Incidental Mutation 'R2360:Cpn2'
| ID |
247129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpn2
|
| Ensembl Gene |
ENSMUSG00000023176 |
| Gene Name |
carboxypeptidase N, polypeptide 2 |
| Synonyms |
1300018K11Rik |
| MMRRC Submission |
040342-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R2360 (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 30078321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 460
(D460G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064856]
|
| AlphaFold |
Q9DBB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064856
AA Change: D460G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000069318
Gene: ENSMUSG00000023176
AA Change: D460G
| 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 |
0.0832 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
93% (37/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,274,214 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
| Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
| Crtam |
A |
G |
9: 40,884,811 (GRCm39) |
*393Q |
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
| Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 31,964,302 (GRCm39) |
S14P |
unknown |
Het |
| Med25 |
A |
G |
7: 44,534,566 (GRCm39) |
S150P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,517,070 (GRCm39) |
V71A |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
| Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
| Napa |
A |
G |
7: 15,848,083 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,345 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
| Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
| Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
| Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
| Traf3ip1 |
T |
A |
1: 91,427,374 (GRCm39) |
C115S |
unknown |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
| Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
| Zfp984 |
A |
G |
4: 147,839,234 (GRCm39) |
I539T |
possibly damaging |
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 |
|
R2414:Cpn2
|
UTSW |
16 |
30,079,392 (GRCm39) |
missense |
probably benign |
0.41 |
|
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'- ATTGCTGCAGAGTCTGAGCC -3'
(R):5'- AACTACGACCTCTTCAACCTGG -3'
Sequencing Primer
(F):5'- AGAGTCTGAGCCGTCCC -3'
(R):5'- AGTGCGACTGCCATCTGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation