Incidental Mutation 'R8074:Cngb1'
| ID |
620416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
067508-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8074 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95978801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 551
(S551P)
|
| 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: S1010P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: S1010P
| 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: S551P
| 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: S551P
| 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: 99.2%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,829,320 (GRCm39) |
I1380L |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,184,420 (GRCm39) |
V32A |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,780,577 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
G |
A |
9: 42,882,399 (GRCm39) |
R1482* |
probably null |
Het |
| Cd300lg |
T |
G |
11: 101,932,427 (GRCm39) |
L4R |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,426,822 (GRCm39) |
K1072M |
possibly damaging |
Het |
| Clasp1 |
G |
T |
1: 118,390,213 (GRCm39) |
M132I |
probably benign |
Het |
| Clec18a |
T |
G |
8: 111,798,230 (GRCm39) |
D489A |
probably damaging |
Het |
| Efna4 |
G |
A |
3: 89,242,633 (GRCm39) |
T87M |
probably benign |
Het |
| Fam229b |
T |
C |
10: 38,996,255 (GRCm39) |
R42G |
probably null |
Het |
| Gm17175 |
C |
T |
14: 51,809,080 (GRCm39) |
M95I |
probably damaging |
Het |
| Grk4 |
A |
G |
5: 34,833,482 (GRCm39) |
E96G |
probably benign |
Het |
| Helb |
A |
C |
10: 119,925,321 (GRCm39) |
F1019V |
probably benign |
Het |
| Hsd17b2 |
T |
C |
8: 118,485,440 (GRCm39) |
V301A |
possibly damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,582 (GRCm39) |
F342L |
probably benign |
Het |
| Idua |
C |
A |
5: 108,828,441 (GRCm39) |
A265E |
possibly damaging |
Het |
| Jup |
T |
G |
11: 100,277,113 (GRCm39) |
T32P |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,715 (GRCm39) |
K1632E |
probably benign |
Het |
| Lef1 |
G |
A |
3: 130,997,954 (GRCm39) |
|
probably null |
Het |
| Lypla2 |
A |
G |
4: 135,697,112 (GRCm39) |
|
probably null |
Het |
| Mall |
A |
G |
2: 127,571,785 (GRCm39) |
M1T |
probably null |
Het |
| Mettl25 |
G |
T |
10: 105,661,941 (GRCm39) |
A343E |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,267,324 (GRCm39) |
N940S |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,908,631 (GRCm39) |
V643D |
possibly damaging |
Het |
| Nupr1 |
A |
T |
7: 126,224,109 (GRCm39) |
F70Y |
possibly damaging |
Het |
| Or1e17 |
T |
A |
11: 73,831,213 (GRCm39) |
V47D |
possibly damaging |
Het |
| Or52b4i |
A |
G |
7: 102,191,830 (GRCm39) |
H229R |
probably benign |
Het |
| Or52e8 |
A |
T |
7: 104,624,934 (GRCm39) |
I90N |
probably damaging |
Het |
| Or5ac20 |
A |
G |
16: 59,104,549 (GRCm39) |
F104L |
probably benign |
Het |
| Or8g32 |
A |
T |
9: 39,305,242 (GRCm39) |
I49F |
probably damaging |
Het |
| Or8k3 |
C |
G |
2: 86,058,473 (GRCm39) |
V281L |
possibly damaging |
Het |
| Pabpc4 |
A |
T |
4: 123,180,508 (GRCm39) |
M77L |
probably benign |
Het |
| Phactr3 |
A |
G |
2: 177,944,589 (GRCm39) |
E429G |
probably damaging |
Het |
| Polr3b |
A |
G |
10: 84,549,523 (GRCm39) |
D915G |
probably damaging |
Het |
| Pramel14 |
A |
T |
4: 143,718,424 (GRCm39) |
F340I |
probably benign |
Het |
| Prkcg |
T |
A |
7: 3,372,037 (GRCm39) |
M501K |
probably damaging |
Het |
| Prkch |
G |
A |
12: 73,747,041 (GRCm39) |
A307T |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,769,581 (GRCm39) |
V428A |
possibly damaging |
Het |
| Rnf145 |
C |
A |
11: 44,448,263 (GRCm39) |
D373E |
probably damaging |
Het |
| Scfd2 |
G |
T |
5: 74,680,257 (GRCm39) |
Q299K |
probably benign |
Het |
| Septin2 |
A |
G |
1: 93,433,283 (GRCm39) |
D315G |
probably benign |
Het |
| Sf3a1 |
T |
A |
11: 4,125,435 (GRCm39) |
Y408* |
probably null |
Het |
| Siglecf |
A |
T |
7: 43,001,214 (GRCm39) |
N61Y |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,824,531 (GRCm39) |
I1334K |
probably damaging |
Het |
| Slc38a6 |
A |
T |
12: 73,391,658 (GRCm39) |
T307S |
possibly damaging |
Het |
| Spag9 |
T |
A |
11: 94,002,877 (GRCm39) |
F1129Y |
probably damaging |
Het |
| Sra1 |
G |
A |
18: 36,808,064 (GRCm39) |
A388V |
possibly damaging |
Het |
| Srpk1 |
T |
G |
17: 28,840,990 (GRCm39) |
K12T |
probably damaging |
Het |
| Stam2 |
A |
T |
2: 52,596,438 (GRCm39) |
I333K |
probably damaging |
Het |
| Tle1 |
GAA |
GA |
4: 72,057,216 (GRCm39) |
|
probably null |
Het |
| Tmem121b |
T |
C |
6: 120,469,869 (GRCm39) |
K283E |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,868,850 (GRCm39) |
E473G |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,922,955 (GRCm39) |
S2513T |
probably benign |
Het |
| Ttc16 |
A |
T |
2: 32,664,135 (GRCm39) |
|
probably benign |
Het |
| Ttll8 |
C |
T |
15: 88,799,578 (GRCm39) |
C621Y |
probably damaging |
Het |
| Ubn2 |
T |
A |
6: 38,417,475 (GRCm39) |
M171K |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,312,904 (GRCm39) |
V658D |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,455,064 (GRCm39) |
|
probably benign |
Het |
| Vwa3a |
A |
T |
7: 120,398,321 (GRCm39) |
I941L |
probably benign |
Het |
| Zbtb24 |
A |
G |
10: 41,327,228 (GRCm39) |
D38G |
probably damaging |
Het |
| Zfp628 |
T |
C |
7: 4,923,205 (GRCm39) |
C476R |
probably damaging |
Het |
| Zfp831 |
A |
C |
2: 174,486,528 (GRCm39) |
N401T |
possibly 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 |
|
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 |
|
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'- ACAGAACGAAGCCGCTTGAG -3'
(R):5'- AAAGGAGGTGATGGTGTTCC -3'
Sequencing Primer
(F):5'- ATGTCGAAGATCATCTGCCG -3'
(R):5'- CCTGACAAGGGAACTCATAGATTCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation