Incidental Mutation 'R4132:Cmklr1'
| ID |
314701 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4132 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
113750415-113788487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 113752545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 152
(R152L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047936]
[ENSMUST00000132065]
[ENSMUST00000142854]
|
| AlphaFold |
P97468 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047936
AA Change: R152L
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036316
Gene: ENSMUSG00000042190
AA Change: R152L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
314 |
2.6e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132065
AA Change: R152L
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121765
Gene: ENSMUSG00000042190
AA Change: R152L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
301 |
5e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142854
|
| Meta Mutation Damage Score |
0.4712 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
T |
C |
1: 92,812,822 (GRCm39) |
M496V |
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,974,779 (GRCm39) |
I531L |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
| Icam5 |
T |
C |
9: 20,947,953 (GRCm39) |
I617T |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klhdc4 |
C |
T |
8: 122,524,804 (GRCm39) |
G375R |
possibly damaging |
Het |
| Myo5c |
G |
A |
9: 75,159,850 (GRCm39) |
V293I |
probably benign |
Het |
| Ncbp1 |
C |
T |
4: 46,169,241 (GRCm39) |
R672* |
probably null |
Het |
| Pcdhga2 |
T |
C |
18: 37,803,107 (GRCm39) |
I317T |
possibly damaging |
Het |
| Safb |
C |
A |
17: 56,907,848 (GRCm39) |
|
probably benign |
Het |
| Tspan5 |
C |
T |
3: 138,602,628 (GRCm39) |
R106* |
probably null |
Het |
| Ubap2l |
A |
G |
3: 89,916,491 (GRCm39) |
Y908H |
probably damaging |
Het |
| Uspl1 |
A |
G |
5: 149,141,159 (GRCm39) |
N372S |
probably damaging |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,819 (GRCm39) |
I156V |
probably benign |
Het |
| Zbtb8os |
A |
G |
4: 129,229,906 (GRCm39) |
Y24C |
probably damaging |
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 |
|
IGL02246:Cmklr1
|
APN |
5 |
113,752,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGAAACTACTTGCGAGTGG -3'
(R):5'- TTTGTCAACCTGGCTGTGGC -3'
Sequencing Primer
(F):5'- ACTTGCGAGTGGGCGGG -3'
(R):5'- GATGCACATCACCTACGCGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation