Incidental Mutation 'R5446:Cnbd2'
ID |
429063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnbd2
|
Ensembl Gene |
ENSMUSG00000038085 |
Gene Name |
cyclic nucleotide binding domain containing 2 |
Synonyms |
4921517L17Rik, 5430421B09Rik |
MMRRC Submission |
043011-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R5446 (G1)
|
Quality Score |
212 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156154219-156217558 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 156209581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 508
(E508A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037096]
[ENSMUST00000109580]
|
AlphaFold |
Q9D5U8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037096
AA Change: E508A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041268 Gene: ENSMUSG00000038085 AA Change: E508A
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
68 |
N/A |
INTRINSIC |
cNMP
|
206 |
332 |
1.78e-7 |
SMART |
Blast:cNMP
|
376 |
443 |
4e-19 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109580
AA Change: E379A
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105208 Gene: ENSMUSG00000038085 AA Change: E379A
Domain | Start | End | E-Value | Type |
cNMP
|
77 |
203 |
1.78e-7 |
SMART |
Blast:cNMP
|
247 |
314 |
3e-19 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced male fertility associated with impaired spermiogenesis and development of flagellum bending. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adar |
A |
G |
3: 89,647,486 (GRCm39) |
N155S |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,296,505 (GRCm39) |
D1417G |
possibly damaging |
Het |
Ankrd52 |
G |
T |
10: 128,224,430 (GRCm39) |
C736F |
probably damaging |
Het |
Arhgap15 |
T |
A |
2: 43,718,772 (GRCm39) |
H85Q |
probably benign |
Het |
Bcat2 |
G |
A |
7: 45,234,569 (GRCm39) |
R110H |
possibly damaging |
Het |
Bscl2 |
A |
G |
19: 8,823,564 (GRCm39) |
H4R |
possibly damaging |
Het |
Cdh2 |
T |
C |
18: 16,779,684 (GRCm39) |
I126V |
probably damaging |
Het |
Crb2 |
T |
C |
2: 37,685,461 (GRCm39) |
I1191T |
probably benign |
Het |
Dync2h1 |
T |
C |
9: 7,144,217 (GRCm39) |
T1075A |
probably benign |
Het |
Edil3 |
A |
C |
13: 89,332,957 (GRCm39) |
H371P |
possibly damaging |
Het |
Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
Helz |
T |
C |
11: 107,523,030 (GRCm39) |
V737A |
probably damaging |
Het |
Jade2 |
A |
G |
11: 51,707,786 (GRCm39) |
V809A |
probably benign |
Het |
Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
Krt75 |
T |
C |
15: 101,479,502 (GRCm39) |
D276G |
probably null |
Het |
Lipm |
C |
T |
19: 34,095,287 (GRCm39) |
A294V |
possibly damaging |
Het |
Med13l |
A |
G |
5: 118,880,462 (GRCm39) |
N1185D |
possibly damaging |
Het |
Mmp27 |
T |
A |
9: 7,573,516 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
Muc21 |
T |
A |
17: 35,933,395 (GRCm39) |
|
probably benign |
Het |
Npnt |
A |
G |
3: 132,614,130 (GRCm39) |
L191P |
probably damaging |
Het |
Or4c10b |
A |
T |
2: 89,711,893 (GRCm39) |
H241L |
probably damaging |
Het |
Paip2b |
T |
C |
6: 83,791,844 (GRCm39) |
I13V |
probably benign |
Het |
Pcdhac2 |
T |
A |
18: 37,278,253 (GRCm39) |
L411Q |
probably damaging |
Het |
Plekhd1 |
A |
G |
12: 80,767,410 (GRCm39) |
N266S |
probably benign |
Het |
Pnpla8 |
A |
G |
12: 44,337,368 (GRCm39) |
T454A |
possibly damaging |
Het |
Prkcg |
A |
T |
7: 3,378,780 (GRCm39) |
Y675F |
probably benign |
Het |
Pwwp2b |
T |
A |
7: 138,835,066 (GRCm39) |
I169N |
probably damaging |
Het |
Rreb1 |
G |
A |
13: 38,082,473 (GRCm39) |
R86H |
possibly damaging |
Het |
Smok3c |
A |
C |
5: 138,062,895 (GRCm39) |
L127F |
probably damaging |
Het |
St6galnac1 |
T |
A |
11: 116,657,095 (GRCm39) |
M427L |
probably benign |
Het |
Synm |
T |
C |
7: 67,385,722 (GRCm39) |
T205A |
probably benign |
Het |
Tsbp1 |
T |
C |
17: 34,659,867 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,837,231 (GRCm39) |
Y564C |
probably damaging |
Het |
Vmn2r90 |
A |
C |
17: 17,932,464 (GRCm39) |
T124P |
probably damaging |
Het |
Vpreb1a |
A |
T |
16: 16,686,554 (GRCm39) |
V112E |
probably damaging |
Het |
Zfp451 |
A |
G |
1: 33,816,609 (GRCm39) |
L447S |
probably damaging |
Het |
Zfp746 |
T |
C |
6: 48,041,107 (GRCm39) |
T539A |
probably damaging |
Het |
|
Other mutations in Cnbd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01146:Cnbd2
|
APN |
2 |
156,154,534 (GRCm39) |
unclassified |
probably benign |
|
IGL01472:Cnbd2
|
APN |
2 |
156,217,268 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01738:Cnbd2
|
APN |
2 |
156,217,537 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01825:Cnbd2
|
APN |
2 |
156,180,629 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03001:Cnbd2
|
APN |
2 |
156,175,554 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03057:Cnbd2
|
APN |
2 |
156,209,592 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1006:Cnbd2
|
UTSW |
2 |
156,170,328 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1080:Cnbd2
|
UTSW |
2 |
156,181,193 (GRCm39) |
missense |
probably benign |
0.28 |
R1428:Cnbd2
|
UTSW |
2 |
156,181,204 (GRCm39) |
critical splice donor site |
probably null |
|
R1592:Cnbd2
|
UTSW |
2 |
156,177,322 (GRCm39) |
missense |
probably benign |
0.30 |
R1601:Cnbd2
|
UTSW |
2 |
156,175,551 (GRCm39) |
missense |
probably damaging |
0.98 |
R1637:Cnbd2
|
UTSW |
2 |
156,215,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R2259:Cnbd2
|
UTSW |
2 |
156,177,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R2352:Cnbd2
|
UTSW |
2 |
156,177,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R4106:Cnbd2
|
UTSW |
2 |
156,177,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4109:Cnbd2
|
UTSW |
2 |
156,177,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R4479:Cnbd2
|
UTSW |
2 |
156,175,573 (GRCm39) |
intron |
probably benign |
|
R4857:Cnbd2
|
UTSW |
2 |
156,209,485 (GRCm39) |
missense |
probably benign |
0.01 |
R4893:Cnbd2
|
UTSW |
2 |
156,207,104 (GRCm39) |
missense |
probably damaging |
0.97 |
R4899:Cnbd2
|
UTSW |
2 |
156,181,141 (GRCm39) |
missense |
probably benign |
0.00 |
R5070:Cnbd2
|
UTSW |
2 |
156,177,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R5784:Cnbd2
|
UTSW |
2 |
156,180,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R6197:Cnbd2
|
UTSW |
2 |
156,217,494 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7009:Cnbd2
|
UTSW |
2 |
156,161,954 (GRCm39) |
missense |
probably benign |
0.00 |
R7221:Cnbd2
|
UTSW |
2 |
156,215,581 (GRCm39) |
missense |
probably benign |
0.01 |
R7577:Cnbd2
|
UTSW |
2 |
156,170,296 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7699:Cnbd2
|
UTSW |
2 |
156,217,326 (GRCm39) |
missense |
probably benign |
0.00 |
R8146:Cnbd2
|
UTSW |
2 |
156,170,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R8893:Cnbd2
|
UTSW |
2 |
156,154,460 (GRCm39) |
missense |
unknown |
|
R9135:Cnbd2
|
UTSW |
2 |
156,217,488 (GRCm39) |
missense |
probably damaging |
0.97 |
R9715:Cnbd2
|
UTSW |
2 |
156,183,547 (GRCm39) |
missense |
probably benign |
0.13 |
R9734:Cnbd2
|
UTSW |
2 |
156,180,540 (GRCm39) |
missense |
possibly damaging |
0.91 |
X0002:Cnbd2
|
UTSW |
2 |
156,180,617 (GRCm39) |
missense |
probably benign |
0.22 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCAGGAGGGCTTTCAG -3'
(R):5'- GGCCTTGTCTCTCAAAAGGG -3'
Sequencing Primer
(F):5'- GCCACAGTAAGGCCTGG -3'
(R):5'- GGAAGATCAGTCAGTGCTCTTAACC -3'
|
Posted On |
2016-09-06 |