Incidental Mutation 'IGL02332:Cnga1'
| ID |
288710 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cnga1
|
| Ensembl Gene |
ENSMUSG00000067220 |
| Gene Name |
cyclic nucleotide gated channel alpha 1 |
| Synonyms |
Cncg |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.310)
|
| Stock # |
IGL02332
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
72761039-72800095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72761829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 562
(Y562H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087213]
[ENSMUST00000169997]
[ENSMUST00000201463]
|
| AlphaFold |
P29974 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087213
AA Change: Y562H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084464
Gene: ENSMUSG00000067220
AA Change: Y562H
| 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: Y562H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132329
Gene: ENSMUSG00000067220
AA Change: Y562H
| 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: Y562H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143881
Gene: ENSMUSG00000067220
AA Change: Y562H
| 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B24Rik |
A |
G |
3: 48,563,323 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
A |
T |
11: 9,241,482 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Adam29 |
T |
A |
8: 56,324,775 (GRCm39) |
I560F |
probably damaging |
Het |
| Bivm |
T |
C |
1: 44,167,880 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
C |
A |
4: 68,823,121 (GRCm39) |
R24L |
probably benign |
Het |
| Cr2 |
C |
A |
1: 194,842,630 (GRCm39) |
Q256H |
probably benign |
Het |
| Dhcr7 |
A |
T |
7: 143,396,865 (GRCm39) |
N119I |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,150,978 (GRCm39) |
Y169N |
probably damaging |
Het |
| Dmbt1 |
C |
T |
7: 130,668,343 (GRCm39) |
|
probably benign |
Het |
| Eogt |
T |
G |
6: 97,102,566 (GRCm39) |
H249P |
probably damaging |
Het |
| Ermard |
A |
C |
17: 15,210,807 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
T |
C |
6: 33,226,175 (GRCm39) |
|
probably null |
Het |
| Fxr2 |
G |
T |
11: 69,540,664 (GRCm39) |
|
probably null |
Het |
| Glyr1 |
G |
T |
16: 4,836,817 (GRCm39) |
T443N |
probably damaging |
Het |
| Gm14137 |
T |
G |
2: 119,005,807 (GRCm39) |
L122R |
probably damaging |
Het |
| Gm4845 |
C |
A |
1: 141,184,335 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8258 |
A |
G |
5: 104,923,768 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
G |
A |
3: 63,897,990 (GRCm39) |
R258H |
probably benign |
Het |
| Itga6 |
T |
G |
2: 71,668,717 (GRCm39) |
L552R |
possibly damaging |
Het |
| Itgam |
T |
A |
7: 127,684,846 (GRCm39) |
|
probably null |
Het |
| Itgb5 |
G |
T |
16: 33,740,500 (GRCm39) |
E224* |
probably null |
Het |
| Itih4 |
C |
A |
14: 30,609,817 (GRCm39) |
A49D |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,328,040 (GRCm39) |
N64K |
probably damaging |
Het |
| Moap1 |
T |
C |
12: 102,709,066 (GRCm39) |
Y161C |
probably benign |
Het |
| Mst1r |
G |
T |
9: 107,785,025 (GRCm39) |
G228* |
probably null |
Het |
| Myo1g |
T |
C |
11: 6,470,766 (GRCm39) |
D30G |
possibly damaging |
Het |
| Ndn |
T |
A |
7: 61,998,573 (GRCm39) |
C140S |
probably damaging |
Het |
| Nek5 |
G |
T |
8: 22,585,277 (GRCm39) |
Q367K |
probably benign |
Het |
| Nrdc |
A |
T |
4: 108,858,185 (GRCm39) |
R52S |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,634,571 (GRCm39) |
L1007Q |
probably damaging |
Het |
| Or51k2 |
T |
C |
7: 103,596,127 (GRCm39) |
M118T |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,864,556 (GRCm39) |
D3G |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,409 (GRCm39) |
L200Q |
probably damaging |
Het |
| P2rx2 |
T |
C |
5: 110,489,671 (GRCm39) |
S116G |
probably benign |
Het |
| Pcdhb13 |
G |
A |
18: 37,576,635 (GRCm39) |
V338M |
probably benign |
Het |
| Pdcl2 |
A |
T |
5: 76,466,982 (GRCm39) |
Y70* |
probably null |
Het |
| Ppm1e |
T |
C |
11: 87,122,568 (GRCm39) |
H463R |
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,731,951 (GRCm39) |
C134S |
possibly damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,057,602 (GRCm39) |
F180L |
possibly damaging |
Het |
| Pxn |
A |
G |
5: 115,682,985 (GRCm39) |
S96G |
probably benign |
Het |
| Rasa4 |
G |
T |
5: 136,124,453 (GRCm39) |
Q167H |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,757,640 (GRCm39) |
I43V |
possibly damaging |
Het |
| Sez6 |
C |
T |
11: 77,845,568 (GRCm39) |
|
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,722,880 (GRCm39) |
D473E |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,842,885 (GRCm39) |
D68G |
probably damaging |
Het |
| Syt13 |
T |
C |
2: 92,771,149 (GRCm39) |
F79L |
probably benign |
Het |
| Tas2r103 |
A |
T |
6: 133,013,475 (GRCm39) |
M197K |
probably benign |
Het |
| Tbrg4 |
A |
G |
11: 6,568,492 (GRCm39) |
V429A |
probably damaging |
Het |
| Tuft1 |
A |
C |
3: 94,523,075 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,937 (GRCm39) |
T80A |
probably damaging |
Het |
| Vps18 |
A |
G |
2: 119,124,291 (GRCm39) |
N406S |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 146,868,510 (GRCm39) |
W188R |
probably damaging |
Het |
| Zzef1 |
T |
G |
11: 72,807,335 (GRCm39) |
S2738A |
probably benign |
Het |
|
| Other mutations in Cnga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation