Incidental Mutation 'R5637:Cngb1'
| ID |
440445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5637 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95984549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 420
(H420R)
|
| 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: H879R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: H879R
| 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: ENSMUST00000120044
AA Change: H420R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: H420R
| 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 damaging
Transcript: ENSMUST00000121162
AA Change: H420R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: H420R
| 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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,694,050 (GRCm39) |
F327L |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,841,391 (GRCm39) |
S824Y |
probably damaging |
Het |
| Arfip2 |
A |
G |
7: 105,286,370 (GRCm39) |
M144T |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,158,502 (GRCm39) |
N179S |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,317,339 (GRCm39) |
Y249C |
probably damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,842,165 (GRCm39) |
T141A |
probably benign |
Het |
| Cd177 |
T |
A |
7: 24,455,748 (GRCm39) |
H258L |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,714,332 (GRCm39) |
W1956R |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,245,108 (GRCm39) |
|
probably null |
Het |
| Cobl |
C |
T |
11: 12,246,531 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,956,247 (GRCm39) |
D337G |
possibly damaging |
Het |
| Dmrta1 |
A |
G |
4: 89,577,068 (GRCm39) |
N175D |
probably benign |
Het |
| Dnah7b |
G |
T |
1: 46,395,674 (GRCm39) |
V3859L |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,799,521 (GRCm39) |
|
probably null |
Het |
| Dusp4 |
C |
A |
8: 35,284,451 (GRCm39) |
H255Q |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,292,751 (GRCm39) |
V134A |
possibly damaging |
Het |
| F12 |
T |
C |
13: 55,570,228 (GRCm39) |
K93E |
possibly damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,852,277 (GRCm39) |
N1267D |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,560,358 (GRCm39) |
I1383T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gpr158 |
A |
G |
2: 21,788,083 (GRCm39) |
I575V |
probably benign |
Het |
| Hdc |
A |
G |
2: 126,458,109 (GRCm39) |
V71A |
probably benign |
Het |
| Helb |
G |
A |
10: 119,941,353 (GRCm39) |
T445M |
probably benign |
Het |
| Inppl1 |
A |
T |
7: 101,478,055 (GRCm39) |
S652R |
probably benign |
Het |
| Itpripl1 |
T |
C |
2: 126,984,044 (GRCm39) |
D26G |
probably damaging |
Het |
| Klc1 |
T |
A |
12: 111,740,842 (GRCm39) |
L106H |
probably damaging |
Het |
| Klhl25 |
T |
A |
7: 75,515,540 (GRCm39) |
|
probably null |
Het |
| Krt6a |
T |
C |
15: 101,600,714 (GRCm39) |
D318G |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,302,762 (GRCm39) |
N2989S |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,304,731 (GRCm39) |
|
probably null |
Het |
| Man1c1 |
A |
G |
4: 134,318,735 (GRCm39) |
S251P |
probably damaging |
Het |
| Mapre2 |
T |
C |
18: 23,886,919 (GRCm39) |
|
probably benign |
Het |
| Mfap3l |
A |
T |
8: 61,109,821 (GRCm39) |
I66F |
probably damaging |
Het |
| Mvk |
A |
G |
5: 114,594,003 (GRCm39) |
E286G |
possibly damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or14a260 |
G |
A |
7: 85,984,812 (GRCm39) |
T264I |
probably benign |
Het |
| Or4f52 |
T |
A |
2: 111,061,456 (GRCm39) |
K227N |
probably benign |
Het |
| Or7d11 |
A |
T |
9: 19,966,279 (GRCm39) |
V160D |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,123,198 (GRCm39) |
F991L |
possibly damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,426 (GRCm39) |
V165A |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,618,745 (GRCm39) |
H437R |
probably damaging |
Het |
| Pfas |
C |
T |
11: 68,884,149 (GRCm39) |
V589M |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,046,746 (GRCm39) |
V288A |
possibly damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,387 (GRCm39) |
D137G |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,788,820 (GRCm39) |
S51G |
probably benign |
Het |
| Scap |
G |
A |
9: 110,210,640 (GRCm39) |
A991T |
possibly damaging |
Het |
| Sdk2 |
C |
A |
11: 113,724,005 (GRCm39) |
V1222F |
probably damaging |
Het |
| Sdr16c6 |
T |
A |
4: 4,063,232 (GRCm39) |
N181I |
possibly damaging |
Het |
| Semp2l2a |
A |
T |
8: 13,887,713 (GRCm39) |
M126K |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,356,037 (GRCm39) |
D20V |
probably damaging |
Het |
| Sh3bp2 |
C |
A |
5: 34,718,392 (GRCm39) |
R531S |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Sox2 |
A |
G |
3: 34,704,677 (GRCm39) |
N38S |
probably benign |
Het |
| Spg7 |
C |
A |
8: 123,821,314 (GRCm39) |
Q680K |
possibly damaging |
Het |
| Styk1 |
T |
C |
6: 131,277,381 (GRCm39) |
E331G |
possibly damaging |
Het |
| Tkfc |
G |
A |
19: 10,571,897 (GRCm39) |
R380W |
probably benign |
Het |
| Trib3 |
A |
G |
2: 152,180,410 (GRCm39) |
F261S |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,793,998 (GRCm39) |
Q62L |
possibly damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,349,296 (GRCm39) |
Y762C |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,628 (GRCm39) |
Y627* |
probably null |
Het |
| Zfp12 |
A |
G |
5: 143,231,451 (GRCm39) |
K625E |
probably damaging |
Het |
| Zw10 |
T |
C |
9: 48,968,950 (GRCm39) |
V38A |
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 |
|
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'- GAGCAAGGTTGTTTTGGCAAC -3'
(R):5'- ACTGATTGGATAACTGGCTGG -3'
Sequencing Primer
(F):5'- GTTTTGGCAACGCAATAGCC -3'
(R):5'- GGCTGGCCAGGGTTATATG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation