Incidental Mutation 'IGL01738:Cnbd2'
ID |
105782 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cnbd2
|
Ensembl Gene |
ENSMUSG00000038085 |
Gene Name |
cyclic nucleotide binding domain containing 2 |
Synonyms |
4921517L17Rik, 5430421B09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL01738
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
156154219-156217558 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
C to A
at 156217537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105208
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037096]
[ENSMUST00000109580]
|
AlphaFold |
Q9D5U8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037096
|
SMART Domains |
Protein: ENSMUSP00000041268 Gene: ENSMUSG00000038085
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 |
probably benign
Transcript: ENSMUST00000109580
|
SMART Domains |
Protein: ENSMUSP00000105208 Gene: ENSMUSG00000038085
Domain | Start | End | E-Value | Type |
cNMP
|
77 |
203 |
1.78e-7 |
SMART |
Blast:cNMP
|
247 |
314 |
3e-19 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133751
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
T |
8: 106,436,668 (GRCm39) |
D288V |
probably damaging |
Het |
Agtr1a |
G |
A |
13: 30,565,021 (GRCm39) |
V29I |
probably benign |
Het |
Akap6 |
G |
T |
12: 52,933,600 (GRCm39) |
C364F |
probably damaging |
Het |
Calcrl |
T |
G |
2: 84,200,793 (GRCm39) |
M84L |
probably benign |
Het |
Cep128 |
C |
A |
12: 91,197,616 (GRCm39) |
G402C |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,785,624 (GRCm39) |
L422P |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,182,016 (GRCm39) |
|
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,731,745 (GRCm39) |
S134P |
probably damaging |
Het |
Dync2h1 |
A |
C |
9: 7,114,922 (GRCm39) |
L179R |
possibly damaging |
Het |
Ell |
T |
A |
8: 71,034,331 (GRCm39) |
|
probably benign |
Het |
Gfm1 |
A |
G |
3: 67,363,994 (GRCm39) |
E490G |
probably benign |
Het |
Glt1d1 |
T |
G |
5: 127,709,419 (GRCm39) |
|
probably benign |
Het |
Gm10267 |
A |
T |
18: 44,292,342 (GRCm39) |
I10K |
possibly damaging |
Het |
Htra4 |
A |
G |
8: 25,515,727 (GRCm39) |
V437A |
probably damaging |
Het |
Ighv1-69 |
T |
C |
12: 115,587,061 (GRCm39) |
Q24R |
possibly damaging |
Het |
Igkv14-111 |
G |
A |
6: 68,233,443 (GRCm39) |
|
probably benign |
Het |
Ipcef1 |
A |
T |
10: 6,840,575 (GRCm39) |
I374N |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,373,648 (GRCm39) |
D1447G |
possibly damaging |
Het |
Mast4 |
A |
G |
13: 102,873,749 (GRCm39) |
F1681S |
probably damaging |
Het |
Mmp3 |
A |
T |
9: 7,446,946 (GRCm39) |
N42I |
possibly damaging |
Het |
Mybpc1 |
G |
T |
10: 88,406,507 (GRCm39) |
F126L |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,266,652 (GRCm39) |
K631E |
probably damaging |
Het |
Or8b43 |
A |
C |
9: 38,360,942 (GRCm39) |
Y258S |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,411,144 (GRCm39) |
|
probably benign |
Het |
Serpina3b |
T |
G |
12: 104,097,091 (GRCm39) |
L124R |
probably damaging |
Het |
Srgap2 |
T |
C |
1: 131,224,164 (GRCm39) |
I95V |
probably benign |
Het |
Sstr5 |
A |
T |
17: 25,710,584 (GRCm39) |
I215N |
probably damaging |
Het |
Top3b |
G |
A |
16: 16,698,468 (GRCm39) |
V104M |
probably benign |
Het |
Tspan8 |
G |
A |
10: 115,653,570 (GRCm39) |
|
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,898,020 (GRCm39) |
Y345C |
probably damaging |
Het |
Vmn2r17 |
G |
A |
5: 109,577,364 (GRCm39) |
G472S |
probably damaging |
Het |
Zmpste24 |
A |
T |
4: 120,918,308 (GRCm39) |
L438Q |
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 |
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 |
R5446:Cnbd2
|
UTSW |
2 |
156,209,581 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
|
Posted On |
2014-01-21 |