Incidental Mutation 'R8048:Cngb1'
| ID |
618884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
067485-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8048 (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 95989838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 758
(Y758F)
|
| 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: Y758F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: Y758F
| 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: Y299F
| 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: Y299F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,228,708 (GRCm39) |
L318F |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,618,316 (GRCm39) |
S2318R |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,052,883 (GRCm39) |
T443I |
probably benign |
Het |
| Arhgap29 |
C |
T |
3: 121,786,550 (GRCm39) |
R372W |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,516,208 (GRCm39) |
I1266T |
probably benign |
Het |
| Bsg |
T |
C |
10: 79,545,580 (GRCm39) |
V164A |
probably benign |
Het |
| C1qa |
G |
T |
4: 136,623,921 (GRCm39) |
S94R |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,838,862 (GRCm39) |
V92A |
probably benign |
Het |
| Ccdc187 |
T |
A |
2: 26,183,526 (GRCm39) |
D158V |
possibly damaging |
Het |
| Ddx4 |
G |
A |
13: 112,758,706 (GRCm39) |
A285V |
probably null |
Het |
| Dsg1c |
A |
T |
18: 20,407,824 (GRCm39) |
K390M |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,229,717 (GRCm39) |
F2437L |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Fam227a |
CATTGTCTTGA |
CA |
15: 79,533,959 (GRCm39) |
|
probably null |
Het |
| Fez2 |
T |
C |
17: 78,694,482 (GRCm39) |
I303V |
probably benign |
Het |
| Ffar1 |
A |
T |
7: 30,560,003 (GRCm39) |
I298N |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,685 (GRCm39) |
V228I |
probably benign |
Het |
| Igkv1-117 |
T |
G |
6: 68,098,786 (GRCm39) |
C112G |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
| Ivl |
T |
A |
3: 92,479,231 (GRCm39) |
K278M |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,862,230 (GRCm39) |
T2589A |
probably benign |
Het |
| Madd |
A |
T |
2: 90,984,793 (GRCm39) |
M1359K |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,600,779 (GRCm39) |
T1283A |
probably benign |
Het |
| Ncapd2 |
G |
T |
6: 125,156,661 (GRCm39) |
C439* |
probably null |
Het |
| Nebl |
T |
C |
2: 17,429,333 (GRCm39) |
D266G |
probably benign |
Het |
| Oas1f |
G |
T |
5: 120,985,602 (GRCm39) |
G49V |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,986,479 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,373 (GRCm39) |
L288P |
possibly damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,233 (GRCm39) |
I6V |
unknown |
Het |
| Or2n1 |
T |
C |
17: 38,486,419 (GRCm39) |
V148A |
probably benign |
Het |
| Or5an6 |
A |
G |
19: 12,371,719 (GRCm39) |
I31V |
not run |
Het |
| Or5j3 |
C |
T |
2: 86,128,672 (GRCm39) |
P171S |
probably benign |
Het |
| Or5m3 |
T |
G |
2: 85,838,524 (GRCm39) |
S135A |
probably damaging |
Het |
| Or5t18 |
T |
A |
2: 86,636,515 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or6b6 |
C |
T |
7: 106,571,671 (GRCm39) |
|
probably benign |
Het |
| Or8b52 |
C |
T |
9: 38,577,108 (GRCm39) |
E11K |
probably benign |
Het |
| Or8j3c |
T |
A |
2: 86,253,651 (GRCm39) |
Y123F |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,193,148 (GRCm39) |
V217E |
probably damaging |
Het |
| Pcdha2 |
T |
A |
18: 37,072,513 (GRCm39) |
I48N |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,120,991 (GRCm39) |
F1248L |
|
Het |
| Plekha2 |
A |
T |
8: 25,554,005 (GRCm39) |
|
probably benign |
Het |
| Plpp4 |
C |
T |
7: 128,981,201 (GRCm39) |
R151C |
unknown |
Het |
| Pramel14 |
T |
A |
4: 143,718,177 (GRCm39) |
Y422F |
probably benign |
Het |
| Prdm16 |
A |
G |
4: 154,405,339 (GRCm39) |
L1245P |
probably damaging |
Het |
| Prob1 |
G |
A |
18: 35,786,604 (GRCm39) |
A550V |
probably benign |
Het |
| Prok1 |
T |
C |
3: 107,144,408 (GRCm39) |
H65R |
probably benign |
Het |
| Ptcd1 |
A |
G |
5: 145,091,887 (GRCm39) |
V404A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,914,289 (GRCm39) |
E1631G |
probably benign |
Het |
| Sdad1 |
C |
A |
5: 92,447,948 (GRCm39) |
K262N |
probably benign |
Het |
| Sh3bp1 |
G |
T |
15: 78,794,272 (GRCm39) |
A547S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,675,333 (GRCm39) |
D227G |
probably benign |
Het |
| Tbx1 |
A |
G |
16: 18,406,769 (GRCm39) |
M1T |
probably null |
Het |
| Tespa1 |
T |
A |
10: 130,183,208 (GRCm39) |
V51D |
probably damaging |
Het |
| Tmc7 |
T |
C |
7: 118,165,468 (GRCm39) |
N82S |
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,689,476 (GRCm39) |
D290G |
possibly damaging |
Het |
| Trbv13-2 |
A |
T |
6: 41,098,493 (GRCm39) |
T23S |
probably damaging |
Het |
| Trib3 |
A |
T |
2: 152,180,553 (GRCm39) |
D213E |
probably damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,013,981 (GRCm39) |
V178A |
probably benign |
Het |
| Virma |
T |
A |
4: 11,539,918 (GRCm39) |
C1412* |
probably null |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,762 (GRCm39) |
T254A |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,882,137 (GRCm39) |
V1152A |
|
Het |
| Wdr47 |
T |
C |
3: 108,526,284 (GRCm39) |
V269A |
probably damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,561,977 (GRCm39) |
D676E |
unknown |
Het |
| Zc3h6 |
T |
A |
2: 128,858,934 (GRCm39) |
S988R |
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 |
|
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 |
|
|
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'- AGCATCAGAGGTCAGTCTCC -3'
(R):5'- CCACCTAGATGCACTGATCC -3'
Sequencing Primer
(F):5'- TCAGTCTCCTGAAGGCCCTG -3'
(R):5'- AGATGCACTGATCCACCTGTCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation