Incidental Mutation 'R2352:Cnbd2'
ID |
246180 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnbd2
|
Ensembl Gene |
ENSMUSG00000038085 |
Gene Name |
cyclic nucleotide binding domain containing 2 |
Synonyms |
4921517L17Rik, 5430421B09Rik |
MMRRC Submission |
040334-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R2352 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
156154219-156217558 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 156177275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 90
(Y90H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037096]
[ENSMUST00000073942]
[ENSMUST00000109580]
|
AlphaFold |
Q9D5U8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037096
AA Change: Y207H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041268 Gene: ENSMUSG00000038085 AA Change: Y207H
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: Y90H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073598 Gene: ENSMUSG00000038085 AA Change: Y90H
Domain | Start | End | E-Value | Type |
cNMP
|
89 |
215 |
1.78e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109580
AA Change: Y78H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105208 Gene: ENSMUSG00000038085 AA Change: Y78H
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd28 |
C |
T |
14: 31,432,904 (GRCm39) |
V548I |
probably benign |
Het |
Aspm |
T |
C |
1: 139,385,300 (GRCm39) |
S315P |
probably benign |
Het |
Caln1 |
G |
T |
5: 130,534,993 (GRCm39) |
E70* |
probably null |
Het |
Cd69 |
A |
T |
6: 129,246,567 (GRCm39) |
W114R |
probably damaging |
Het |
Crebrf |
C |
T |
17: 26,961,320 (GRCm39) |
S147F |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,500,586 (GRCm39) |
C320* |
probably null |
Het |
Dgat1 |
T |
C |
15: 76,386,513 (GRCm39) |
I474V |
possibly damaging |
Het |
Dmxl2 |
T |
A |
9: 54,301,146 (GRCm39) |
I2322F |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 117,892,065 (GRCm39) |
F3703I |
probably damaging |
Het |
Foxb2 |
A |
G |
19: 16,850,433 (GRCm39) |
L191P |
unknown |
Het |
Gli3 |
A |
T |
13: 15,836,977 (GRCm39) |
E453D |
probably benign |
Het |
Gnl3 |
C |
T |
14: 30,738,783 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
T |
16: 36,718,921 (GRCm39) |
T276S |
probably damaging |
Het |
Grk4 |
T |
C |
5: 34,826,520 (GRCm39) |
M40T |
probably benign |
Het |
Hoxb1 |
A |
G |
11: 96,257,203 (GRCm39) |
N184S |
possibly damaging |
Het |
Insr |
G |
T |
8: 3,242,593 (GRCm39) |
T42N |
probably damaging |
Het |
Iqgap3 |
A |
G |
3: 88,011,815 (GRCm39) |
K836E |
possibly damaging |
Het |
Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
Leng9 |
T |
A |
7: 4,152,409 (GRCm39) |
E89V |
probably damaging |
Het |
Lhcgr |
C |
T |
17: 89,049,727 (GRCm39) |
V600I |
possibly damaging |
Het |
Lima1 |
T |
C |
15: 99,692,396 (GRCm39) |
N183S |
probably benign |
Het |
Lmtk2 |
A |
G |
5: 144,110,729 (GRCm39) |
D483G |
probably benign |
Het |
Lpcat2b |
T |
G |
5: 107,581,307 (GRCm39) |
L212R |
probably damaging |
Het |
Lrrc61 |
A |
T |
6: 48,545,806 (GRCm39) |
I210F |
probably benign |
Het |
Lypd8l |
A |
T |
11: 58,503,676 (GRCm39) |
L10H |
probably damaging |
Het |
Lypd8l |
G |
A |
11: 58,502,934 (GRCm39) |
Q72* |
probably null |
Het |
Med12l |
C |
T |
3: 59,148,113 (GRCm39) |
L977F |
probably damaging |
Het |
Mical1 |
A |
T |
10: 41,358,229 (GRCm39) |
D414V |
probably benign |
Het |
Mmp14 |
C |
T |
14: 54,678,002 (GRCm39) |
A541V |
probably benign |
Het |
Mtmr10 |
A |
G |
7: 63,947,328 (GRCm39) |
D81G |
possibly damaging |
Het |
Myh1 |
G |
A |
11: 67,111,363 (GRCm39) |
V1601M |
probably benign |
Het |
Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,177,348 (GRCm39) |
Y1331C |
probably damaging |
Het |
Otop2 |
T |
C |
11: 115,219,927 (GRCm39) |
S256P |
probably damaging |
Het |
Prl8a1 |
A |
G |
13: 27,759,572 (GRCm39) |
L155P |
probably damaging |
Het |
Rrp1b |
A |
T |
17: 32,278,302 (GRCm39) |
M658L |
possibly damaging |
Het |
Sema4b |
C |
A |
7: 79,870,627 (GRCm39) |
A525D |
probably damaging |
Het |
Slc13a5 |
T |
A |
11: 72,143,147 (GRCm39) |
I369F |
probably benign |
Het |
Slc22a18 |
T |
C |
7: 143,051,152 (GRCm39) |
S344P |
probably benign |
Het |
Slc25a4 |
A |
C |
8: 46,662,212 (GRCm39) |
S149A |
probably benign |
Het |
Smc2 |
A |
T |
4: 52,460,266 (GRCm39) |
E547D |
probably benign |
Het |
Stx8 |
A |
G |
11: 67,864,077 (GRCm39) |
T46A |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,560,631 (GRCm39) |
V190A |
probably benign |
Het |
Tdrkh |
A |
T |
3: 94,336,467 (GRCm39) |
K468M |
possibly damaging |
Het |
Tmem145 |
T |
C |
7: 25,005,598 (GRCm39) |
S4P |
probably benign |
Het |
Tmem74 |
A |
G |
15: 43,730,506 (GRCm39) |
I179T |
probably damaging |
Het |
Vmn1r222 |
A |
C |
13: 23,416,683 (GRCm39) |
W177G |
probably benign |
Het |
Zfp426 |
T |
C |
9: 20,381,401 (GRCm39) |
I529V |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,008,313 (GRCm39) |
Y93C |
probably null |
Het |
Zfyve26 |
G |
A |
12: 79,330,890 (GRCm39) |
T443I |
probably damaging |
Het |
Zkscan16 |
A |
C |
4: 58,951,869 (GRCm39) |
R181S |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCACTCTGATGGTTGGCAC -3'
(R):5'- AGTGACTAAGCTGTGCTGCTAC -3'
Sequencing Primer
(F):5'- CAGCTCTTCCCGTGAGTAGAATG -3'
(R):5'- AAGCTGTGCTGCTACCCTTC -3'
|
Posted On |
2014-10-30 |