Incidental Mutation 'R9715:Cnbd2'
| ID |
730379 |
| 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 # |
R9715 (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 C
at 156183547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 338
(S338P)
|
| 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: S338P
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000041268
Gene: ENSMUSG00000038085
AA Change: S338P
| 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: S221P
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073598
Gene: ENSMUSG00000038085
AA Change: S221P
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
89 |
215 |
1.78e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109580
AA Change: S209P
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105208
Gene: ENSMUSG00000038085
AA Change: S209P
| Domain | Start | End | E-Value | Type |
|---|
|
cNMP
|
77 |
203 |
1.78e-7 |
SMART |
|
Blast:cNMP
|
247 |
314 |
3e-19 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
C |
T |
7: 45,629,359 (GRCm39) |
V1323I |
probably damaging |
Het |
| Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
| Ahnak |
GATCTCTAT |
GAT |
19: 8,984,393 (GRCm39) |
|
probably benign |
Het |
| Cbr3 |
A |
G |
16: 93,481,941 (GRCm39) |
D99G |
probably benign |
Het |
| Ccdc17 |
T |
A |
4: 116,455,090 (GRCm39) |
L215Q |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,751,107 (GRCm39) |
Y2022H |
probably benign |
Het |
| Cimip2c |
G |
C |
5: 30,641,261 (GRCm39) |
D170H |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,787,029 (GRCm39) |
V113D |
possibly damaging |
Het |
| Dhx30 |
A |
G |
9: 109,916,718 (GRCm39) |
F570S |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 101,848,384 (GRCm39) |
N679S |
probably damaging |
Het |
| Faxc |
T |
C |
4: 21,993,307 (GRCm39) |
I317T |
probably damaging |
Het |
| Fgd5 |
T |
C |
6: 91,965,290 (GRCm39) |
Y508H |
possibly damaging |
Het |
| Foxd2 |
G |
T |
4: 114,765,195 (GRCm39) |
A275E |
unknown |
Het |
| Fut9 |
C |
A |
4: 25,620,679 (GRCm39) |
S45I |
probably benign |
Het |
| Gm5148 |
T |
C |
3: 37,768,801 (GRCm39) |
N140D |
unknown |
Het |
| Gpr37l1 |
C |
T |
1: 135,089,391 (GRCm39) |
G225S |
probably damaging |
Het |
| Gramd1c |
G |
A |
16: 43,825,840 (GRCm39) |
S107L |
possibly damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,478,301 (GRCm39) |
D483G |
|
Het |
| Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
| Ino80e |
A |
T |
7: 126,461,098 (GRCm39) |
Y50N |
unknown |
Het |
| Irag1 |
A |
T |
7: 110,470,640 (GRCm39) |
S898T |
possibly damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,566 (GRCm39) |
V390A |
probably benign |
Het |
| Limch1 |
A |
C |
5: 67,156,360 (GRCm39) |
N276H |
probably damaging |
Het |
| Negr1 |
T |
G |
3: 156,774,936 (GRCm39) |
|
probably null |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nlrp14 |
G |
A |
7: 106,781,626 (GRCm39) |
M274I |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,662,943 (GRCm39) |
I17V |
probably benign |
Het |
| Or10ad1b |
T |
A |
15: 98,124,902 (GRCm39) |
D210V |
probably damaging |
Het |
| Or4k35 |
T |
C |
2: 111,100,623 (GRCm39) |
I30V |
probably benign |
Het |
| Or5p64 |
A |
G |
7: 107,855,198 (GRCm39) |
I49T |
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,677,312 (GRCm39) |
V334A |
|
Het |
| Ppp1r9a |
G |
A |
6: 5,045,936 (GRCm39) |
V467I |
probably damaging |
Het |
| Ppp2r2c |
A |
G |
5: 37,097,488 (GRCm39) |
I225V |
possibly damaging |
Het |
| Ptpro |
A |
T |
6: 137,345,108 (GRCm39) |
N38I |
probably damaging |
Het |
| Scn2a |
C |
A |
2: 65,579,149 (GRCm39) |
Q1495K |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,519,902 (GRCm39) |
Y1001N |
possibly damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Sh3bgrl2 |
T |
A |
9: 83,430,513 (GRCm39) |
M1K |
probably null |
Het |
| Slc25a12 |
C |
T |
2: 71,109,899 (GRCm39) |
V516M |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,091,000 (GRCm39) |
L1402P |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Svop |
A |
G |
5: 114,198,169 (GRCm39) |
S135P |
probably benign |
Het |
| Sycp2 |
G |
T |
2: 178,035,957 (GRCm39) |
D243E |
probably damaging |
Het |
| Tcerg1 |
T |
C |
18: 42,706,413 (GRCm39) |
F1030S |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,286,596 (GRCm39) |
N687Y |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,081,759 (GRCm39) |
H1230Q |
|
Het |
| Tfap2b |
T |
C |
1: 19,284,373 (GRCm39) |
S94P |
probably damaging |
Het |
| Tll2 |
C |
A |
19: 41,092,238 (GRCm39) |
G533V |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,402,061 (GRCm39) |
V409A |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,145,373 (GRCm39) |
E194G |
probably damaging |
Het |
| Zan |
G |
T |
5: 137,398,817 (GRCm39) |
S4182R |
unknown |
Het |
| Zfpl1 |
T |
C |
19: 6,134,074 (GRCm39) |
Y40C |
probably damaging |
Het |
| Znrf3 |
C |
A |
11: 5,232,454 (GRCm39) |
R257L |
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 |
|
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 |
|
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'- TATAGAATCAGAGTGGGGTACTGC -3'
(R):5'- AAATATGTCTGCCTGGCCCG -3'
Sequencing Primer
(F):5'- GCAACCCCAGAGTTTGAGCAG -3'
(R):5'- CCCGAGGGCTTTAGATGAGAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation