Incidental Mutation 'R1935:Cngb1'
| ID |
215919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
039953-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1935 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96026320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 154
(G154W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093268]
[ENSMUST00000119870]
[ENSMUST00000133716]
[ENSMUST00000134207]
[ENSMUST00000156514]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093268
AA Change: G154W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090956
Gene: ENSMUSG00000031789
AA Change: G154W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000119870
AA Change: G154W
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: G154W
| 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: ENSMUST00000133716
AA Change: G154W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134207
AA Change: G154W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156514
AA Change: G154W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212237
AA Change: G33W
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.6%
|
| Validation Efficiency |
95% (95/100) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,846,572 (GRCm39) |
V30M |
probably benign |
Het |
| Abcg8 |
C |
T |
17: 85,002,417 (GRCm39) |
|
probably benign |
Het |
| Ablim1 |
T |
A |
19: 57,204,397 (GRCm39) |
|
probably null |
Het |
| Acvr1c |
A |
T |
2: 58,173,517 (GRCm39) |
N248K |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,407,304 (GRCm39) |
N207K |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 52,997,010 (GRCm39) |
D94E |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,705,523 (GRCm39) |
N918S |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,866,788 (GRCm39) |
N1097S |
probably damaging |
Het |
| Atf2 |
G |
A |
2: 73,676,563 (GRCm39) |
P184S |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,302,566 (GRCm39) |
Y963C |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,799,955 (GRCm39) |
V444A |
probably damaging |
Het |
| Avpr1a |
G |
A |
10: 122,285,695 (GRCm39) |
|
probably null |
Het |
| Best3 |
A |
C |
10: 116,860,291 (GRCm39) |
Q517P |
probably benign |
Het |
| C3 |
A |
G |
17: 57,525,829 (GRCm39) |
L851P |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,386,455 (GRCm39) |
F194S |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,215,473 (GRCm39) |
E903G |
probably damaging |
Het |
| Chn1 |
A |
G |
2: 73,455,245 (GRCm39) |
C39R |
probably damaging |
Het |
| Ciao1 |
A |
G |
2: 127,088,380 (GRCm39) |
S148P |
possibly damaging |
Het |
| Clrn3 |
A |
C |
7: 135,115,753 (GRCm39) |
I199S |
possibly damaging |
Het |
| Cnot2 |
G |
C |
10: 116,334,320 (GRCm39) |
P274R |
possibly damaging |
Het |
| Cops7a |
G |
A |
6: 124,939,359 (GRCm39) |
R97* |
probably null |
Het |
| Coro7 |
T |
C |
16: 4,446,596 (GRCm39) |
E843G |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,761,369 (GRCm39) |
R755G |
possibly damaging |
Het |
| Crtam |
G |
C |
9: 40,915,846 (GRCm39) |
P13A |
probably benign |
Het |
| Ddrgk1 |
G |
T |
2: 130,505,480 (GRCm39) |
|
probably benign |
Het |
| Defb26 |
T |
A |
2: 152,350,195 (GRCm39) |
K28N |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,945,870 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,854,479 (GRCm39) |
E47G |
unknown |
Het |
| Dnhd1 |
A |
T |
7: 105,323,183 (GRCm39) |
M564L |
probably benign |
Het |
| Dusp15 |
A |
G |
2: 152,787,341 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,139,159 (GRCm39) |
|
probably null |
Het |
| Eapp |
A |
T |
12: 54,720,513 (GRCm39) |
M234K |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gfi1b |
T |
C |
2: 28,500,125 (GRCm39) |
K302R |
possibly damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,994,947 (GRCm39) |
S440P |
probably damaging |
Het |
| Gpr6 |
T |
C |
10: 40,947,477 (GRCm39) |
E35G |
probably benign |
Het |
| H2-Q1 |
A |
T |
17: 35,542,469 (GRCm39) |
M305L |
probably benign |
Het |
| Hoxa10 |
C |
A |
6: 52,211,350 (GRCm39) |
G189C |
possibly damaging |
Het |
| Kbtbd4 |
T |
C |
2: 90,737,895 (GRCm39) |
V215A |
probably damaging |
Het |
| Klf16 |
G |
A |
10: 80,412,739 (GRCm39) |
A99V |
probably benign |
Het |
| Lvrn |
A |
T |
18: 47,011,387 (GRCm39) |
Y448F |
probably benign |
Het |
| Med19 |
A |
G |
2: 84,516,002 (GRCm39) |
H177R |
possibly damaging |
Het |
| Mif |
G |
T |
10: 75,695,681 (GRCm39) |
H41N |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,312,936 (GRCm39) |
M132T |
probably benign |
Het |
| Mtcl1 |
G |
T |
17: 66,686,409 (GRCm39) |
H480Q |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,908,222 (GRCm39) |
N2017S |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,797,959 (GRCm39) |
R740C |
probably damaging |
Het |
| Nlgn1 |
G |
T |
3: 26,385,939 (GRCm39) |
|
probably benign |
Het |
| Or14j7 |
T |
A |
17: 38,234,993 (GRCm39) |
C179S |
probably damaging |
Het |
| Or2ak6 |
T |
A |
11: 58,593,172 (GRCm39) |
L215Q |
probably damaging |
Het |
| Or4c11 |
A |
C |
2: 88,695,524 (GRCm39) |
M192L |
probably benign |
Het |
| Or6c214 |
A |
G |
10: 129,590,584 (GRCm39) |
V245A |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,593,550 (GRCm39) |
M463K |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,931 (GRCm39) |
Y147F |
probably damaging |
Het |
| Pgrmc2 |
C |
A |
3: 41,037,473 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
G |
A |
7: 24,316,832 (GRCm39) |
A278T |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,924,715 (GRCm39) |
|
probably null |
Het |
| Pom121 |
G |
A |
5: 135,412,740 (GRCm39) |
R481C |
unknown |
Het |
| Psg22 |
A |
T |
7: 18,453,635 (GRCm39) |
N149I |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,788,017 (GRCm39) |
Y434C |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,386,303 (GRCm39) |
S252P |
probably benign |
Het |
| Rtl1 |
A |
G |
12: 109,558,354 (GRCm39) |
S1162P |
probably benign |
Het |
| Samd9l |
G |
T |
6: 3,376,269 (GRCm39) |
Q331K |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,419,208 (GRCm39) |
Y629H |
probably damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,037,425 (GRCm39) |
I512L |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,413,777 (GRCm39) |
M484V |
probably benign |
Het |
| Slc25a24 |
A |
T |
3: 109,043,581 (GRCm39) |
E79D |
probably damaging |
Het |
| Snw1 |
T |
A |
12: 87,506,247 (GRCm39) |
I218F |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,221,082 (GRCm39) |
D545G |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,228,731 (GRCm39) |
S104P |
possibly damaging |
Het |
| Spry4 |
A |
G |
18: 38,723,142 (GRCm39) |
I207T |
possibly damaging |
Het |
| Tex101 |
A |
G |
7: 24,367,650 (GRCm39) |
V234A |
probably benign |
Het |
| Thra |
T |
A |
11: 98,653,899 (GRCm39) |
|
probably benign |
Het |
| Tmem161b |
T |
A |
13: 84,441,585 (GRCm39) |
L210Q |
probably damaging |
Het |
| Tmem50a |
A |
G |
4: 134,630,953 (GRCm39) |
|
probably benign |
Het |
| Tmem63b |
A |
G |
17: 45,989,887 (GRCm39) |
|
probably null |
Het |
| Tnrc6c |
A |
G |
11: 117,646,849 (GRCm39) |
D1450G |
possibly damaging |
Het |
| Trdmt1 |
A |
G |
2: 13,516,420 (GRCm39) |
L386P |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,771,822 (GRCm39) |
S109G |
possibly damaging |
Het |
| Trit1 |
T |
C |
4: 122,948,033 (GRCm39) |
I451T |
probably benign |
Het |
| Ttc34 |
G |
A |
4: 154,950,139 (GRCm39) |
A1031T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,577,522 (GRCm39) |
D24457V |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,715,834 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
A |
T |
2: 121,009,147 (GRCm39) |
|
probably benign |
Het |
| Ubiad1 |
A |
G |
4: 148,528,468 (GRCm39) |
L147P |
probably damaging |
Het |
| Vps72 |
T |
A |
3: 95,029,851 (GRCm39) |
V290D |
probably benign |
Het |
| Zfp408 |
A |
T |
2: 91,480,093 (GRCm39) |
M1K |
probably null |
Het |
| Zfy2 |
C |
A |
Y: 2,121,496 (GRCm39) |
M132I |
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 |
|
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'- CAAGGTTCTGGGATCTGTGC -3'
(R):5'- TACCCTGGGTCTCTTTGGAG -3'
Sequencing Primer
(F):5'- TGGGATCTGTGCTCCACC -3'
(R):5'- CTCATCATGTGGAGATAGTGGC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation