Incidental Mutation 'R2045:Cngb1'
| ID |
221835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
040052-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2045 (G1)
|
| Quality Score |
123 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 96023713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093268]
[ENSMUST00000093268]
[ENSMUST00000119870]
[ENSMUST00000133716]
[ENSMUST00000134207]
[ENSMUST00000134207]
[ENSMUST00000156514]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093268
|
| SMART Domains |
Protein: ENSMUSP00000090956
Gene: ENSMUSG00000031789
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000093268
|
| SMART Domains |
Protein: ENSMUSP00000090956
Gene: ENSMUSG00000031789
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119870
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
| 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 |
probably benign
Transcript: ENSMUST00000133716
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134207
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134207
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184621
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212237
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212237
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (74/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
C |
T |
19: 34,220,799 (GRCm39) |
G303E |
probably damaging |
Het |
| Adamts1 |
A |
T |
16: 85,592,864 (GRCm39) |
Y515N |
probably damaging |
Het |
| Ankef1 |
T |
C |
2: 136,396,658 (GRCm39) |
V695A |
probably benign |
Het |
| Ankrd63 |
C |
A |
2: 118,533,834 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
| Atf2 |
A |
C |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
| Atp5pb |
T |
C |
3: 105,851,190 (GRCm39) |
|
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bms1 |
A |
C |
6: 118,369,588 (GRCm39) |
L960W |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,633,098 (GRCm39) |
V977A |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,839,121 (GRCm39) |
S6P |
possibly damaging |
Het |
| Capn8 |
A |
G |
1: 182,440,951 (GRCm39) |
T462A |
probably benign |
Het |
| Cd226 |
T |
C |
18: 89,225,486 (GRCm39) |
S128P |
probably benign |
Het |
| Cd33 |
G |
T |
7: 43,179,316 (GRCm39) |
H278N |
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,392,814 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,874,671 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
G |
1: 134,078,882 (GRCm39) |
I397M |
probably benign |
Het |
| Cic |
C |
A |
7: 24,970,961 (GRCm39) |
Q231K |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,630,924 (GRCm39) |
V312A |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,140,616 (GRCm39) |
I430V |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,503,485 (GRCm39) |
E1613G |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,244,106 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,160,171 (GRCm39) |
F646I |
probably damaging |
Het |
| Eef1b2 |
A |
T |
1: 63,218,646 (GRCm39) |
K144* |
probably null |
Het |
| Erap1 |
T |
C |
13: 74,817,569 (GRCm39) |
V137A |
probably benign |
Het |
| Far1 |
A |
T |
7: 113,138,478 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,223,730 (GRCm39) |
C807S |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,048,231 (GRCm39) |
K209R |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
T |
3: 53,443,165 (GRCm39) |
V2533D |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,138,794 (GRCm39) |
M839T |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,891,310 (GRCm39) |
S303G |
probably benign |
Het |
| Insyn2a |
T |
G |
7: 134,520,159 (GRCm39) |
K124Q |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
T |
G |
11: 104,514,239 (GRCm39) |
S27A |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,088,051 (GRCm39) |
D1015N |
probably damaging |
Het |
| Krt7 |
A |
T |
15: 101,321,365 (GRCm39) |
|
probably null |
Het |
| Krtdap |
T |
A |
7: 30,490,010 (GRCm39) |
F80L |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,437,841 (GRCm39) |
T84S |
probably benign |
Het |
| Lipi |
G |
A |
16: 75,347,087 (GRCm39) |
T444I |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,048,003 (GRCm39) |
E316V |
probably damaging |
Het |
| Lypd1 |
G |
A |
1: 125,838,272 (GRCm39) |
|
probably benign |
Het |
| Med12l |
A |
T |
3: 59,169,731 (GRCm39) |
K1632* |
probably null |
Het |
| Mrgpra9 |
A |
T |
7: 46,885,583 (GRCm39) |
M28K |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,774,023 (GRCm39) |
K1291E |
probably benign |
Het |
| Nek4 |
T |
A |
14: 30,675,880 (GRCm39) |
W72R |
probably damaging |
Het |
| Nudt8 |
T |
C |
19: 4,051,899 (GRCm39) |
V170A |
probably damaging |
Het |
| Oosp3 |
T |
A |
19: 11,676,733 (GRCm39) |
Y31N |
probably benign |
Het |
| Padi2 |
A |
T |
4: 140,665,241 (GRCm39) |
R449W |
probably damaging |
Het |
| Pcf11 |
G |
T |
7: 92,311,087 (GRCm39) |
N300K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,558,508 (GRCm39) |
D633G |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,634,232 (GRCm39) |
W271R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,512 (GRCm39) |
V1276A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,343,050 (GRCm39) |
N176Y |
probably damaging |
Het |
| Pop5 |
T |
G |
5: 115,376,271 (GRCm39) |
V33G |
possibly damaging |
Het |
| Prkag2 |
A |
G |
5: 25,152,580 (GRCm39) |
F175L |
possibly damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,781,337 (GRCm39) |
D79E |
possibly damaging |
Het |
| Rab32 |
T |
G |
10: 10,426,577 (GRCm39) |
D123A |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,402,009 (GRCm39) |
K513E |
possibly damaging |
Het |
| Senp1 |
A |
T |
15: 97,957,825 (GRCm39) |
F358I |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,012,647 (GRCm39) |
L83P |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,400,613 (GRCm39) |
R741H |
probably damaging |
Het |
| Smad4 |
A |
T |
18: 73,782,877 (GRCm39) |
Y352* |
probably null |
Het |
| Tamm41 |
T |
A |
6: 114,993,056 (GRCm39) |
Q232H |
probably benign |
Het |
| Tbx6 |
T |
A |
7: 126,382,055 (GRCm39) |
L131Q |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,045,313 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,034,964 (GRCm39) |
A108S |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,948,470 (GRCm39) |
Y215C |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,091,266 (GRCm39) |
V31M |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,258,177 (GRCm39) |
M1525T |
possibly damaging |
Het |
| Vax2 |
G |
A |
6: 83,688,252 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,839,104 (GRCm39) |
I2147L |
probably benign |
Het |
| Zbtb7a |
C |
A |
10: 80,980,244 (GRCm39) |
A146E |
probably benign |
Het |
| Zfp287 |
A |
G |
11: 62,618,395 (GRCm39) |
L157P |
probably 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 |
|
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 |
|
|
R9745:Cngb1
|
UTSW |
8 |
95,967,919 (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'- GACTGAAGCCACTTGGAGTC -3'
(R):5'- CCACCAGCTCCACGTATATGTG -3'
Sequencing Primer
(F):5'- TGTCTTAGCAAGGCCTGAAC -3'
(R):5'- AGCTCCACGTATATGTGTATGCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation