Incidental Mutation 'R3743:Ccr7'
| ID |
270461 |
| 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 |
040729-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.314)
|
| Stock # |
R3743 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99035025-99045903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 99036033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 296
(S296R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103134]
|
| AlphaFold |
P47774 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103134
AA Change: S296R
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099423
Gene: ENSMUSG00000037944
AA Change: S296R
| 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 |
0.2064 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
G |
4: 137,182,348 (GRCm39) |
R168G |
probably damaging |
Het |
| 1700030K09Rik |
A |
G |
8: 73,199,013 (GRCm39) |
H140R |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,747,686 (GRCm39) |
I41V |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,382,016 (GRCm39) |
V198A |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 44,998,591 (GRCm39) |
|
probably null |
Het |
| Atmin |
T |
C |
8: 117,683,312 (GRCm39) |
V324A |
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,914,843 (GRCm39) |
R464C |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,537,745 (GRCm39) |
S415R |
probably damaging |
Het |
| Cep162 |
A |
T |
9: 87,099,230 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
G |
A |
11: 69,254,876 (GRCm39) |
R61* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,832,274 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,247,846 (GRCm39) |
S305P |
probably benign |
Het |
| Cyp4a31 |
A |
C |
4: 115,423,716 (GRCm39) |
Q140P |
possibly damaging |
Het |
| Dhx40 |
A |
T |
11: 86,661,985 (GRCm39) |
W691R |
probably damaging |
Het |
| Dlgap1 |
G |
A |
17: 71,025,221 (GRCm39) |
|
probably null |
Het |
| Entr1 |
A |
G |
2: 26,278,655 (GRCm39) |
|
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,251,806 (GRCm39) |
I582V |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,270,864 (GRCm39) |
L387* |
probably null |
Het |
| Fbxw8 |
A |
G |
5: 118,251,704 (GRCm39) |
S270P |
probably damaging |
Het |
| Fgf14 |
C |
A |
14: 124,914,032 (GRCm39) |
G33V |
probably benign |
Het |
| Hoxd9 |
T |
A |
2: 74,528,710 (GRCm39) |
V104E |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,546 (GRCm39) |
H1729R |
possibly damaging |
Het |
| Irf8 |
C |
T |
8: 121,480,310 (GRCm39) |
R274C |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,894,496 (GRCm39) |
M1350I |
probably damaging |
Het |
| Lrrn4 |
A |
G |
2: 132,711,786 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
C |
T |
4: 132,972,384 (GRCm39) |
T320I |
probably benign |
Het |
| Morc2a |
A |
G |
11: 3,633,700 (GRCm39) |
E604G |
possibly damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,537,747 (GRCm39) |
I582T |
probably benign |
Het |
| Ninl |
A |
G |
2: 150,792,168 (GRCm39) |
V785A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,969,911 (GRCm39) |
E77G |
probably damaging |
Het |
| Or2b11 |
T |
C |
11: 59,462,335 (GRCm39) |
Y77C |
probably damaging |
Het |
| Or2n1 |
T |
G |
17: 38,486,793 (GRCm39) |
F273V |
probably damaging |
Het |
| Or4f61 |
A |
G |
2: 111,922,965 (GRCm39) |
L27P |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,470 (GRCm39) |
D124G |
probably damaging |
Het |
| Pfkl |
G |
A |
10: 77,832,179 (GRCm39) |
T304M |
probably damaging |
Het |
| Ppil4 |
T |
A |
10: 7,696,935 (GRCm39) |
S483T |
unknown |
Het |
| Slc7a10 |
C |
T |
7: 34,898,325 (GRCm39) |
T332I |
probably damaging |
Het |
| Spats2 |
T |
C |
15: 99,108,795 (GRCm39) |
S382P |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,242,197 (GRCm39) |
D70E |
probably benign |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,145,128 (GRCm39) |
D430V |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,839,712 (GRCm39) |
Y175C |
probably damaging |
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 |
|
R1115:Ccr7
|
UTSW |
11 |
99,036,103 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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'- ACCACATTAAGGCTCCTGGG -3'
(R):5'- CTGGCTATGAGTTTCTGCTACC -3'
Sequencing Primer
(F):5'- CATTAAGGCTCCTGGGAGAGGTC -3'
(R):5'- GAGTTTCTGCTACCTCATTATCATC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation