Incidental Mutation 'IGL02246:Cmklr1'
ID |
286203 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cmklr1
|
Ensembl Gene |
ENSMUSG00000042190 |
Gene Name |
chemerin chemokine-like receptor 1 |
Synonyms |
ChemR23, Gpcr27 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.258)
|
Stock # |
IGL02246
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
113750415-113788487 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113752461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 180
(N180S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047936]
[ENSMUST00000132065]
[ENSMUST00000142854]
|
AlphaFold |
P97468 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047936
AA Change: N180S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036316 Gene: ENSMUSG00000042190 AA Change: N180S
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
55 |
314 |
2.6e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132065
AA Change: N180S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000121765 Gene: ENSMUSG00000042190 AA Change: N180S
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
55 |
301 |
5e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142854
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice have defects in immunomodulation of monocyte and neutriphils by chemerin [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427I04Rik |
G |
T |
4: 123,754,655 (GRCm39) |
D190Y |
probably damaging |
Het |
Acat1 |
G |
A |
9: 53,496,166 (GRCm39) |
L324F |
probably benign |
Het |
Ago2 |
T |
C |
15: 72,980,267 (GRCm39) |
H743R |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,985,632 (GRCm39) |
L2305F |
probably damaging |
Het |
Ankhd1 |
T |
A |
18: 36,789,779 (GRCm39) |
H2438Q |
probably damaging |
Het |
Atm |
G |
T |
9: 53,438,485 (GRCm39) |
Q162K |
probably benign |
Het |
Bpifa6 |
A |
T |
2: 153,831,196 (GRCm39) |
E254V |
probably damaging |
Het |
Carns1 |
T |
A |
19: 4,216,431 (GRCm39) |
N584Y |
possibly damaging |
Het |
Col6a5 |
G |
A |
9: 105,788,306 (GRCm39) |
R1565* |
probably null |
Het |
Fbxo43 |
T |
A |
15: 36,162,842 (GRCm39) |
I122L |
probably benign |
Het |
Fibp |
A |
G |
19: 5,513,264 (GRCm39) |
Y193C |
probably damaging |
Het |
Gm10923 |
A |
G |
15: 85,001,132 (GRCm39) |
|
probably benign |
Het |
Il12rb2 |
A |
G |
6: 67,285,940 (GRCm39) |
|
probably null |
Het |
Jakmip2 |
T |
C |
18: 43,700,223 (GRCm39) |
E445G |
possibly damaging |
Het |
Krcc1 |
G |
A |
6: 71,261,405 (GRCm39) |
D146N |
probably benign |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Map2k5 |
A |
T |
9: 63,284,411 (GRCm39) |
D43E |
probably benign |
Het |
Nup155 |
A |
G |
15: 8,172,486 (GRCm39) |
K824R |
probably benign |
Het |
Or2o1 |
T |
C |
11: 49,050,921 (GRCm39) |
S27P |
probably benign |
Het |
Or51g2 |
T |
C |
7: 102,622,951 (GRCm39) |
T83A |
possibly damaging |
Het |
Phkg1 |
G |
A |
5: 129,893,479 (GRCm39) |
R324W |
probably damaging |
Het |
Plcd1 |
G |
A |
9: 118,901,677 (GRCm39) |
L616F |
probably benign |
Het |
Rnf141 |
A |
T |
7: 110,424,494 (GRCm39) |
S122T |
probably benign |
Het |
Tap1 |
G |
A |
17: 34,412,963 (GRCm39) |
V593M |
probably benign |
Het |
Ticrr |
T |
C |
7: 79,325,076 (GRCm39) |
L534P |
probably damaging |
Het |
Ubr4 |
G |
T |
4: 139,186,414 (GRCm39) |
E640D |
possibly damaging |
Het |
Vmn1r169 |
A |
C |
7: 23,276,661 (GRCm39) |
I18L |
probably benign |
Het |
|
Other mutations in Cmklr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01447:Cmklr1
|
APN |
5 |
113,752,282 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02997:Cmklr1
|
APN |
5 |
113,752,701 (GRCm39) |
missense |
probably benign |
0.15 |
R0098:Cmklr1
|
UTSW |
5 |
113,752,531 (GRCm39) |
missense |
probably benign |
0.00 |
R0360:Cmklr1
|
UTSW |
5 |
113,752,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R0364:Cmklr1
|
UTSW |
5 |
113,752,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R1217:Cmklr1
|
UTSW |
5 |
113,752,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R1702:Cmklr1
|
UTSW |
5 |
113,751,903 (GRCm39) |
missense |
probably benign |
0.20 |
R1862:Cmklr1
|
UTSW |
5 |
113,752,468 (GRCm39) |
missense |
probably damaging |
0.96 |
R4131:Cmklr1
|
UTSW |
5 |
113,752,545 (GRCm39) |
missense |
probably damaging |
0.97 |
R4132:Cmklr1
|
UTSW |
5 |
113,752,545 (GRCm39) |
missense |
probably damaging |
0.97 |
R4611:Cmklr1
|
UTSW |
5 |
113,752,930 (GRCm39) |
missense |
probably benign |
0.05 |
R4647:Cmklr1
|
UTSW |
5 |
113,752,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R5217:Cmklr1
|
UTSW |
5 |
113,752,710 (GRCm39) |
missense |
probably damaging |
0.98 |
R5484:Cmklr1
|
UTSW |
5 |
113,752,990 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5486:Cmklr1
|
UTSW |
5 |
113,752,990 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5487:Cmklr1
|
UTSW |
5 |
113,752,990 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5504:Cmklr1
|
UTSW |
5 |
113,752,990 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5505:Cmklr1
|
UTSW |
5 |
113,752,990 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6301:Cmklr1
|
UTSW |
5 |
113,752,999 (GRCm39) |
start codon destroyed |
possibly damaging |
0.72 |
R6994:Cmklr1
|
UTSW |
5 |
113,752,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R7342:Cmklr1
|
UTSW |
5 |
113,752,354 (GRCm39) |
missense |
probably benign |
0.00 |
R9034:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9041:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9100:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9101:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9109:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9110:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9111:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9137:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9250:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9298:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9299:Cmklr1
|
UTSW |
5 |
113,752,043 (GRCm39) |
missense |
probably benign |
|
R9516:Cmklr1
|
UTSW |
5 |
113,752,341 (GRCm39) |
missense |
probably benign |
0.17 |
R9521:Cmklr1
|
UTSW |
5 |
113,752,480 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Cmklr1
|
UTSW |
5 |
113,751,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |