Incidental Mutation 'IGL01326:Cndp1'
ID |
74265 |
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 # |
IGL01326
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
84628634-84668220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84640357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 283
(T283S)
|
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: T283S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000069699 Gene: ENSMUSG00000056162 AA Change: T283S
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
G |
A |
3: 137,992,672 (GRCm39) |
V263M |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,375,096 (GRCm39) |
H1909Q |
probably benign |
Het |
Atg2b |
C |
T |
12: 105,588,403 (GRCm39) |
A1936T |
probably damaging |
Het |
Atp8b3 |
G |
T |
10: 80,360,210 (GRCm39) |
L954M |
probably damaging |
Het |
C8a |
T |
C |
4: 104,713,617 (GRCm39) |
Y171C |
probably damaging |
Het |
Cd6 |
A |
G |
19: 10,768,466 (GRCm39) |
S508P |
probably benign |
Het |
Cdk4 |
A |
G |
10: 126,900,492 (GRCm39) |
D86G |
possibly damaging |
Het |
Cdr2l |
G |
T |
11: 115,281,796 (GRCm39) |
R100S |
probably benign |
Het |
Cr2 |
T |
C |
1: 194,823,529 (GRCm39) |
Y1023C |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,713,181 (GRCm39) |
F1494L |
probably benign |
Het |
Eeig2 |
A |
G |
3: 108,887,101 (GRCm39) |
V299A |
possibly damaging |
Het |
Eng |
G |
T |
2: 32,562,394 (GRCm39) |
G231W |
probably benign |
Het |
Erp44 |
A |
G |
4: 48,218,126 (GRCm39) |
V181A |
probably benign |
Het |
Fkbp15 |
A |
G |
4: 62,241,487 (GRCm39) |
S553P |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,909,205 (GRCm39) |
V495A |
probably damaging |
Het |
Gm9631 |
A |
T |
11: 121,836,454 (GRCm39) |
D28E |
possibly damaging |
Het |
Gnptab |
G |
T |
10: 88,268,927 (GRCm39) |
L543F |
probably damaging |
Het |
H4c3 |
A |
T |
13: 23,882,353 (GRCm39) |
I27N |
probably damaging |
Het |
Khdrbs2 |
T |
G |
1: 32,696,558 (GRCm39) |
L329R |
possibly damaging |
Het |
Kidins220 |
C |
A |
12: 25,088,498 (GRCm39) |
H1080Q |
probably damaging |
Het |
Maml1 |
G |
A |
11: 50,156,715 (GRCm39) |
P487S |
probably benign |
Het |
Me1 |
C |
T |
9: 86,480,771 (GRCm39) |
|
probably null |
Het |
Morc2a |
C |
T |
11: 3,631,775 (GRCm39) |
R569C |
probably benign |
Het |
Mrc1 |
A |
G |
2: 14,271,335 (GRCm39) |
Q413R |
probably damaging |
Het |
Mrgprx1 |
A |
T |
7: 47,671,517 (GRCm39) |
C77S |
probably benign |
Het |
Mtarc2 |
T |
C |
1: 184,566,048 (GRCm39) |
|
probably benign |
Het |
Myo1d |
A |
T |
11: 80,575,147 (GRCm39) |
|
probably benign |
Het |
Nr4a1 |
T |
G |
15: 101,171,940 (GRCm39) |
L538R |
probably damaging |
Het |
Olfm1 |
T |
C |
2: 28,119,564 (GRCm39) |
Y385H |
probably damaging |
Het |
Or4a39 |
A |
T |
2: 89,236,675 (GRCm39) |
F249L |
possibly damaging |
Het |
Or5m9 |
A |
G |
2: 85,877,627 (GRCm39) |
E267G |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,795,148 (GRCm39) |
Y2278* |
probably null |
Het |
Plcg2 |
T |
C |
8: 118,300,738 (GRCm39) |
|
probably benign |
Het |
Prkdc |
G |
T |
16: 15,647,556 (GRCm39) |
C3660F |
probably benign |
Het |
Ptpn11 |
T |
C |
5: 121,281,199 (GRCm39) |
D493G |
probably damaging |
Het |
Rad23b |
T |
A |
4: 55,383,601 (GRCm39) |
F278I |
possibly damaging |
Het |
Saxo2 |
T |
C |
7: 82,297,613 (GRCm39) |
I9V |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,582,604 (GRCm39) |
I98V |
probably benign |
Het |
Serac1 |
T |
A |
17: 6,124,528 (GRCm39) |
|
probably benign |
Het |
Simc1 |
T |
C |
13: 54,672,473 (GRCm39) |
C274R |
probably benign |
Het |
Sirt3 |
A |
G |
7: 140,444,006 (GRCm39) |
|
probably benign |
Het |
Tctn3 |
A |
G |
19: 40,585,880 (GRCm39) |
L555P |
probably damaging |
Het |
Ttc14 |
A |
G |
3: 33,855,507 (GRCm39) |
I151V |
probably benign |
Het |
Ush2a |
T |
A |
1: 187,995,518 (GRCm39) |
Y96* |
probably null |
Het |
Usp42 |
T |
C |
5: 143,706,970 (GRCm39) |
T270A |
possibly damaging |
Het |
Vmn1r31 |
A |
G |
6: 58,449,784 (GRCm39) |
I27T |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,536,906 (GRCm39) |
A530T |
possibly damaging |
Het |
|
Other mutations in Cndp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00904:Cndp1
|
APN |
18 |
84,629,790 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
2013-10-07 |