Incidental Mutation 'R6549:Cndp1'
| ID |
521469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cndp1
|
| Ensembl Gene |
ENSMUSG00000056162 |
| Gene Name |
carnosine dipeptidase 1 |
| Synonyms |
Cn1 |
| MMRRC Submission |
044674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6549 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
84628634-84668220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84654309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 85
(I85K)
|
| 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: I85K
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000069699
Gene: ENSMUSG00000056162
AA Change: I85K
| 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: 99.3%
- 20x: 97.7%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
T |
C |
9: 53,404,477 (GRCm39) |
D1288G |
probably benign |
Het |
| Atxn7 |
T |
C |
14: 14,013,087 (GRCm38) |
S2P |
probably damaging |
Het |
| C1rl |
T |
A |
6: 124,485,487 (GRCm39) |
I286N |
probably benign |
Het |
| Ccdc54 |
T |
C |
16: 50,410,388 (GRCm39) |
R293G |
possibly damaging |
Het |
| Col25a1 |
A |
G |
3: 129,976,444 (GRCm39) |
T110A |
probably benign |
Het |
| Defb8 |
G |
T |
8: 19,497,560 (GRCm39) |
P17Q |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,340 (GRCm39) |
L3146Q |
probably damaging |
Het |
| Espn |
A |
T |
4: 152,215,525 (GRCm39) |
M1K |
probably null |
Het |
| Gm9922 |
C |
A |
14: 101,966,893 (GRCm39) |
|
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,578,759 (GRCm39) |
I264V |
probably benign |
Het |
| Ldb3 |
A |
G |
14: 34,263,854 (GRCm39) |
M545T |
probably damaging |
Het |
| Or8k30 |
A |
T |
2: 86,339,726 (GRCm39) |
I308L |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,227,002 (GRCm39) |
H420Y |
|
Het |
| Primpol |
A |
T |
8: 47,058,185 (GRCm39) |
L115I |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,679,075 (GRCm39) |
|
probably null |
Het |
| Rictor |
C |
G |
15: 6,825,656 (GRCm39) |
A1689G |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,595,018 (GRCm39) |
N1956D |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,234,791 (GRCm39) |
D384G |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,198 (GRCm39) |
D138G |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,748,564 (GRCm38) |
F327L |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,085,927 (GRCm39) |
I680T |
possibly damaging |
Het |
| Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
| Vmn1r31 |
A |
T |
6: 58,449,648 (GRCm39) |
N72K |
possibly damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,065 (GRCm39) |
I104V |
probably benign |
Het |
| Zfp988 |
G |
A |
4: 147,416,310 (GRCm39) |
C248Y |
probably benign |
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 |
|
R6396:Cndp1
|
UTSW |
18 |
84,650,135 (GRCm39) |
missense |
probably benign |
|
|
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'- TAGCTAAAAGCCATGAGTCTTTGATCG -3'
(R):5'- ATCTTGAGAGATGGAGAAAGTATGCTC -3'
Sequencing Primer
(F):5'- AAGCCTTGACTACAGACGTGTTC -3'
(R):5'- CAGAAAACCTGATATACGCTTTACAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation