Incidental Mutation 'IGL02426:Cmklr2'
| ID |
292922 |
| 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 # |
IGL02426
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
63221850-63253702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63222827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 136
(Y136C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027108]
[ENSMUST00000050536]
[ENSMUST00000129339]
[ENSMUST00000135877]
[ENSMUST00000174890]
[ENSMUST00000188524]
[ENSMUST00000142062]
|
| AlphaFold |
Q8K087 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027108
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050536
AA Change: Y136C
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051417
Gene: ENSMUSG00000046856
AA Change: Y136C
| 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 |
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000199062
|
| 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 |
|
| 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: ENSMUST00000142062
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,157,675 (GRCm39) |
T1294M |
probably damaging |
Het |
| Bad |
A |
G |
19: 6,928,785 (GRCm39) |
S128G |
probably damaging |
Het |
| Casp9 |
T |
G |
4: 141,539,515 (GRCm39) |
|
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,879,547 (GRCm39) |
K507R |
possibly damaging |
Het |
| Cep76 |
A |
G |
18: 67,767,987 (GRCm39) |
S182P |
probably benign |
Het |
| Cmtr2 |
A |
G |
8: 110,948,322 (GRCm39) |
M211V |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,351 (GRCm39) |
K777* |
probably null |
Het |
| Cul9 |
T |
G |
17: 46,834,184 (GRCm39) |
T1253P |
possibly damaging |
Het |
| Dmd |
T |
A |
X: 83,892,342 (GRCm39) |
L3002H |
probably damaging |
Het |
| Dnah9 |
C |
T |
11: 66,015,979 (GRCm39) |
V421I |
probably benign |
Het |
| Eif4a2 |
A |
G |
16: 22,929,399 (GRCm39) |
I234V |
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,421,514 (GRCm39) |
M323V |
probably benign |
Het |
| Fam47c |
A |
G |
X: 77,781,943 (GRCm39) |
D175G |
probably benign |
Het |
| Gm14178 |
T |
C |
11: 99,638,341 (GRCm39) |
|
|
Het |
| Hes3 |
T |
C |
4: 152,371,397 (GRCm39) |
N184S |
probably benign |
Het |
| Kdm6a |
A |
G |
X: 18,112,549 (GRCm39) |
E45G |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,135,126 (GRCm39) |
K33E |
probably benign |
Het |
| Or2a52 |
A |
C |
6: 43,144,022 (GRCm39) |
D10A |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,158,920 (GRCm39) |
D52V |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,394,883 (GRCm39) |
I302K |
probably benign |
Het |
| Or52n4b |
A |
G |
7: 108,144,187 (GRCm39) |
T150A |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,720,964 (GRCm39) |
L185S |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,196,296 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,448,120 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,290,771 (GRCm39) |
T1197A |
possibly damaging |
Het |
| Plppr4 |
T |
C |
3: 117,115,944 (GRCm39) |
I638V |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,693,229 (GRCm39) |
D83G |
possibly damaging |
Het |
| Rtl9 |
T |
C |
X: 141,886,098 (GRCm39) |
V1170A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,731,250 (GRCm39) |
S687P |
possibly damaging |
Het |
| Skint5 |
T |
C |
4: 113,797,981 (GRCm39) |
T201A |
probably benign |
Het |
| Socs5 |
G |
T |
17: 87,442,320 (GRCm39) |
R420L |
probably damaging |
Het |
| Sos1 |
C |
T |
17: 80,742,372 (GRCm39) |
S385N |
possibly damaging |
Het |
| Tomm34 |
A |
T |
2: 163,906,875 (GRCm39) |
V106D |
probably damaging |
Het |
| Tubal3 |
T |
C |
13: 3,982,750 (GRCm39) |
S177P |
probably damaging |
Het |
| Wbp2nl |
G |
A |
15: 82,190,374 (GRCm39) |
A101T |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation