Incidental Mutation 'IGL00904:Cndp1'
ID |
29398 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cndp1
|
Ensembl Gene |
ENSMUSG00000056162 |
Gene Name |
carnosine dipeptidase 1 |
Synonyms |
Cn1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
IGL00904
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
84628634-84668220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84629790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 468
(S468P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069699
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070139]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070139
AA Change: S468P
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000069699 Gene: ENSMUSG00000056162 AA Change: S468P
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M20
|
103 |
477 |
4.3e-33 |
PFAM |
Pfam:M20_dimer
|
216 |
377 |
3.4e-17 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
G |
T |
6: 86,923,135 (GRCm39) |
G236C |
probably damaging |
Het |
Abi1 |
C |
T |
2: 22,831,942 (GRCm39) |
R404Q |
possibly damaging |
Het |
Atp8b3 |
C |
T |
10: 80,364,598 (GRCm39) |
G532R |
probably damaging |
Het |
Bysl |
C |
T |
17: 47,912,796 (GRCm39) |
M331I |
probably benign |
Het |
Ccdc121rt3 |
G |
A |
5: 112,502,994 (GRCm39) |
R237* |
probably null |
Het |
Esd |
A |
G |
14: 74,987,128 (GRCm39) |
*266W |
probably null |
Het |
F5 |
T |
C |
1: 164,021,578 (GRCm39) |
V1351A |
probably benign |
Het |
Fchsd2 |
A |
G |
7: 100,920,829 (GRCm39) |
D454G |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,975,195 (GRCm39) |
M1415L |
probably benign |
Het |
Ghr |
T |
A |
15: 3,357,602 (GRCm39) |
Y222F |
probably benign |
Het |
Gtf3c2 |
C |
T |
5: 31,330,202 (GRCm39) |
S299N |
probably damaging |
Het |
Ice1 |
C |
T |
13: 70,750,408 (GRCm39) |
D93N |
probably damaging |
Het |
Ints7 |
T |
A |
1: 191,328,276 (GRCm39) |
|
probably null |
Het |
Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
Mcm9 |
A |
T |
10: 53,499,017 (GRCm39) |
H308Q |
possibly damaging |
Het |
Mesp2 |
A |
G |
7: 79,462,401 (GRCm39) |
D319G |
probably benign |
Het |
Mrpl55 |
T |
A |
11: 59,096,499 (GRCm39) |
S84T |
probably benign |
Het |
Mybpc3 |
T |
C |
2: 90,950,374 (GRCm39) |
V123A |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,406,944 (GRCm39) |
|
probably benign |
Het |
Nfia |
C |
T |
4: 97,953,623 (GRCm39) |
P325S |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,794,535 (GRCm39) |
|
probably null |
Het |
Npepps |
A |
C |
11: 97,149,132 (GRCm39) |
V130G |
probably damaging |
Het |
Or7c70 |
A |
T |
10: 78,683,597 (GRCm39) |
S51T |
probably damaging |
Het |
Pja2 |
G |
T |
17: 64,590,526 (GRCm39) |
T669K |
probably damaging |
Het |
Rnf112 |
G |
T |
11: 61,343,610 (GRCm39) |
D98E |
probably damaging |
Het |
Rsl1d1 |
G |
A |
16: 11,017,558 (GRCm39) |
T136I |
probably damaging |
Het |
Samsn1 |
A |
T |
16: 75,706,008 (GRCm39) |
|
probably benign |
Het |
Slc6a9 |
T |
C |
4: 117,721,814 (GRCm39) |
L280P |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,097,398 (GRCm39) |
N1382D |
probably benign |
Het |
Vmn2r100 |
T |
G |
17: 19,746,262 (GRCm39) |
C474G |
probably damaging |
Het |
Vmn2r74 |
C |
T |
7: 85,606,788 (GRCm39) |
R186H |
probably benign |
Het |
Wdr7 |
T |
C |
18: 63,929,302 (GRCm39) |
I1046T |
probably benign |
Het |
|
Other mutations in Cndp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01326:Cndp1
|
APN |
18 |
84,640,357 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01762:Cndp1
|
APN |
18 |
84,640,411 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02061:Cndp1
|
APN |
18 |
84,652,751 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02731:Cndp1
|
APN |
18 |
84,650,083 (GRCm39) |
missense |
probably damaging |
0.99 |
R0098:Cndp1
|
UTSW |
18 |
84,646,949 (GRCm39) |
missense |
probably damaging |
0.99 |
R0098:Cndp1
|
UTSW |
18 |
84,646,949 (GRCm39) |
missense |
probably damaging |
0.99 |
R0285:Cndp1
|
UTSW |
18 |
84,636,363 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0494:Cndp1
|
UTSW |
18 |
84,637,658 (GRCm39) |
missense |
probably benign |
0.01 |
R0967:Cndp1
|
UTSW |
18 |
84,652,777 (GRCm39) |
splice site |
probably benign |
|
R0968:Cndp1
|
UTSW |
18 |
84,652,777 (GRCm39) |
splice site |
probably benign |
|
R0969:Cndp1
|
UTSW |
18 |
84,652,777 (GRCm39) |
splice site |
probably benign |
|
R1069:Cndp1
|
UTSW |
18 |
84,652,777 (GRCm39) |
splice site |
probably benign |
|
R1170:Cndp1
|
UTSW |
18 |
84,629,750 (GRCm39) |
missense |
probably benign |
0.00 |
R1340:Cndp1
|
UTSW |
18 |
84,652,777 (GRCm39) |
splice site |
probably benign |
|
R1414:Cndp1
|
UTSW |
18 |
84,652,777 (GRCm39) |
splice site |
probably benign |
|
R1432:Cndp1
|
UTSW |
18 |
84,652,777 (GRCm39) |
splice site |
probably benign |
|
R1891:Cndp1
|
UTSW |
18 |
84,637,758 (GRCm39) |
missense |
probably null |
1.00 |
R3912:Cndp1
|
UTSW |
18 |
84,650,124 (GRCm39) |
missense |
probably benign |
0.00 |
R4024:Cndp1
|
UTSW |
18 |
84,646,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R4238:Cndp1
|
UTSW |
18 |
84,636,342 (GRCm39) |
missense |
probably benign |
|
R4564:Cndp1
|
UTSW |
18 |
84,640,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R4989:Cndp1
|
UTSW |
18 |
84,650,025 (GRCm39) |
missense |
probably damaging |
0.99 |
R5015:Cndp1
|
UTSW |
18 |
84,650,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R5108:Cndp1
|
UTSW |
18 |
84,650,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R5502:Cndp1
|
UTSW |
18 |
84,650,138 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5835:Cndp1
|
UTSW |
18 |
84,630,958 (GRCm39) |
missense |
probably benign |
0.00 |
R6396:Cndp1
|
UTSW |
18 |
84,650,135 (GRCm39) |
missense |
probably benign |
|
R6549:Cndp1
|
UTSW |
18 |
84,654,309 (GRCm39) |
missense |
probably benign |
0.04 |
R7251:Cndp1
|
UTSW |
18 |
84,640,322 (GRCm39) |
missense |
probably benign |
|
R7465:Cndp1
|
UTSW |
18 |
84,637,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R7638:Cndp1
|
UTSW |
18 |
84,654,174 (GRCm39) |
missense |
probably benign |
0.36 |
R7812:Cndp1
|
UTSW |
18 |
84,655,994 (GRCm39) |
missense |
probably benign |
|
R7921:Cndp1
|
UTSW |
18 |
84,640,383 (GRCm39) |
missense |
probably benign |
0.11 |
R8408:Cndp1
|
UTSW |
18 |
84,650,049 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8693:Cndp1
|
UTSW |
18 |
84,646,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R9688:Cndp1
|
UTSW |
18 |
84,655,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-04-17 |