Incidental Mutation 'R1115:Ccr7'
| ID |
97192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr7
|
| Ensembl Gene |
ENSMUSG00000037944 |
| Gene Name |
C-C motif chemokine receptor 7 |
| Synonyms |
EBI1, CD197, Cmkbr7, Ebi1h |
| MMRRC Submission |
039188-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.314)
|
| Stock # |
R1115 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99035025-99045903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99036103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 273
(I273K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103134]
|
| AlphaFold |
P47774 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103134
AA Change: I273K
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099423
Gene: ENSMUSG00000037944
AA Change: I273K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
75 |
326 |
1.8e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.6427 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mice exhibit an impaired primary immune response. Dendritic cells, B, T and T regulatory cells show impaired migration to the lymph nodes and secondary lymph organs exhibit morphological abnormalities. Lymphocytic infiltrates to the pancreas, lung and stomach are observed in aged mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
A |
11: 100,370,081 (GRCm39) |
V994F |
probably damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,214,741 (GRCm39) |
T182A |
probably benign |
Het |
| Bcl2l14 |
T |
C |
6: 134,409,102 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,553,511 (GRCm39) |
M1183V |
possibly damaging |
Het |
| Cd40 |
A |
G |
2: 164,912,681 (GRCm39) |
M211V |
possibly damaging |
Het |
| Coro2b |
T |
G |
9: 62,338,609 (GRCm39) |
E208A |
probably damaging |
Het |
| Dennd5a |
A |
C |
7: 109,517,968 (GRCm39) |
M556R |
probably damaging |
Het |
| Efcab2 |
A |
T |
1: 178,265,062 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,787,114 (GRCm39) |
|
probably benign |
Het |
| Fbxw8 |
A |
C |
5: 118,215,636 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,629,802 (GRCm39) |
E263G |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,939,007 (GRCm39) |
D25G |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Ift52 |
A |
G |
2: 162,871,702 (GRCm39) |
K178R |
probably benign |
Het |
| Kit |
T |
C |
5: 75,810,192 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,137,859 (GRCm39) |
|
probably null |
Het |
| Mxra7 |
G |
T |
11: 116,701,696 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
C |
A |
2: 181,453,024 (GRCm39) |
S7* |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,180,803 (GRCm39) |
|
probably benign |
Het |
| Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
| Or1l8 |
C |
A |
2: 36,817,514 (GRCm39) |
G204V |
possibly damaging |
Het |
| Osgin2 |
A |
T |
4: 15,998,085 (GRCm39) |
D512E |
possibly damaging |
Het |
| Pde4b |
T |
A |
4: 102,399,352 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,666,841 (GRCm39) |
T146K |
possibly damaging |
Het |
| Ren1 |
T |
A |
1: 133,284,256 (GRCm39) |
V207D |
probably damaging |
Het |
| S100a8 |
A |
G |
3: 90,577,180 (GRCm39) |
D59G |
probably damaging |
Het |
| Sdcbp |
G |
A |
4: 6,377,143 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slamf7 |
A |
T |
1: 171,466,751 (GRCm39) |
D151E |
probably benign |
Het |
| Slco1b2 |
A |
G |
6: 141,628,980 (GRCm39) |
M561V |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,523,331 (GRCm39) |
I662T |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,632,028 (GRCm39) |
V20D |
unknown |
Het |
| Znhit6 |
G |
T |
3: 145,300,440 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ccr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01600:Ccr7
|
APN |
11 |
99,035,971 (GRCm39) |
missense |
probably benign |
0.45 |
|
Kongtong
|
UTSW |
11 |
99,036,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lanzhou
|
UTSW |
11 |
99,036,103 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
qinghai
|
UTSW |
11 |
99,036,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03047:Ccr7
|
UTSW |
11 |
99,036,160 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0707:Ccr7
|
UTSW |
11 |
99,036,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Ccr7
|
UTSW |
11 |
99,036,517 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2291:Ccr7
|
UTSW |
11 |
99,036,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3743:Ccr7
|
UTSW |
11 |
99,036,033 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4108:Ccr7
|
UTSW |
11 |
99,036,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Ccr7
|
UTSW |
11 |
99,035,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5402:Ccr7
|
UTSW |
11 |
99,036,560 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5602:Ccr7
|
UTSW |
11 |
99,036,315 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6275:Ccr7
|
UTSW |
11 |
99,036,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6991:Ccr7
|
UTSW |
11 |
99,036,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7470:Ccr7
|
UTSW |
11 |
99,036,383 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7549:Ccr7
|
UTSW |
11 |
99,036,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Ccr7
|
UTSW |
11 |
99,036,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9117:Ccr7
|
UTSW |
11 |
99,036,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9206:Ccr7
|
UTSW |
11 |
99,039,895 (GRCm39) |
missense |
probably benign |
|
|
R9631:Ccr7
|
UTSW |
11 |
99,036,616 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Ccr7
|
UTSW |
11 |
99,035,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGACGCCGATGAAGGCATAC -3'
(R):5'- CCTATGCATCAGCATTGACCGCTAC -3'
Sequencing Primer
(F):5'- CATACAAGAAAGGGTTGACGC -3'
(R):5'- ATCAGCAAGCTGTCCTGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation