Incidental Mutation 'R6919:Cngb1'
ID |
539500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cngb1
|
Ensembl Gene |
ENSMUSG00000031789 |
Gene Name |
cyclic nucleotide gated channel beta 1 |
Synonyms |
Cngb1b, BC016201, Cngb1 |
MMRRC Submission |
045039-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6919 (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 95975003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 1157
(R1157W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113827
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119870]
[ENSMUST00000120044]
[ENSMUST00000121162]
|
AlphaFold |
E1AZ71 |
Predicted Effect |
probably null
Transcript: ENSMUST00000119870
AA Change: R1157W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113827 Gene: ENSMUSG00000031789 AA Change: R1157W
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
AA Change: R698W
|
SMART Domains |
Protein: ENSMUSP00000113750 Gene: ENSMUSG00000031789 AA Change: R698W
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
AA Change: R698W
|
SMART Domains |
Protein: ENSMUSP00000112437 Gene: ENSMUSG00000031789 AA Change: R698W
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 |
0.3605 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
99% (84/85) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700086D15Rik |
A |
G |
11: 65,043,356 (GRCm39) |
|
probably benign |
Het |
6430548M08Rik |
T |
C |
8: 120,872,221 (GRCm39) |
S50P |
probably damaging |
Het |
Aacs |
A |
G |
5: 125,583,227 (GRCm39) |
D261G |
probably benign |
Het |
Abcc4 |
T |
A |
14: 118,832,306 (GRCm39) |
T775S |
probably benign |
Het |
Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
Agbl5 |
T |
A |
5: 31,062,061 (GRCm39) |
F196I |
probably benign |
Het |
Ahnak2 |
T |
C |
12: 112,741,118 (GRCm39) |
T985A |
possibly damaging |
Het |
Ak1 |
A |
T |
2: 32,521,134 (GRCm39) |
D101V |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,861,061 (GRCm39) |
Y156H |
probably damaging |
Het |
Angptl7 |
T |
A |
4: 148,584,488 (GRCm39) |
S87C |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,579,299 (GRCm39) |
T188A |
probably benign |
Het |
Arhgap11a |
A |
C |
2: 113,670,054 (GRCm39) |
S356R |
possibly damaging |
Het |
Ascc3 |
G |
T |
10: 50,521,849 (GRCm39) |
E455* |
probably null |
Het |
Atp6v0a2 |
G |
A |
5: 124,789,225 (GRCm39) |
|
probably null |
Het |
B3gnt7 |
T |
C |
1: 86,233,416 (GRCm39) |
W104R |
probably damaging |
Het |
Bbs9 |
G |
A |
9: 22,723,840 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
T |
A |
5: 43,860,557 (GRCm39) |
D544E |
probably benign |
Het |
Cic |
C |
T |
7: 24,971,202 (GRCm39) |
T311I |
probably benign |
Het |
Cntln |
A |
G |
4: 85,033,605 (GRCm39) |
H1310R |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,600,948 (GRCm39) |
I764F |
probably benign |
Het |
Col26a1 |
T |
C |
5: 136,773,088 (GRCm39) |
Q362R |
possibly damaging |
Het |
Cyp2c29 |
G |
A |
19: 39,279,585 (GRCm39) |
R100K |
probably benign |
Het |
D17H6S53E |
C |
G |
17: 35,346,222 (GRCm39) |
D44E |
probably damaging |
Het |
Dap3 |
A |
G |
3: 88,838,296 (GRCm39) |
V65A |
probably damaging |
Het |
Dna2 |
A |
T |
10: 62,792,782 (GRCm39) |
I266F |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,412,631 (GRCm39) |
G57E |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,880,564 (GRCm39) |
V333E |
probably benign |
Het |
Dpm1 |
A |
G |
2: 168,072,195 (GRCm39) |
Y27H |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,351,631 (GRCm39) |
Y150F |
possibly damaging |
Het |
Emilin3 |
A |
T |
2: 160,750,018 (GRCm39) |
I577N |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,819,552 (GRCm39) |
T189A |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,173,597 (GRCm39) |
I2372T |
possibly damaging |
Het |
Fbn2 |
A |
T |
18: 58,257,259 (GRCm39) |
|
probably null |
Het |
Gnl1 |
A |
T |
17: 36,298,425 (GRCm39) |
R390* |
probably null |
Het |
Hivep1 |
A |
G |
13: 42,336,928 (GRCm39) |
I2336V |
probably benign |
Het |
Il17rb |
C |
G |
14: 29,726,228 (GRCm39) |
|
probably null |
Het |
Itga9 |
T |
C |
9: 118,716,883 (GRCm39) |
W396R |
probably damaging |
Het |
Katnal2 |
A |
G |
18: 77,098,734 (GRCm39) |
V152A |
probably benign |
Het |
Kcnk3 |
A |
G |
5: 30,779,744 (GRCm39) |
T265A |
probably benign |
Het |
Klhl1 |
T |
C |
14: 96,374,030 (GRCm39) |
Y672C |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,146,625 (GRCm39) |
N412K |
possibly damaging |
Het |
Lrrc9 |
T |
A |
12: 72,553,167 (GRCm39) |
F1356L |
probably benign |
Het |
Map7 |
A |
G |
10: 20,046,828 (GRCm39) |
|
probably benign |
Het |
Mei1 |
T |
C |
15: 81,966,131 (GRCm39) |
F251S |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,176,681 (GRCm39) |
E9G |
possibly damaging |
Het |
Ms4a13 |
C |
A |
19: 11,149,249 (GRCm39) |
W182C |
probably benign |
Het |
Muc16 |
C |
T |
9: 18,571,595 (GRCm39) |
R308K |
unknown |
Het |
Or4c103 |
G |
A |
2: 88,514,028 (GRCm39) |
T16I |
possibly damaging |
Het |
Or8g22 |
A |
G |
9: 38,958,827 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
G |
10: 76,221,632 (GRCm39) |
V1998A |
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,254,368 (GRCm39) |
N51I |
probably benign |
Het |
Piezo1 |
T |
A |
8: 123,217,020 (GRCm39) |
H1333L |
probably damaging |
Het |
Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
Prss51 |
T |
C |
14: 64,334,937 (GRCm39) |
V182A |
probably damaging |
Het |
Psmb9 |
A |
T |
17: 34,402,199 (GRCm39) |
Y132* |
probably null |
Het |
Ralyl |
T |
C |
3: 13,842,091 (GRCm39) |
Y76H |
probably damaging |
Het |
Rnaset2a |
A |
T |
17: 8,349,114 (GRCm39) |
D174E |
probably benign |
Het |
Rnft1 |
G |
A |
11: 86,386,156 (GRCm39) |
|
probably null |
Het |
Robo2 |
T |
C |
16: 73,758,755 (GRCm39) |
Y676C |
probably damaging |
Het |
Samd9l |
T |
G |
6: 3,376,313 (GRCm39) |
Y316S |
possibly damaging |
Het |
Siah3 |
T |
A |
14: 75,693,578 (GRCm39) |
F28Y |
possibly damaging |
Het |
Slc28a3 |
C |
T |
13: 58,721,257 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
A |
G |
17: 81,696,301 (GRCm39) |
F911S |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,722,015 (GRCm39) |
Y1055C |
probably benign |
Het |
Speg |
T |
A |
1: 75,364,552 (GRCm39) |
L156* |
probably null |
Het |
Spopl |
T |
G |
2: 23,407,873 (GRCm39) |
M269L |
probably benign |
Het |
Tacr1 |
C |
T |
6: 82,534,054 (GRCm39) |
T360I |
probably benign |
Het |
Tasor |
T |
A |
14: 27,171,758 (GRCm39) |
L397* |
probably null |
Het |
Tmem262 |
A |
G |
19: 6,130,767 (GRCm39) |
E95G |
probably benign |
Het |
Tmem68 |
G |
T |
4: 3,569,669 (GRCm39) |
T7N |
possibly damaging |
Het |
Top3a |
T |
A |
11: 60,640,319 (GRCm39) |
I460F |
probably damaging |
Het |
Trafd1 |
G |
A |
5: 121,522,137 (GRCm39) |
R5* |
probably null |
Het |
Trim16 |
T |
A |
11: 62,731,695 (GRCm39) |
V435D |
possibly damaging |
Het |
Tspan17 |
A |
G |
13: 54,943,846 (GRCm39) |
D236G |
probably damaging |
Het |
Tssk2 |
A |
T |
16: 17,717,565 (GRCm39) |
M323L |
probably benign |
Het |
Ubqln5 |
A |
G |
7: 103,778,215 (GRCm39) |
V203A |
probably benign |
Het |
Utrn |
A |
T |
10: 12,569,214 (GRCm39) |
L1134* |
probably null |
Het |
Vmn1r37 |
C |
T |
6: 66,708,704 (GRCm39) |
S73F |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,834,734 (GRCm39) |
K1688E |
probably damaging |
Het |
Zbtb39 |
A |
G |
10: 127,577,711 (GRCm39) |
D95G |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,527,160 (GRCm39) |
I1019N |
probably damaging |
Het |
Zfp207 |
C |
T |
11: 80,286,329 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
C |
T |
14: 25,644,062 (GRCm39) |
T169M |
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 |
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 |
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'- AGGACACTGGGCACATTATG -3'
(R):5'- GCCTCCAAAGGGTCTCATTTCC -3'
Sequencing Primer
(F):5'- GCCTTTGACTTGATCCAGGAAG -3'
(R):5'- GGGTCTCATTTCCCTACCTTTCTAC -3'
|
Posted On |
2018-11-06 |