Incidental Mutation 'R7012:Cngb1'
| ID |
545078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
045113-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7012 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95984583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 868
(I868F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119870]
[ENSMUST00000120044]
[ENSMUST00000121162]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119870
AA Change: I868F
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: I868F
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: I409F
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: I409F
| 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 |
|
| Meta Mutation Damage Score |
0.4905 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,431 (GRCm39) |
F686L |
probably benign |
Het |
| Adcy4 |
C |
T |
14: 56,017,376 (GRCm39) |
V266I |
possibly damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,401,750 (GRCm39) |
T249A |
probably damaging |
Het |
| Adss1 |
A |
G |
12: 112,600,670 (GRCm39) |
D213G |
probably benign |
Het |
| Ap1b1 |
T |
G |
11: 4,980,963 (GRCm39) |
V453G |
probably damaging |
Het |
| Apold1 |
G |
A |
6: 134,961,007 (GRCm39) |
G154R |
probably damaging |
Het |
| Birc5 |
A |
G |
11: 117,740,262 (GRCm39) |
E29G |
probably benign |
Het |
| Clcn1 |
G |
A |
6: 42,267,542 (GRCm39) |
R75H |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,703,223 (GRCm39) |
V215E |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,450,511 (GRCm39) |
I140N |
possibly damaging |
Het |
| Cops5 |
A |
G |
1: 10,100,890 (GRCm39) |
*147Q |
probably null |
Het |
| Dbr1 |
T |
A |
9: 99,465,374 (GRCm39) |
Y317* |
probably null |
Het |
| Dock5 |
A |
C |
14: 68,060,035 (GRCm39) |
V468G |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,444,096 (GRCm39) |
I477V |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Git1 |
T |
C |
11: 77,390,606 (GRCm39) |
L114P |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,529,707 (GRCm39) |
|
probably null |
Het |
| Itih4 |
A |
G |
14: 30,612,706 (GRCm39) |
N244S |
probably benign |
Het |
| Lin28a |
A |
G |
4: 133,746,040 (GRCm39) |
S5P |
probably damaging |
Het |
| Lipt1 |
T |
C |
1: 37,915,060 (GRCm39) |
I372T |
probably benign |
Het |
| Lysmd4 |
A |
G |
7: 66,875,765 (GRCm39) |
T143A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,406,914 (GRCm39) |
|
probably null |
Het |
| Or13c9 |
A |
G |
4: 52,936,193 (GRCm39) |
L30P |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,823 (GRCm39) |
M283L |
probably benign |
Het |
| Or5t16 |
A |
T |
2: 86,819,051 (GRCm39) |
H156Q |
possibly damaging |
Het |
| Or6e1 |
A |
G |
14: 54,519,674 (GRCm39) |
I226T |
possibly damaging |
Het |
| Pclo |
G |
A |
5: 14,800,493 (GRCm39) |
G4438D |
unknown |
Het |
| Phlpp2 |
T |
A |
8: 110,603,486 (GRCm39) |
F51I |
possibly damaging |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 150,004,659 (GRCm39) |
V711A |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,905,352 (GRCm39) |
|
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,376,751 (GRCm39) |
S189T |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,868,621 (GRCm39) |
N965S |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 85,992,320 (GRCm39) |
N116S |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,777,313 (GRCm39) |
Y221H |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,032,287 (GRCm39) |
I613V |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,295,871 (GRCm39) |
|
probably null |
Het |
| Ston1 |
T |
C |
17: 88,943,413 (GRCm39) |
M273T |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,100,820 (GRCm39) |
Y53N |
probably damaging |
Het |
| Tmem132b |
T |
A |
5: 125,775,654 (GRCm39) |
L376Q |
probably damaging |
Het |
| Trim60 |
A |
G |
8: 65,453,043 (GRCm39) |
V402A |
possibly damaging |
Het |
| Tssk5 |
A |
C |
15: 76,257,745 (GRCm39) |
N178K |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,844,982 (GRCm39) |
I450T |
possibly damaging |
Het |
| Tyw1 |
T |
G |
5: 130,306,571 (GRCm39) |
|
probably null |
Het |
| Usp16 |
T |
C |
16: 87,255,632 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,756 (GRCm39) |
V670A |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,286,530 (GRCm39) |
N343D |
probably benign |
Het |
| Zfp472 |
T |
G |
17: 33,196,220 (GRCm39) |
N98K |
probably benign |
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 |
|
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'- GGCAACGCAATAGCCATAGGAC -3'
(R):5'- TGGCTGAGACTGGTTATCCAC -3'
Sequencing Primer
(F):5'- GCAATAGCCATAGGACACCTTTCTAG -3'
(R):5'- CACTGATTGGATAACTGGCTGGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation