Incidental Mutation 'R9111:Cmklr1'
ID |
692245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cmklr1
|
Ensembl Gene |
ENSMUSG00000042190 |
Gene Name |
chemerin chemokine-like receptor 1 |
Synonyms |
ChemR23, Gpcr27 |
MMRRC Submission |
068971-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.258)
|
Stock # |
R9111 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
113750415-113788487 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 113752043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 319
(H319Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047936]
[ENSMUST00000132065]
[ENSMUST00000142854]
|
AlphaFold |
P97468 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047936
AA Change: H319Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036316 Gene: ENSMUSG00000042190 AA Change: H319Q
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
55 |
314 |
2.6e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132065
|
SMART Domains |
Protein: ENSMUSP00000121765 Gene: ENSMUSG00000042190
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
55 |
301 |
5e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142854
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (47/47) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
T |
C |
8: 124,696,646 (GRCm39) |
N210S |
|
Het |
Adamts17 |
A |
G |
7: 66,489,648 (GRCm39) |
D22G |
probably damaging |
Het |
Aldh3b1 |
T |
C |
19: 3,971,797 (GRCm39) |
E58G |
probably damaging |
Het |
Atg2a |
G |
A |
19: 6,311,534 (GRCm39) |
A1830T |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,966,340 (GRCm39) |
V4118A |
probably damaging |
Het |
Ccdc28a |
G |
A |
10: 18,100,750 (GRCm39) |
P73S |
possibly damaging |
Het |
Cdc42bpb |
A |
T |
12: 111,284,903 (GRCm39) |
D771E |
probably benign |
Het |
Cdk14 |
G |
A |
5: 5,315,985 (GRCm39) |
P13S |
possibly damaging |
Het |
Cdr2 |
G |
A |
7: 120,559,345 (GRCm39) |
S158F |
possibly damaging |
Het |
Cfap44 |
A |
T |
16: 44,252,326 (GRCm39) |
T812S |
probably benign |
Het |
Cp |
A |
T |
3: 20,027,949 (GRCm39) |
I452F |
probably damaging |
Het |
Dcdc2c |
T |
A |
12: 28,585,488 (GRCm39) |
I2F |
probably damaging |
Het |
Dlat |
G |
A |
9: 50,570,906 (GRCm39) |
|
probably benign |
Het |
Dock1 |
A |
G |
7: 134,601,017 (GRCm39) |
D984G |
possibly damaging |
Het |
Dsc2 |
T |
C |
18: 20,167,764 (GRCm39) |
I710V |
probably benign |
Het |
Eif4e |
A |
G |
3: 138,252,122 (GRCm39) |
E20G |
probably benign |
Het |
Fbxw16 |
T |
C |
9: 109,265,679 (GRCm39) |
Y380C |
probably damaging |
Het |
Fscn3 |
A |
G |
6: 28,430,310 (GRCm39) |
D160G |
probably damaging |
Het |
Gm9195 |
G |
A |
14: 72,694,123 (GRCm39) |
Q1531* |
probably null |
Het |
Hps3 |
T |
C |
3: 20,084,575 (GRCm39) |
|
probably null |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Igsf1 |
C |
T |
X: 48,875,736 (GRCm39) |
E755K |
probably null |
Het |
Kalrn |
A |
G |
16: 34,181,371 (GRCm39) |
V89A |
probably damaging |
Het |
Kcng1 |
C |
A |
2: 168,104,535 (GRCm39) |
G437V |
probably damaging |
Het |
Krt82 |
C |
T |
15: 101,451,786 (GRCm39) |
R343Q |
probably benign |
Het |
Lbr |
T |
C |
1: 181,645,068 (GRCm39) |
D528G |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,406,819 (GRCm39) |
E256G |
probably damaging |
Het |
Mier2 |
T |
C |
10: 79,381,285 (GRCm39) |
|
probably benign |
Het |
Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
Myrf |
A |
G |
19: 10,191,421 (GRCm39) |
|
probably null |
Het |
Ncor1 |
T |
A |
11: 62,280,585 (GRCm39) |
T82S |
possibly damaging |
Het |
Or4c107 |
G |
A |
2: 88,789,055 (GRCm39) |
V82I |
probably benign |
Het |
P2rx6 |
G |
T |
16: 17,385,627 (GRCm39) |
W176L |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,454,657 (GRCm39) |
E108G |
probably damaging |
Het |
Pik3c2a |
A |
G |
7: 115,993,531 (GRCm39) |
V412A |
probably damaging |
Het |
Prkd2 |
A |
G |
7: 16,584,131 (GRCm39) |
E328G |
probably benign |
Het |
Prmt1 |
A |
C |
7: 44,631,169 (GRCm39) |
V114G |
probably damaging |
Het |
Rnf133 |
G |
A |
6: 23,648,928 (GRCm39) |
H334Y |
probably benign |
Het |
Rps18-ps5 |
T |
A |
13: 28,441,626 (GRCm39) |
L3Q |
probably damaging |
Het |
Secisbp2l |
A |
G |
2: 125,602,206 (GRCm39) |
S385P |
probably benign |
Het |
Sel1l3 |
A |
T |
5: 53,279,213 (GRCm39) |
|
probably benign |
Het |
Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
Sfpq |
CCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGC |
4: 126,915,401 (GRCm39) |
|
probably benign |
Het |
Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
Slc5a4b |
A |
T |
10: 75,925,827 (GRCm39) |
|
probably benign |
Het |
Slc9a3 |
A |
G |
13: 74,298,920 (GRCm39) |
Y113C |
probably damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,306,333 (GRCm39) |
F161L |
possibly damaging |
Het |
Zhx2 |
T |
C |
15: 57,685,984 (GRCm39) |
I451T |
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 |
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 |
|
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'- ATTCCCAGGTGAGGTTCAGAG -3'
(R):5'- ATCGTCTTCAAGCTGCAGC -3'
Sequencing Primer
(F):5'- CAGAGGGTACTGGTCTCCTTC -3'
(R):5'- GAAGCCCTTCAAGATCATTATCAC -3'
|
Posted On |
2021-12-30 |