Incidental Mutation 'R6933:Ccr2'
| ID |
540164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr2
|
| Ensembl Gene |
ENSMUSG00000049103 |
| Gene Name |
C-C motif chemokine receptor 2 |
| Synonyms |
CKR2B, CC-CKR-2, Cmkbr2, CCR2A, CCR2B, CKR2, CKR2A |
| MMRRC Submission |
045048-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6933 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
123901987-123913594 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 123906161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 147
(L147R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055918]
[ENSMUST00000165984]
[ENSMUST00000168841]
[ENSMUST00000171719]
|
| AlphaFold |
P51683 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055918
AA Change: L147R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049909
Gene: ENSMUSG00000049103
AA Change: L147R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
66 |
332 |
4.8e-8 |
PFAM |
|
Pfam:7tm_1
|
72 |
318 |
1.5e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165984
AA Change: L147R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128734
Gene: ENSMUSG00000049103
AA Change: L147R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
66 |
332 |
4.8e-8 |
PFAM |
|
Pfam:7tm_1
|
72 |
318 |
2.9e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168841
AA Change: L147R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132453
Gene: ENSMUSG00000049103
AA Change: L147R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
66 |
332 |
4.8e-8 |
PFAM |
|
Pfam:7tm_1
|
72 |
318 |
2.9e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171719
AA Change: L147R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130112
Gene: ENSMUSG00000049103
AA Change: L147R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
66 |
332 |
4.8e-8 |
PFAM |
|
Pfam:7tm_1
|
72 |
318 |
2.9e-59 |
PFAM |
|
| Meta Mutation Damage Score |
0.9068 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.7%
|
| Validation Efficiency |
93% (41/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The receptors encoded by this gene mediate agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene cluster region. Two alternatively spliced transcript variants are expressed by the gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in leukocyte physiology that result in altered response to myocardial infarction and increased susceptibility to bacterial infection and colitis. Mice may also exhibit retinal degeneration and alcohol aversion depending on the knock-out allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
T |
10: 69,740,042 (GRCm39) |
K814N |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 89,905,352 (GRCm39) |
H231R |
probably damaging |
Het |
| Anks6 |
A |
G |
4: 47,049,164 (GRCm39) |
V247A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,797,728 (GRCm39) |
N568D |
possibly damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,855,373 (GRCm39) |
T366A |
probably benign |
Het |
| Cdc40 |
A |
G |
10: 40,720,992 (GRCm39) |
V318A |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,792,970 (GRCm39) |
|
probably null |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Clk3 |
A |
T |
9: 57,669,132 (GRCm39) |
Y31N |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,644 (GRCm39) |
Y1148C |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,311,175 (GRCm39) |
V927A |
probably benign |
Het |
| Dync1i1 |
A |
C |
6: 5,913,333 (GRCm39) |
T217P |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,667,153 (GRCm39) |
V68A |
probably damaging |
Het |
| Ep400 |
C |
A |
5: 110,813,728 (GRCm39) |
K2890N |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,374,897 (GRCm39) |
I481V |
probably benign |
Het |
| Fam83e |
A |
G |
7: 45,371,818 (GRCm39) |
T72A |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,425,418 (GRCm39) |
M59K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,030,131 (GRCm39) |
K1089R |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,703,249 (GRCm39) |
E52V |
probably damaging |
Het |
| Myom1 |
C |
A |
17: 71,359,666 (GRCm39) |
T446K |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,631,031 (GRCm39) |
F2199I |
possibly damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,199,437 (GRCm39) |
L438Q |
probably damaging |
Het |
| Or52n2c |
A |
G |
7: 104,574,330 (GRCm39) |
C214R |
probably benign |
Het |
| Pet117 |
T |
A |
2: 144,211,019 (GRCm39) |
V13E |
possibly damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,330,210 (GRCm39) |
E254G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,627,003 (GRCm39) |
E1485G |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,700,878 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,993,266 (GRCm39) |
Y889N |
probably damaging |
Het |
| Sbf1 |
G |
A |
15: 89,184,572 (GRCm39) |
R1115C |
probably damaging |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,645,515 (GRCm39) |
T366S |
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,489,163 (GRCm39) |
I241V |
probably benign |
Het |
| Sox11 |
G |
T |
12: 27,391,493 (GRCm39) |
S305R |
probably damaging |
Het |
| Sox21 |
T |
C |
14: 118,472,725 (GRCm39) |
H108R |
possibly damaging |
Het |
| Taok1 |
A |
T |
11: 77,446,479 (GRCm39) |
S417T |
probably benign |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Traf3 |
T |
C |
12: 111,221,658 (GRCm39) |
V273A |
possibly damaging |
Het |
| Tspyl3 |
T |
C |
2: 153,067,203 (GRCm39) |
T12A |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,126 (GRCm39) |
I830N |
probably damaging |
Het |
| Vps26b |
A |
T |
9: 26,926,613 (GRCm39) |
F129I |
possibly damaging |
Het |
| Washc3 |
A |
G |
10: 88,037,714 (GRCm39) |
N24S |
probably damaging |
Het |
| Xirp2 |
C |
A |
2: 67,345,201 (GRCm39) |
Q2481K |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,478,047 (GRCm39) |
V3554A |
probably damaging |
Het |
|
| Other mutations in Ccr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01816:Ccr2
|
APN |
9 |
123,906,235 (GRCm39) |
missense |
probably benign |
|
|
IGL02678:Ccr2
|
APN |
9 |
123,906,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02962:Ccr2
|
APN |
9 |
123,905,712 (GRCm39) |
splice site |
probably benign |
|
|
IGL03330:Ccr2
|
APN |
9 |
123,905,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03381:Ccr2
|
APN |
9 |
123,906,409 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0499:Ccr2
|
UTSW |
9 |
123,906,163 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0499:Ccr2
|
UTSW |
9 |
123,905,976 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0602:Ccr2
|
UTSW |
9 |
123,906,658 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0714:Ccr2
|
UTSW |
9 |
123,905,966 (GRCm39) |
missense |
probably benign |
|
|
R1975:Ccr2
|
UTSW |
9 |
123,906,830 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4785:Ccr2
|
UTSW |
9 |
123,906,409 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5858:Ccr2
|
UTSW |
9 |
123,906,464 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5901:Ccr2
|
UTSW |
9 |
123,906,239 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6179:Ccr2
|
UTSW |
9 |
123,906,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Ccr2
|
UTSW |
9 |
123,906,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Ccr2
|
UTSW |
9 |
123,906,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7575:Ccr2
|
UTSW |
9 |
123,905,843 (GRCm39) |
missense |
probably benign |
|
|
R8743:Ccr2
|
UTSW |
9 |
123,906,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8746:Ccr2
|
UTSW |
9 |
123,906,448 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9215:Ccr2
|
UTSW |
9 |
123,906,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Ccr2
|
UTSW |
9 |
123,906,104 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9682:Ccr2
|
UTSW |
9 |
123,906,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0026:Ccr2
|
UTSW |
9 |
123,905,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGGAGCTTGGATCCTGCC -3'
(R):5'- GCCACAGGTGTAATGGTGATC -3'
Sequencing Primer
(F):5'- GAAGAGCATGACTGATATCTATCTGC -3'
(R):5'- CCACAGGTGTAATGGTGATCATCTTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation