Incidental Mutation 'R2414:Cpn2'
ID |
250120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpn2
|
Ensembl Gene |
ENSMUSG00000023176 |
Gene Name |
carboxypeptidase N, polypeptide 2 |
Synonyms |
1300018K11Rik |
MMRRC Submission |
040378-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R2414 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
30075196-30086317 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30079392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 103
(E103G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064856]
|
AlphaFold |
Q9DBB9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064856
AA Change: E103G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000069318 Gene: ENSMUSG00000023176 AA Change: E103G
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 |
|
Meta Mutation Damage Score |
0.0919 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
C |
A |
9: 121,738,040 (GRCm39) |
S138R |
probably damaging |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
Arfgef2 |
A |
G |
2: 166,687,424 (GRCm39) |
E216G |
probably benign |
Het |
Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
AU040320 |
A |
T |
4: 126,762,484 (GRCm39) |
|
probably null |
Het |
BC002059 |
T |
C |
17: 17,193,932 (GRCm39) |
|
noncoding transcript |
Het |
Cep112 |
A |
G |
11: 108,643,408 (GRCm39) |
N799S |
possibly damaging |
Het |
Cilp |
A |
G |
9: 65,181,927 (GRCm39) |
|
probably benign |
Het |
Cpt1b |
G |
A |
15: 89,304,283 (GRCm39) |
|
probably benign |
Het |
Epor |
T |
A |
9: 21,870,785 (GRCm39) |
D365V |
probably damaging |
Het |
H2bc21 |
T |
A |
3: 96,128,750 (GRCm39) |
I90N |
possibly damaging |
Het |
Hip1r |
T |
C |
5: 124,139,306 (GRCm39) |
Y900H |
probably damaging |
Het |
Hoxc9 |
A |
T |
15: 102,892,540 (GRCm39) |
N251I |
probably damaging |
Het |
Hpd |
C |
T |
5: 123,315,587 (GRCm39) |
|
probably null |
Het |
Lrrc34 |
T |
A |
3: 30,688,711 (GRCm39) |
I197L |
probably benign |
Het |
Msi2 |
A |
G |
11: 88,607,373 (GRCm39) |
V78A |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,141,594 (GRCm39) |
I818V |
probably benign |
Het |
Nol4 |
T |
C |
18: 22,956,629 (GRCm39) |
|
probably null |
Het |
Plekha5 |
A |
G |
6: 140,496,582 (GRCm39) |
N362S |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,945,054 (GRCm39) |
|
probably benign |
Het |
Rc3h2 |
A |
T |
2: 37,289,831 (GRCm39) |
|
probably null |
Het |
Sgsm3 |
A |
G |
15: 80,890,946 (GRCm39) |
N136D |
probably benign |
Het |
Slco1a5 |
A |
G |
6: 142,181,976 (GRCm39) |
C583R |
probably damaging |
Het |
Surf1 |
A |
G |
2: 26,806,295 (GRCm39) |
W13R |
probably damaging |
Het |
Tesk2 |
T |
C |
4: 116,658,954 (GRCm39) |
W276R |
possibly damaging |
Het |
Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
Togaram2 |
T |
G |
17: 72,023,304 (GRCm39) |
|
probably benign |
Het |
Ttll11 |
A |
G |
2: 35,869,546 (GRCm39) |
S31P |
unknown |
Het |
Ttll8 |
A |
G |
15: 88,820,336 (GRCm39) |
|
probably benign |
Het |
Tub |
A |
G |
7: 108,626,240 (GRCm39) |
K259E |
probably damaging |
Het |
Ube2o |
T |
C |
11: 116,439,683 (GRCm39) |
I162M |
probably benign |
Het |
Vamp8 |
C |
T |
6: 72,365,326 (GRCm39) |
M1I |
probably null |
Het |
Zfp503 |
C |
A |
14: 22,036,032 (GRCm39) |
G295* |
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 |
R3842:Cpn2
|
UTSW |
16 |
30,079,336 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGATCCCTCAGAGACTGGAATAG -3'
(R):5'- AGGTCTTCTGCTCAGACGAG -3'
Sequencing Primer
(F):5'- AATAGTCTCCCGGGCAAGGTTC -3'
(R):5'- AGCAGCTGGCCGACATC -3'
|
Posted On |
2014-11-12 |