Incidental Mutation 'R4585:Cngb1'
| ID |
344022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
041806-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4585 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 96023756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093268]
[ENSMUST00000119870]
[ENSMUST00000133716]
[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: 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: ENSMUST00000156514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184621
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212237
|
| Meta Mutation Damage Score |
0.9207 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (90/91) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
C |
5: 4,026,151 (GRCm39) |
S1269P |
probably benign |
Het |
| Akr7a5 |
G |
T |
4: 139,038,238 (GRCm39) |
R58L |
probably benign |
Het |
| Art2a |
A |
T |
7: 101,203,956 (GRCm39) |
L194* |
probably null |
Het |
| Aurkaip1 |
C |
A |
4: 155,917,091 (GRCm39) |
A113D |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 107,987,662 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,221,953 (GRCm39) |
D123A |
possibly damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,837,401 (GRCm39) |
T131A |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,730,766 (GRCm39) |
S548P |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,103,338 (GRCm39) |
Q224R |
probably damaging |
Het |
| Cic |
A |
T |
7: 24,972,203 (GRCm39) |
I645L |
probably benign |
Het |
| Col13a1 |
T |
C |
10: 61,723,024 (GRCm39) |
|
probably null |
Het |
| Corin |
A |
T |
5: 72,487,042 (GRCm39) |
V706D |
probably damaging |
Het |
| Crebrf |
A |
G |
17: 26,981,229 (GRCm39) |
K535R |
probably damaging |
Het |
| Cuzd1 |
G |
A |
7: 130,916,529 (GRCm39) |
P310L |
probably damaging |
Het |
| Cxcr5 |
T |
A |
9: 44,425,442 (GRCm39) |
I72F |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,644,932 (GRCm39) |
Q148R |
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,918,924 (GRCm39) |
S499R |
probably benign |
Het |
| Defb3 |
A |
T |
8: 19,345,172 (GRCm39) |
I43F |
possibly damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,777,999 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,970,541 (GRCm39) |
D2684G |
probably benign |
Het |
| Dnajc10 |
T |
G |
2: 80,178,122 (GRCm39) |
F710V |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,901,725 (GRCm39) |
T464I |
probably damaging |
Het |
| Epc1 |
G |
A |
18: 6,441,157 (GRCm39) |
Q14* |
probably null |
Het |
| Eral1 |
A |
T |
11: 77,969,130 (GRCm39) |
N123K |
probably damaging |
Het |
| Ercc5 |
G |
A |
1: 44,198,017 (GRCm39) |
V145I |
probably benign |
Het |
| Evc |
A |
G |
5: 37,481,057 (GRCm39) |
S263P |
probably damaging |
Het |
| Fancc |
A |
T |
13: 63,495,378 (GRCm39) |
M182K |
probably benign |
Het |
| Fbxl3 |
G |
T |
14: 103,320,526 (GRCm39) |
A355E |
probably damaging |
Het |
| Glra3 |
C |
A |
8: 56,542,028 (GRCm39) |
T257K |
probably damaging |
Het |
| Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Gm14393 |
C |
A |
2: 174,904,497 (GRCm39) |
|
probably benign |
Het |
| Gm19965 |
T |
A |
1: 116,749,508 (GRCm39) |
N396K |
probably benign |
Het |
| Gm27013 |
A |
T |
6: 130,498,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1 |
A |
G |
6: 86,699,605 (GRCm39) |
S141P |
probably damaging |
Het |
| Gsdmd |
T |
A |
15: 75,737,600 (GRCm39) |
|
probably null |
Het |
| Gtf2a1 |
C |
T |
12: 91,529,700 (GRCm39) |
V338I |
possibly damaging |
Het |
| H2ac15 |
T |
C |
13: 21,937,882 (GRCm39) |
N39S |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
| Ints2 |
G |
T |
11: 86,140,101 (GRCm39) |
R244S |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,884,151 (GRCm39) |
V945A |
probably damaging |
Het |
| Itih2 |
C |
T |
2: 10,115,211 (GRCm39) |
S387N |
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,207,120 (GRCm39) |
D163V |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,038,882 (GRCm39) |
S324P |
probably damaging |
Het |
| Lrrc24 |
C |
A |
15: 76,607,889 (GRCm39) |
R43L |
probably damaging |
Het |
| Mogs |
G |
T |
6: 83,095,619 (GRCm39) |
R812L |
possibly damaging |
Het |
| Mroh5 |
T |
A |
15: 73,661,120 (GRCm39) |
T467S |
probably benign |
Het |
| Mtap |
G |
A |
4: 89,090,511 (GRCm39) |
V194I |
probably benign |
Het |
| Myoz1 |
A |
G |
14: 20,700,663 (GRCm39) |
W185R |
probably damaging |
Het |
| Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
| Obox1 |
A |
T |
7: 15,290,152 (GRCm39) |
N165I |
possibly damaging |
Het |
| Or1j1 |
C |
T |
2: 36,702,537 (GRCm39) |
C189Y |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,968,558 (GRCm39) |
E308D |
probably benign |
Het |
| Or4c113 |
T |
G |
2: 88,885,498 (GRCm39) |
I91L |
possibly damaging |
Het |
| Or6c35 |
A |
G |
10: 129,169,142 (GRCm39) |
T131A |
probably benign |
Het |
| Pabpc6 |
A |
G |
17: 9,888,002 (GRCm39) |
L183P |
probably damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,460,116 (GRCm39) |
R1355W |
probably damaging |
Het |
| Pcdhgb8 |
C |
A |
18: 37,895,413 (GRCm39) |
A161E |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,683,885 (GRCm39) |
Y1127C |
probably damaging |
Het |
| Phc2 |
A |
T |
4: 128,637,303 (GRCm39) |
H563L |
probably damaging |
Het |
| Plekha2 |
C |
A |
8: 25,533,685 (GRCm39) |
E291* |
probably null |
Het |
| Qser1 |
C |
A |
2: 104,617,138 (GRCm39) |
V1225L |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,156,944 (GRCm39) |
D1882E |
probably damaging |
Het |
| Rgs17 |
T |
C |
10: 5,792,596 (GRCm39) |
D70G |
probably benign |
Het |
| Runx1t1 |
A |
T |
4: 13,889,864 (GRCm39) |
T598S |
unknown |
Het |
| Scn2a |
T |
A |
2: 65,573,395 (GRCm39) |
|
probably null |
Het |
| Serpinb10 |
T |
A |
1: 107,474,779 (GRCm39) |
C314S |
probably benign |
Het |
| Setbp1 |
A |
C |
18: 79,130,164 (GRCm39) |
S23A |
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,346,479 (GRCm39) |
D116G |
possibly damaging |
Het |
| Slc4a1 |
G |
T |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,351,491 (GRCm39) |
L155P |
probably damaging |
Het |
| Sox2 |
A |
G |
3: 34,705,193 (GRCm39) |
N210S |
probably benign |
Het |
| Spag6 |
T |
C |
2: 18,736,958 (GRCm39) |
|
probably null |
Het |
| Speer4b |
A |
T |
5: 27,703,036 (GRCm39) |
L154Q |
probably null |
Het |
| Strn3 |
T |
A |
12: 51,696,953 (GRCm39) |
E259D |
probably benign |
Het |
| Tenm1 |
G |
A |
X: 41,626,856 (GRCm39) |
Q1931* |
probably null |
Het |
| Trp53bp1 |
C |
G |
2: 121,038,432 (GRCm39) |
G1469R |
probably damaging |
Het |
| Ttc8 |
C |
A |
12: 98,948,789 (GRCm39) |
Q492K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,798,747 (GRCm39) |
H509R |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,564,050 (GRCm39) |
H1270L |
probably benign |
Het |
| Vopp1 |
G |
A |
6: 57,731,533 (GRCm39) |
P153S |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,809,912 (GRCm39) |
I1770F |
possibly damaging |
Het |
| Zfp14 |
G |
T |
7: 29,738,341 (GRCm39) |
Q215K |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,382,376 (GRCm39) |
Y651* |
probably null |
Het |
| Zfp735 |
G |
T |
11: 73,580,550 (GRCm39) |
E16D |
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 |
|
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'- TAGCAAGGCCTGAACTCTCC -3'
(R):5'- CTTCATGGGAGGAGTGACTGAC -3'
Sequencing Primer
(F):5'- AAGGCCTGAACTCTCCCAGTG -3'
(R):5'- CTGACCAAGGTGGGTATA -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation