Incidental Mutation 'IGL01520:Cndp2'
| ID |
90480 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cndp2
|
| Ensembl Gene |
ENSMUSG00000024644 |
| Gene Name |
CNDP dipeptidase 2 |
| Synonyms |
Pep-1, Pep1, Cn2, 0610010E05Rik, Dip-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01520
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84685590-84703827 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84686732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 430
(K430R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025546]
[ENSMUST00000168419]
|
| AlphaFold |
Q9D1A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025546
AA Change: K430R
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: K430R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
82 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M20
|
95 |
469 |
6.8e-35 |
PFAM |
|
Pfam:M20_dimer
|
208 |
369 |
2.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168419
AA Change: K430R
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: K430R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
75 |
82 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M20
|
95 |
469 |
6.2e-33 |
PFAM |
|
Pfam:M20_dimer
|
208 |
369 |
2.1e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,734,318 (GRCm39) |
H58Q |
probably damaging |
Het |
| Atp6v1c2 |
A |
T |
12: 17,347,754 (GRCm39) |
L149Q |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,027,409 (GRCm39) |
Y2265* |
probably null |
Het |
| Cd40lg |
A |
G |
X: 56,265,148 (GRCm39) |
N132D |
probably benign |
Het |
| Cemip |
G |
T |
7: 83,597,830 (GRCm39) |
T1060K |
probably benign |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,246,206 (GRCm39) |
S328T |
probably benign |
Het |
| Cfap70 |
A |
G |
14: 20,470,755 (GRCm39) |
C497R |
probably benign |
Het |
| Cplane1 |
C |
A |
15: 8,251,395 (GRCm39) |
T1889K |
probably damaging |
Het |
| Crlf3 |
T |
C |
11: 79,950,972 (GRCm39) |
D126G |
probably benign |
Het |
| Cxcr1 |
A |
T |
1: 74,231,434 (GRCm39) |
L196Q |
probably damaging |
Het |
| E330013P04Rik |
A |
G |
19: 60,150,329 (GRCm39) |
|
noncoding transcript |
Het |
| Erbb2 |
C |
T |
11: 98,324,835 (GRCm39) |
H810Y |
probably benign |
Het |
| Fmn1 |
C |
A |
2: 113,274,713 (GRCm39) |
|
probably benign |
Het |
| Fpr3 |
A |
G |
17: 18,191,325 (GRCm39) |
T199A |
possibly damaging |
Het |
| Gcsh |
A |
G |
8: 117,710,688 (GRCm39) |
|
probably benign |
Het |
| Gm10073 |
T |
A |
8: 107,299,901 (GRCm39) |
I28F |
probably benign |
Het |
| Gucy1a2 |
C |
A |
9: 3,759,561 (GRCm39) |
Q456K |
probably damaging |
Het |
| Hgs |
C |
A |
11: 120,369,174 (GRCm39) |
P317T |
probably damaging |
Het |
| Inmt |
C |
A |
6: 55,148,213 (GRCm39) |
V139F |
probably damaging |
Het |
| Kcnma1 |
C |
A |
14: 23,551,211 (GRCm39) |
M460I |
possibly damaging |
Het |
| Map9 |
A |
T |
3: 82,286,272 (GRCm39) |
N359I |
probably damaging |
Het |
| Mavs |
T |
C |
2: 131,087,263 (GRCm39) |
S254P |
probably benign |
Het |
| Mcts1 |
T |
A |
X: 37,700,636 (GRCm39) |
|
probably benign |
Het |
| Mecp2 |
C |
A |
X: 73,079,447 (GRCm39) |
R344L |
possibly damaging |
Het |
| Or1e32 |
T |
G |
11: 73,705,612 (GRCm39) |
T99P |
probably damaging |
Het |
| Or4z4 |
A |
G |
19: 12,077,000 (GRCm39) |
M1T |
probably null |
Het |
| Or5b3 |
G |
T |
19: 13,388,114 (GRCm39) |
M60I |
probably damaging |
Het |
| Or8g36 |
T |
C |
9: 39,422,342 (GRCm39) |
I225V |
possibly damaging |
Het |
| Or8g54 |
T |
G |
9: 39,706,674 (GRCm39) |
M1R |
probably null |
Het |
| Or9g4 |
T |
C |
2: 85,504,701 (GRCm39) |
T265A |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,119,144 (GRCm39) |
I498V |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,584,898 (GRCm39) |
S185T |
possibly damaging |
Het |
| Rd3 |
A |
T |
1: 191,717,283 (GRCm39) |
H251L |
possibly damaging |
Het |
| Rnf180 |
T |
A |
13: 105,386,864 (GRCm39) |
D148V |
probably damaging |
Het |
| Rnf43 |
C |
A |
11: 87,555,542 (GRCm39) |
A34E |
probably damaging |
Het |
| Rslcan18 |
A |
G |
13: 67,250,172 (GRCm39) |
V21A |
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,243,469 (GRCm39) |
V128A |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,110,482 (GRCm39) |
H103R |
probably benign |
Het |
| Spata6l |
A |
T |
19: 28,873,532 (GRCm39) |
|
probably null |
Het |
| Ssh2 |
A |
G |
11: 77,340,732 (GRCm39) |
D628G |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,051 (GRCm39) |
|
probably null |
Het |
| Tmem119 |
A |
G |
5: 113,933,546 (GRCm39) |
F85S |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,396,936 (GRCm39) |
I398N |
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,191,066 (GRCm39) |
Y203H |
probably benign |
Het |
| Vars1 |
G |
T |
17: 35,232,849 (GRCm39) |
V898L |
probably benign |
Het |
| Vmn1r85 |
A |
C |
7: 12,819,081 (GRCm39) |
V21G |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 14,072,045 (GRCm39) |
H65R |
possibly damaging |
Het |
|
| Other mutations in Cndp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Cndp2
|
APN |
18 |
84,695,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01143:Cndp2
|
APN |
18 |
84,695,442 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01310:Cndp2
|
APN |
18 |
84,689,002 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01408:Cndp2
|
APN |
18 |
84,689,036 (GRCm39) |
missense |
probably benign |
|
|
IGL02095:Cndp2
|
APN |
18 |
84,699,157 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1108:Cndp2
|
UTSW |
18 |
84,693,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1264:Cndp2
|
UTSW |
18 |
84,696,916 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1466:Cndp2
|
UTSW |
18 |
84,695,440 (GRCm39) |
splice site |
probably benign |
|
|
R1584:Cndp2
|
UTSW |
18 |
84,695,440 (GRCm39) |
splice site |
probably benign |
|
|
R2363:Cndp2
|
UTSW |
18 |
84,686,694 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2383:Cndp2
|
UTSW |
18 |
84,693,215 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3153:Cndp2
|
UTSW |
18 |
84,686,722 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4590:Cndp2
|
UTSW |
18 |
84,687,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Cndp2
|
UTSW |
18 |
84,693,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5033:Cndp2
|
UTSW |
18 |
84,688,954 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5154:Cndp2
|
UTSW |
18 |
84,686,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5178:Cndp2
|
UTSW |
18 |
84,693,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5326:Cndp2
|
UTSW |
18 |
84,690,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Cndp2
|
UTSW |
18 |
84,690,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Cndp2
|
UTSW |
18 |
84,690,249 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5722:Cndp2
|
UTSW |
18 |
84,686,203 (GRCm39) |
nonsense |
probably null |
|
|
R6431:Cndp2
|
UTSW |
18 |
84,693,203 (GRCm39) |
nonsense |
probably null |
|
|
R6682:Cndp2
|
UTSW |
18 |
84,695,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7036:Cndp2
|
UTSW |
18 |
84,688,070 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7728:Cndp2
|
UTSW |
18 |
84,690,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7806:Cndp2
|
UTSW |
18 |
84,688,945 (GRCm39) |
missense |
probably benign |
|
|
R8018:Cndp2
|
UTSW |
18 |
84,686,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8929:Cndp2
|
UTSW |
18 |
84,693,298 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8949:Cndp2
|
UTSW |
18 |
84,693,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Cndp2
|
UTSW |
18 |
84,699,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9455:Cndp2
|
UTSW |
18 |
84,690,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation