Incidental Mutation 'R2896:Cmklr2'
| ID |
260780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmklr2
|
| Ensembl Gene |
ENSMUSG00000046856 |
| Gene Name |
chemerin chemokine-like receptor 2 |
| Synonyms |
Gpr1 |
| MMRRC Submission |
040484-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2896 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63221850-63253702 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 63222321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 305
(I305L)
|
| 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 benign
Transcript: ENSMUST00000050536
AA Change: I305L
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000051417
Gene: ENSMUSG00000046856
AA Change: I305L
| 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: ENSMUST00000199062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148553
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
| Bpifb4 |
T |
G |
2: 153,796,357 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,828,100 (GRCm39) |
L616Q |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,956,680 (GRCm39) |
L381P |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Esp6 |
T |
A |
17: 40,873,834 (GRCm39) |
M7K |
possibly damaging |
Het |
| Fam83d |
G |
A |
2: 158,627,898 (GRCm39) |
R529Q |
probably damaging |
Het |
| Gm26526 |
T |
G |
7: 39,238,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8374 |
T |
A |
14: 18,537,084 (GRCm39) |
R47* |
probably null |
Het |
| Gss |
A |
G |
2: 155,406,749 (GRCm39) |
L342P |
probably damaging |
Het |
| Ighv1-67 |
T |
A |
12: 115,567,595 (GRCm39) |
T106S |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,081,955 (GRCm39) |
Y668H |
possibly damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,020,809 (GRCm39) |
R245G |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
| Pdcl |
A |
T |
2: 37,245,702 (GRCm39) |
D100E |
possibly damaging |
Het |
| Phkg1 |
C |
A |
5: 129,893,471 (GRCm39) |
K326N |
possibly damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Prss1 |
G |
A |
6: 41,440,639 (GRCm39) |
W238* |
probably null |
Het |
| Rdh10 |
A |
T |
1: 16,176,329 (GRCm39) |
|
probably null |
Het |
| Ror1 |
T |
C |
4: 99,953,477 (GRCm39) |
L21P |
unknown |
Het |
| Skint8 |
A |
G |
4: 111,807,333 (GRCm39) |
I340V |
probably null |
Het |
| Spata18 |
T |
C |
5: 73,815,145 (GRCm39) |
S85P |
probably damaging |
Het |
| Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
| Ttll3 |
G |
T |
6: 113,369,683 (GRCm39) |
A76S |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,873,083 (GRCm39) |
H35R |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,182,955 (GRCm39) |
|
probably null |
Het |
| Zfp456 |
T |
C |
13: 67,515,416 (GRCm39) |
R97G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGTGGATCAGAATGCAAC -3'
(R):5'- GATCCTGTCTGTGGTCATTGCC -3'
Sequencing Primer
(F):5'- GGCTCACATGAAAACTTTGCACTG -3'
(R):5'- GCCTTCTTGGTTTGCTGGACC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation