Incidental Mutation 'R4131:Cmklr1'
| ID |
314670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmklr1
|
| Ensembl Gene |
ENSMUSG00000042190 |
| Gene Name |
chemerin chemokine-like receptor 1 |
| Synonyms |
ChemR23, Gpcr27 |
| MMRRC Submission |
040994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R4131 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,359,030 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Art3 |
A |
T |
5: 92,540,421 (GRCm39) |
M55L |
probably benign |
Het |
| C1d |
C |
T |
11: 17,214,054 (GRCm39) |
|
probably benign |
Het |
| Ces1c |
A |
G |
8: 93,827,312 (GRCm39) |
M484T |
probably damaging |
Het |
| Cisd3 |
T |
C |
11: 97,579,257 (GRCm39) |
V133A |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,223,937 (GRCm39) |
I230V |
possibly damaging |
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 |
| Igha |
C |
A |
12: 113,222,449 (GRCm39) |
|
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Klk1b3 |
T |
A |
7: 43,851,111 (GRCm39) |
N181K |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,205,180 (GRCm39) |
R220S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,917,170 (GRCm39) |
V2252I |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,313,607 (GRCm39) |
C17Y |
probably damaging |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,744 (GRCm39) |
S2* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,959,170 (GRCm39) |
Y217* |
probably null |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,190,953 (GRCm39) |
Q141L |
probably damaging |
Het |
| Prelid2 |
T |
G |
18: 42,084,224 (GRCm39) |
D6A |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,006,422 (GRCm39) |
S263P |
probably damaging |
Het |
| Rassf6 |
C |
T |
5: 90,757,646 (GRCm39) |
D105N |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,757,328 (GRCm39) |
|
probably null |
Het |
| Sema4g |
T |
A |
19: 44,987,358 (GRCm39) |
F501L |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,874,791 (GRCm39) |
E537G |
probably null |
Het |
| Try4 |
T |
A |
6: 41,282,335 (GRCm39) |
Y218* |
probably null |
Het |
| Zbtb40 |
G |
T |
4: 136,722,707 (GRCm39) |
S790R |
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 |
|
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 |
|
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 |
|
| 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