Incidental Mutation 'R3842:Cpn2'
| ID |
277223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpn2
|
| Ensembl Gene |
ENSMUSG00000023176 |
| Gene Name |
carboxypeptidase N, polypeptide 2 |
| Synonyms |
1300018K11Rik |
| MMRRC Submission |
040782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3842 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
30075196-30086317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30079336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 122
(S122P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064856]
|
| AlphaFold |
Q9DBB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064856
AA Change: S122P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069318
Gene: ENSMUSG00000023176
AA Change: S122P
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
21 |
53 |
3.21e-8 |
SMART |
|
LRR
|
96 |
119 |
1.22e2 |
SMART |
|
LRR
|
120 |
143 |
5.11e0 |
SMART |
|
LRR_TYP
|
144 |
167 |
2.71e-2 |
SMART |
|
LRR_TYP
|
168 |
191 |
3.21e-4 |
SMART |
|
LRR_TYP
|
192 |
215 |
5.9e-3 |
SMART |
|
LRR_TYP
|
216 |
239 |
6.88e-4 |
SMART |
|
LRR
|
240 |
263 |
6.57e-1 |
SMART |
|
LRR_TYP
|
264 |
287 |
2.12e-4 |
SMART |
|
LRR
|
289 |
311 |
3.07e-1 |
SMART |
|
LRR_TYP
|
312 |
335 |
2.61e-4 |
SMART |
|
LRR_TYP
|
336 |
359 |
5.9e-3 |
SMART |
|
LRR_TYP
|
360 |
383 |
2.79e-4 |
SMART |
|
LRRCT
|
395 |
446 |
7.34e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231234
|
| Meta Mutation Damage Score |
0.2144 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
C |
T |
14: 8,251,543 (GRCm38) |
R318H |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,887,010 (GRCm39) |
Y958C |
possibly damaging |
Het |
| Apol7e |
A |
G |
15: 77,601,789 (GRCm39) |
E129G |
probably damaging |
Het |
| Bmp2k |
A |
G |
5: 97,235,010 (GRCm39) |
|
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,814,966 (GRCm39) |
H26R |
probably damaging |
Het |
| Dhcr24 |
G |
T |
4: 106,443,002 (GRCm39) |
G346C |
probably damaging |
Het |
| Egf |
G |
A |
3: 129,491,442 (GRCm39) |
R351* |
probably null |
Het |
| Exosc10 |
T |
A |
4: 148,648,322 (GRCm39) |
Y260* |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
| Fbxo30 |
A |
G |
10: 11,165,856 (GRCm39) |
S193G |
probably damaging |
Het |
| Grik3 |
T |
C |
4: 125,587,747 (GRCm39) |
|
probably benign |
Het |
| Gtf3c6 |
A |
T |
10: 40,130,317 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Hmgb2 |
T |
A |
8: 57,966,388 (GRCm39) |
S121T |
probably benign |
Het |
| Hyal2 |
T |
C |
9: 107,449,320 (GRCm39) |
S359P |
probably damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,077,977 (GRCm39) |
T156A |
possibly damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,640,119 (GRCm39) |
Q1555K |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,352,619 (GRCm39) |
V349A |
probably damaging |
Het |
| Naa40 |
A |
T |
19: 7,207,174 (GRCm39) |
|
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,231,698 (GRCm39) |
Y54C |
probably damaging |
Het |
| Nemf |
C |
T |
12: 69,378,723 (GRCm39) |
S533N |
probably damaging |
Het |
| Nkain1 |
T |
A |
4: 130,537,296 (GRCm38) |
I80F |
probably damaging |
Het |
| Or10ak12 |
A |
G |
4: 118,666,452 (GRCm39) |
V203A |
probably damaging |
Het |
| Or2ag13 |
G |
A |
7: 106,473,302 (GRCm39) |
T50I |
probably benign |
Het |
| Or9k2 |
G |
A |
10: 129,998,770 (GRCm39) |
R142C |
probably benign |
Het |
| Pde3b |
T |
C |
7: 114,126,102 (GRCm39) |
S779P |
probably damaging |
Het |
| Prkar2a |
A |
G |
9: 108,605,467 (GRCm39) |
Y175C |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,967,031 (GRCm39) |
|
probably benign |
Het |
| Smgc |
T |
A |
15: 91,744,460 (GRCm39) |
|
probably benign |
Het |
| Tasp1 |
T |
A |
2: 139,793,421 (GRCm39) |
S252C |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,098,314 (GRCm39) |
Y489N |
probably damaging |
Het |
| Topors |
C |
T |
4: 40,262,123 (GRCm39) |
R387H |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,619,963 (GRCm39) |
S15902P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,680,647 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cpn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00895:Cpn2
|
APN |
16 |
30,079,338 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01954:Cpn2
|
APN |
16 |
30,079,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02458:Cpn2
|
APN |
16 |
30,079,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03036:Cpn2
|
APN |
16 |
30,079,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB002:Cpn2
|
UTSW |
16 |
30,079,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB012:Cpn2
|
UTSW |
16 |
30,079,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Cpn2
|
UTSW |
16 |
30,079,186 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0541:Cpn2
|
UTSW |
16 |
30,078,169 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1300:Cpn2
|
UTSW |
16 |
30,078,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1470:Cpn2
|
UTSW |
16 |
30,079,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Cpn2
|
UTSW |
16 |
30,079,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1751:Cpn2
|
UTSW |
16 |
30,078,485 (GRCm39) |
nonsense |
probably null |
|
|
R1753:Cpn2
|
UTSW |
16 |
30,078,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Cpn2
|
UTSW |
16 |
30,079,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Cpn2
|
UTSW |
16 |
30,078,485 (GRCm39) |
nonsense |
probably null |
|
|
R1793:Cpn2
|
UTSW |
16 |
30,078,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Cpn2
|
UTSW |
16 |
30,078,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2414:Cpn2
|
UTSW |
16 |
30,079,392 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4934:Cpn2
|
UTSW |
16 |
30,079,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4956:Cpn2
|
UTSW |
16 |
30,079,233 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5593:Cpn2
|
UTSW |
16 |
30,078,898 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5864:Cpn2
|
UTSW |
16 |
30,078,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Cpn2
|
UTSW |
16 |
30,079,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7833:Cpn2
|
UTSW |
16 |
30,079,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7925:Cpn2
|
UTSW |
16 |
30,079,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Cpn2
|
UTSW |
16 |
30,078,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Cpn2
|
UTSW |
16 |
30,078,085 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8844:Cpn2
|
UTSW |
16 |
30,078,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9406:Cpn2
|
UTSW |
16 |
30,078,360 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9523:Cpn2
|
UTSW |
16 |
30,078,759 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
RF021:Cpn2
|
UTSW |
16 |
30,078,156 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGGCAGCTGTGTCAGGAG -3'
(R):5'- CAGACATTGTCTTTGTGGAGACTG -3'
Sequencing Primer
(F):5'- TCAGGAGGTTCTGAGCCAG -3'
(R):5'- TGGAGACTGCCTTCACCAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation