Incidental Mutation 'R9734:Cnbd2'
| ID |
731596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnbd2
|
| Ensembl Gene |
ENSMUSG00000038085 |
| Gene Name |
cyclic nucleotide binding domain containing 2 |
| Synonyms |
4921517L17Rik, 5430421B09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R9734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156154219-156217558 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 156180540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 241
(N241K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037096]
[ENSMUST00000073942]
[ENSMUST00000109580]
|
| AlphaFold |
Q9D5U8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037096
AA Change: N241K
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085
AA Change: N241K
| 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: ENSMUST00000073942
AA Change: N124K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073598
Gene: ENSMUSG00000038085
AA Change: N124K
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
89 |
215 |
1.78e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109580
AA Change: N112K
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105208
Gene: ENSMUSG00000038085
AA Change: N112K
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
77 |
203 |
1.78e-7 |
SMART |
|
Blast:cNMP
|
247 |
314 |
3e-19 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
A |
4: 152,345,474 (GRCm39) |
V348E |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,763,199 (GRCm39) |
L1270P |
probably damaging |
Het |
| Akap12 |
C |
T |
10: 4,305,929 (GRCm39) |
T1018M |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Bod1l |
A |
T |
5: 41,962,573 (GRCm39) |
D2721E |
possibly damaging |
Het |
| Bri3bp |
G |
T |
5: 125,518,736 (GRCm39) |
R4L |
unknown |
Het |
| Cpne2 |
A |
G |
8: 95,295,228 (GRCm39) |
I438V |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,962 (GRCm39) |
T732A |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dbt |
T |
C |
3: 116,339,704 (GRCm39) |
V364A |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fsip1 |
T |
A |
2: 118,070,916 (GRCm39) |
Q258L |
probably benign |
Het |
| Gabrg3 |
A |
G |
7: 56,634,908 (GRCm39) |
Y92H |
probably damaging |
Het |
| Grid1 |
C |
A |
14: 35,302,742 (GRCm39) |
D1002E |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,726,605 (GRCm39) |
C565* |
probably null |
Het |
| Iqce |
G |
T |
5: 140,678,564 (GRCm39) |
R127S |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,682,320 (GRCm39) |
E1095D |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Mmp25 |
C |
T |
17: 23,850,834 (GRCm39) |
V367M |
possibly damaging |
Het |
| Mucl3 |
T |
A |
17: 35,949,233 (GRCm39) |
D122V |
probably benign |
Het |
| Or10d4c |
T |
C |
9: 39,558,202 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,239 (GRCm39) |
I167N |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,057,737 (GRCm39) |
M115V |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 88,996,496 (GRCm39) |
S696T |
probably damaging |
Het |
| Scamp2 |
T |
G |
9: 57,490,175 (GRCm39) |
F225V |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,064,560 (GRCm39) |
H210R |
possibly damaging |
Het |
| Vil1 |
T |
C |
1: 74,454,309 (GRCm39) |
I24T |
possibly damaging |
Het |
| Vmn1r218 |
T |
A |
13: 23,321,034 (GRCm39) |
L127H |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,492 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,757 (GRCm39) |
T332S |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
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 |
|
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 |
|
X0002:Cnbd2
|
UTSW |
2 |
156,180,617 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGCTACGTGTGAGTGAAG -3'
(R):5'- CCTGGGTAAGAGGTTGAAGC -3'
Sequencing Primer
(F):5'- TACGTGTGAGTGAAGGGCCC -3'
(R):5'- AGGTTGAAGCAGGCGTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation