Incidental Mutation 'R1833:Cngb1'
| ID |
204960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
039860-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1833 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95968983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1175
(L1175P)
|
| 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: L1175P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: L1175P
| 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 |
unknown
Transcript: ENSMUST00000120044
AA Change: L716P
|
| SMART Domains |
Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: L716P
| 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 |
unknown
Transcript: ENSMUST00000121162
AA Change: L716P
|
| SMART Domains |
Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: L716P
| 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 |
0.1632 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.9%
|
| Validation Efficiency |
99% (83/84) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,350,509 (GRCm39) |
D143V |
unknown |
Het |
| 4930438A08Rik |
C |
T |
11: 58,179,214 (GRCm39) |
Q183* |
probably null |
Het |
| 9230009I02Rik |
A |
G |
11: 50,982,293 (GRCm39) |
|
noncoding transcript |
Het |
| Abhd12 |
T |
A |
2: 150,690,338 (GRCm39) |
D119V |
probably damaging |
Het |
| Adam1b |
A |
G |
5: 121,641,000 (GRCm39) |
I15T |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,613,797 (GRCm39) |
|
probably null |
Het |
| Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
| Arid4a |
C |
T |
12: 71,122,240 (GRCm39) |
L874F |
possibly damaging |
Het |
| Bcas3 |
G |
A |
11: 85,474,775 (GRCm39) |
V317I |
probably benign |
Het |
| Ccr1 |
T |
A |
9: 123,764,126 (GRCm39) |
I135F |
probably damaging |
Het |
| Ces2h |
A |
G |
8: 105,747,005 (GRCm39) |
E547G |
possibly damaging |
Het |
| Ces3b |
T |
A |
8: 105,812,271 (GRCm39) |
D173E |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,244,949 (GRCm39) |
L1197S |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,184 (GRCm39) |
F286L |
probably benign |
Het |
| Dclre1a |
C |
T |
19: 56,529,932 (GRCm39) |
|
probably null |
Het |
| Dennd6a |
T |
A |
14: 26,328,109 (GRCm39) |
L44H |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,196,511 (GRCm39) |
T560A |
probably benign |
Het |
| Dusp12 |
T |
C |
1: 170,702,022 (GRCm39) |
M326V |
probably benign |
Het |
| Eif3k |
T |
C |
7: 28,670,852 (GRCm39) |
I180V |
probably benign |
Het |
| Erc1 |
A |
G |
6: 119,720,390 (GRCm39) |
I437T |
possibly damaging |
Het |
| Farp2 |
T |
A |
1: 93,504,086 (GRCm39) |
|
probably benign |
Het |
| Foxa3 |
A |
G |
7: 18,748,499 (GRCm39) |
L209P |
probably damaging |
Het |
| Garin2 |
G |
A |
12: 78,762,280 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,298,352 (GRCm39) |
|
probably benign |
Het |
| Gm10305 |
A |
G |
4: 99,161,363 (GRCm39) |
T91A |
unknown |
Het |
| Gm14412 |
T |
C |
2: 177,007,583 (GRCm39) |
D104G |
probably benign |
Het |
| Gm6900 |
T |
C |
7: 10,390,515 (GRCm39) |
|
noncoding transcript |
Het |
| Gpx1 |
A |
T |
9: 108,216,555 (GRCm39) |
Y15F |
possibly damaging |
Het |
| H2-M10.3 |
T |
C |
17: 36,678,387 (GRCm39) |
Y146C |
probably damaging |
Het |
| H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,988,224 (GRCm39) |
Y628C |
probably damaging |
Het |
| Hspa5 |
T |
A |
2: 34,666,065 (GRCm39) |
Y636* |
probably null |
Het |
| Htt |
A |
G |
5: 35,063,092 (GRCm39) |
|
probably benign |
Het |
| Idh1 |
T |
C |
1: 65,200,273 (GRCm39) |
I364V |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,007,988 (GRCm39) |
A423S |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,830,802 (GRCm39) |
N169S |
possibly damaging |
Het |
| Larp4b |
C |
T |
13: 9,201,235 (GRCm39) |
T369I |
possibly damaging |
Het |
| Lcor |
T |
C |
19: 41,573,387 (GRCm39) |
I714T |
probably benign |
Het |
| Lhfpl7 |
A |
G |
5: 113,382,435 (GRCm39) |
|
probably benign |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Magi2 |
G |
T |
5: 19,432,455 (GRCm39) |
G57C |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,720,761 (GRCm39) |
H2291Q |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,631,652 (GRCm39) |
|
probably null |
Het |
| Micall2 |
A |
G |
5: 139,702,508 (GRCm39) |
V245A |
probably benign |
Het |
| Mipep |
T |
G |
14: 61,109,512 (GRCm39) |
Y630D |
probably damaging |
Het |
| Msx2 |
A |
T |
13: 53,622,221 (GRCm39) |
M263K |
probably damaging |
Het |
| Nectin2 |
G |
T |
7: 19,451,633 (GRCm39) |
P467H |
probably damaging |
Het |
| Nek10 |
A |
T |
14: 14,842,789 (GRCm38) |
M165L |
probably benign |
Het |
| Nlrp4b |
A |
T |
7: 10,459,863 (GRCm39) |
M455L |
probably benign |
Het |
| Oaz3 |
TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG |
TGGAGGCAGGAGCACGGGAGGCAG |
3: 94,343,349 (GRCm39) |
|
probably benign |
Het |
| Or10ad1b |
T |
A |
15: 98,124,846 (GRCm39) |
I227F |
probably damaging |
Het |
| Or4c10 |
T |
A |
2: 89,760,645 (GRCm39) |
L164* |
probably null |
Het |
| Pcx |
T |
A |
19: 4,669,132 (GRCm39) |
V710E |
probably damaging |
Het |
| Pkn2 |
C |
T |
3: 142,527,408 (GRCm39) |
R347Q |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,145,218 (GRCm39) |
E44G |
possibly damaging |
Het |
| Qsox1 |
C |
T |
1: 155,666,791 (GRCm39) |
G233S |
probably benign |
Het |
| Rbl1 |
T |
A |
2: 157,037,475 (GRCm39) |
N224I |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,362,116 (GRCm39) |
T132A |
probably damaging |
Het |
| Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
| Sema4f |
A |
T |
6: 82,895,540 (GRCm39) |
L331H |
probably benign |
Het |
| Sf3b3 |
T |
A |
8: 111,544,198 (GRCm39) |
Q814L |
probably benign |
Het |
| Slc19a2 |
T |
G |
1: 164,089,753 (GRCm39) |
Y190D |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,982,879 (GRCm39) |
H204Q |
possibly damaging |
Het |
| Sox6 |
T |
C |
7: 115,376,328 (GRCm39) |
K135E |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,145,426 (GRCm39) |
Q607R |
probably damaging |
Het |
| Tgfb1i1 |
A |
G |
7: 127,848,670 (GRCm39) |
|
probably benign |
Het |
| Tirap |
T |
G |
9: 35,099,999 (GRCm39) |
R228S |
probably benign |
Het |
| Trp53bp2 |
T |
A |
1: 182,256,581 (GRCm39) |
H50Q |
probably damaging |
Het |
| Try4 |
A |
G |
6: 41,280,365 (GRCm39) |
H63R |
probably damaging |
Het |
| Vmn2r25 |
G |
A |
6: 123,816,643 (GRCm39) |
P313S |
probably benign |
Het |
| Vps26a |
A |
C |
10: 62,294,825 (GRCm39) |
L250V |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,619,000 (GRCm39) |
H1226R |
probably benign |
Het |
| Wdtc1 |
TCC |
TC |
4: 133,036,053 (GRCm39) |
|
probably benign |
Het |
| Zc3hav1l |
A |
T |
6: 38,274,881 (GRCm39) |
|
probably benign |
Het |
| Zfp119b |
T |
G |
17: 56,246,271 (GRCm39) |
H305P |
probably damaging |
Het |
| Zfp326 |
C |
T |
5: 106,039,035 (GRCm39) |
Q134* |
probably null |
Het |
| Zfp975 |
C |
T |
7: 42,311,263 (GRCm39) |
R450Q |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,333,032 (GRCm39) |
M313K |
probably benign |
Het |
| Zscan5b |
T |
C |
7: 6,241,965 (GRCm39) |
S395P |
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 |
|
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'- ACCTGTTCCAGCAGCTGTTG -3'
(R):5'- GCGATTCTAAGCATCCATCTATCG -3'
Sequencing Primer
(F):5'- CTGTTGCTGTCGCGCGG -3'
(R):5'- TCTAAGCATCCATCTATCGTAAGC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation