Incidental Mutation 'IGL01490:Cmklr2'
| ID |
88816 |
| 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 # |
IGL01490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
63221850-63253702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63222455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 260
(Y260C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027108]
[ENSMUST00000050536]
[ENSMUST00000129339]
[ENSMUST00000188524]
[ENSMUST00000135877]
[ENSMUST00000142062]
[ENSMUST00000174890]
|
| AlphaFold |
Q8K087 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027108
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050536
AA Change: Y260C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051417
Gene: ENSMUSG00000046856
AA Change: Y260C
| 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: 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: ENSMUST00000142062
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,336,023 (GRCm39) |
Y2131C |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,846,291 (GRCm39) |
S510T |
probably benign |
Het |
| Asb16 |
A |
T |
11: 102,167,575 (GRCm39) |
N314Y |
probably damaging |
Het |
| Atp6v0b |
G |
A |
4: 117,742,303 (GRCm39) |
Q150* |
probably null |
Het |
| Chct1 |
A |
G |
11: 85,069,138 (GRCm39) |
D52G |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Crim1 |
A |
G |
17: 78,642,725 (GRCm39) |
D481G |
possibly damaging |
Het |
| Dnajb2 |
T |
C |
1: 75,213,534 (GRCm39) |
S3P |
probably damaging |
Het |
| Dnajb9 |
A |
T |
12: 44,253,869 (GRCm39) |
S179R |
possibly damaging |
Het |
| Dock2 |
A |
T |
11: 34,596,608 (GRCm39) |
I416N |
probably damaging |
Het |
| Dock7 |
G |
T |
4: 98,833,355 (GRCm39) |
|
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,668,102 (GRCm39) |
I46V |
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,686 (GRCm39) |
D374G |
probably benign |
Het |
| Gatad2b |
A |
G |
3: 90,259,385 (GRCm39) |
I374V |
possibly damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,717,954 (GRCm39) |
|
probably benign |
Het |
| H2-M10.2 |
G |
T |
17: 36,596,377 (GRCm39) |
T156K |
probably damaging |
Het |
| Il20rb |
T |
A |
9: 100,355,207 (GRCm39) |
I79F |
probably damaging |
Het |
| Kcnip3 |
C |
T |
2: 127,352,799 (GRCm39) |
R44H |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,057,579 (GRCm39) |
D551V |
possibly damaging |
Het |
| Mex3b |
C |
A |
7: 82,519,035 (GRCm39) |
P450Q |
possibly damaging |
Het |
| Mmp20 |
T |
C |
9: 7,628,330 (GRCm39) |
L26P |
probably benign |
Het |
| Msh3 |
G |
A |
13: 92,436,813 (GRCm39) |
T499M |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,566 (GRCm39) |
S1466G |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,538,089 (GRCm39) |
R1324G |
possibly damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
T |
A |
6: 124,705,307 (GRCm39) |
E208V |
probably damaging |
Het |
| Qpct |
T |
C |
17: 79,397,169 (GRCm39) |
V354A |
probably benign |
Het |
| Rfx4 |
A |
G |
10: 84,676,715 (GRCm39) |
I108V |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,057,422 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
A |
T |
12: 28,796,914 (GRCm39) |
I206N |
probably damaging |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,132 (GRCm39) |
K122N |
probably benign |
Het |
| Wdr35 |
G |
T |
12: 9,027,381 (GRCm39) |
G54V |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,291,147 (GRCm39) |
C2153S |
probably damaging |
Het |
|
| Other mutations in Cmklr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Cmklr2
|
APN |
1 |
63,222,497 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01086:Cmklr2
|
APN |
1 |
63,222,650 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-11-18 |
Incidental Mutation