Incidental Mutation 'IGL00427:Cmklr2'
ID |
7458 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cmklr2
|
Ensembl Gene |
ENSMUSG00000046856 |
Gene Name |
chemerin chemokine-like receptor 2 |
Synonyms |
Gpr1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00427
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
63221850-63253702 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63222497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 246
(I246N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027108]
[ENSMUST00000050536]
[ENSMUST00000129339]
[ENSMUST00000142062]
[ENSMUST00000188524]
[ENSMUST00000135877]
[ENSMUST00000174890]
|
AlphaFold |
Q8K087 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027108
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050536
AA Change: I246N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000051417 Gene: ENSMUSG00000046856 AA Change: I246N
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
55 |
302 |
3.9e-40 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082668
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082678
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126469
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126795
|
SMART Domains |
Protein: ENSMUSP00000134341 Gene: ENSMUSG00000025967
Domain | Start | End | E-Value | Type |
SCOP:d1aw9_1
|
4 |
62 |
8e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129339
|
SMART Domains |
Protein: ENSMUSP00000116492 Gene: ENSMUSG00000025967
Domain | Start | End | E-Value | Type |
EF-1_beta_acid
|
103 |
130 |
2.53e-4 |
SMART |
EF1_GNE
|
139 |
225 |
3.86e-44 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148553
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199062
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142062
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188524
|
SMART Domains |
Protein: ENSMUSP00000140895 Gene: ENSMUSG00000025967
Domain | Start | End | E-Value | Type |
EF-1_beta_acid
|
62 |
89 |
1.2e-8 |
SMART |
EF1_GNE
|
98 |
184 |
2.9e-48 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135877
|
SMART Domains |
Protein: ENSMUSP00000137671 Gene: ENSMUSG00000025967
Domain | Start | End | E-Value | Type |
transmembrane domain
|
38 |
57 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174890
|
SMART Domains |
Protein: ENSMUSP00000133545 Gene: ENSMUSG00000025967
Domain | Start | End | E-Value | Type |
Blast:WHEP
|
3 |
64 |
3e-6 |
BLAST |
SCOP:d1aw9_1
|
7 |
65 |
2e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy3 |
A |
G |
12: 4,244,357 (GRCm39) |
D289G |
probably damaging |
Het |
Adnp |
C |
T |
2: 168,024,482 (GRCm39) |
D938N |
probably benign |
Het |
Arpin |
T |
A |
7: 79,577,423 (GRCm39) |
N208I |
probably benign |
Het |
Cby3 |
A |
G |
11: 50,248,638 (GRCm39) |
|
probably benign |
Het |
Cnih4 |
T |
A |
1: 180,981,312 (GRCm39) |
S28T |
probably damaging |
Het |
D130052B06Rik |
G |
T |
11: 33,573,558 (GRCm39) |
V97L |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,407,631 (GRCm39) |
E2067G |
probably damaging |
Het |
Dennd6a |
C |
T |
14: 26,329,768 (GRCm39) |
T113I |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,882,305 (GRCm39) |
F1590L |
possibly damaging |
Het |
Dop1a |
G |
T |
9: 86,403,553 (GRCm39) |
Q1582H |
probably benign |
Het |
Dop1a |
A |
T |
9: 86,403,552 (GRCm39) |
Q1582L |
probably damaging |
Het |
Dop1a |
C |
A |
9: 86,403,551 (GRCm39) |
Q1582K |
possibly damaging |
Het |
Ebna1bp2 |
A |
T |
4: 118,483,018 (GRCm39) |
K291M |
probably damaging |
Het |
Evpl |
G |
T |
11: 116,125,331 (GRCm39) |
Q73K |
probably benign |
Het |
Fam131b |
G |
T |
6: 42,295,895 (GRCm39) |
T139K |
probably damaging |
Het |
Golga3 |
A |
G |
5: 110,368,753 (GRCm39) |
T1358A |
probably damaging |
Het |
Hgf |
G |
A |
5: 16,783,484 (GRCm39) |
D265N |
probably benign |
Het |
Homer1 |
A |
G |
13: 93,538,622 (GRCm39) |
N333S |
probably benign |
Het |
Igkv17-134 |
A |
T |
6: 67,697,968 (GRCm39) |
|
probably benign |
Het |
Il16 |
T |
C |
7: 83,301,666 (GRCm39) |
D152G |
probably benign |
Het |
Ireb2 |
T |
C |
9: 54,806,766 (GRCm39) |
|
probably benign |
Het |
Itgb2 |
C |
T |
10: 77,393,790 (GRCm39) |
T410I |
probably benign |
Het |
Kctd14 |
C |
A |
7: 97,106,919 (GRCm39) |
A111E |
possibly damaging |
Het |
Lmod3 |
A |
C |
6: 97,229,258 (GRCm39) |
V92G |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,070,973 (GRCm39) |
D83G |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,111,691 (GRCm39) |
E1682G |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,750,342 (GRCm39) |
|
probably benign |
Het |
Nlrc4 |
T |
C |
17: 74,754,087 (GRCm39) |
N99D |
probably benign |
Het |
P2rx3 |
A |
G |
2: 84,865,616 (GRCm39) |
Y10H |
probably damaging |
Het |
Pcsk7 |
C |
A |
9: 45,838,958 (GRCm39) |
D623E |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,297,980 (GRCm39) |
I1766T |
probably damaging |
Het |
Ptk7 |
T |
C |
17: 46,885,353 (GRCm39) |
Y691C |
probably damaging |
Het |
Rec8 |
A |
T |
14: 55,856,108 (GRCm39) |
T17S |
probably damaging |
Het |
Rtraf-ps |
A |
C |
3: 88,484,230 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,804,162 (GRCm39) |
|
probably benign |
Het |
Scg3 |
T |
G |
9: 75,570,519 (GRCm39) |
K345T |
probably damaging |
Het |
Serpina3b |
A |
T |
12: 104,099,200 (GRCm39) |
K238N |
probably benign |
Het |
Slc38a9 |
T |
A |
13: 112,838,152 (GRCm39) |
S306T |
probably damaging |
Het |
Txndc16 |
A |
G |
14: 45,382,547 (GRCm39) |
|
probably benign |
Het |
Vmn1r238 |
T |
A |
18: 3,123,243 (GRCm39) |
Y57F |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,258,501 (GRCm39) |
S548T |
probably damaging |
Het |
Xrcc1 |
T |
A |
7: 24,247,309 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cmklr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01086:Cmklr2
|
APN |
1 |
63,222,650 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01490:Cmklr2
|
APN |
1 |
63,222,455 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02409:Cmklr2
|
APN |
1 |
63,222,875 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02426:Cmklr2
|
APN |
1 |
63,222,827 (GRCm39) |
missense |
probably damaging |
0.97 |
R0218:Cmklr2
|
UTSW |
1 |
63,222,690 (GRCm39) |
missense |
probably benign |
0.25 |
R2088:Cmklr2
|
UTSW |
1 |
63,222,811 (GRCm39) |
splice site |
probably null |
|
R2166:Cmklr2
|
UTSW |
1 |
63,223,107 (GRCm39) |
missense |
probably benign |
|
R2895:Cmklr2
|
UTSW |
1 |
63,222,321 (GRCm39) |
missense |
probably benign |
0.24 |
R2896:Cmklr2
|
UTSW |
1 |
63,222,321 (GRCm39) |
missense |
probably benign |
0.24 |
R5102:Cmklr2
|
UTSW |
1 |
63,222,326 (GRCm39) |
missense |
probably damaging |
0.99 |
R5131:Cmklr2
|
UTSW |
1 |
63,222,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R5471:Cmklr2
|
UTSW |
1 |
63,223,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R5652:Cmklr2
|
UTSW |
1 |
63,222,626 (GRCm39) |
missense |
probably benign |
0.00 |
R6187:Cmklr2
|
UTSW |
1 |
63,222,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R7956:Cmklr2
|
UTSW |
1 |
63,222,665 (GRCm39) |
missense |
probably damaging |
0.99 |
R8953:Cmklr2
|
UTSW |
1 |
63,222,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R9031:Cmklr2
|
UTSW |
1 |
63,223,145 (GRCm39) |
missense |
probably benign |
0.03 |
X0060:Cmklr2
|
UTSW |
1 |
63,222,218 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Cmklr2
|
UTSW |
1 |
63,222,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-04-20 |