Incidental Mutation 'R7938:Cnga1'
| ID |
648858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnga1
|
| Ensembl Gene |
ENSMUSG00000067220 |
| Gene Name |
cyclic nucleotide gated channel alpha 1 |
| Synonyms |
Cncg |
| MMRRC Submission |
045984-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
R7938 (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 C
at 72761597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 639
(E639G)
|
| 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: E639G
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: E639G
| 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: E639G
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: E639G
| 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: E639G
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: E639G
| 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 |
98% (63/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Bcam |
T |
G |
7: 19,490,738 (GRCm39) |
E586D |
probably benign |
Het |
| Bmp7 |
A |
C |
2: 172,721,283 (GRCm39) |
I264S |
probably benign |
Het |
| Casz1 |
G |
A |
4: 149,028,943 (GRCm39) |
M1129I |
probably benign |
Het |
| Ccdc59 |
T |
A |
10: 105,677,455 (GRCm39) |
N31K |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,887,376 (GRCm39) |
Y607C |
probably benign |
Het |
| Coch |
T |
A |
12: 51,643,366 (GRCm39) |
|
probably null |
Het |
| Col6a6 |
A |
C |
9: 105,657,883 (GRCm39) |
Y776* |
probably null |
Het |
| Cyp1a1 |
T |
G |
9: 57,609,073 (GRCm39) |
L318R |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,389,666 (GRCm39) |
Y233F |
probably benign |
Het |
| Dgkz |
G |
T |
2: 91,795,817 (GRCm39) |
R42S |
probably damaging |
Het |
| Dner |
A |
G |
1: 84,673,218 (GRCm39) |
Y78H |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,163,922 (GRCm39) |
N3111S |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,260,246 (GRCm39) |
S768P |
probably benign |
Het |
| Gm45861 |
T |
A |
8: 28,071,990 (GRCm39) |
N1269K |
unknown |
Het |
| Gpr12 |
T |
A |
5: 146,520,094 (GRCm39) |
Y276F |
possibly damaging |
Het |
| Hace1 |
C |
T |
10: 45,562,792 (GRCm39) |
P769L |
probably benign |
Het |
| Hapln1 |
G |
A |
13: 89,753,347 (GRCm39) |
R171H |
probably damaging |
Het |
| Hlx |
T |
G |
1: 184,464,125 (GRCm39) |
T72P |
probably benign |
Het |
| Iqcm |
G |
T |
8: 76,304,596 (GRCm39) |
C119F |
probably benign |
Het |
| Katna1 |
G |
T |
10: 7,637,075 (GRCm39) |
A409S |
probably benign |
Het |
| Kcnip2 |
A |
T |
19: 45,782,729 (GRCm39) |
I204N |
probably damaging |
Het |
| Kel |
G |
T |
6: 41,675,310 (GRCm39) |
Q314K |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,536,444 (GRCm39) |
V5A |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,607,896 (GRCm39) |
C282S |
probably benign |
Het |
| Lyar |
A |
G |
5: 38,388,295 (GRCm39) |
T274A |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,415,959 (GRCm39) |
H306R |
possibly damaging |
Het |
| Morn5 |
A |
T |
2: 35,947,082 (GRCm39) |
Y120F |
probably benign |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,240 (GRCm39) |
T193A |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,583,327 (GRCm39) |
W8R |
unknown |
Het |
| Nfasc |
A |
G |
1: 132,533,269 (GRCm39) |
V644A |
probably damaging |
Het |
| Nup153 |
G |
T |
13: 46,842,855 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
C |
6: 96,141,866 (GRCm39) |
K393E |
possibly damaging |
Het |
| Or1o4 |
T |
A |
17: 37,590,991 (GRCm39) |
M107L |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,173 (GRCm39) |
Y256* |
probably null |
Het |
| Or5h19 |
A |
T |
16: 58,856,325 (GRCm39) |
Y258* |
probably null |
Het |
| Orc4 |
A |
T |
2: 48,800,203 (GRCm39) |
V315E |
possibly damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,443,549 (GRCm39) |
|
probably null |
Het |
| Pif1 |
A |
G |
9: 65,502,073 (GRCm39) |
D635G |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,310,648 (GRCm39) |
T52A |
probably damaging |
Het |
| Ppp1r36 |
A |
T |
12: 76,485,180 (GRCm39) |
D301V |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,500 (GRCm39) |
N215S |
probably benign |
Het |
| Qser1 |
A |
C |
2: 104,619,312 (GRCm39) |
V410G |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,155,870 (GRCm39) |
N2207K |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,327,810 (GRCm39) |
V180A |
probably benign |
Het |
| Rpa1 |
CA |
C |
11: 75,198,050 (GRCm39) |
|
probably null |
Het |
| Rsph3a |
G |
T |
17: 8,165,050 (GRCm39) |
E137* |
probably null |
Het |
| Spata31f1a |
A |
G |
4: 42,850,765 (GRCm39) |
S464P |
possibly damaging |
Het |
| Sqle |
C |
A |
15: 59,196,315 (GRCm39) |
H369Q |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,057,016 (GRCm39) |
D250E |
probably damaging |
Het |
| Svs3b |
A |
T |
2: 164,097,567 (GRCm39) |
C251* |
probably null |
Het |
| Tdrd9 |
A |
T |
12: 111,997,649 (GRCm39) |
N713Y |
possibly damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,717 (GRCm39) |
S202P |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,096 (GRCm39) |
T707A |
probably benign |
Het |
| Trav8-1 |
T |
G |
14: 53,707,688 (GRCm39) |
D109E |
possibly damaging |
Het |
| Trem2 |
T |
A |
17: 48,658,777 (GRCm39) |
S181T |
probably benign |
Het |
| Trim37 |
A |
G |
11: 87,037,863 (GRCm39) |
N199S |
probably benign |
Het |
| Tshz3 |
T |
C |
7: 36,468,583 (GRCm39) |
F191L |
probably damaging |
Het |
| Ubxn8 |
A |
G |
8: 34,111,712 (GRCm39) |
M227T |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,296,519 (GRCm39) |
I448F |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,687,132 (GRCm39) |
L697M |
probably damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,893,300 (GRCm39) |
D613G |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,622,304 (GRCm39) |
Y11C |
unknown |
Het |
| Zw10 |
T |
A |
9: 48,982,933 (GRCm39) |
D521E |
probably benign |
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 |
|
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'- CTCAGCTGTCTCTGGTCAAAC -3'
(R):5'- GCTCTTACAGAGTACCCAGATGC -3'
Sequencing Primer
(F):5'- TGTCTCTGGTCAAACACTCAAAAGG -3'
(R):5'- CAGATGCCAAAACTATGCTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation