Incidental Mutation 'R9745:Cngb1'
| ID |
732056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 95967919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 1294
(E1294A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119870]
[ENSMUST00000120044]
[ENSMUST00000121162]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000119870
AA Change: E1294A
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: E1294A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
46 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
83 |
315 |
9.8e-17 |
PFAM |
|
cNMP
|
389 |
508 |
4.1e-25 |
SMART |
|
low complexity region
|
555 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000120044
AA Change: E835A
|
| SMART Domains |
Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: E835A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
46 |
N/A |
INTRINSIC |
|
transmembrane domain
|
79 |
101 |
N/A |
INTRINSIC |
|
transmembrane domain
|
114 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
182 |
N/A |
INTRINSIC |
|
cNMP
|
389 |
508 |
4e-25 |
SMART |
|
low complexity region
|
555 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000121162
AA Change: E835A
|
| SMART Domains |
Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: E835A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
46 |
N/A |
INTRINSIC |
|
transmembrane domain
|
79 |
101 |
N/A |
INTRINSIC |
|
transmembrane domain
|
114 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
182 |
N/A |
INTRINSIC |
|
cNMP
|
389 |
508 |
4e-25 |
SMART |
|
low complexity region
|
555 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
636 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.1%
- 20x: 97.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display postnatal lethality, reduced body size and weight, and retinal rod degeneration followed by cone degeneration. Mice homozygous for an allele lacking the calmodulin-binding domain exhibit defective olfactory neural signaling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
T |
A |
10: 126,919,380 (GRCm39) |
H488Q |
unknown |
Het |
| Ces1b |
T |
C |
8: 93,790,625 (GRCm39) |
D388G |
probably benign |
Het |
| Ces1f |
T |
C |
8: 93,989,740 (GRCm39) |
D392G |
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,228,814 (GRCm39) |
V472A |
probably damaging |
Het |
| Chst1 |
A |
G |
2: 92,444,047 (GRCm39) |
D173G |
possibly damaging |
Het |
| Cnmd |
T |
C |
14: 79,887,850 (GRCm39) |
I124V |
possibly damaging |
Het |
| Cntnap2 |
A |
T |
6: 46,211,100 (GRCm39) |
M505L |
probably benign |
Het |
| Cntnap4 |
T |
A |
8: 113,391,808 (GRCm39) |
M91K |
possibly damaging |
Het |
| Cstad |
A |
G |
2: 30,498,197 (GRCm39) |
T11A |
unknown |
Het |
| Cyp2j6 |
A |
T |
4: 96,441,621 (GRCm39) |
V23E |
possibly damaging |
Het |
| Dapk3 |
C |
A |
10: 81,028,594 (GRCm39) |
T388K |
unknown |
Het |
| Dennd6a |
G |
A |
14: 26,320,818 (GRCm39) |
G120R |
possibly damaging |
Het |
| Disp1 |
A |
C |
1: 182,869,310 (GRCm39) |
S1037A |
probably damaging |
Het |
| Dpcd |
A |
T |
19: 45,560,881 (GRCm39) |
Q103L |
probably benign |
Het |
| Egfem1 |
A |
T |
3: 29,716,532 (GRCm39) |
D334V |
probably damaging |
Het |
| Egflam |
C |
T |
15: 7,333,419 (GRCm39) |
V178M |
probably benign |
Het |
| Ehbp1 |
T |
C |
11: 22,096,692 (GRCm39) |
T291A |
probably benign |
Het |
| Eif5b |
G |
T |
1: 38,084,729 (GRCm39) |
V859F |
probably damaging |
Het |
| Fam161a |
A |
T |
11: 22,973,495 (GRCm39) |
Q459L |
possibly damaging |
Het |
| Fcgrt |
A |
C |
7: 44,742,754 (GRCm39) |
D342E |
probably damaging |
Het |
| Fchsd1 |
A |
C |
18: 38,102,425 (GRCm39) |
D34E |
probably benign |
Het |
| Foxo4 |
G |
A |
X: 100,301,955 (GRCm39) |
S209N |
probably benign |
Het |
| Galt |
A |
T |
4: 41,758,185 (GRCm39) |
M317L |
possibly damaging |
Het |
| Gfm1 |
A |
G |
3: 67,358,657 (GRCm39) |
D416G |
possibly damaging |
Het |
| Glcci1 |
A |
T |
6: 8,573,278 (GRCm39) |
I256L |
probably benign |
Het |
| Ibtk |
C |
T |
9: 85,613,280 (GRCm39) |
G228S |
probably benign |
Het |
| Ift70b |
T |
C |
2: 75,768,261 (GRCm39) |
Y164C |
probably benign |
Het |
| Il2rb |
T |
A |
15: 78,372,399 (GRCm39) |
D106V |
probably benign |
Het |
| Map3k6 |
A |
T |
4: 132,979,783 (GRCm39) |
I1261F |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,167,815 (GRCm39) |
L1014P |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,868,729 (GRCm39) |
Q343* |
probably null |
Het |
| Megf8 |
A |
G |
7: 25,058,133 (GRCm39) |
T2136A |
possibly damaging |
Het |
| Mmp28 |
G |
A |
11: 83,342,283 (GRCm39) |
T103I |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,476,587 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,013,311 (GRCm39) |
T35S |
possibly damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,245,192 (GRCm39) |
I502N |
probably benign |
Het |
| Nek5 |
A |
C |
8: 22,573,479 (GRCm39) |
D492E |
probably benign |
Het |
| Nin |
T |
C |
12: 70,089,899 (GRCm39) |
E1172G |
|
Het |
| Nsmaf |
T |
A |
4: 6,416,662 (GRCm39) |
I544F |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,899,284 (GRCm39) |
D763G |
unknown |
Het |
| Or2a20 |
G |
A |
6: 43,194,258 (GRCm39) |
W137* |
probably null |
Het |
| Or4s2 |
T |
A |
2: 88,473,310 (GRCm39) |
F66L |
probably benign |
Het |
| Or51r1 |
A |
T |
7: 102,227,861 (GRCm39) |
D53V |
probably damaging |
Het |
| Or5al6 |
C |
T |
2: 85,976,251 (GRCm39) |
V276M |
probably damaging |
Het |
| Or5aq1 |
T |
A |
2: 86,965,783 (GRCm39) |
N294I |
probably damaging |
Het |
| Or5k15 |
A |
T |
16: 58,710,265 (GRCm39) |
L106Q |
probably damaging |
Het |
| Or5t17 |
T |
C |
2: 86,832,487 (GRCm39) |
V58A |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,879,622 (GRCm39) |
|
probably null |
Het |
| Pitx3 |
A |
G |
19: 46,124,660 (GRCm39) |
S236P |
possibly damaging |
Het |
| Plscr5 |
T |
A |
9: 92,087,502 (GRCm39) |
I157N |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,000,008 (GRCm39) |
M201V |
unknown |
Het |
| Preb |
T |
C |
5: 31,116,732 (GRCm39) |
N54D |
probably benign |
Het |
| Pskh1 |
C |
T |
8: 106,656,404 (GRCm39) |
A360V |
possibly damaging |
Het |
| Ptprk |
T |
C |
10: 28,139,608 (GRCm39) |
L111S |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,152,525 (GRCm39) |
I2314F |
probably damaging |
Het |
| Siglecg |
A |
G |
7: 43,067,476 (GRCm39) |
D681G |
probably damaging |
Het |
| Snx5 |
A |
G |
2: 144,096,716 (GRCm39) |
V283A |
probably benign |
Het |
| Srpk2 |
C |
A |
5: 23,880,874 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
T |
C |
6: 82,469,619 (GRCm39) |
Y168H |
possibly damaging |
Het |
| Tal1 |
G |
T |
4: 114,920,557 (GRCm39) |
R77L |
probably benign |
Het |
| Tdrd12 |
T |
C |
7: 35,185,964 (GRCm39) |
|
probably null |
Het |
| Tdrd7 |
A |
T |
4: 45,994,310 (GRCm39) |
N236I |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,009,130 (GRCm39) |
F1012S |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,784,609 (GRCm39) |
L685Q |
probably damaging |
Het |
| Th |
T |
G |
7: 142,448,851 (GRCm39) |
D342A |
probably damaging |
Het |
| Tpsg1 |
G |
T |
17: 25,591,492 (GRCm39) |
V31L |
probably damaging |
Het |
| Traf3ip1 |
C |
G |
1: 91,439,095 (GRCm39) |
S337* |
probably null |
Het |
| Trpv6 |
A |
G |
6: 41,600,003 (GRCm39) |
F551S |
probably damaging |
Het |
| Urah |
A |
G |
7: 140,415,531 (GRCm39) |
N23D |
probably benign |
Het |
| Vangl1 |
A |
C |
3: 102,072,669 (GRCm39) |
|
probably null |
Het |
| Zc3h6 |
A |
G |
2: 128,859,155 (GRCm39) |
E1062G |
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,110,644 (GRCm39) |
V181E |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,921,795 (GRCm39) |
S641T |
probably benign |
Het |
| Zkscan16 |
A |
T |
4: 58,957,473 (GRCm39) |
H585L |
possibly damaging |
Het |
|
| Other mutations in Cngb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Cngb1
|
APN |
8 |
95,968,812 (GRCm39) |
splice site |
probably benign |
|
|
IGL01575:Cngb1
|
APN |
8 |
95,991,148 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02329:Cngb1
|
APN |
8 |
95,968,987 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03332:Cngb1
|
APN |
8 |
96,025,474 (GRCm39) |
splice site |
probably benign |
|
|
IGL03391:Cngb1
|
APN |
8 |
96,030,333 (GRCm39) |
unclassified |
probably benign |
|
|
stevie
|
UTSW |
8 |
95,986,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
swannie
|
UTSW |
8 |
96,023,756 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0078:Cngb1
|
UTSW |
8 |
95,991,173 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0116:Cngb1
|
UTSW |
8 |
95,987,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:Cngb1
|
UTSW |
8 |
96,030,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1166:Cngb1
|
UTSW |
8 |
95,986,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1714:Cngb1
|
UTSW |
8 |
95,984,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Cngb1
|
UTSW |
8 |
96,024,401 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R1760:Cngb1
|
UTSW |
8 |
96,026,328 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1833:Cngb1
|
UTSW |
8 |
95,968,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Cngb1
|
UTSW |
8 |
96,026,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1939:Cngb1
|
UTSW |
8 |
96,026,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Cngb1
|
UTSW |
8 |
96,026,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Cngb1
|
UTSW |
8 |
96,023,713 (GRCm39) |
splice site |
probably null |
|
|
R2379:Cngb1
|
UTSW |
8 |
95,986,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2940:Cngb1
|
UTSW |
8 |
95,978,735 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4034:Cngb1
|
UTSW |
8 |
95,991,078 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4058:Cngb1
|
UTSW |
8 |
95,994,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4425:Cngb1
|
UTSW |
8 |
96,026,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Cngb1
|
UTSW |
8 |
96,023,756 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4591:Cngb1
|
UTSW |
8 |
95,980,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4638:Cngb1
|
UTSW |
8 |
95,992,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Cngb1
|
UTSW |
8 |
95,978,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4950:Cngb1
|
UTSW |
8 |
95,975,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4979:Cngb1
|
UTSW |
8 |
95,985,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5148:Cngb1
|
UTSW |
8 |
95,992,611 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5474:Cngb1
|
UTSW |
8 |
95,978,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:Cngb1
|
UTSW |
8 |
95,978,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5545:Cngb1
|
UTSW |
8 |
95,978,801 (GRCm39) |
missense |
|
|
|
R5585:Cngb1
|
UTSW |
8 |
95,989,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5637:Cngb1
|
UTSW |
8 |
95,984,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Cngb1
|
UTSW |
8 |
95,980,823 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5967:Cngb1
|
UTSW |
8 |
95,978,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Cngb1
|
UTSW |
8 |
96,010,949 (GRCm39) |
unclassified |
probably benign |
|
|
R6049:Cngb1
|
UTSW |
8 |
95,997,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6370:Cngb1
|
UTSW |
8 |
95,991,050 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6377:Cngb1
|
UTSW |
8 |
95,975,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6401:Cngb1
|
UTSW |
8 |
96,030,367 (GRCm39) |
unclassified |
probably benign |
|
|
R6427:Cngb1
|
UTSW |
8 |
96,024,387 (GRCm39) |
intron |
probably benign |
|
|
R6492:Cngb1
|
UTSW |
8 |
95,991,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6613:Cngb1
|
UTSW |
8 |
95,992,638 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6721:Cngb1
|
UTSW |
8 |
95,997,516 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6919:Cngb1
|
UTSW |
8 |
95,975,003 (GRCm39) |
missense |
probably null |
1.00 |
|
R7012:Cngb1
|
UTSW |
8 |
95,984,583 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7418:Cngb1
|
UTSW |
8 |
96,004,887 (GRCm39) |
nonsense |
probably null |
|
|
R7464:Cngb1
|
UTSW |
8 |
95,980,811 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7806:Cngb1
|
UTSW |
8 |
96,025,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8048:Cngb1
|
UTSW |
8 |
95,989,838 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8074:Cngb1
|
UTSW |
8 |
95,978,801 (GRCm39) |
missense |
|
|
|
R8189:Cngb1
|
UTSW |
8 |
96,030,248 (GRCm39) |
unclassified |
probably benign |
|
|
R8245:Cngb1
|
UTSW |
8 |
96,024,408 (GRCm39) |
missense |
unknown |
|
|
R8286:Cngb1
|
UTSW |
8 |
96,002,252 (GRCm39) |
missense |
|
|
|
R8819:Cngb1
|
UTSW |
8 |
95,980,037 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8906:Cngb1
|
UTSW |
8 |
95,989,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Cngb1
|
UTSW |
8 |
96,004,913 (GRCm39) |
start gained |
probably benign |
|
|
R9075:Cngb1
|
UTSW |
8 |
95,979,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9131:Cngb1
|
UTSW |
8 |
95,979,893 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9311:Cngb1
|
UTSW |
8 |
96,010,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9375:Cngb1
|
UTSW |
8 |
96,026,350 (GRCm39) |
missense |
unknown |
|
|
R9773:Cngb1
|
UTSW |
8 |
95,975,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF010:Cngb1
|
UTSW |
8 |
96,030,278 (GRCm39) |
frame shift |
probably null |
|
|
RF053:Cngb1
|
UTSW |
8 |
96,030,276 (GRCm39) |
frame shift |
probably null |
|
|
T0722:Cngb1
|
UTSW |
8 |
96,024,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
T0722:Cngb1
|
UTSW |
8 |
96,023,278 (GRCm39) |
missense |
probably benign |
0.02 |
|
T0722:Cngb1
|
UTSW |
8 |
96,030,342 (GRCm39) |
unclassified |
probably benign |
|
|
T0722:Cngb1
|
UTSW |
8 |
96,030,324 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Cngb1
|
UTSW |
8 |
95,978,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGTTTCTACAAGCCTGTG -3'
(R):5'- TCTGGGTTTCAGGCCAAGAG -3'
Sequencing Primer
(F):5'- CGTTTCTACAAGCCTGTGAGAAG -3'
(R):5'- TTTCAGGCCAAGAGCTCGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation