Incidental Mutation 'IGL01146:Cnbd2'
| ID |
50635 |
| 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: 0.067)
|
| Stock # |
IGL01146
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
156154219-156217558 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 156154534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037096]
[ENSMUST00000037401]
[ENSMUST00000073942]
[ENSMUST00000079125]
[ENSMUST00000109580]
|
| AlphaFold |
Q9D5U8 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000037096
AA Change: S28T
|
| SMART Domains |
Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085
AA Change: S28T
| 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: ENSMUST00000037401
|
| SMART Domains |
Protein: ENSMUSP00000043138
Gene: ENSMUSG00000038116
| Domain | Start | End | E-Value | Type |
|---|
|
TUDOR
|
11 |
71 |
5.27e0 |
SMART |
|
TUDOR
|
85 |
141 |
7.13e-4 |
SMART |
|
AT_hook
|
257 |
269 |
1.65e0 |
SMART |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
455 |
480 |
1.86e0 |
SMART |
|
low complexity region
|
486 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
|
PHD
|
657 |
701 |
2.83e-4 |
SMART |
|
coiled coil region
|
945 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073942
|
| SMART Domains |
Protein: ENSMUSP00000073598
Gene: ENSMUSG00000038085
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
89 |
215 |
1.78e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079125
|
| SMART Domains |
Protein: ENSMUSP00000105211
Gene: ENSMUSG00000046229
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
48 |
N/A |
INTRINSIC |
|
SCAN
|
67 |
141 |
1.89e-14 |
SMART |
|
| 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: ENSMUST00000125395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152617
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
C |
6: 40,943,217 (GRCm39) |
I54T |
probably damaging |
Het |
| Acss2 |
T |
C |
2: 155,403,957 (GRCm39) |
V701A |
possibly damaging |
Het |
| Adam6a |
A |
T |
12: 113,507,840 (GRCm39) |
Y71F |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,651,081 (GRCm39) |
I148N |
possibly damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,641,901 (GRCm39) |
S282P |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,403,220 (GRCm39) |
Q257L |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,271,770 (GRCm39) |
|
probably benign |
Het |
| Calcr |
T |
A |
6: 3,700,144 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Ccdc186 |
T |
C |
19: 56,797,749 (GRCm39) |
E274G |
probably damaging |
Het |
| Cdc34b |
G |
T |
11: 94,633,420 (GRCm39) |
D207Y |
probably benign |
Het |
| Chst5 |
C |
T |
8: 112,617,314 (GRCm39) |
C102Y |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,612,591 (GRCm39) |
|
probably null |
Het |
| Dnm1l |
T |
C |
16: 16,132,189 (GRCm39) |
D549G |
probably benign |
Het |
| Gm4847 |
T |
A |
1: 166,462,521 (GRCm39) |
D323V |
probably damaging |
Het |
| Gm9843 |
G |
A |
16: 76,200,255 (GRCm39) |
|
noncoding transcript |
Het |
| Gopc |
A |
G |
10: 52,234,963 (GRCm39) |
V120A |
probably benign |
Het |
| Kmt2c |
T |
G |
5: 25,513,510 (GRCm39) |
M3095L |
probably damaging |
Het |
| Man1a |
T |
C |
10: 53,783,615 (GRCm39) |
E629G |
possibly damaging |
Het |
| Pde4b |
T |
A |
4: 102,112,460 (GRCm39) |
S12T |
possibly damaging |
Het |
| Phf2 |
A |
T |
13: 48,973,083 (GRCm39) |
L391Q |
unknown |
Het |
| Phf8-ps |
A |
G |
17: 33,284,357 (GRCm39) |
L815S |
possibly damaging |
Het |
| Plekha7 |
G |
A |
7: 115,756,708 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
T |
A |
5: 21,945,476 (GRCm39) |
|
probably benign |
Het |
| Poc1a |
T |
C |
9: 106,182,503 (GRCm39) |
Y285H |
probably benign |
Het |
| Polr1e |
T |
C |
4: 45,031,369 (GRCm39) |
L387S |
probably damaging |
Het |
| Prr9 |
A |
T |
3: 92,030,504 (GRCm39) |
C45* |
probably null |
Het |
| Rnf157 |
T |
C |
11: 116,240,912 (GRCm39) |
H393R |
probably benign |
Het |
| Rps6ka4 |
A |
G |
19: 6,808,496 (GRCm39) |
F554L |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,576,275 (GRCm39) |
S861P |
probably damaging |
Het |
| Sh3tc2 |
G |
T |
18: 62,122,582 (GRCm39) |
D448Y |
probably damaging |
Het |
| Smg6 |
T |
G |
11: 74,821,254 (GRCm39) |
Y508* |
probably null |
Het |
| Sult6b2 |
C |
T |
6: 142,750,034 (GRCm39) |
G28D |
probably benign |
Het |
| Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
Het |
|
| Other mutations in Cnbd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation