Incidental Mutation 'R5722:Cndp2'
ID |
452299 |
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 |
043340-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5722 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
84685590-84703827 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 84686203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 461
(K461*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128696
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025546]
[ENSMUST00000168419]
|
AlphaFold |
Q9D1A2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025546
AA Change: K461*
|
SMART Domains |
Protein: ENSMUSP00000025546 Gene: ENSMUSG00000024644 AA Change: K461*
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 null
Transcript: ENSMUST00000168419
AA Change: K461*
|
SMART Domains |
Protein: ENSMUSP00000128696 Gene: ENSMUSG00000024644 AA Change: K461*
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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.0%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
G |
A |
3: 32,772,194 (GRCm39) |
R164H |
probably damaging |
Het |
Afg3l2 |
A |
G |
18: 67,573,269 (GRCm39) |
Y178H |
probably benign |
Het |
Agtr1a |
A |
G |
13: 30,566,016 (GRCm39) |
*360W |
probably null |
Het |
Arfgef1 |
A |
G |
1: 10,209,109 (GRCm39) |
V1830A |
probably benign |
Het |
Asic2 |
A |
T |
11: 81,858,806 (GRCm39) |
S69T |
probably benign |
Het |
Axin1 |
A |
T |
17: 26,401,531 (GRCm39) |
N368Y |
probably damaging |
Het |
Brme1 |
A |
G |
8: 84,898,473 (GRCm39) |
E537G |
probably damaging |
Het |
Ces1d |
G |
A |
8: 93,904,756 (GRCm39) |
P328L |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,620,852 (GRCm39) |
H977L |
probably benign |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Glg1 |
T |
C |
8: 111,896,194 (GRCm39) |
T177A |
possibly damaging |
Het |
Gm7168 |
T |
C |
17: 14,169,824 (GRCm39) |
V397A |
probably benign |
Het |
Hif1a |
T |
A |
12: 73,988,533 (GRCm39) |
D535E |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ice1 |
T |
C |
13: 70,763,219 (GRCm39) |
E173G |
possibly damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,329,909 (GRCm39) |
V115A |
probably damaging |
Het |
Irf2 |
A |
T |
8: 47,271,831 (GRCm39) |
E101D |
possibly damaging |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kyat1 |
C |
T |
2: 30,078,123 (GRCm39) |
C127Y |
probably damaging |
Het |
Mrgpra4 |
T |
C |
7: 47,630,755 (GRCm39) |
H282R |
probably benign |
Het |
Npsr1 |
C |
A |
9: 24,225,096 (GRCm39) |
P368Q |
probably damaging |
Het |
Nwd1 |
G |
A |
8: 73,401,872 (GRCm39) |
V839M |
probably damaging |
Het |
Or51a43 |
T |
A |
7: 103,717,930 (GRCm39) |
M103L |
probably damaging |
Het |
Or6n2 |
G |
T |
1: 173,897,436 (GRCm39) |
D191Y |
probably damaging |
Het |
P4ha3 |
A |
G |
7: 99,955,198 (GRCm39) |
D351G |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,479,160 (GRCm39) |
|
probably null |
Het |
Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
G |
T |
1: 133,031,574 (GRCm39) |
G1505W |
probably damaging |
Het |
Plppr5 |
A |
T |
3: 117,414,714 (GRCm39) |
I112L |
probably benign |
Het |
Potefam1 |
T |
A |
2: 111,034,468 (GRCm39) |
T355S |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,226 (GRCm39) |
I575T |
possibly damaging |
Het |
Ranbp3l |
A |
G |
15: 9,029,656 (GRCm39) |
E46G |
probably damaging |
Het |
Rbm46 |
A |
G |
3: 82,772,640 (GRCm39) |
V164A |
possibly damaging |
Het |
Sap25 |
A |
G |
5: 137,639,713 (GRCm39) |
E13G |
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,899,860 (GRCm39) |
V1269E |
possibly damaging |
Het |
Smgc |
T |
A |
15: 91,726,109 (GRCm39) |
S18R |
possibly damaging |
Het |
Snrk |
T |
C |
9: 121,993,072 (GRCm39) |
I345T |
probably benign |
Het |
Sp4 |
T |
A |
12: 118,262,976 (GRCm39) |
I357F |
possibly damaging |
Het |
Sra1 |
A |
G |
18: 36,808,031 (GRCm39) |
L399P |
probably damaging |
Het |
Stat6 |
A |
G |
10: 127,494,242 (GRCm39) |
T658A |
probably benign |
Het |
Sv2a |
G |
A |
3: 96,092,339 (GRCm39) |
R13H |
probably benign |
Het |
Thoc3 |
G |
T |
13: 54,608,014 (GRCm39) |
T310N |
probably damaging |
Het |
Tox3 |
A |
C |
8: 91,074,489 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
G |
9: 8,680,550 (GRCm39) |
E848G |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,538,590 (GRCm39) |
T34703S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,776,312 (GRCm39) |
I1577V |
probably damaging |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Ugt2b36 |
C |
T |
5: 87,240,297 (GRCm39) |
W29* |
probably null |
Het |
Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
Zfp790 |
C |
A |
7: 29,529,514 (GRCm39) |
S733* |
probably null |
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 |
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 |
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'- ACAGCTGGAGGCAATGTCTC -3'
(R):5'- CTCTTCTTGAGAACCATCAGGC -3'
Sequencing Primer
(F):5'- GAGGCAATGTCTCCATTCTTGC -3'
(R):5'- GAACCATCAGGCTGAATTATAAAGTC -3'
|
Posted On |
2017-01-03 |