Incidental Mutation 'R6492:Cngb1'
| ID |
522988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cngb1
|
| Ensembl Gene |
ENSMUSG00000031789 |
| Gene Name |
cyclic nucleotide gated channel beta 1 |
| Synonyms |
Cngb1b, BC016201, Cngb1 |
| MMRRC Submission |
044624-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6492 (G1)
|
| Quality Score |
192.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95965673-96033213 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95991052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 717
(M717L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119870]
[ENSMUST00000120044]
[ENSMUST00000121162]
|
| AlphaFold |
E1AZ71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119870
AA Change: M717L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113827
Gene: ENSMUSG00000031789
AA Change: M717L
| 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 benign
Transcript: ENSMUST00000120044
AA Change: M258L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113750
Gene: ENSMUSG00000031789
AA Change: M258L
| 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 benign
Transcript: ENSMUST00000121162
AA Change: M258L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000112437
Gene: ENSMUSG00000031789
AA Change: M258L
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,631,464 (GRCm39) |
T587I |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,691,667 (GRCm39) |
M1062K |
probably benign |
Het |
| Agbl4 |
G |
A |
4: 111,404,469 (GRCm39) |
D272N |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,058,261 (GRCm39) |
I2215F |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,109,784 (GRCm39) |
Q821H |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,729 (GRCm39) |
Y971C |
probably damaging |
Het |
| Atp6ap1l |
A |
T |
13: 91,031,841 (GRCm39) |
H280Q |
probably damaging |
Het |
| B4galt2 |
A |
T |
4: 117,734,164 (GRCm39) |
M291K |
probably damaging |
Het |
| Cachd1 |
G |
T |
4: 100,809,315 (GRCm39) |
V267F |
possibly damaging |
Het |
| Cadm2 |
G |
T |
16: 66,581,715 (GRCm39) |
L188M |
probably damaging |
Het |
| Ccn6 |
C |
T |
10: 39,030,983 (GRCm39) |
G180D |
probably benign |
Het |
| Ceacam19 |
T |
C |
7: 19,616,517 (GRCm39) |
N199S |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,746,476 (GRCm39) |
M279K |
probably benign |
Het |
| Cp |
T |
C |
3: 20,036,186 (GRCm39) |
V777A |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,861,792 (GRCm39) |
D594G |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,778,734 (GRCm39) |
|
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
A |
G |
7: 118,583,800 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ikbke |
T |
C |
1: 131,186,955 (GRCm39) |
Y579C |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,201 (GRCm39) |
Y362C |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,466,978 (GRCm39) |
V365A |
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,578 (GRCm39) |
I105T |
probably damaging |
Het |
| Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
| Mettl22 |
T |
A |
16: 8,306,755 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
A |
G |
1: 127,399,301 (GRCm39) |
I619V |
probably benign |
Het |
| Nin |
T |
C |
12: 70,101,308 (GRCm39) |
I430V |
probably benign |
Het |
| Or52n2c |
C |
A |
7: 104,574,852 (GRCm39) |
A40S |
possibly damaging |
Het |
| Or5au1 |
A |
G |
14: 52,272,902 (GRCm39) |
F222S |
probably benign |
Het |
| Or5j3 |
T |
C |
2: 86,128,990 (GRCm39) |
F277L |
probably benign |
Het |
| Or5w22 |
C |
G |
2: 87,363,085 (GRCm39) |
A236G |
possibly damaging |
Het |
| Or8k3 |
T |
A |
2: 86,058,731 (GRCm39) |
I195F |
possibly damaging |
Het |
| Parvb |
T |
C |
15: 84,188,073 (GRCm39) |
L272P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,149,649 (GRCm39) |
K180E |
possibly damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,457,615 (GRCm39) |
T736M |
probably damaging |
Het |
| Plcb4 |
C |
T |
2: 135,814,991 (GRCm39) |
R760* |
probably null |
Het |
| Pramel6 |
C |
T |
2: 87,340,766 (GRCm39) |
T366I |
probably benign |
Het |
| Prr29 |
C |
T |
11: 106,266,062 (GRCm39) |
R42W |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,241,048 (GRCm39) |
I81V |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,649,478 (GRCm39) |
T294A |
probably benign |
Het |
| Ptprc |
A |
T |
1: 138,041,300 (GRCm39) |
|
probably null |
Het |
| Sin3b |
T |
A |
8: 73,460,118 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
T |
C |
1: 13,060,151 (GRCm39) |
Y190C |
probably damaging |
Het |
| Slco6c1 |
T |
G |
1: 97,053,538 (GRCm39) |
Y121S |
probably damaging |
Het |
| Srcap |
G |
T |
7: 127,121,317 (GRCm39) |
G217* |
probably null |
Het |
| Ss18 |
A |
T |
18: 14,784,145 (GRCm39) |
M181K |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,385,809 (GRCm39) |
T176A |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,955,971 (GRCm39) |
E579G |
probably damaging |
Het |
| Taf7 |
A |
G |
18: 37,776,159 (GRCm39) |
I136T |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Tyrp1 |
A |
G |
4: 80,759,018 (GRCm39) |
D297G |
probably null |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Wwp1 |
G |
A |
4: 19,650,299 (GRCm39) |
S289L |
possibly damaging |
Het |
| Xbp1 |
T |
C |
11: 5,471,005 (GRCm39) |
V4A |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,319,711 (GRCm39) |
Y105C |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 45,000,508 (GRCm39) |
|
probably benign |
Het |
| Zkscan8 |
A |
T |
13: 21,709,397 (GRCm39) |
I167N |
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 |
|
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 |
|
|
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'- GACGTGTGTTAAAGAATCAGGC -3'
(R):5'- AGGAGCATACTGGCCTTCTG -3'
Sequencing Primer
(F):5'- TCAGGCAAGGATGTGTGGAATC -3'
(R):5'- AAGTCCCAGCTCTGTGGGTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation