Incidental Mutation 'R1592:Cnbd2'
ID |
175660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cnbd2
|
Ensembl Gene |
ENSMUSG00000038085 |
Gene Name |
cyclic nucleotide binding domain containing 2 |
Synonyms |
4921517L17Rik, 5430421B09Rik |
MMRRC Submission |
039629-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R1592 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
156154219-156217558 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 156177322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 222
(I222M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037096]
[ENSMUST00000073942]
[ENSMUST00000109580]
|
AlphaFold |
Q9D5U8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037096
AA Change: I222M
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000041268 Gene: ENSMUSG00000038085 AA Change: I222M
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: ENSMUST00000073942
AA Change: I105M
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000073598 Gene: ENSMUSG00000038085 AA Change: I105M
Domain | Start | End | E-Value | Type |
cNMP
|
89 |
215 |
1.78e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109580
AA Change: I93M
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105208 Gene: ENSMUSG00000038085 AA Change: I93M
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
100% (51/51) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
Adamts8 |
T |
C |
9: 30,854,472 (GRCm39) |
S114P |
probably damaging |
Het |
Alkbh3 |
A |
C |
2: 93,838,769 (GRCm39) |
|
probably null |
Het |
Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
Aspg |
G |
A |
12: 112,086,406 (GRCm39) |
R220Q |
probably benign |
Het |
Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
Cc2d1b |
C |
T |
4: 108,483,868 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
T |
C |
2: 178,091,684 (GRCm39) |
F81S |
probably damaging |
Het |
Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
Fbln1 |
T |
A |
15: 85,115,665 (GRCm39) |
S234T |
probably benign |
Het |
Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
H2-T22 |
T |
C |
17: 36,352,469 (GRCm39) |
N152S |
probably damaging |
Het |
Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
Kcnj3 |
G |
T |
2: 55,327,898 (GRCm39) |
R229L |
probably damaging |
Het |
Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
Wdfy1 |
G |
A |
1: 79,683,972 (GRCm39) |
R388C |
probably damaging |
Het |
Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTAAGGGGCGGGACATTCTGTG -3'
(R):5'- TTCCAGGACTGTCATCTGAGGAGG -3'
Sequencing Primer
(F):5'- CAGCTCTTCCCGTGAGTAGAATG -3'
(R):5'- GACTCTCAGTAAGTGACTAAGCTGTG -3'
|
Posted On |
2014-04-24 |