Incidental Mutation 'R2384:Cnp'
| ID |
247654 |
| 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 |
040358-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2384 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100465765-100472565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100467279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 74
(Y74C)
|
| 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: Y74C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099409
Gene: ENSMUSG00000006782
AA Change: Y74C
| 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
|
| Meta Mutation Damage Score |
0.9142 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4933414I15Rik |
A |
G |
11: 50,833,333 (GRCm39) |
S90P |
unknown |
Het |
| Abca13 |
T |
C |
11: 9,217,450 (GRCm39) |
|
probably benign |
Het |
| Chpf |
C |
T |
1: 75,451,753 (GRCm39) |
R567H |
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,261,406 (GRCm39) |
V273D |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,951,591 (GRCm39) |
Y656C |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,470,288 (GRCm39) |
E107V |
possibly damaging |
Het |
| Fscn2 |
T |
C |
11: 120,257,559 (GRCm39) |
S307P |
possibly damaging |
Het |
| Grm5 |
A |
G |
7: 87,251,936 (GRCm39) |
E62G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,912,207 (GRCm39) |
Y394C |
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,306 (GRCm39) |
I314T |
probably damaging |
Het |
| Hsd17b12 |
T |
A |
2: 93,863,964 (GRCm39) |
I293L |
probably benign |
Het |
| Il36g |
A |
G |
2: 24,082,660 (GRCm39) |
H145R |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,814,864 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,558,976 (GRCm39) |
S369G |
probably damaging |
Het |
| Klrh1 |
T |
A |
6: 129,749,343 (GRCm39) |
H84L |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,753,261 (GRCm39) |
|
probably null |
Het |
| Nlrp4g |
A |
G |
9: 124,349,707 (GRCm38) |
|
noncoding transcript |
Het |
| Obscn |
A |
G |
11: 58,933,663 (GRCm39) |
|
probably null |
Het |
| Ogdh |
C |
A |
11: 6,292,526 (GRCm39) |
A413D |
probably damaging |
Het |
| Podn |
T |
C |
4: 107,879,269 (GRCm39) |
E283G |
probably damaging |
Het |
| Ripk1 |
A |
G |
13: 34,214,026 (GRCm39) |
D456G |
probably benign |
Het |
| Saxo4 |
A |
C |
19: 10,458,646 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
C |
9: 75,573,008 (GRCm39) |
T308A |
probably damaging |
Het |
| Sele |
A |
G |
1: 163,878,344 (GRCm39) |
T228A |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,393 (GRCm39) |
E138G |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,204 (GRCm39) |
V104A |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,709,852 (GRCm39) |
R479W |
probably damaging |
Het |
| Trim26 |
C |
T |
17: 37,161,781 (GRCm39) |
P67S |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,378 (GRCm39) |
Y787C |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,424,074 (GRCm39) |
V1447D |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,199 (GRCm39) |
A527T |
probably damaging |
Het |
| Ucp2 |
A |
G |
7: 100,147,461 (GRCm39) |
I172V |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,749,220 (GRCm39) |
Y903N |
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 |
|
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 |
|
R5559:Cnp
|
UTSW |
11 |
100,467,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCCCAAGCTCTTCTTCAGG -3'
(R):5'- TTGAGCTGGGCACAGTCTAGTC -3'
Sequencing Primer
(F):5'- CTTCAGGAAAATGTCATCCTCAGGAG -3'
(R):5'- CTGGTCTGCCATTTCAAAAAGCTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation