Incidental Mutation 'R0078:Cngb1'
| ID |
19554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
038365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 95991173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119870]
[ENSMUST00000120044]
[ENSMUST00000121162]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000119870
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
| 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 null
Transcript: ENSMUST00000120044
|
| SMART Domains |
Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
| 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 null
Transcript: ENSMUST00000121162
|
| SMART Domains |
Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
| 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 |
0.9491 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
81% (203/250) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,129 (GRCm39) |
Q456L |
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,268,954 (GRCm39) |
|
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,061,464 (GRCm39) |
S357C |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,512,030 (GRCm39) |
|
probably benign |
Het |
| Asb17 |
T |
A |
3: 153,550,301 (GRCm39) |
V111E |
probably damaging |
Het |
| C1qtnf4 |
C |
A |
2: 90,719,893 (GRCm39) |
N55K |
probably damaging |
Het |
| Cacng5 |
G |
T |
11: 107,768,259 (GRCm39) |
D249E |
probably benign |
Het |
| Camkk2 |
C |
A |
5: 122,895,622 (GRCm39) |
|
probably null |
Het |
| Ccdc27 |
T |
G |
4: 154,120,195 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
G |
A |
5: 123,436,633 (GRCm39) |
R1054H |
probably benign |
Het |
| Col7a1 |
A |
G |
9: 108,803,981 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
A |
5: 72,611,816 (GRCm39) |
D148V |
possibly damaging |
Het |
| Cstdc1 |
T |
A |
2: 148,627,745 (GRCm39) |
*131K |
probably null |
Het |
| Defb26 |
A |
C |
2: 152,349,988 (GRCm39) |
D97E |
possibly damaging |
Het |
| Dgkb |
A |
G |
12: 38,186,540 (GRCm39) |
N237D |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,379,993 (GRCm39) |
N1647S |
probably benign |
Het |
| Dtna |
G |
A |
18: 23,754,499 (GRCm39) |
A438T |
probably damaging |
Het |
| Erbb3 |
G |
T |
10: 128,419,310 (GRCm39) |
F219L |
probably damaging |
Het |
| EU599041 |
G |
A |
7: 42,875,275 (GRCm39) |
|
noncoding transcript |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,943,080 (GRCm39) |
S658P |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,802,805 (GRCm39) |
D168N |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,566,952 (GRCm39) |
|
probably benign |
Het |
| Glmn |
C |
T |
5: 107,705,836 (GRCm39) |
V451I |
probably benign |
Het |
| Gm9938 |
T |
A |
19: 23,701,988 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,270,169 (GRCm39) |
S61P |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,761,640 (GRCm39) |
M6L |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,724,185 (GRCm39) |
L825P |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,206,477 (GRCm39) |
I66F |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,351,501 (GRCm39) |
V243A |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,353 (GRCm39) |
S304T |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,309,517 (GRCm39) |
L586F |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,278,356 (GRCm39) |
L1686R |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,751,467 (GRCm39) |
R1540G |
probably damaging |
Het |
| Igha |
T |
A |
12: 113,223,547 (GRCm39) |
|
probably benign |
Het |
| Kif3a |
C |
A |
11: 53,469,812 (GRCm39) |
T141K |
probably benign |
Het |
| Knl1 |
G |
A |
2: 118,900,373 (GRCm39) |
M691I |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,789,146 (GRCm39) |
V13A |
probably benign |
Het |
| Lamc1 |
T |
A |
1: 153,104,936 (GRCm39) |
N1282I |
probably damaging |
Het |
| Lemd2 |
G |
T |
17: 27,422,702 (GRCm39) |
L231I |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,618,212 (GRCm39) |
V904M |
probably benign |
Het |
| Lyzl6 |
C |
T |
11: 103,524,795 (GRCm39) |
S103N |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,367,661 (GRCm39) |
R2367W |
probably damaging |
Het |
| Mapk3 |
T |
C |
7: 126,358,977 (GRCm39) |
Y54H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,315,592 (GRCm39) |
V198D |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,078,290 (GRCm39) |
S374G |
possibly damaging |
Het |
| Ngef |
T |
C |
1: 87,468,387 (GRCm39) |
E124G |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,121,516 (GRCm39) |
|
probably null |
Het |
| Nr4a2 |
T |
C |
2: 57,002,240 (GRCm39) |
Y8C |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 56,100,789 (GRCm39) |
V193D |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,424 (GRCm39) |
S148T |
probably benign |
Het |
| Or10w1 |
G |
T |
19: 13,632,179 (GRCm39) |
V129F |
probably benign |
Het |
| Or1p1 |
A |
T |
11: 74,180,092 (GRCm39) |
I207F |
probably damaging |
Het |
| Or4k36 |
A |
T |
2: 111,146,249 (GRCm39) |
I142F |
probably benign |
Het |
| Or6d15 |
A |
G |
6: 116,559,701 (GRCm39) |
S69P |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,793 (GRCm39) |
Y174C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,318,767 (GRCm39) |
D21G |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,775,344 (GRCm39) |
F489V |
possibly damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,625,068 (GRCm39) |
P849S |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,935,510 (GRCm39) |
Y644C |
probably damaging |
Het |
| Ppp5c |
T |
C |
7: 16,761,650 (GRCm39) |
E28G |
probably benign |
Het |
| Prkcb |
A |
G |
7: 122,189,393 (GRCm39) |
Y507C |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,398,251 (GRCm39) |
D1072G |
probably benign |
Het |
| Scarf1 |
A |
G |
11: 75,405,988 (GRCm39) |
|
probably benign |
Het |
| Scoc |
T |
A |
8: 84,184,887 (GRCm39) |
|
probably null |
Het |
| Sh2d4a |
A |
T |
8: 68,734,973 (GRCm39) |
M31L |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,034,598 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
A |
G |
2: 127,134,127 (GRCm39) |
Y270C |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,881 (GRCm39) |
T147A |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,284,823 (GRCm39) |
L604P |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
| Trpm8 |
C |
A |
1: 88,255,870 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,943,448 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Tyro3 |
A |
T |
2: 119,647,487 (GRCm39) |
Q872L |
probably damaging |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,379 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,035,971 (GRCm39) |
I2149T |
possibly damaging |
Het |
| Zfp668 |
A |
T |
7: 127,467,210 (GRCm39) |
M122K |
possibly damaging |
Het |
| Zkscan1 |
A |
T |
5: 138,091,363 (GRCm39) |
D32V |
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 |
|
|
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 |
|
|
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'- CAAGGTGAAGAGTCTAACTGGCTGC -3'
(R):5'- GACTCCAGACTGCTGTGGAAGAAAG -3'
Sequencing Primer
(F):5'- AGGGTAGCTCACATTCTTCAG -3'
(R):5'- CTGCTGTGGAAGAAAGAAAGG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation