Incidental Mutation 'R1264:Cndp2'
ID |
151130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cndp2
|
Ensembl Gene |
ENSMUSG00000024644 |
Gene Name |
CNDP dipeptidase 2 |
Synonyms |
Pep-1, Pep1, Cn2, 0610010E05Rik, Dip-2 |
MMRRC Submission |
039331-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1264 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
84685590-84703827 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 84696916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 95
(C95F)
|
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: C95F
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000025546 Gene: ENSMUSG00000024644 AA Change: C95F
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: C95F
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128696 Gene: ENSMUSG00000024644 AA Change: C95F
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 |
|
Meta Mutation Damage Score |
0.3675 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,592,103 (GRCm39) |
|
probably benign |
Het |
Acadl |
A |
T |
1: 66,896,712 (GRCm39) |
C27S |
probably benign |
Het |
Adgrb3 |
C |
T |
1: 25,598,931 (GRCm39) |
G258E |
probably damaging |
Het |
Akna |
T |
C |
4: 63,299,962 (GRCm39) |
|
probably null |
Het |
Angpt2 |
T |
C |
8: 18,791,233 (GRCm39) |
N21S |
probably benign |
Het |
Ano6 |
A |
G |
15: 95,847,447 (GRCm39) |
Y585C |
probably damaging |
Het |
Ascc3 |
A |
T |
10: 50,518,615 (GRCm39) |
|
probably benign |
Het |
Clec10a |
T |
A |
11: 70,060,567 (GRCm39) |
S103T |
possibly damaging |
Het |
Clstn2 |
T |
C |
9: 97,339,662 (GRCm39) |
R770G |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
Col4a3 |
A |
T |
1: 82,621,022 (GRCm39) |
|
probably benign |
Het |
Daam1 |
A |
G |
12: 72,022,085 (GRCm39) |
|
probably benign |
Het |
H2-M9 |
A |
G |
17: 36,953,484 (GRCm39) |
V18A |
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,439,491 (GRCm39) |
|
probably benign |
Het |
Impg1 |
T |
C |
9: 80,221,675 (GRCm39) |
D715G |
probably benign |
Het |
Incenp |
T |
C |
19: 9,861,379 (GRCm39) |
K425E |
unknown |
Het |
Kif13b |
T |
C |
14: 65,013,681 (GRCm39) |
|
probably benign |
Het |
Msh2 |
T |
A |
17: 88,014,607 (GRCm39) |
|
probably null |
Het |
Myh2 |
A |
G |
11: 67,071,604 (GRCm39) |
N474D |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,978,185 (GRCm39) |
T1246A |
probably benign |
Het |
Nob1 |
T |
C |
8: 108,148,136 (GRCm39) |
H102R |
probably damaging |
Het |
Or4z4 |
G |
T |
19: 12,076,198 (GRCm39) |
D268E |
probably benign |
Het |
Pard3b |
A |
T |
1: 62,203,316 (GRCm39) |
I415F |
probably damaging |
Het |
Pfkl |
T |
G |
10: 77,829,250 (GRCm39) |
K386T |
possibly damaging |
Het |
Plekhs1 |
T |
C |
19: 56,474,195 (GRCm39) |
V447A |
probably benign |
Het |
Poli |
C |
T |
18: 70,650,574 (GRCm39) |
V266I |
probably benign |
Het |
Rapgef4 |
A |
T |
2: 71,861,449 (GRCm39) |
K46N |
possibly damaging |
Het |
Shisa6 |
T |
C |
11: 66,265,975 (GRCm39) |
|
probably benign |
Het |
Six3 |
T |
A |
17: 85,929,285 (GRCm39) |
D206E |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,060,158 (GRCm39) |
E944D |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,659,381 (GRCm39) |
F1173S |
probably damaging |
Het |
Tfdp1 |
C |
A |
8: 13,423,837 (GRCm39) |
|
probably benign |
Het |
Trrap |
A |
G |
5: 144,726,409 (GRCm39) |
|
probably benign |
Het |
Wbp11 |
A |
G |
6: 136,791,513 (GRCm39) |
|
probably benign |
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 |
|
IGL01520:Cndp2
|
APN |
18 |
84,686,732 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCCCACCGAGGACTTGTTATG -3'
(R):5'- ACGCAGGCTGATGGATGACAAC -3'
Sequencing Primer
(F):5'- TGAGGCACAAATGAGAAACTTCC -3'
(R):5'- TGGATGACAACAGACAAGACC -3'
|
Posted On |
2014-01-29 |