Incidental Mutation 'R5486:Cmklr1'
| ID |
501055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cmklr1
|
| Ensembl Gene |
ENSMUSG00000042190 |
| Gene Name |
chemerin chemokine-like receptor 1 |
| Synonyms |
ChemR23, Gpcr27 |
| MMRRC Submission |
043047-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
R5486 (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 G
at 113752990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Histidine
at position 4
(D4H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047936]
[ENSMUST00000132065]
[ENSMUST00000142854]
|
| AlphaFold |
P97468 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047936
AA Change: D4H
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000036316
Gene: ENSMUSG00000042190
AA Change: D4H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
314 |
2.6e-41 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132065
AA Change: D4H
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121765
Gene: ENSMUSG00000042190
AA Change: D4H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
55 |
301 |
5e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142854
AA Change: D4H
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.4%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,910,791 (GRCm39) |
M1K |
probably null |
Het |
| Adam12 |
C |
A |
7: 133,509,401 (GRCm39) |
R786S |
possibly damaging |
Het |
| Add3 |
G |
A |
19: 53,232,818 (GRCm39) |
V604I |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,427,425 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
C |
2: 110,576,215 (GRCm39) |
D102G |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,964,524 (GRCm39) |
D2693E |
possibly damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,711,884 (GRCm39) |
N284D |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,326,740 (GRCm39) |
|
probably null |
Het |
| Cln5 |
T |
C |
14: 103,313,630 (GRCm39) |
I294T |
probably damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,779 (GRCm39) |
W43R |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Erlec1 |
A |
T |
11: 30,885,047 (GRCm39) |
H413Q |
probably damaging |
Het |
| Fam168a |
T |
A |
7: 100,483,376 (GRCm39) |
M203K |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,144,507 (GRCm39) |
S4122R |
probably benign |
Het |
| Fgd4 |
A |
T |
16: 16,292,901 (GRCm39) |
L272Q |
probably damaging |
Het |
| Hpcal4 |
A |
G |
4: 123,084,557 (GRCm39) |
K162R |
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,863,049 (GRCm39) |
|
probably null |
Het |
| Lbr |
A |
G |
1: 181,646,403 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,267,809 (GRCm39) |
I4259V |
probably benign |
Het |
| Mcm3 |
C |
T |
1: 20,885,118 (GRCm39) |
G189S |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,206,860 (GRCm38) |
V137A |
possibly damaging |
Het |
| Or52d1 |
C |
A |
7: 103,755,705 (GRCm39) |
T73N |
probably damaging |
Het |
| Or52n3 |
T |
A |
7: 104,530,168 (GRCm39) |
C85S |
probably benign |
Het |
| Or7g33 |
A |
G |
9: 19,448,590 (GRCm39) |
V212A |
probably benign |
Het |
| Pim3 |
T |
C |
15: 88,747,425 (GRCm39) |
V97A |
possibly damaging |
Het |
| Piwil2 |
T |
C |
14: 70,638,880 (GRCm39) |
N479S |
probably benign |
Het |
| Pld3 |
C |
A |
7: 27,233,156 (GRCm39) |
W365L |
probably damaging |
Het |
| Plk3 |
C |
A |
4: 116,987,600 (GRCm39) |
E412* |
probably null |
Het |
| Psmd1 |
A |
G |
1: 86,064,772 (GRCm39) |
I935V |
possibly damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,260,944 (GRCm39) |
S91P |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,946,395 (GRCm39) |
N39S |
unknown |
Het |
| Slc22a22 |
A |
G |
15: 57,126,847 (GRCm39) |
V55A |
probably damaging |
Het |
| Smg7 |
A |
G |
1: 152,721,927 (GRCm39) |
S595P |
probably damaging |
Het |
| Snrnp200 |
C |
T |
2: 127,074,986 (GRCm39) |
P1520S |
possibly damaging |
Het |
| Taar7a |
T |
A |
10: 23,868,356 (GRCm39) |
T342S |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,899,449 (GRCm39) |
I606F |
probably benign |
Het |
| Tex19.2 |
A |
T |
11: 121,008,304 (GRCm39) |
M48K |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,992,204 (GRCm39) |
T511A |
probably benign |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
C |
A |
15: 38,008,983 (GRCm39) |
A1077S |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,519,795 (GRCm39) |
R571* |
probably null |
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 |
|
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'- TGGCGATGACAATCACCAGG -3'
(R):5'- AGAGACCCAGTCTTCTCTGAC -3'
Sequencing Primer
(F):5'- GATGACAATCACCAGGCCGTTG -3'
(R):5'- CTTGCCTACATGAGCATATGTACACG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation