Incidental Mutation 'R5131:Cmklr2'
ID |
394984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmklr2
|
Ensembl Gene |
ENSMUSG00000046856 |
Gene Name |
chemerin chemokine-like receptor 2 |
Synonyms |
Gpr1 |
MMRRC Submission |
042719-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5131 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
63221850-63253702 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 63222840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 132
(S132C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027108]
[ENSMUST00000050536]
[ENSMUST00000129339]
[ENSMUST00000135877]
[ENSMUST00000142062]
[ENSMUST00000174890]
[ENSMUST00000188524]
|
AlphaFold |
Q8K087 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027108
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050536
AA Change: S132C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051417 Gene: ENSMUSG00000046856 AA Change: S132C
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: 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 |
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
C |
T |
4: 40,163,797 (GRCm39) |
P17S |
probably benign |
Het |
Arhgap35 |
A |
G |
7: 16,245,112 (GRCm39) |
|
probably null |
Het |
Brd3 |
A |
T |
2: 27,343,427 (GRCm39) |
N480K |
probably benign |
Het |
Ccnk |
T |
C |
12: 108,168,890 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cdh1 |
T |
C |
8: 107,390,430 (GRCm39) |
V590A |
possibly damaging |
Het |
Cert1 |
A |
G |
13: 96,751,343 (GRCm39) |
D331G |
probably damaging |
Het |
Cic |
TCCCCC |
TCCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably benign |
Het |
Cyp4a12a |
T |
A |
4: 115,185,017 (GRCm39) |
D399E |
possibly damaging |
Het |
Dnah11 |
A |
C |
12: 117,918,486 (GRCm39) |
Y3482D |
probably damaging |
Het |
Gtf3c3 |
A |
T |
1: 54,458,657 (GRCm39) |
|
probably null |
Het |
Gzmk |
G |
T |
13: 113,310,482 (GRCm39) |
A73E |
probably benign |
Het |
Hnrnpul1 |
A |
G |
7: 25,426,219 (GRCm39) |
V444A |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,842,678 (GRCm39) |
S864P |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,260,686 (GRCm39) |
V4515E |
possibly damaging |
Het |
Map3k19 |
A |
T |
1: 127,751,427 (GRCm39) |
N641K |
possibly damaging |
Het |
Mesp2 |
A |
G |
7: 79,461,475 (GRCm39) |
T267A |
possibly damaging |
Het |
Mipep |
T |
C |
14: 61,140,823 (GRCm39) |
L682P |
probably damaging |
Het |
Nalcn |
G |
T |
14: 123,753,182 (GRCm39) |
T268K |
probably damaging |
Het |
Ncam2 |
T |
C |
16: 81,234,550 (GRCm39) |
V135A |
probably benign |
Het |
Ndufaf6 |
G |
T |
4: 11,060,931 (GRCm39) |
T215K |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,319,317 (GRCm39) |
D183G |
probably damaging |
Het |
Pate9 |
C |
T |
9: 36,446,242 (GRCm39) |
A57T |
possibly damaging |
Het |
Pax2 |
G |
T |
19: 44,749,394 (GRCm39) |
V41L |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,616,830 (GRCm39) |
N1804I |
probably damaging |
Het |
Phtf2 |
A |
T |
5: 20,979,050 (GRCm39) |
V526E |
probably damaging |
Het |
Ppp1ca |
G |
A |
19: 4,244,895 (GRCm39) |
C291Y |
probably damaging |
Het |
Prag1 |
G |
T |
8: 36,607,123 (GRCm39) |
G955C |
probably damaging |
Het |
Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
Rap1b |
C |
T |
10: 117,660,516 (GRCm39) |
V14I |
probably damaging |
Het |
Rnf181 |
G |
A |
6: 72,337,811 (GRCm39) |
|
probably null |
Het |
Rsbn1l |
G |
A |
5: 21,101,243 (GRCm39) |
R766C |
possibly damaging |
Het |
Rusc2 |
C |
T |
4: 43,414,948 (GRCm39) |
P85S |
probably benign |
Het |
Rxfp1 |
T |
C |
3: 79,559,471 (GRCm39) |
|
probably null |
Het |
Serpinb6a |
T |
A |
13: 34,102,855 (GRCm39) |
M202L |
probably benign |
Het |
Snd1 |
T |
C |
6: 28,885,049 (GRCm39) |
F800S |
probably damaging |
Het |
Tbc1d2b |
G |
A |
9: 90,091,812 (GRCm39) |
T830I |
probably damaging |
Het |
Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,284,841 (GRCm39) |
D598G |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,545,607 (GRCm39) |
D622G |
probably damaging |
Het |
Zbtb43 |
A |
T |
2: 33,344,778 (GRCm39) |
M112K |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGAACTTCACCCAGGTCAG -3'
(R):5'- GGTTCCTCAATCTGGCCATC -3'
Sequencing Primer
(F):5'- CAGGTCAGAACATGGTGTCTCATC -3'
(R):5'- AATCTGGCCATCGCAGACTTC -3'
|
Posted On |
2016-06-21 |