Incidental Mutation 'R1217:Cmklr1'
ID |
99727 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmklr1
|
Ensembl Gene |
ENSMUSG00000042190 |
Gene Name |
chemerin chemokine-like receptor 1 |
Synonyms |
ChemR23, Gpcr27 |
MMRRC Submission |
039286-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.258)
|
Stock # |
R1217 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
113750415-113788487 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 113752107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 298
(L298Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047936]
[ENSMUST00000132065]
[ENSMUST00000142854]
|
AlphaFold |
P97468 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047936
AA Change: L298Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036316 Gene: ENSMUSG00000042190 AA Change: L298Q
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
55 |
314 |
2.6e-41 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132065
AA Change: L298Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121765 Gene: ENSMUSG00000042190 AA Change: L298Q
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
55 |
301 |
5e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142854
|
Meta Mutation Damage Score |
0.7156 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.6%
|
Validation Efficiency |
100% (45/45) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adora2a |
A |
T |
10: 75,169,049 (GRCm39) |
Y171F |
probably damaging |
Het |
Agpat4 |
C |
T |
17: 12,429,203 (GRCm39) |
R152W |
probably damaging |
Het |
Aldh1a2 |
A |
G |
9: 71,188,964 (GRCm39) |
N293D |
possibly damaging |
Het |
Ash2l |
T |
C |
8: 26,312,913 (GRCm39) |
N441S |
probably damaging |
Het |
Asrgl1 |
A |
T |
19: 9,093,864 (GRCm39) |
|
probably null |
Het |
Capn3 |
C |
A |
2: 120,316,902 (GRCm39) |
S277* |
probably null |
Het |
Ccdc168 |
A |
T |
1: 44,096,339 (GRCm39) |
S1586R |
possibly damaging |
Het |
Ccp110 |
T |
C |
7: 118,329,167 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,799,676 (GRCm39) |
V491A |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,707,339 (GRCm39) |
S362P |
probably damaging |
Het |
Cfap57 |
A |
G |
4: 118,463,849 (GRCm39) |
S335P |
possibly damaging |
Het |
Col4a4 |
A |
T |
1: 82,466,730 (GRCm39) |
|
probably null |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Cyp2d26 |
A |
G |
15: 82,677,068 (GRCm39) |
|
probably benign |
Het |
Cyth3 |
T |
C |
5: 143,688,575 (GRCm39) |
Y240H |
probably damaging |
Het |
Dhx9 |
G |
A |
1: 153,334,109 (GRCm39) |
T1017I |
probably damaging |
Het |
Edar |
T |
C |
10: 58,464,453 (GRCm39) |
Y62C |
probably damaging |
Het |
Esyt3 |
C |
T |
9: 99,200,097 (GRCm39) |
G699D |
possibly damaging |
Het |
Fgb |
T |
C |
3: 82,950,564 (GRCm39) |
T397A |
probably damaging |
Het |
Foxc1 |
C |
A |
13: 31,992,668 (GRCm39) |
A493E |
unknown |
Het |
Grid1 |
T |
C |
14: 34,542,186 (GRCm39) |
M1T |
probably null |
Het |
Ipo4 |
T |
C |
14: 55,871,816 (GRCm39) |
K113R |
probably damaging |
Het |
Kif21b |
A |
G |
1: 136,080,114 (GRCm39) |
E550G |
probably damaging |
Het |
Krt1 |
T |
C |
15: 101,757,416 (GRCm39) |
K265E |
possibly damaging |
Het |
Lmx1a |
G |
A |
1: 167,618,968 (GRCm39) |
R109H |
probably damaging |
Het |
Mcm5 |
A |
G |
8: 75,852,919 (GRCm39) |
K677R |
probably benign |
Het |
Metap1 |
A |
T |
3: 138,180,791 (GRCm39) |
L130* |
probably null |
Het |
Mrgpra4 |
A |
G |
7: 47,631,085 (GRCm39) |
L172P |
probably benign |
Het |
Mylip |
G |
A |
13: 45,560,178 (GRCm39) |
E205K |
probably damaging |
Het |
Myo3b |
A |
C |
2: 70,161,224 (GRCm39) |
E1128A |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Nlrp4d |
T |
C |
7: 10,098,194 (GRCm39) |
I823V |
probably benign |
Het |
Odad1 |
C |
T |
7: 45,592,182 (GRCm39) |
|
probably benign |
Het |
Rec114 |
A |
T |
9: 58,573,103 (GRCm39) |
|
probably benign |
Het |
Rimbp2 |
C |
T |
5: 128,865,351 (GRCm39) |
A666T |
probably benign |
Het |
Siva1 |
C |
T |
12: 112,613,355 (GRCm39) |
Q68* |
probably null |
Het |
Slc22a27 |
T |
A |
19: 7,904,033 (GRCm39) |
I35F |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,200,100 (GRCm39) |
N228I |
probably damaging |
Het |
St8sia4 |
G |
A |
1: 95,581,464 (GRCm39) |
R93C |
probably damaging |
Het |
Tprg1 |
T |
C |
16: 25,231,593 (GRCm39) |
S190P |
probably damaging |
Het |
Trpc6 |
A |
G |
9: 8,658,287 (GRCm39) |
|
probably null |
Het |
Vmn2r70 |
C |
T |
7: 85,208,269 (GRCm39) |
C736Y |
probably damaging |
Het |
Zfp629 |
C |
T |
7: 127,211,916 (GRCm39) |
|
probably benign |
Het |
Zswim4 |
A |
G |
8: 84,946,601 (GRCm39) |
V685A |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCGAAGCCTTCTCATTCAAAGACG -3'
(R):5'- GTTTCCACAGGGTACAGCAGACAC -3'
Sequencing Primer
(F):5'- ACGACATCTTGGTGAAGCTC -3'
(R):5'- ATCATCACGGCCTGCTAC -3'
|
Posted On |
2014-01-15 |