Incidental Mutation 'R1939:Cngb1'
| ID |
213816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
039957-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1939 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96026320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 154
(G154W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093268]
[ENSMUST00000119870]
[ENSMUST00000133716]
[ENSMUST00000134207]
[ENSMUST00000156514]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093268
AA Change: G154W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090956
Gene: ENSMUSG00000031789
AA Change: G154W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000119870
AA Change: G154W
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: G154W
| 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 damaging
Transcript: ENSMUST00000133716
AA Change: G154W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134207
AA Change: G154W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156514
AA Change: G154W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212237
AA Change: G33W
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.6%
- 20x: 93.2%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
T |
A |
11: 83,331,130 (GRCm39) |
W11R |
probably damaging |
Het |
| 2700049A03Rik |
A |
G |
12: 71,207,186 (GRCm39) |
|
probably null |
Het |
| 4933409G03Rik |
T |
C |
2: 68,419,328 (GRCm39) |
S26P |
possibly damaging |
Het |
| Ace2 |
A |
T |
X: 162,939,524 (GRCm39) |
M123L |
possibly damaging |
Het |
| Acot3 |
A |
G |
12: 84,105,325 (GRCm39) |
N264S |
probably benign |
Het |
| Acvr1c |
A |
T |
2: 58,173,517 (GRCm39) |
N248K |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,380,015 (GRCm39) |
F94L |
probably damaging |
Het |
| Adarb2 |
T |
C |
13: 8,253,358 (GRCm39) |
|
probably null |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,755 (GRCm39) |
M98V |
possibly damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,715,548 (GRCm39) |
V1331D |
probably damaging |
Het |
| Atf2 |
G |
A |
2: 73,676,563 (GRCm39) |
P184S |
probably damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,361,220 (GRCm39) |
C785* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,977,332 (GRCm39) |
S4362P |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,731,077 (GRCm39) |
F712S |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,455,245 (GRCm39) |
C39R |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,895,073 (GRCm39) |
H115R |
probably benign |
Het |
| Col23a1 |
A |
G |
11: 51,442,816 (GRCm39) |
D159G |
unknown |
Het |
| Coro7 |
T |
C |
16: 4,446,596 (GRCm39) |
E843G |
probably benign |
Het |
| Dnase2a |
G |
T |
8: 85,637,524 (GRCm39) |
A309S |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,139,159 (GRCm39) |
|
probably null |
Het |
| Engase |
T |
A |
11: 118,370,012 (GRCm39) |
N97K |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,400,362 (GRCm39) |
M247K |
probably damaging |
Het |
| Fer |
T |
C |
17: 64,280,123 (GRCm39) |
S65P |
probably damaging |
Het |
| Fgf10 |
A |
G |
13: 118,925,688 (GRCm39) |
R156G |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm904 |
T |
C |
13: 50,798,772 (GRCm39) |
|
probably null |
Het |
| Gpat2 |
T |
A |
2: 127,277,879 (GRCm39) |
*802K |
probably null |
Het |
| Hcfc2 |
G |
T |
10: 82,538,284 (GRCm39) |
R107L |
probably damaging |
Het |
| Itga8 |
T |
G |
2: 12,305,657 (GRCm39) |
D111A |
probably damaging |
Het |
| Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Lgals8 |
T |
G |
13: 12,474,069 (GRCm39) |
I10L |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,587,601 (GRCm39) |
S116P |
unknown |
Het |
| Mcpt1 |
A |
T |
14: 56,256,546 (GRCm39) |
K94I |
possibly damaging |
Het |
| Mpnd |
T |
C |
17: 56,322,920 (GRCm39) |
F384S |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,686 (GRCm39) |
N16K |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,778,529 (GRCm39) |
T1139A |
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,801 (GRCm39) |
I53R |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,393,636 (GRCm39) |
L1034Q |
probably damaging |
Het |
| Nudt6 |
T |
C |
3: 37,459,379 (GRCm39) |
Y54C |
probably damaging |
Het |
| Or10j3b |
G |
T |
1: 173,043,499 (GRCm39) |
A94S |
probably benign |
Het |
| Or5p58 |
A |
G |
7: 107,694,348 (GRCm39) |
V143A |
probably benign |
Het |
| Or6c217 |
A |
C |
10: 129,737,970 (GRCm39) |
M203R |
probably damaging |
Het |
| Or8b35 |
A |
G |
9: 37,904,385 (GRCm39) |
N199S |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,725 (GRCm39) |
Y72* |
probably null |
Het |
| Osbpl8 |
A |
T |
10: 111,125,672 (GRCm39) |
H784L |
probably benign |
Het |
| Osr1 |
T |
G |
12: 9,629,687 (GRCm39) |
S187A |
probably damaging |
Het |
| Pcdhgc5 |
A |
G |
18: 37,955,003 (GRCm39) |
Y759C |
probably damaging |
Het |
| Pkd1l2 |
G |
T |
8: 117,772,921 (GRCm39) |
Y1035* |
probably null |
Het |
| Pla2g15 |
A |
G |
8: 106,889,927 (GRCm39) |
T400A |
probably damaging |
Het |
| Pms1 |
A |
C |
1: 53,236,135 (GRCm39) |
L715R |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,441,777 (GRCm39) |
N254S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,653,777 (GRCm39) |
V3868A |
possibly damaging |
Het |
| Ptprt |
T |
C |
2: 161,769,560 (GRCm39) |
N435S |
probably benign |
Het |
| Purb |
T |
C |
11: 6,424,943 (GRCm39) |
E315G |
unknown |
Het |
| Rap1b |
A |
T |
10: 117,654,491 (GRCm39) |
N116K |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,313,562 (GRCm39) |
L15P |
probably damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,267,042 (GRCm39) |
N876S |
probably benign |
Het |
| Rps6ka4 |
T |
A |
19: 6,816,834 (GRCm39) |
I114F |
probably damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,584,627 (GRCm39) |
I428V |
probably damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,708,963 (GRCm39) |
N19D |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,317 (GRCm39) |
M276V |
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,059,864 (GRCm39) |
T172A |
probably benign |
Het |
| Slc4a7 |
C |
T |
14: 14,748,581 (GRCm38) |
A320V |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,078,956 (GRCm39) |
Y113F |
probably damaging |
Het |
| Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
| St3gal6 |
A |
T |
16: 58,293,924 (GRCm39) |
|
probably null |
Het |
| Tdp2 |
A |
G |
13: 25,025,260 (GRCm39) |
D343G |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,899,603 (GRCm39) |
L657Q |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,194,399 (GRCm39) |
T12A |
possibly damaging |
Het |
| Trappc6a |
T |
A |
7: 19,248,426 (GRCm39) |
F28I |
probably damaging |
Het |
| Trim32 |
G |
A |
4: 65,532,303 (GRCm39) |
V287I |
probably benign |
Het |
| Trpd52l3 |
T |
C |
19: 29,981,289 (GRCm39) |
S15P |
probably damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,566,670 (GRCm39) |
I169V |
probably benign |
Het |
| Ttc34 |
G |
A |
4: 154,950,139 (GRCm39) |
A1031T |
possibly damaging |
Het |
| Ttll11 |
T |
A |
2: 35,830,765 (GRCm39) |
Q18L |
probably null |
Het |
| Ttll8 |
A |
T |
15: 88,799,689 (GRCm39) |
I584N |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,528,468 (GRCm39) |
L147P |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,871 (GRCm39) |
V171A |
probably benign |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,532 (GRCm39) |
I66N |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,852 (GRCm39) |
D41G |
possibly damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,305,976 (GRCm39) |
D393G |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,783,236 (GRCm39) |
R221* |
probably null |
Het |
| Zfp976 |
C |
A |
7: 42,263,105 (GRCm39) |
C244F |
unknown |
Het |
| Zmym5 |
A |
G |
14: 57,036,577 (GRCm39) |
V190A |
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 |
|
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 |
|
|
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'- CCCTGGAAAGACATTCTGCC -3'
(R):5'- GAGATAGTGGCTTGATCCATGTC -3'
Sequencing Primer
(F):5'- GGAAAGACATTCTGCCTCTTTG -3'
(R):5'- AGTGGCTTGATCCATGTCAAATCC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation