Incidental Mutation 'IGL01825:Cnbd2'
| ID |
154653 |
| 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 # |
IGL01825
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
156154219-156217558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156180629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 142
(L142Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037096]
[ENSMUST00000073942]
[ENSMUST00000109580]
|
| AlphaFold |
Q9D5U8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037096
AA Change: L271Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085
AA Change: L271Q
| 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 damaging
Transcript: ENSMUST00000073942
AA Change: L154Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073598
Gene: ENSMUSG00000038085
AA Change: L154Q
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
89 |
215 |
1.78e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109580
AA Change: L142Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105208
Gene: ENSMUSG00000038085
AA Change: L142Q
| 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: ENSMUST00000131801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154227
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,069,217 (GRCm39) |
E222G |
probably damaging |
Het |
| Aftph |
T |
A |
11: 20,676,569 (GRCm39) |
I347F |
possibly damaging |
Het |
| Braf |
T |
C |
6: 39,616,524 (GRCm39) |
D549G |
probably damaging |
Het |
| Ctbp1 |
C |
T |
5: 33,416,477 (GRCm39) |
|
probably null |
Het |
| Cuta |
T |
C |
17: 27,157,438 (GRCm39) |
I98V |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,108,514 (GRCm39) |
C1226* |
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,042,759 (GRCm39) |
E3221G |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,561,600 (GRCm39) |
L750P |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,307,089 (GRCm39) |
Y970H |
probably benign |
Het |
| Hnrnpr |
T |
A |
4: 136,066,850 (GRCm39) |
Y470* |
probably null |
Het |
| Kmt2c |
T |
A |
5: 25,515,594 (GRCm39) |
I2750F |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,845,886 (GRCm39) |
T772S |
probably damaging |
Het |
| Mthfd2 |
T |
C |
6: 83,287,493 (GRCm39) |
T191A |
probably benign |
Het |
| Or5p78 |
C |
A |
7: 108,212,261 (GRCm39) |
T249K |
probably damaging |
Het |
| Pfkp |
A |
T |
13: 6,671,014 (GRCm39) |
N175K |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,949,642 (GRCm39) |
D451G |
probably benign |
Het |
| Plxna2 |
T |
A |
1: 194,471,210 (GRCm39) |
C994S |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,135,886 (GRCm39) |
I381T |
probably benign |
Het |
| Scgb2b24 |
G |
T |
7: 33,438,652 (GRCm39) |
T20K |
probably damaging |
Het |
| Slc23a1 |
A |
T |
18: 35,757,256 (GRCm39) |
W272R |
probably damaging |
Het |
| Tcf20 |
G |
A |
15: 82,737,167 (GRCm39) |
T1428I |
probably benign |
Het |
| Tnfsf9 |
A |
G |
17: 57,414,335 (GRCm39) |
D254G |
possibly damaging |
Het |
| Ttc4 |
C |
T |
4: 106,528,816 (GRCm39) |
|
probably null |
Het |
| Xdh |
A |
G |
17: 74,198,240 (GRCm39) |
Y1216H |
probably damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,753,889 (GRCm39) |
N159K |
possibly 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 |
|
|
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 |
2014-02-04 |
Incidental Mutation