Incidental Mutation 'R5559:Cnp'
| ID |
436466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnp
|
| Ensembl Gene |
ENSMUSG00000006782 |
| Gene Name |
2',3'-cyclic nucleotide 3' phosphodiesterase |
| Synonyms |
Cnp1, CNPase, Cnp-1 |
| MMRRC Submission |
043116-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5559 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100465765-100472565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100467243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 62
(G62V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006976]
[ENSMUST00000092684]
[ENSMUST00000103120]
|
| AlphaFold |
P16330 |
| PDB Structure |
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, complexed with citrate [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, complexed with citrate [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, complexed with sulfate [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, soaked with 2',3'-cyclic NADP [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, soaked with GTP [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, soaked with 2',3'-cyclic AMP [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, crystallized with 2'-AMPS [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, crystallized with 2'-AMPS [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, with mutation H309S, crystallized with 2',3-(SP)-Cyclic-AMPS [X-RAY DIFFRACTION]
Catalytic domain of mouse 2',3'-cyclic nucleotide 3'- phosphodiesterase, with mutation H309S, crystallized with 2',3'- cyclic AMP [X-RAY DIFFRACTION]
>> 5 additional structures at PDB <<
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006976
|
| SMART Domains |
Protein: ENSMUSP00000006976
Gene: ENSMUSG00000006784
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
11 |
44 |
3.69e1 |
SMART |
|
TPR
|
45 |
78 |
3.07e1 |
SMART |
|
TPR
|
79 |
112 |
4.96e0 |
SMART |
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
208 |
N/A |
INTRINSIC |
|
TPR
|
318 |
351 |
4.96e0 |
SMART |
|
TPR
|
358 |
391 |
1.11e1 |
SMART |
|
Blast:TPR
|
395 |
428 |
7e-14 |
BLAST |
|
TPR
|
435 |
468 |
2.99e1 |
SMART |
|
low complexity region
|
493 |
505 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092684
|
| SMART Domains |
Protein: ENSMUSP00000090355
Gene: ENSMUSG00000006784
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
11 |
44 |
3.69e1 |
SMART |
|
TPR
|
45 |
78 |
3.07e1 |
SMART |
|
TPR
|
79 |
112 |
4.96e0 |
SMART |
|
low complexity region
|
147 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
208 |
N/A |
INTRINSIC |
|
TPR
|
318 |
351 |
4.96e0 |
SMART |
|
TPR
|
358 |
391 |
1.11e1 |
SMART |
|
Blast:TPR
|
395 |
428 |
5e-14 |
BLAST |
|
TPR
|
435 |
468 |
2.99e1 |
SMART |
|
coiled coil region
|
528 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
567 |
N/A |
INTRINSIC |
|
coiled coil region
|
599 |
624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103120
AA Change: G62V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099409
Gene: ENSMUSG00000006782
AA Change: G62V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_33
|
52 |
175 |
8.9e-10 |
PFAM |
|
Pfam:CNPase
|
185 |
419 |
7.1e-118 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150414
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene results in ataxia, gait abnormalities, hindlimb paralysis, muscle weakness, convulsive seizures, weight loss, kyphosis, reactive gliosis, axonal swellings and degeneration, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
| Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
| Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
| Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
| Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
| Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
| Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
| Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
| Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
| Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
| P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
| Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
| Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
| Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
| Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
| Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
probably damaging |
Het |
|
| Other mutations in Cnp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02971:Cnp
|
APN |
11 |
100,467,525 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0004:Cnp
|
UTSW |
11 |
100,467,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0004:Cnp
|
UTSW |
11 |
100,467,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Cnp
|
UTSW |
11 |
100,469,734 (GRCm39) |
splice site |
probably null |
|
|
R0015:Cnp
|
UTSW |
11 |
100,469,734 (GRCm39) |
splice site |
probably null |
|
|
R0546:Cnp
|
UTSW |
11 |
100,471,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2384:Cnp
|
UTSW |
11 |
100,467,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Cnp
|
UTSW |
11 |
100,467,342 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4654:Cnp
|
UTSW |
11 |
100,469,877 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4898:Cnp
|
UTSW |
11 |
100,467,202 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7045:Cnp
|
UTSW |
11 |
100,471,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7225:Cnp
|
UTSW |
11 |
100,471,413 (GRCm39) |
nonsense |
probably null |
|
|
R7776:Cnp
|
UTSW |
11 |
100,469,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8350:Cnp
|
UTSW |
11 |
100,467,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8450:Cnp
|
UTSW |
11 |
100,467,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9616:Cnp
|
UTSW |
11 |
100,467,261 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9784:Cnp
|
UTSW |
11 |
100,467,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTCAACTGACAAGCGG -3'
(R):5'- ACAAGAACCCTGATGTCCCG -3'
Sequencing Primer
(F):5'- CCAGAGACTAGGGTGTGGTGC -3'
(R):5'- ATGTCCCGGCGGCAGTAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation