Incidental Mutation 'R8004:Cngb3'
| ID |
616499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb3
|
| Ensembl Gene |
ENSMUSG00000056494 |
| Gene Name |
cyclic nucleotide gated channel beta 3 |
| Synonyms |
CNG6, CCNC2, Cngbeta2 |
| MMRRC Submission |
046044-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R8004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
19280850-19510623 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19505273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 669
(K669E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102999]
|
| AlphaFold |
Q9JJZ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102999
AA Change: K669E
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000100064
Gene: ENSMUSG00000056494
AA Change: K669E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
210 |
445 |
5.7e-21 |
PFAM |
|
cNMP
|
516 |
635 |
5.99e-23 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cone degeneration and decreased photopic response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 12,021,286 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
T |
A |
2: 69,087,554 (GRCm39) |
K1070N |
possibly damaging |
Het |
| Ankrd24 |
T |
A |
10: 81,474,191 (GRCm39) |
N179K |
unknown |
Het |
| Atp6v0a4 |
A |
T |
6: 38,027,484 (GRCm39) |
F775L |
possibly damaging |
Het |
| Bbs2 |
A |
G |
8: 94,809,118 (GRCm39) |
V269A |
possibly damaging |
Het |
| Bpifc |
T |
G |
10: 85,815,148 (GRCm39) |
S273R |
probably benign |
Het |
| Cdan1 |
C |
T |
2: 120,561,924 (GRCm39) |
R20Q |
unknown |
Het |
| Cfap251 |
T |
C |
5: 123,392,513 (GRCm39) |
W216R |
unknown |
Het |
| Chrm2 |
T |
A |
6: 36,500,221 (GRCm39) |
I26N |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,479,380 (GRCm39) |
I876V |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,591,683 (GRCm39) |
T926S |
probably damaging |
Het |
| Cyp2b23 |
G |
T |
7: 26,378,891 (GRCm39) |
T191K |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,057,532 (GRCm39) |
D342G |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,189,172 (GRCm39) |
V453A |
probably benign |
Het |
| Eif2ak4 |
T |
C |
2: 118,247,775 (GRCm39) |
S271P |
possibly damaging |
Het |
| Fbxw20 |
G |
T |
9: 109,050,449 (GRCm39) |
P392H |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,926,013 (GRCm39) |
E118V |
possibly damaging |
Het |
| Gm2042 |
C |
G |
12: 87,926,921 (GRCm39) |
Q413E |
possibly damaging |
Het |
| Gm904 |
G |
A |
13: 50,799,343 (GRCm39) |
|
probably null |
Het |
| H2-D1 |
A |
G |
17: 35,485,672 (GRCm39) |
S352G |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,067,954 (GRCm39) |
V451L |
probably benign |
Het |
| Igkv1-99 |
T |
C |
6: 68,519,112 (GRCm39) |
V23A |
|
Het |
| Igsf10 |
A |
G |
3: 59,237,130 (GRCm39) |
I1017T |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,513,917 (GRCm39) |
C41Y |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 115,873,531 (GRCm39) |
D249G |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrn2 |
T |
A |
1: 132,865,489 (GRCm39) |
F185I |
probably damaging |
Het |
| Mllt6 |
G |
T |
11: 97,566,966 (GRCm39) |
E635D |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,294,215 (GRCm39) |
E990G |
probably damaging |
Het |
| Myo1h |
A |
T |
5: 114,458,769 (GRCm39) |
D184V |
|
Het |
| Nfatc2ip |
A |
G |
7: 125,989,577 (GRCm39) |
V269A |
possibly damaging |
Het |
| Nfkb1 |
C |
A |
3: 135,297,312 (GRCm39) |
|
probably benign |
Het |
| Nol12 |
A |
T |
15: 78,824,717 (GRCm39) |
K181N |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,379,286 (GRCm39) |
T266S |
probably benign |
Het |
| Oog2 |
A |
T |
4: 143,920,821 (GRCm39) |
I85L |
probably benign |
Het |
| Or5k3 |
T |
A |
16: 58,969,351 (GRCm39) |
V46E |
probably damaging |
Het |
| Or7e171-ps1 |
A |
T |
9: 19,853,408 (GRCm39) |
D109E |
possibly damaging |
Het |
| Parm1 |
A |
C |
5: 91,742,132 (GRCm39) |
S167R |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,158,674 (GRCm39) |
D526G |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Psmd9 |
T |
C |
5: 123,379,998 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,749,242 (GRCm39) |
V1220A |
probably damaging |
Het |
| Rbm25 |
A |
T |
12: 83,721,166 (GRCm39) |
E577D |
possibly damaging |
Het |
| Rbm44 |
T |
A |
1: 91,079,880 (GRCm39) |
|
probably benign |
Het |
| S100a6 |
T |
C |
3: 90,521,119 (GRCm39) |
F16L |
probably benign |
Het |
| Sar1a |
C |
A |
10: 61,520,945 (GRCm39) |
H53Q |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,421,613 (GRCm39) |
A282T |
|
Het |
| Slc35f5 |
A |
T |
1: 125,517,624 (GRCm39) |
H474L |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,525,711 (GRCm39) |
|
probably null |
Het |
| Smc1b |
G |
A |
15: 84,981,815 (GRCm39) |
S735F |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,552 (GRCm39) |
I531K |
possibly damaging |
Het |
| St6galnac5 |
A |
T |
3: 152,545,802 (GRCm39) |
M252K |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,390 (GRCm39) |
H157Q |
possibly damaging |
Het |
| Tbc1d10b |
T |
A |
7: 126,798,183 (GRCm39) |
S653C |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,452,047 (GRCm39) |
E693G |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,499,633 (GRCm39) |
S1855P |
probably benign |
Het |
| Tjp2 |
G |
A |
19: 24,091,484 (GRCm39) |
P559L |
probably damaging |
Het |
| Tmem184b |
A |
G |
15: 79,246,966 (GRCm39) |
S368P |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,902,894 (GRCm39) |
S1461L |
probably benign |
Het |
| Tnpo2 |
T |
C |
8: 85,771,328 (GRCm39) |
F177S |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,506 (GRCm39) |
Y241* |
probably null |
Het |
|
| Other mutations in Cngb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00740:Cngb3
|
APN |
4 |
19,280,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01301:Cngb3
|
APN |
4 |
19,425,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01735:Cngb3
|
APN |
4 |
19,415,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01756:Cngb3
|
APN |
4 |
19,367,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01812:Cngb3
|
APN |
4 |
19,461,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02123:Cngb3
|
APN |
4 |
19,367,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02636:Cngb3
|
APN |
4 |
19,396,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02648:Cngb3
|
APN |
4 |
19,428,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02935:Cngb3
|
APN |
4 |
19,425,491 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03025:Cngb3
|
APN |
4 |
19,283,498 (GRCm39) |
splice site |
probably benign |
|
|
IGL03068:Cngb3
|
APN |
4 |
19,375,246 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
braced
|
UTSW |
4 |
19,395,922 (GRCm39) |
splice site |
probably benign |
|
|
ANU18:Cngb3
|
UTSW |
4 |
19,425,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Cngb3
|
UTSW |
4 |
19,396,685 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0014:Cngb3
|
UTSW |
4 |
19,396,685 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0195:Cngb3
|
UTSW |
4 |
19,280,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0361:Cngb3
|
UTSW |
4 |
19,366,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0480:Cngb3
|
UTSW |
4 |
19,309,517 (GRCm39) |
splice site |
probably benign |
|
|
R1103:Cngb3
|
UTSW |
4 |
19,309,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1450:Cngb3
|
UTSW |
4 |
19,395,922 (GRCm39) |
splice site |
probably benign |
|
|
R1618:Cngb3
|
UTSW |
4 |
19,364,260 (GRCm39) |
missense |
probably benign |
|
|
R1891:Cngb3
|
UTSW |
4 |
19,366,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2196:Cngb3
|
UTSW |
4 |
19,415,690 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2850:Cngb3
|
UTSW |
4 |
19,415,690 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3909:Cngb3
|
UTSW |
4 |
19,461,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3941:Cngb3
|
UTSW |
4 |
19,396,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4348:Cngb3
|
UTSW |
4 |
19,396,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4490:Cngb3
|
UTSW |
4 |
19,415,684 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4493:Cngb3
|
UTSW |
4 |
19,367,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Cngb3
|
UTSW |
4 |
19,425,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Cngb3
|
UTSW |
4 |
19,309,562 (GRCm39) |
missense |
probably benign |
|
|
R4774:Cngb3
|
UTSW |
4 |
19,415,713 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4860:Cngb3
|
UTSW |
4 |
19,425,569 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4860:Cngb3
|
UTSW |
4 |
19,425,569 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4898:Cngb3
|
UTSW |
4 |
19,395,926 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5216:Cngb3
|
UTSW |
4 |
19,415,729 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5647:Cngb3
|
UTSW |
4 |
19,364,266 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5945:Cngb3
|
UTSW |
4 |
19,283,579 (GRCm39) |
missense |
probably null |
0.00 |
|
R6586:Cngb3
|
UTSW |
4 |
19,280,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6650:Cngb3
|
UTSW |
4 |
19,364,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Cngb3
|
UTSW |
4 |
19,375,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7070:Cngb3
|
UTSW |
4 |
19,425,593 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7316:Cngb3
|
UTSW |
4 |
19,425,599 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7371:Cngb3
|
UTSW |
4 |
19,425,575 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7554:Cngb3
|
UTSW |
4 |
19,461,753 (GRCm39) |
nonsense |
probably null |
|
|
R7755:Cngb3
|
UTSW |
4 |
19,461,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8025:Cngb3
|
UTSW |
4 |
19,280,960 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9143:Cngb3
|
UTSW |
4 |
19,375,190 (GRCm39) |
splice site |
probably benign |
|
|
R9366:Cngb3
|
UTSW |
4 |
19,395,983 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9489:Cngb3
|
UTSW |
4 |
19,505,187 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9605:Cngb3
|
UTSW |
4 |
19,505,187 (GRCm39) |
missense |
probably benign |
0.17 |
|
X0062:Cngb3
|
UTSW |
4 |
19,364,189 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0067:Cngb3
|
UTSW |
4 |
19,367,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAACTGAAAGGGAATATCCACTG -3'
(R):5'- ACCCAAAGCTCCATTGTTAGTG -3'
Sequencing Primer
(F):5'- GGGAATATCCACTGAAAATTCAGG -3'
(R):5'- AGTGTCAGATTCATCCAAATTCCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation