRCm39) |
M785T |
probably damaging |
Het |
Vmn2r99 |
G |
A |
17: 19,599,407 (GRCm39) |
D364N |
probably benign |
Het |
Vps45 |
C |
A |
3: 95,954,448 (GRCm39) |
|
probably null |
Het |
Wdr25 |
A |
C |
12: 108,992,367 (GRCm39) |
H426P |
probably damaging |
Het |
Wdr83 |
A |
T |
8: 85,806,310 (GRCm39) |
W136R |
probably damaging |
Het |
Xylt1 |
A |
C |
7: 117,191,232 (GRCm39) |
I343L |
possibly damaging |
Het |
Zscan4b |
T |
C |
7: 10,637,985 (GRCm39) |
Q53R |
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 |
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'- ATGGTTGTCAAAGTCAAAGTAGACC -3'
(R):5'- GTTACCTGGAACAAGGGCTG -3'
Sequencing Primer
(F):5'- TCAAAGTAGACCAATAAAGGCTGTAG -3'
(R):5'- CTGGAACAAGGGCTGCTAGTG -3'
|
Posted On |
2019-10-07 |