Incidental Mutation 'IGL01143:Cndp2'
ID |
53203 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cndp2
|
Ensembl Gene |
ENSMUSG00000024644 |
Gene Name |
CNDP dipeptidase 2 |
Synonyms |
Pep-1, Pep1, Cn2, 0610010E05Rik, Dip-2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01143
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
84685590-84703827 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 84695442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128696
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025546]
[ENSMUST00000168419]
|
AlphaFold |
Q9D1A2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025546
|
SMART Domains |
Protein: ENSMUSP00000025546 Gene: ENSMUSG00000024644
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 null
Transcript: ENSMUST00000168419
|
SMART Domains |
Protein: ENSMUSP00000128696 Gene: ENSMUSG00000024644
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 |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
A |
T |
10: 85,490,335 (GRCm39) |
|
probably benign |
Het |
Adgrl4 |
A |
G |
3: 151,205,866 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
C |
13: 81,567,470 (GRCm39) |
D5234E |
probably benign |
Het |
Bmp7 |
G |
T |
2: 172,721,275 (GRCm39) |
H267N |
probably benign |
Het |
Ccdc113 |
T |
C |
8: 96,260,888 (GRCm39) |
V30A |
probably damaging |
Het |
Ccdc185 |
A |
T |
1: 182,575,417 (GRCm39) |
L424Q |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,937,445 (GRCm39) |
D58E |
probably damaging |
Het |
Ces1f |
C |
T |
8: 93,998,458 (GRCm39) |
|
probably null |
Het |
Chaf1a |
T |
A |
17: 56,370,336 (GRCm39) |
D600E |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 117,976,475 (GRCm39) |
D2727V |
probably damaging |
Het |
Dync1li2 |
T |
C |
8: 105,156,085 (GRCm39) |
D252G |
probably damaging |
Het |
Ephx2 |
C |
T |
14: 66,326,971 (GRCm39) |
R408Q |
probably damaging |
Het |
Fat1 |
C |
A |
8: 45,488,569 (GRCm39) |
T3427K |
possibly damaging |
Het |
Gal3st4 |
A |
G |
5: 138,269,664 (GRCm39) |
M1T |
probably null |
Het |
Gm5828 |
T |
C |
1: 16,840,172 (GRCm39) |
|
noncoding transcript |
Het |
Gm7694 |
C |
T |
1: 170,130,394 (GRCm39) |
M1I |
probably null |
Het |
Gpatch1 |
A |
G |
7: 35,000,997 (GRCm39) |
|
probably benign |
Het |
Grik1 |
G |
T |
16: 87,754,488 (GRCm39) |
|
probably null |
Het |
Gtf2ird2 |
A |
G |
5: 134,225,394 (GRCm39) |
T161A |
possibly damaging |
Het |
Hk2 |
T |
C |
6: 82,706,533 (GRCm39) |
I790V |
possibly damaging |
Het |
Ints9 |
G |
A |
14: 65,274,870 (GRCm39) |
V609I |
probably benign |
Het |
Kcnq4 |
T |
G |
4: 120,555,820 (GRCm39) |
D585A |
probably damaging |
Het |
Large2 |
T |
C |
2: 92,196,684 (GRCm39) |
Y464C |
probably damaging |
Het |
Lpar6 |
G |
A |
14: 73,476,077 (GRCm39) |
D13N |
probably damaging |
Het |
Morn1 |
T |
C |
4: 155,176,761 (GRCm39) |
Y132H |
probably damaging |
Het |
Nphp1 |
C |
T |
2: 127,622,056 (GRCm39) |
V24I |
probably benign |
Het |
Or5b104 |
A |
T |
19: 13,072,476 (GRCm39) |
F179I |
probably damaging |
Het |
Or5w17 |
T |
C |
2: 87,584,278 (GRCm39) |
N20D |
probably benign |
Het |
Or8b1c |
G |
T |
9: 38,384,338 (GRCm39) |
M98I |
possibly damaging |
Het |
Pcdhb13 |
T |
C |
18: 37,575,690 (GRCm39) |
W23R |
probably benign |
Het |
Plekhg3 |
T |
C |
12: 76,611,756 (GRCm39) |
|
probably null |
Het |
Slx4 |
T |
C |
16: 3,808,752 (GRCm39) |
K396R |
probably benign |
Het |
Snx13 |
A |
G |
12: 35,182,159 (GRCm39) |
D736G |
probably damaging |
Het |
Spag17 |
A |
G |
3: 99,846,614 (GRCm39) |
D46G |
probably benign |
Het |
Spata31 |
T |
G |
13: 65,068,630 (GRCm39) |
Y259* |
probably null |
Het |
Synj1 |
T |
C |
16: 90,748,864 (GRCm39) |
E1064G |
probably damaging |
Het |
Tom1 |
A |
G |
8: 75,785,085 (GRCm39) |
T81A |
probably benign |
Het |
Ttc23l |
A |
G |
15: 10,530,775 (GRCm39) |
I279T |
probably damaging |
Het |
Ttc39a |
T |
C |
4: 109,300,010 (GRCm39) |
|
probably null |
Het |
Vmn2r108 |
C |
A |
17: 20,682,727 (GRCm39) |
A826S |
possibly damaging |
Het |
Zyg11b |
A |
T |
4: 108,102,191 (GRCm39) |
V510E |
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 |
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 |
|
R6682:Cndp2
|
UTSW |
18 |
84,695,455 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2013-06-21 |