Incidental Mutation 'IGL02095:Cndp2'
| ID |
279566 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cndp2
|
| Ensembl Gene |
ENSMUSG00000024644 |
| Gene Name |
CNDP dipeptidase 2 (metallopeptidase M20 family) |
| Synonyms |
Pep1, Dip-2, 0610010E05Rik, Cn2, Pep-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
84667470-84685633 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84681032 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 36
(E36G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025546]
[ENSMUST00000168419]
|
| AlphaFold |
Q9D1A2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025546
AA Change: E36G
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025546
Gene: ENSMUSG00000024644
AA Change: E36G
| 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 |
possibly damaging
Transcript: ENSMUST00000168419
AA Change: E36G
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128696
Gene: ENSMUSG00000024644
AA Change: E36G
| 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 |
|---|
| 3425401B19Rik |
T |
A |
14: 32,661,626 (GRCm38) |
Q794L |
probably benign |
Het |
| Acrbp |
C |
A |
6: 125,053,956 (GRCm38) |
Y313* |
probably null |
Het |
| Adam9 |
A |
G |
8: 24,996,729 (GRCm38) |
S178P |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,579,790 (GRCm38) |
I244V |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 80,094,707 (GRCm38) |
S207G |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,807,393 (GRCm38) |
D880G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,427,310 (GRCm38) |
I573T |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,603,845 (GRCm38) |
D494G |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 122,633,493 (GRCm38) |
E438G |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,411,219 (GRCm38) |
D37G |
possibly damaging |
Het |
| Ddx54 |
G |
A |
5: 120,623,791 (GRCm38) |
G544D |
possibly damaging |
Het |
| Dok2 |
G |
T |
14: 70,777,861 (GRCm38) |
G343W |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,447,703 (GRCm38) |
N87D |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,266,991 (GRCm38) |
Y237C |
probably damaging |
Het |
| Exoc3 |
T |
C |
13: 74,180,536 (GRCm38) |
T569A |
probably damaging |
Het |
| Fam151a |
T |
C |
4: 106,747,875 (GRCm38) |
V478A |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 126,101,004 (GRCm38) |
H291L |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,502,601 (GRCm38) |
T186A |
unknown |
Het |
| Ggnbp2 |
T |
C |
11: 84,833,128 (GRCm38) |
Y660C |
probably damaging |
Het |
| Ggt5 |
G |
A |
10: 75,608,803 (GRCm38) |
M318I |
probably benign |
Het |
| Gprc5d |
A |
G |
6: 135,116,177 (GRCm38) |
I244T |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,232,787 (GRCm38) |
S429P |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,702,005 (GRCm38) |
D1341G |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,700,027 (GRCm38) |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,541,671 (GRCm38) |
D173G |
probably damaging |
Het |
| Lrrc27 |
C |
T |
7: 139,230,253 (GRCm38) |
T380I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,629,404 (GRCm38) |
N125S |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,544,541 (GRCm38) |
R2217C |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,411,231 (GRCm38) |
R866W |
probably damaging |
Het |
| Olfr1424 |
C |
A |
19: 12,059,549 (GRCm38) |
V68F |
probably benign |
Het |
| Olfr982 |
T |
A |
9: 40,074,671 (GRCm38) |
Y125* |
probably null |
Het |
| P2ry6 |
T |
A |
7: 100,938,864 (GRCm38) |
D96V |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,756,156 (GRCm38) |
S237T |
probably benign |
Het |
| Pck2 |
G |
A |
14: 55,542,510 (GRCm38) |
R72Q |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 116,346,188 (GRCm38) |
R1461Q |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,454,610 (GRCm38) |
V1130A |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,327,006 (GRCm38) |
D198E |
probably benign |
Het |
| Rasa1 |
T |
A |
13: 85,216,155 (GRCm38) |
E1022D |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,671,974 (GRCm38) |
Y507H |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,144,260 (GRCm38) |
I488K |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,759,759 (GRCm38) |
E1170D |
probably damaging |
Het |
| Sdk2 |
T |
G |
11: 113,834,830 (GRCm38) |
T1198P |
probably damaging |
Het |
| Sema3g |
C |
T |
14: 31,227,824 (GRCm38) |
T654I |
probably benign |
Het |
| Spag9 |
A |
T |
11: 94,108,582 (GRCm38) |
H1108L |
probably damaging |
Het |
| Tcrg-C2 |
T |
A |
13: 19,307,410 (GRCm38) |
|
probably benign |
Het |
| Ubap2 |
T |
C |
4: 41,229,709 (GRCm38) |
N142S |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,381,794 (GRCm38) |
F699L |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,873,140 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Cndp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Cndp2
|
APN |
18 |
84,677,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01143:Cndp2
|
APN |
18 |
84,677,317 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01310:Cndp2
|
APN |
18 |
84,670,877 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01408:Cndp2
|
APN |
18 |
84,670,911 (GRCm38) |
missense |
probably benign |
|
|
IGL01520:Cndp2
|
APN |
18 |
84,668,607 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1108:Cndp2
|
UTSW |
18 |
84,675,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1264:Cndp2
|
UTSW |
18 |
84,678,791 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1466:Cndp2
|
UTSW |
18 |
84,677,315 (GRCm38) |
splice site |
probably benign |
|
|
R1584:Cndp2
|
UTSW |
18 |
84,677,315 (GRCm38) |
splice site |
probably benign |
|
|
R2363:Cndp2
|
UTSW |
18 |
84,668,569 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2383:Cndp2
|
UTSW |
18 |
84,675,090 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R3153:Cndp2
|
UTSW |
18 |
84,668,597 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4590:Cndp2
|
UTSW |
18 |
84,669,808 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4788:Cndp2
|
UTSW |
18 |
84,675,164 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5033:Cndp2
|
UTSW |
18 |
84,670,829 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5154:Cndp2
|
UTSW |
18 |
84,668,602 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5178:Cndp2
|
UTSW |
18 |
84,675,028 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5326:Cndp2
|
UTSW |
18 |
84,672,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5542:Cndp2
|
UTSW |
18 |
84,672,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5556:Cndp2
|
UTSW |
18 |
84,672,124 (GRCm38) |
missense |
probably benign |
0.38 |
|
R5722:Cndp2
|
UTSW |
18 |
84,668,078 (GRCm38) |
nonsense |
probably null |
|
|
R6431:Cndp2
|
UTSW |
18 |
84,675,078 (GRCm38) |
nonsense |
probably null |
|
|
R6682:Cndp2
|
UTSW |
18 |
84,677,330 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7036:Cndp2
|
UTSW |
18 |
84,669,945 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7728:Cndp2
|
UTSW |
18 |
84,672,077 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7806:Cndp2
|
UTSW |
18 |
84,670,820 (GRCm38) |
missense |
probably benign |
|
|
R8018:Cndp2
|
UTSW |
18 |
84,668,602 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8929:Cndp2
|
UTSW |
18 |
84,675,173 (GRCm38) |
missense |
probably benign |
0.20 |
|
R8949:Cndp2
|
UTSW |
18 |
84,675,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9127:Cndp2
|
UTSW |
18 |
84,680,996 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9455:Cndp2
|
UTSW |
18 |
84,672,121 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation