Incidental Mutation 'R6377:Cngb1'
| ID |
515056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
044527-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6377 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 95975608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 629
(G629C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119870]
[ENSMUST00000120044]
[ENSMUST00000121162]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119870
AA Change: G1088C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: G1088C
| 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: ENSMUST00000120044
AA Change: G629C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: G629C
| 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 damaging
Transcript: ENSMUST00000121162
AA Change: G629C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: G629C
| 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 |
0.4841 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
94% (59/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankib1 |
A |
G |
5: 3,743,855 (GRCm39) |
S812P |
possibly damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,453,093 (GRCm39) |
E159G |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,821,889 (GRCm39) |
I861V |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,741,717 (GRCm39) |
V1053A |
possibly damaging |
Het |
| Cntn5 |
A |
T |
9: 9,743,657 (GRCm39) |
F540Y |
probably damaging |
Het |
| Cpb1 |
A |
C |
3: 20,329,748 (GRCm39) |
|
probably null |
Het |
| Cyp4a14 |
A |
G |
4: 115,353,280 (GRCm39) |
Y11H |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
| Dcstamp |
A |
T |
15: 39,618,317 (GRCm39) |
Y242F |
probably benign |
Het |
| Drd3 |
G |
T |
16: 43,641,670 (GRCm39) |
G329* |
probably null |
Het |
| Duxf1 |
T |
C |
10: 58,059,494 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
A |
6: 83,985,945 (GRCm39) |
S17T |
probably benign |
Het |
| Eno1 |
A |
T |
4: 150,333,009 (GRCm39) |
K366N |
possibly damaging |
Het |
| Ffar2 |
C |
T |
7: 30,518,971 (GRCm39) |
V190I |
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,242,429 (GRCm39) |
T508A |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,988,567 (GRCm39) |
V1165A |
unknown |
Het |
| Foxj3 |
A |
T |
4: 119,430,945 (GRCm39) |
|
probably null |
Het |
| Gabarap |
T |
C |
11: 69,882,630 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
T |
A |
8: 36,270,736 (GRCm39) |
L1221* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Igf1r |
A |
T |
7: 67,850,998 (GRCm39) |
Y931F |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,636 (GRCm39) |
S565T |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,717,995 (GRCm39) |
Y209* |
probably null |
Het |
| Jph2 |
C |
T |
2: 163,181,632 (GRCm39) |
G511R |
probably benign |
Het |
| Khdrbs1 |
C |
A |
4: 129,635,890 (GRCm39) |
D22Y |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,212,562 (GRCm39) |
L754Q |
probably damaging |
Het |
| Ksr1 |
C |
T |
11: 78,927,320 (GRCm39) |
|
probably null |
Het |
| L3mbtl4 |
G |
T |
17: 69,084,918 (GRCm39) |
V610F |
probably benign |
Het |
| Lars2 |
A |
G |
9: 123,283,825 (GRCm39) |
T698A |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,928,961 (GRCm39) |
V267A |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,468,128 (GRCm39) |
D925E |
probably damaging |
Het |
| Lsg1 |
A |
G |
16: 30,393,386 (GRCm39) |
L187P |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,298,050 (GRCm39) |
V2328E |
possibly damaging |
Het |
| Mlh3 |
A |
G |
12: 85,315,271 (GRCm39) |
I305T |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,421,016 (GRCm39) |
M1V |
probably null |
Het |
| Myadml2 |
C |
A |
11: 120,538,538 (GRCm39) |
C99F |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,150,703 (GRCm39) |
Y185C |
probably damaging |
Het |
| Ndufaf7 |
A |
T |
17: 79,250,739 (GRCm39) |
Q222L |
probably null |
Het |
| Nlrp4b |
A |
T |
7: 10,449,339 (GRCm39) |
Y147F |
probably benign |
Het |
| Or4c11c |
C |
T |
2: 88,661,613 (GRCm39) |
R51* |
probably null |
Het |
| Pet100 |
T |
C |
8: 3,672,370 (GRCm39) |
V15A |
probably benign |
Het |
| Pot1a |
A |
G |
6: 25,778,869 (GRCm39) |
V75A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,725,935 (GRCm39) |
M1043K |
probably damaging |
Het |
| Rnf31 |
A |
G |
14: 55,832,984 (GRCm39) |
T413A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,287,635 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,462,530 (GRCm39) |
C4839S |
probably damaging |
Het |
| Scai |
A |
C |
2: 38,992,340 (GRCm39) |
D379E |
probably benign |
Het |
| Scd2 |
G |
T |
19: 44,288,198 (GRCm39) |
G197* |
probably null |
Het |
| Sdr39u1 |
A |
C |
14: 56,135,166 (GRCm39) |
I259S |
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,187,906 (GRCm39) |
|
probably null |
Het |
| Sp1 |
A |
T |
15: 102,339,318 (GRCm39) |
T733S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,255,051 (GRCm39) |
S1711P |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,124,975 (GRCm39) |
W240L |
probably damaging |
Het |
| Trarg1 |
T |
C |
11: 76,571,355 (GRCm39) |
S124P |
probably damaging |
Het |
| Trim50 |
A |
G |
5: 135,382,454 (GRCm39) |
K102R |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,619,827 (GRCm39) |
Y278H |
probably damaging |
Het |
| Vinac1 |
T |
A |
2: 128,878,731 (GRCm39) |
D1065V |
unknown |
Het |
| Vmn2r109 |
A |
C |
17: 20,784,796 (GRCm39) |
|
probably null |
Het |
| Zbed5 |
T |
C |
5: 129,932,210 (GRCm39) |
S720P |
possibly damaging |
Het |
| Zc3h3 |
A |
G |
15: 75,711,304 (GRCm39) |
S386P |
probably damaging |
Het |
| Zscan4-ps1 |
C |
T |
7: 10,802,418 (GRCm39) |
|
probably null |
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 |
|
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'- AACTGGAACTACGGGTGTGTG -3'
(R):5'- CTCACTCGGTGTGGATCATG -3'
Sequencing Primer
(F):5'- ACTACGGGTGTGTGCCAGC -3'
(R):5'- TGTGGATCATGGGTAGTAGTACAAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation