Incidental Mutation 'R6682:Cndp2'
| ID |
527560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cndp2
|
| Ensembl Gene |
ENSMUSG00000024644 |
| Gene Name |
CNDP dipeptidase 2 |
| Synonyms |
Pep-1, Pep1, Cn2, 0610010E05Rik, Dip-2 |
| MMRRC Submission |
044801-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
84685590-84703827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84695455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 149
(K149E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025546]
[ENSMUST00000168419]
|
| AlphaFold |
Q9D1A2 |
| PDB Structure |
Crystal structure of mouse carnosinase CN2 complexed with MN and bestatin [X-RAY DIFFRACTION]
Crystal structure of mouse carnosinase CN2 complexed with ZN and bestatin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025546
AA Change: K149E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: K149E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
82 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M20
|
95 |
469 |
6.8e-35 |
PFAM |
|
Pfam:M20_dimer
|
208 |
369 |
2.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168419
AA Change: K149E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: K149E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
82 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M20
|
95 |
469 |
6.2e-33 |
PFAM |
|
Pfam:M20_dimer
|
208 |
369 |
2.1e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
C |
1: 139,385,460 (GRCm39) |
V368A |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,412,400 (GRCm39) |
T92A |
possibly damaging |
Het |
| Celsr2 |
A |
T |
3: 108,307,817 (GRCm39) |
|
probably null |
Het |
| Cnpy4 |
T |
C |
5: 138,185,984 (GRCm39) |
|
probably null |
Het |
| Cox6c |
A |
T |
15: 35,938,319 (GRCm39) |
|
probably null |
Het |
| Cpt2 |
G |
T |
4: 107,761,627 (GRCm39) |
S158R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,094,118 (GRCm39) |
K813R |
probably damaging |
Het |
| Dock10 |
A |
C |
1: 80,490,338 (GRCm39) |
L1927R |
probably damaging |
Het |
| Gak |
T |
A |
5: 108,746,742 (GRCm39) |
K430I |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,544,259 (GRCm39) |
Y327N |
probably damaging |
Het |
| Ldb3 |
T |
A |
14: 34,274,221 (GRCm39) |
T334S |
possibly damaging |
Het |
| Ldlr |
A |
G |
9: 21,643,671 (GRCm39) |
D85G |
probably benign |
Het |
| Med26 |
T |
A |
8: 73,249,927 (GRCm39) |
T391S |
probably benign |
Het |
| Mmp27 |
A |
G |
9: 7,573,606 (GRCm39) |
T233A |
probably benign |
Het |
| Mob1a |
A |
G |
6: 83,311,132 (GRCm39) |
Y117C |
possibly damaging |
Het |
| Mrps35 |
A |
T |
6: 146,949,777 (GRCm39) |
E97V |
possibly damaging |
Het |
| Msln |
A |
T |
17: 25,971,993 (GRCm39) |
S75T |
probably damaging |
Het |
| Myoz1 |
C |
T |
14: 20,703,687 (GRCm39) |
|
probably null |
Het |
| Nim1k |
A |
G |
13: 120,173,724 (GRCm39) |
I390T |
probably benign |
Het |
| Or10k2 |
A |
G |
8: 84,268,187 (GRCm39) |
H138R |
probably benign |
Het |
| Or4k51 |
C |
T |
2: 111,584,980 (GRCm39) |
P129S |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,589,893 (GRCm39) |
Q731P |
unknown |
Het |
| Prl3d3 |
G |
A |
13: 27,345,023 (GRCm39) |
E132K |
probably benign |
Het |
| Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
| Ptpru |
T |
C |
4: 131,548,093 (GRCm39) |
M135V |
probably benign |
Het |
| Slc12a9 |
A |
T |
5: 137,325,663 (GRCm39) |
L316Q |
probably damaging |
Het |
| Slc35f6 |
G |
A |
5: 30,814,764 (GRCm39) |
M177I |
possibly damaging |
Het |
| Smc4 |
T |
A |
3: 68,914,574 (GRCm39) |
S62R |
probably damaging |
Het |
| Tmem179 |
C |
T |
12: 112,469,714 (GRCm39) |
D29N |
probably benign |
Het |
| Togaram2 |
A |
T |
17: 72,011,749 (GRCm39) |
D476V |
probably benign |
Het |
| Trpc4ap |
C |
T |
2: 155,479,687 (GRCm39) |
|
probably null |
Het |
| Trpm8 |
C |
A |
1: 88,254,224 (GRCm39) |
T149K |
probably damaging |
Het |
| Uhmk1 |
C |
T |
1: 170,039,804 (GRCm39) |
|
probably null |
Het |
| Vmn2r79 |
C |
A |
7: 86,653,370 (GRCm39) |
T545K |
possibly damaging |
Het |
| Vmn2r95 |
C |
A |
17: 18,660,489 (GRCm39) |
N300K |
probably damaging |
Het |
| Wdr41 |
G |
A |
13: 95,149,639 (GRCm39) |
G419D |
probably damaging |
Het |
| Zc3hav1 |
A |
T |
6: 38,302,130 (GRCm39) |
H597Q |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,630,253 (GRCm39) |
E36G |
probably benign |
Het |
| Zfp9 |
A |
G |
6: 118,444,202 (GRCm39) |
V47A |
possibly damaging |
Het |
|
| Other mutations in Cndp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Cndp2
|
APN |
18 |
84,695,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01143:Cndp2
|
APN |
18 |
84,695,442 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01310:Cndp2
|
APN |
18 |
84,689,002 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01408:Cndp2
|
APN |
18 |
84,689,036 (GRCm39) |
missense |
probably benign |
|
|
IGL01520:Cndp2
|
APN |
18 |
84,686,732 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02095:Cndp2
|
APN |
18 |
84,699,157 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1108:Cndp2
|
UTSW |
18 |
84,693,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1264:Cndp2
|
UTSW |
18 |
84,696,916 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1466:Cndp2
|
UTSW |
18 |
84,695,440 (GRCm39) |
splice site |
probably benign |
|
|
R1584:Cndp2
|
UTSW |
18 |
84,695,440 (GRCm39) |
splice site |
probably benign |
|
|
R2363:Cndp2
|
UTSW |
18 |
84,686,694 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2383:Cndp2
|
UTSW |
18 |
84,693,215 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3153:Cndp2
|
UTSW |
18 |
84,686,722 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4590:Cndp2
|
UTSW |
18 |
84,687,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Cndp2
|
UTSW |
18 |
84,693,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Cndp2
|
UTSW |
18 |
84,688,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5154:Cndp2
|
UTSW |
18 |
84,686,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5178:Cndp2
|
UTSW |
18 |
84,693,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5326:Cndp2
|
UTSW |
18 |
84,690,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Cndp2
|
UTSW |
18 |
84,690,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Cndp2
|
UTSW |
18 |
84,690,249 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5722:Cndp2
|
UTSW |
18 |
84,686,203 (GRCm39) |
nonsense |
probably null |
|
|
R6431:Cndp2
|
UTSW |
18 |
84,693,203 (GRCm39) |
nonsense |
probably null |
|
|
R7036:Cndp2
|
UTSW |
18 |
84,688,070 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7728:Cndp2
|
UTSW |
18 |
84,690,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7806:Cndp2
|
UTSW |
18 |
84,688,945 (GRCm39) |
missense |
probably benign |
|
|
R8018:Cndp2
|
UTSW |
18 |
84,686,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8929:Cndp2
|
UTSW |
18 |
84,693,298 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8949:Cndp2
|
UTSW |
18 |
84,693,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Cndp2
|
UTSW |
18 |
84,699,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9455:Cndp2
|
UTSW |
18 |
84,690,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATTACCTTGACCTTTGAGCATC -3'
(R):5'- CATTGCTCAGGACAGCTGTG -3'
Sequencing Primer
(F):5'- CTTGACCTTTGAGCATCTGTAAGAC -3'
(R):5'- CTCAGGACAGCTGTGTGTGTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation