Incidental Mutation 'R0967:Cndp1'
ID |
83928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cndp1
|
Ensembl Gene |
ENSMUSG00000056162 |
Gene Name |
carnosine dipeptidase 1 |
Synonyms |
Cn1 |
MMRRC Submission |
039096-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R0967 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
84628634-84668220 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 84652777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000069699 Gene: ENSMUSG00000056162
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.1%
- 20x: 90.5%
|
Validation Efficiency |
100% (44/44) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
G |
T |
18: 59,105,812 (GRCm39) |
E736* |
probably null |
Het |
Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
Camk1g |
T |
C |
1: 193,032,604 (GRCm39) |
E269G |
probably damaging |
Het |
Ccrl2 |
G |
A |
9: 110,884,754 (GRCm39) |
T248M |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,716,107 (GRCm39) |
S421P |
probably damaging |
Het |
Cplane2 |
T |
C |
4: 140,947,162 (GRCm39) |
M181T |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,721,227 (GRCm39) |
E1468G |
probably null |
Het |
Cyc1 |
T |
C |
15: 76,229,848 (GRCm39) |
|
probably benign |
Het |
Fli1 |
T |
A |
9: 32,372,745 (GRCm39) |
T98S |
probably benign |
Het |
Gk2 |
T |
C |
5: 97,604,155 (GRCm39) |
S228G |
probably benign |
Het |
Gse1 |
T |
A |
8: 121,297,594 (GRCm39) |
|
probably benign |
Het |
Hgf |
T |
A |
5: 16,798,839 (GRCm39) |
|
probably benign |
Het |
Hif1a |
G |
A |
12: 73,984,444 (GRCm39) |
V300I |
possibly damaging |
Het |
Hsd17b4 |
C |
A |
18: 50,316,328 (GRCm39) |
H652N |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Kif5c |
T |
A |
2: 49,588,128 (GRCm39) |
|
probably benign |
Het |
Lgr6 |
T |
C |
1: 134,921,750 (GRCm39) |
Y198C |
probably damaging |
Het |
Lpcat2b |
T |
A |
5: 107,582,084 (GRCm39) |
M471K |
possibly damaging |
Het |
Med21 |
A |
G |
6: 146,551,697 (GRCm39) |
E116G |
probably benign |
Het |
Mos |
A |
G |
4: 3,870,932 (GRCm39) |
S295P |
probably benign |
Het |
Ms4a15 |
A |
T |
19: 10,956,685 (GRCm39) |
V209E |
probably damaging |
Het |
Mttp |
A |
G |
3: 137,798,484 (GRCm39) |
V804A |
probably benign |
Het |
Or10ah1-ps1 |
A |
G |
5: 143,123,594 (GRCm39) |
M121T |
probably damaging |
Het |
Or52n4b |
T |
C |
7: 108,143,996 (GRCm39) |
I86T |
probably damaging |
Het |
Or5ac23 |
T |
A |
16: 59,149,546 (GRCm39) |
T109S |
possibly damaging |
Het |
Plagl1 |
T |
C |
10: 13,003,986 (GRCm39) |
|
probably benign |
Het |
Prpf8 |
T |
A |
11: 75,385,256 (GRCm39) |
V797E |
probably damaging |
Het |
Rars2 |
A |
G |
4: 34,646,587 (GRCm39) |
D284G |
probably benign |
Het |
Rassf8 |
T |
C |
6: 145,765,676 (GRCm39) |
|
probably benign |
Het |
Rfx3 |
A |
G |
19: 27,783,751 (GRCm39) |
|
probably benign |
Het |
Ripk4 |
A |
T |
16: 97,545,372 (GRCm39) |
M362K |
probably damaging |
Het |
Rubcn |
C |
A |
16: 32,646,087 (GRCm39) |
E815D |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,933,527 (GRCm39) |
Y1577C |
probably damaging |
Het |
Sec24b |
C |
T |
3: 129,790,431 (GRCm39) |
R698Q |
probably damaging |
Het |
Ssc5d |
T |
A |
7: 4,947,342 (GRCm39) |
L1232* |
probably null |
Het |
Usp7 |
A |
T |
16: 8,514,518 (GRCm39) |
|
probably benign |
Het |
Vmn2r51 |
T |
G |
7: 9,834,012 (GRCm39) |
H342P |
probably damaging |
Het |
Vmn2r70 |
A |
G |
7: 85,208,827 (GRCm39) |
M550T |
probably damaging |
Het |
Vmn2r81 |
T |
C |
10: 79,083,857 (GRCm39) |
|
probably benign |
Het |
Zc3h13 |
T |
C |
14: 75,581,179 (GRCm39) |
I1722T |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGTGCTCCGAGAACTCCGT -3'
(R):5'- TGTGTGCTTAAACTAGCTTGTCGTGT -3'
Sequencing Primer
(F):5'- GAACTCCGTCACCTCTCTCAAG -3'
(R):5'- ACACAGGTGCGGATTGTT -3'
|
Posted On |
2013-11-08 |