Incidental Mutation 'R6370:Cngb1'
| ID |
513476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
044520-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6370 (G1)
|
| Quality Score |
147.008 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95991050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 717
(M717I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119870]
[ENSMUST00000120044]
[ENSMUST00000121162]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119870
AA Change: M717I
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: M717I
| 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: ENSMUST00000120044
AA Change: M258I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: M258I
| 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 |
probably benign
Transcript: ENSMUST00000121162
AA Change: M258I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: M258I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
95% (54/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb6 |
A |
G |
2: 30,717,024 (GRCm39) |
V67A |
probably damaging |
Het |
| Atic |
T |
A |
1: 71,617,819 (GRCm39) |
F590I |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,277,586 (GRCm39) |
F351S |
probably damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,583 (GRCm39) |
N92S |
probably benign |
Het |
| Carm1 |
G |
T |
9: 21,498,815 (GRCm39) |
A518S |
probably benign |
Het |
| Ccar1 |
C |
T |
10: 62,600,308 (GRCm39) |
R541H |
probably damaging |
Het |
| Cfhr2 |
A |
T |
1: 139,750,065 (GRCm39) |
L96Q |
probably damaging |
Het |
| Chrnb4 |
A |
G |
9: 54,942,143 (GRCm39) |
L377S |
probably benign |
Het |
| Clcn3 |
A |
G |
8: 61,376,058 (GRCm39) |
Y639H |
probably damaging |
Het |
| Ctcf |
T |
C |
8: 106,390,852 (GRCm39) |
M153T |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,783 (GRCm39) |
S222P |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,593,523 (GRCm39) |
|
probably null |
Het |
| Entpd2 |
G |
A |
2: 25,287,429 (GRCm39) |
G47S |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,405,943 (GRCm39) |
M1158T |
possibly damaging |
Het |
| Faah |
T |
C |
4: 115,860,253 (GRCm39) |
D333G |
probably damaging |
Het |
| Foxred2 |
T |
A |
15: 77,827,506 (GRCm39) |
T618S |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gpx5 |
A |
T |
13: 21,472,872 (GRCm39) |
|
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,646,334 (GRCm39) |
V98A |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,333,368 (GRCm39) |
I312T |
probably damaging |
Het |
| Krtap21-1 |
T |
C |
16: 89,200,519 (GRCm39) |
Y41C |
unknown |
Het |
| Larp6 |
A |
G |
9: 60,644,646 (GRCm39) |
E262G |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,546,185 (GRCm39) |
Y661C |
probably damaging |
Het |
| Lsm14a |
A |
G |
7: 34,056,906 (GRCm39) |
V244A |
probably benign |
Het |
| Mfrp |
T |
C |
9: 44,017,558 (GRCm39) |
C517R |
probably damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,527,689 (GRCm39) |
D257G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,907,825 (GRCm39) |
S1145P |
probably benign |
Het |
| Nosip |
G |
T |
7: 44,726,164 (GRCm39) |
|
probably null |
Het |
| Or4c100 |
T |
A |
2: 88,329,712 (GRCm39) |
C94* |
probably null |
Het |
| Or51f2 |
A |
T |
7: 102,526,377 (GRCm39) |
T17S |
probably benign |
Het |
| Or52n1 |
T |
C |
7: 104,383,124 (GRCm39) |
K149R |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,477,543 (GRCm39) |
S112P |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,922,987 (GRCm39) |
I1015K |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,155,973 (GRCm39) |
W818R |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,293 (GRCm39) |
M558K |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,367,904 (GRCm39) |
N4647K |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Rxrg |
T |
C |
1: 167,462,006 (GRCm39) |
V227A |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,825 (GRCm39) |
S341T |
possibly damaging |
Het |
| Skint5 |
T |
G |
4: 113,471,307 (GRCm39) |
Q983P |
unknown |
Het |
| Slc6a18 |
G |
A |
13: 73,816,278 (GRCm39) |
T367I |
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,277,483 (GRCm39) |
L344P |
probably damaging |
Het |
| Slc7a6 |
T |
A |
8: 106,922,069 (GRCm39) |
F399I |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sugt1 |
T |
C |
14: 79,847,774 (GRCm39) |
V208A |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,045,107 (GRCm39) |
K480E |
probably damaging |
Het |
| Thop1 |
C |
T |
10: 80,913,817 (GRCm39) |
T186I |
probably benign |
Het |
| Trim55 |
G |
A |
3: 19,745,650 (GRCm39) |
E509K |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,821 (GRCm39) |
N469S |
unknown |
Het |
| Usp24 |
G |
T |
4: 106,237,718 (GRCm39) |
K1125N |
probably null |
Het |
| Usp5 |
A |
T |
6: 124,797,391 (GRCm39) |
D494E |
probably benign |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,143 (GRCm39) |
K481R |
probably damaging |
Het |
| Vps16 |
C |
A |
2: 130,285,304 (GRCm39) |
A787D |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,407,226 (GRCm39) |
H488Y |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,790,807 (GRCm39) |
A2053S |
probably benign |
Het |
| Zfp74 |
A |
T |
7: 29,631,835 (GRCm39) |
D136E |
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 |
|
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 |
|
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'- AGGGTAGCTCACATTCTTCAGTG -3'
(R):5'- CTCTGTGGGTAGGACTCTTTCC -3'
Sequencing Primer
(F):5'- AGATGGCCTATGTTCCTAGTCAG -3'
(R):5'- GGACTCTTTCCCTAGCCTCAGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation