Incidental Mutation 'IGL02061:Cndp1'
| ID |
185411 |
| 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 # |
IGL02061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84628634-84668220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84652751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 136
(R136W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070139]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070139
AA Change: R136W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069699
Gene: ENSMUSG00000056162
AA Change: R136W
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
T |
A |
13: 113,931,193 (GRCm39) |
D3E |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,454 (GRCm39) |
Y159C |
probably damaging |
Het |
| Card10 |
A |
G |
15: 78,662,415 (GRCm39) |
F861S |
probably damaging |
Het |
| Ccdc85c |
A |
G |
12: 108,188,002 (GRCm39) |
V279A |
probably damaging |
Het |
| Eif2b3 |
A |
G |
4: 116,885,608 (GRCm39) |
E50G |
possibly damaging |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Eva1c |
C |
T |
16: 90,663,163 (GRCm39) |
Q67* |
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,967 (GRCm39) |
E169G |
probably damaging |
Het |
| Fsd2 |
T |
A |
7: 81,190,172 (GRCm39) |
K537* |
probably null |
Het |
| Gbf1 |
T |
G |
19: 46,267,697 (GRCm39) |
S1236A |
possibly damaging |
Het |
| Gpt |
C |
A |
15: 76,583,617 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,486,609 (GRCm39) |
|
probably benign |
Het |
| Hdac6 |
A |
C |
X: 7,809,878 (GRCm39) |
|
probably null |
Het |
| Ivns1abp |
T |
A |
1: 151,227,324 (GRCm39) |
L44Q |
probably damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,494 (GRCm39) |
|
probably null |
Het |
| Kdm2b |
A |
G |
5: 123,021,404 (GRCm39) |
I58T |
probably damaging |
Het |
| Mrpl23 |
C |
T |
7: 142,094,319 (GRCm39) |
P76S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,625,308 (GRCm39) |
I2261T |
possibly damaging |
Het |
| Oasl1 |
G |
A |
5: 115,061,651 (GRCm39) |
V61M |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,614 (GRCm39) |
F162I |
possibly damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,046 (GRCm39) |
Q437R |
probably benign |
Het |
| Ppp1r26 |
T |
A |
2: 28,340,639 (GRCm39) |
C90S |
possibly damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,503,624 (GRCm39) |
T66A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,192 (GRCm39) |
Y231H |
possibly damaging |
Het |
| Psmb10 |
T |
C |
8: 106,664,343 (GRCm39) |
T38A |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,792 (GRCm39) |
T364A |
probably benign |
Het |
| Scgb2b26 |
T |
C |
7: 33,642,610 (GRCm39) |
N107S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,920,328 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
T |
A |
13: 76,277,660 (GRCm39) |
|
probably null |
Het |
| Sod1 |
T |
A |
16: 90,022,126 (GRCm39) |
H111Q |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,900,176 (GRCm39) |
D592E |
probably benign |
Het |
| Tmem67 |
G |
A |
4: 12,053,526 (GRCm39) |
A740V |
probably damaging |
Het |
| Tra2a |
A |
G |
6: 49,226,032 (GRCm39) |
V136A |
possibly damaging |
Het |
| Utp18 |
T |
C |
11: 93,772,967 (GRCm39) |
D158G |
probably benign |
Het |
| Zfp524 |
A |
G |
7: 5,020,871 (GRCm39) |
E133G |
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 |
|
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 |
2014-05-07 |
Incidental Mutation