Incidental Mutation 'R6396:Cndp1'
ID |
516022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cndp1
|
Ensembl Gene |
ENSMUSG00000056162 |
Gene Name |
carnosine dipeptidase 1 |
Synonyms |
Cn1 |
MMRRC Submission |
044544-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R6396 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
84628634-84668220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84650135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 186
(M186K)
|
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: M186K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000069699 Gene: ENSMUSG00000056162 AA Change: M186K
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M20
|
103 |
477 |
4.3e-33 |
PFAM |
Pfam:M20_dimer
|
216 |
377 |
3.4e-17 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130579
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145981
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
Validation Efficiency |
100% (36/36) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap35 |
A |
T |
7: 16,296,224 (GRCm39) |
I947K |
probably damaging |
Het |
B3galnt2 |
A |
T |
13: 14,170,333 (GRCm39) |
I447F |
probably damaging |
Het |
Cacna2d3 |
C |
A |
14: 29,118,522 (GRCm39) |
V134L |
probably benign |
Het |
Clcn4 |
C |
T |
7: 7,297,024 (GRCm39) |
G145S |
probably damaging |
Het |
Cntn6 |
A |
G |
6: 104,627,461 (GRCm39) |
Y98C |
probably damaging |
Het |
Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dyrk1a |
C |
A |
16: 94,472,299 (GRCm39) |
Q230K |
probably damaging |
Het |
Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
Fam81b |
T |
A |
13: 76,399,968 (GRCm39) |
R97W |
probably damaging |
Het |
Heatr1 |
A |
G |
13: 12,420,978 (GRCm39) |
E423G |
possibly damaging |
Het |
Hydin |
A |
T |
8: 111,233,521 (GRCm39) |
K1786N |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,932,977 (GRCm39) |
I848M |
probably benign |
Het |
Igkv10-96 |
G |
A |
6: 68,608,969 (GRCm39) |
Q109* |
probably null |
Het |
Mup6 |
T |
C |
4: 60,004,837 (GRCm39) |
I76T |
possibly damaging |
Het |
Nmt2 |
A |
G |
2: 3,315,738 (GRCm39) |
R243G |
probably benign |
Het |
Nsd1 |
G |
A |
13: 55,386,602 (GRCm39) |
G119D |
probably damaging |
Het |
Or1ad8 |
A |
G |
11: 50,898,312 (GRCm39) |
H171R |
possibly damaging |
Het |
Or4c113 |
A |
G |
2: 88,885,641 (GRCm39) |
I43T |
probably benign |
Het |
Or4c120 |
T |
G |
2: 89,001,034 (GRCm39) |
D174A |
probably damaging |
Het |
Or51ab3 |
C |
T |
7: 103,201,888 (GRCm39) |
Q299* |
probably null |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pank3 |
T |
C |
11: 35,669,516 (GRCm39) |
V250A |
probably damaging |
Het |
Pcdh10 |
A |
G |
3: 45,334,495 (GRCm39) |
I270V |
possibly damaging |
Het |
Pnp2 |
T |
A |
14: 51,200,616 (GRCm39) |
V94E |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
Resf1 |
A |
G |
6: 149,229,417 (GRCm39) |
D821G |
probably damaging |
Het |
Riox1 |
G |
A |
12: 83,998,087 (GRCm39) |
D208N |
possibly damaging |
Het |
Rrp15 |
A |
G |
1: 186,469,783 (GRCm39) |
|
probably null |
Het |
Skor1 |
G |
T |
9: 63,052,232 (GRCm39) |
P579Q |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,147,860 (GRCm39) |
Y481* |
probably null |
Het |
Smg7 |
A |
T |
1: 152,724,351 (GRCm39) |
V610E |
probably benign |
Het |
Tlx1 |
A |
G |
19: 45,144,491 (GRCm39) |
Q71R |
probably damaging |
Het |
Vmn2r27 |
A |
T |
6: 124,201,125 (GRCm39) |
Y277* |
probably null |
Het |
Zswim2 |
T |
A |
2: 83,754,062 (GRCm39) |
R199S |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGGGAGAATGTCCTGAC -3'
(R):5'- TACGCAATCCACACGTTGAG -3'
Sequencing Primer
(F):5'- CCAAGGGAGAATGTCCTGACTTTTTC -3'
(R):5'- CACACGTTGAGTATGGATGATTAC -3'
|
Posted On |
2018-05-04 |