Incidental Mutation 'R0967:Ccrl2'
| ID |
83913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccrl2
|
| Ensembl Gene |
ENSMUSG00000043953 |
| Gene Name |
C-C motif chemokine receptor-like 2 |
| Synonyms |
L-CCR, 1810047I05Rik, Ackr5, CCR11, Cmkbr1l2 |
| MMRRC Submission |
039096-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0967 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110883902-110886586 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110884754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 248
(T248M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111888]
[ENSMUST00000195968]
[ENSMUST00000199839]
|
| AlphaFold |
O35457 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111888
AA Change: T248M
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107519
Gene: ENSMUSG00000043953
AA Change: T248M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
54 |
304 |
6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195968
|
| SMART Domains |
Protein: ENSMUSP00000143105
Gene: ENSMUSG00000043953
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
54 |
130 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197851
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199839
AA Change: T248M
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000143116
Gene: ENSMUSG00000043953
AA Change: T248M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
54 |
304 |
4.2e-31 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
T |
18: 59,105,812 (GRCm39) |
E736* |
probably null |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,032,604 (GRCm39) |
E269G |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,716,107 (GRCm39) |
S421P |
probably damaging |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Cplane2 |
T |
C |
4: 140,947,162 (GRCm39) |
M181T |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,721,227 (GRCm39) |
E1468G |
probably null |
Het |
| Cyc1 |
T |
C |
15: 76,229,848 (GRCm39) |
|
probably benign |
Het |
| Fli1 |
T |
A |
9: 32,372,745 (GRCm39) |
T98S |
probably benign |
Het |
| Gk2 |
T |
C |
5: 97,604,155 (GRCm39) |
S228G |
probably benign |
Het |
| Gse1 |
T |
A |
8: 121,297,594 (GRCm39) |
|
probably benign |
Het |
| Hgf |
T |
A |
5: 16,798,839 (GRCm39) |
|
probably benign |
Het |
| Hif1a |
G |
A |
12: 73,984,444 (GRCm39) |
V300I |
possibly damaging |
Het |
| Hsd17b4 |
C |
A |
18: 50,316,328 (GRCm39) |
H652N |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kif5c |
T |
A |
2: 49,588,128 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,921,750 (GRCm39) |
Y198C |
probably damaging |
Het |
| Lpcat2b |
T |
A |
5: 107,582,084 (GRCm39) |
M471K |
possibly damaging |
Het |
| Med21 |
A |
G |
6: 146,551,697 (GRCm39) |
E116G |
probably benign |
Het |
| Mos |
A |
G |
4: 3,870,932 (GRCm39) |
S295P |
probably benign |
Het |
| Ms4a15 |
A |
T |
19: 10,956,685 (GRCm39) |
V209E |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,798,484 (GRCm39) |
V804A |
probably benign |
Het |
| Or10ah1-ps1 |
A |
G |
5: 143,123,594 (GRCm39) |
M121T |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,143,996 (GRCm39) |
I86T |
probably damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,546 (GRCm39) |
T109S |
possibly damaging |
Het |
| Plagl1 |
T |
C |
10: 13,003,986 (GRCm39) |
|
probably benign |
Het |
| Prpf8 |
T |
A |
11: 75,385,256 (GRCm39) |
V797E |
probably damaging |
Het |
| Rars2 |
A |
G |
4: 34,646,587 (GRCm39) |
D284G |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,676 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,783,751 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,545,372 (GRCm39) |
M362K |
probably damaging |
Het |
| Rubcn |
C |
A |
16: 32,646,087 (GRCm39) |
E815D |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,527 (GRCm39) |
Y1577C |
probably damaging |
Het |
| Sec24b |
C |
T |
3: 129,790,431 (GRCm39) |
R698Q |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,947,342 (GRCm39) |
L1232* |
probably null |
Het |
| Usp7 |
A |
T |
16: 8,514,518 (GRCm39) |
|
probably benign |
Het |
| Vmn2r51 |
T |
G |
7: 9,834,012 (GRCm39) |
H342P |
probably damaging |
Het |
| Vmn2r70 |
A |
G |
7: 85,208,827 (GRCm39) |
M550T |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,857 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
T |
C |
14: 75,581,179 (GRCm39) |
I1722T |
possibly damaging |
Het |
|
| Other mutations in Ccrl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02382:Ccrl2
|
APN |
9 |
110,884,947 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02492:Ccrl2
|
APN |
9 |
110,884,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
octomom
|
UTSW |
9 |
110,885,055 (GRCm39) |
splice site |
probably null |
|
|
IGL03134:Ccrl2
|
UTSW |
9 |
110,884,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Ccrl2
|
UTSW |
9 |
110,885,279 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0924:Ccrl2
|
UTSW |
9 |
110,885,036 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2033:Ccrl2
|
UTSW |
9 |
110,884,938 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3720:Ccrl2
|
UTSW |
9 |
110,885,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3721:Ccrl2
|
UTSW |
9 |
110,885,432 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4244:Ccrl2
|
UTSW |
9 |
110,884,422 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5634:Ccrl2
|
UTSW |
9 |
110,885,055 (GRCm39) |
splice site |
probably null |
|
|
R7027:Ccrl2
|
UTSW |
9 |
110,884,953 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7060:Ccrl2
|
UTSW |
9 |
110,884,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Ccrl2
|
UTSW |
9 |
110,884,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATATCATTGCACCGTGGGAAC -3'
(R):5'- ACTTCTTGCCAATCGAAGCGCC -3'
Sequencing Primer
(F):5'- CTTCCGGTCAAGAAGCAAATAG -3'
(R):5'- CCGCTCTGGAAGTACGTTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation