Incidental Mutation 'R4979:Cngb1'
| ID |
384675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
042574-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4979 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95985785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 858
(I858F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119870]
[ENSMUST00000120044]
[ENSMUST00000121162]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119870
AA Change: I858F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: I858F
| 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 |
possibly damaging
Transcript: ENSMUST00000120044
AA Change: I399F
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: I399F
| 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 |
possibly damaging
Transcript: ENSMUST00000121162
AA Change: I399F
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: I399F
| 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 |
0.2390 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
99% (79/80) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,220,643 (GRCm39) |
E381K |
probably damaging |
Het |
| Abca1 |
T |
C |
4: 53,085,092 (GRCm39) |
|
probably null |
Het |
| Abca7 |
C |
T |
10: 79,840,617 (GRCm39) |
Q870* |
probably null |
Het |
| Ambp |
C |
T |
4: 63,070,888 (GRCm39) |
V64M |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,622,212 (GRCm39) |
V1542A |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,287,797 (GRCm39) |
Y168C |
probably benign |
Het |
| Apoa4 |
T |
A |
9: 46,152,803 (GRCm39) |
N29K |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,283,334 (GRCm39) |
T192A |
probably damaging |
Het |
| Atad2b |
G |
T |
12: 5,084,513 (GRCm39) |
D1420Y |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,465,336 (GRCm39) |
W648R |
possibly damaging |
Het |
| Bank1 |
A |
G |
3: 135,960,662 (GRCm39) |
L198P |
probably damaging |
Het |
| Bicd2 |
A |
G |
13: 49,532,940 (GRCm39) |
K509E |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,289,739 (GRCm39) |
D1821G |
probably damaging |
Het |
| Ccdc80 |
G |
A |
16: 44,936,650 (GRCm39) |
V692M |
possibly damaging |
Het |
| Ccdc88a |
C |
T |
11: 29,432,133 (GRCm39) |
Q308* |
probably null |
Het |
| Ccl8 |
T |
C |
11: 82,006,973 (GRCm39) |
V62A |
probably damaging |
Het |
| Clspn |
C |
A |
4: 126,472,179 (GRCm39) |
P951Q |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,196,688 (GRCm39) |
N900K |
probably damaging |
Het |
| Ctc1 |
C |
T |
11: 68,924,328 (GRCm39) |
A960V |
probably damaging |
Het |
| Ctnnd2 |
A |
G |
15: 31,009,221 (GRCm39) |
E1106G |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,302,606 (GRCm39) |
R1766H |
probably damaging |
Het |
| Dipk1a |
A |
T |
5: 108,057,400 (GRCm39) |
L386* |
probably null |
Het |
| Dnajc13 |
G |
T |
9: 104,063,922 (GRCm39) |
N1341K |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| E2f8 |
G |
A |
7: 48,524,918 (GRCm39) |
|
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,972,967 (GRCm39) |
D91G |
possibly damaging |
Het |
| Fars2 |
A |
G |
13: 36,388,564 (GRCm39) |
R18G |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,816,995 (GRCm39) |
S2486G |
probably benign |
Het |
| Fibin |
C |
T |
2: 110,192,963 (GRCm39) |
D60N |
possibly damaging |
Het |
| Fpgs |
A |
G |
2: 32,577,379 (GRCm39) |
|
probably benign |
Het |
| Galnt15 |
A |
G |
14: 31,765,247 (GRCm39) |
D303G |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,899,049 (GRCm39) |
T812K |
possibly damaging |
Het |
| Gpbar1 |
G |
C |
1: 74,318,404 (GRCm39) |
A216P |
probably benign |
Het |
| Grin2d |
A |
G |
7: 45,507,357 (GRCm39) |
I448T |
probably benign |
Het |
| Il21 |
C |
A |
3: 37,286,653 (GRCm39) |
S21I |
probably damaging |
Het |
| Iqce |
G |
T |
5: 140,677,376 (GRCm39) |
D148E |
probably damaging |
Het |
| Iqcg |
T |
A |
16: 32,839,884 (GRCm39) |
E354V |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,226,320 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,206,238 (GRCm39) |
G144S |
probably damaging |
Het |
| Marco |
C |
A |
1: 120,421,954 (GRCm39) |
M83I |
probably benign |
Het |
| Mettl6 |
A |
T |
14: 31,201,752 (GRCm39) |
L185H |
probably damaging |
Het |
| Mppe1 |
C |
T |
18: 67,362,773 (GRCm39) |
G154D |
probably damaging |
Het |
| Mrpl42 |
T |
C |
10: 95,326,237 (GRCm39) |
E85G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,079,921 (GRCm39) |
V5518A |
probably damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,759 (GRCm39) |
F121L |
probably benign |
Het |
| Or52p1 |
T |
A |
7: 104,267,812 (GRCm39) |
F317I |
probably null |
Het |
| Or5b105 |
A |
T |
19: 13,080,053 (GRCm39) |
I199N |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,766 (GRCm39) |
C242* |
probably null |
Het |
| Or7d10 |
G |
T |
9: 19,831,655 (GRCm39) |
S50I |
probably benign |
Het |
| Perm1 |
A |
G |
4: 156,302,034 (GRCm39) |
T193A |
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,582,652 (GRCm39) |
C172S |
probably damaging |
Het |
| Prr23a3 |
T |
A |
9: 98,747,431 (GRCm39) |
D128E |
possibly damaging |
Het |
| Prss28 |
A |
G |
17: 25,528,711 (GRCm39) |
Y51C |
probably damaging |
Het |
| Psmb1 |
A |
T |
17: 15,696,451 (GRCm39) |
M85K |
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,854,401 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
A |
G |
5: 120,816,741 (GRCm39) |
D759G |
probably benign |
Het |
| Rcvrn |
G |
A |
11: 67,586,246 (GRCm39) |
G2R |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,334,640 (GRCm39) |
A597T |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Sdcbp |
T |
A |
4: 6,378,980 (GRCm39) |
Y22* |
probably null |
Het |
| Sin3a |
T |
C |
9: 57,025,360 (GRCm39) |
F1069L |
probably damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,957,129 (GRCm39) |
V548I |
possibly damaging |
Het |
| Tbc1d22a |
A |
G |
15: 86,275,287 (GRCm39) |
H403R |
probably damaging |
Het |
| Tbr1 |
G |
T |
2: 61,635,593 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
A |
17: 3,555,985 (GRCm39) |
D65E |
probably damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,813,833 (GRCm39) |
S488P |
probably benign |
Het |
| Trav9-2 |
T |
C |
14: 53,828,695 (GRCm39) |
S22P |
probably damaging |
Het |
| Trim34a |
T |
A |
7: 103,897,069 (GRCm39) |
N44K |
probably benign |
Het |
| Unc79 |
C |
G |
12: 103,078,691 (GRCm39) |
P1619A |
probably benign |
Het |
| Usp22 |
A |
T |
11: 61,048,042 (GRCm39) |
V426E |
probably damaging |
Het |
| Vhl |
A |
T |
6: 113,601,159 (GRCm39) |
M20L |
unknown |
Het |
| Vmn1r215 |
G |
A |
13: 23,260,064 (GRCm39) |
A35T |
probably benign |
Het |
| Vmn1r222 |
G |
A |
13: 23,416,602 (GRCm39) |
L204F |
possibly damaging |
Het |
| Zfp871 |
A |
T |
17: 32,994,829 (GRCm39) |
H115Q |
probably damaging |
Het |
| Zpr1 |
T |
A |
9: 46,189,640 (GRCm39) |
F340L |
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 |
|
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'- AGTGGCATGGATTCTGAAGGC -3'
(R):5'- TAGTGCTCTTTTGCAAAGACAG -3'
Sequencing Primer
(F):5'- CATGGATTCTGAAGGCCATGG -3'
(R):5'- CTCTTTTGCAAAGACAGTAAATGGGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation