Incidental Mutation 'R0969:Cndp1'
| ID |
84005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cndp1
|
| Ensembl Gene |
ENSMUSG00000056162 |
| Gene Name |
carnosine dipeptidase 1 |
| Synonyms |
Cn1 |
| MMRRC Submission |
039098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0969 (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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| 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 |
|---|
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
C |
10: 42,194,617 (GRCm39) |
T392A |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,219,319 (GRCm39) |
S146P |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,638 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
T |
A |
3: 101,183,371 (GRCm39) |
I313F |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,816,572 (GRCm39) |
D374E |
possibly damaging |
Het |
| Cep85l |
T |
C |
10: 53,157,592 (GRCm39) |
K602E |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,630,526 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
T |
16: 63,386,999 (GRCm39) |
L878Q |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,461 (GRCm39) |
T169S |
probably damaging |
Het |
| Gpx3 |
T |
C |
11: 54,799,852 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
T |
A |
14: 121,181,937 (GRCm39) |
V1010D |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,712 (GRCm39) |
L2647Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,592 (GRCm39) |
D297G |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,785 (GRCm39) |
E393G |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,433,822 (GRCm39) |
Q590K |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,886,898 (GRCm39) |
D367G |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,940,965 (GRCm39) |
Y1106H |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
C |
T |
1: 13,060,116 (GRCm39) |
A202T |
probably damaging |
Het |
| Slco6c1 |
A |
C |
1: 97,047,685 (GRCm39) |
I206R |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srek1 |
G |
A |
13: 103,889,011 (GRCm39) |
|
probably benign |
Het |
| St8sia6 |
T |
A |
2: 13,701,680 (GRCm39) |
R112S |
probably benign |
Het |
| Suclg1 |
T |
A |
6: 73,248,099 (GRCm39) |
H273Q |
probably benign |
Het |
| Taf2 |
T |
A |
15: 54,894,553 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,379,840 (GRCm39) |
V566A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,977,331 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
C |
T |
11: 73,169,764 (GRCm39) |
Q112* |
probably null |
Het |
| Ttll8 |
T |
C |
15: 88,818,138 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Upk1b |
A |
G |
16: 38,607,661 (GRCm39) |
|
probably benign |
Het |
| Zfp961 |
T |
G |
8: 72,722,139 (GRCm39) |
H217Q |
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 |
|
|
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 |
Incidental Mutation