Incidental Mutation 'R4107:Xcr1'
| ID |
321430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Xcr1
|
| Ensembl Gene |
ENSMUSG00000060509 |
| Gene Name |
chemokine (C motif) receptor 1 |
| Synonyms |
GPR5, C motif-1/lymphotactin receptor, Ccxcr1, XCR1 |
| MMRRC Submission |
040986-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123681380-123691094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123685153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 203
(I203T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084715]
[ENSMUST00000167595]
[ENSMUST00000182350]
[ENSMUST00000184082]
|
| AlphaFold |
Q9R0M1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084715
|
| SMART Domains |
Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RUN
|
19 |
167 |
4.7e-12 |
PFAM |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
coiled coil region
|
223 |
270 |
N/A |
INTRINSIC |
|
coiled coil region
|
348 |
1110 |
N/A |
INTRINSIC |
|
FYVE
|
1124 |
1191 |
2.69e-16 |
SMART |
|
PDB:1OLM|E
|
1343 |
1428 |
1e-5 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167595
|
| SMART Domains |
Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RUN
|
20 |
167 |
7.8e-12 |
PFAM |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
coiled coil region
|
223 |
270 |
N/A |
INTRINSIC |
|
coiled coil region
|
348 |
1110 |
N/A |
INTRINSIC |
|
FYVE
|
1124 |
1191 |
2.69e-16 |
SMART |
|
PDB:1OLM|E
|
1343 |
1428 |
1e-5 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182350
AA Change: I203T
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138255
Gene: ENSMUSG00000060509
AA Change: I203T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
59 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
60 |
295 |
1.9e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183700
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184082
|
| SMART Domains |
Protein: ENSMUSP00000139343
Gene: ENSMUSG00000025241
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RUN
|
7 |
167 |
4.5e-12 |
PFAM |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
coiled coil region
|
223 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
366 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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 chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains and numerous conserved amino acids. This receptor is most closely related to RBS11 and the MIP1-alpha/RANTES receptor. It transduces a signal by increasing the intracellular calcium ions level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit reduced CD8+ dendritic cell migration in response to XCL1. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
| Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Armc3 |
G |
A |
2: 19,293,720 (GRCm39) |
V504M |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,879,628 (GRCm39) |
L480P |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cox5b-ps |
T |
C |
13: 21,685,507 (GRCm39) |
T28A |
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Enc1 |
C |
A |
13: 97,381,646 (GRCm39) |
A52E |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,064,670 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
T |
G |
2: 79,475,175 (GRCm39) |
L378R |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,503,918 (GRCm39) |
S3797P |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,900,661 (GRCm39) |
I253N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mta3 |
A |
G |
17: 84,070,343 (GRCm39) |
D16G |
probably benign |
Het |
| Nlrp4f |
C |
A |
13: 65,330,879 (GRCm39) |
C838F |
probably benign |
Het |
| Or5aq7 |
T |
A |
2: 86,937,999 (GRCm39) |
H244L |
probably damaging |
Het |
| Pou4f3 |
A |
G |
18: 42,528,987 (GRCm39) |
K310R |
probably damaging |
Het |
| Reln |
C |
A |
5: 22,239,582 (GRCm39) |
C895F |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,542 (GRCm39) |
T353A |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,186,424 (GRCm39) |
L320P |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,753,139 (GRCm39) |
R210G |
probably benign |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Trim68 |
G |
T |
7: 102,327,658 (GRCm39) |
H432N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,569,485 (GRCm39) |
Q18809R |
probably damaging |
Het |
| Zfp407 |
T |
A |
18: 84,361,132 (GRCm39) |
T1721S |
possibly damaging |
Het |
|
| Other mutations in Xcr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03324:Xcr1
|
APN |
9 |
123,685,549 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0049:Xcr1
|
UTSW |
9 |
123,684,940 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0049:Xcr1
|
UTSW |
9 |
123,684,940 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0318:Xcr1
|
UTSW |
9 |
123,685,219 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0683:Xcr1
|
UTSW |
9 |
123,684,940 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4127:Xcr1
|
UTSW |
9 |
123,685,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Xcr1
|
UTSW |
9 |
123,685,712 (GRCm39) |
missense |
probably benign |
|
|
R5408:Xcr1
|
UTSW |
9 |
123,685,631 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5419:Xcr1
|
UTSW |
9 |
123,685,375 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5817:Xcr1
|
UTSW |
9 |
123,684,922 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6051:Xcr1
|
UTSW |
9 |
123,685,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6384:Xcr1
|
UTSW |
9 |
123,684,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Xcr1
|
UTSW |
9 |
123,684,854 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6528:Xcr1
|
UTSW |
9 |
123,685,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Xcr1
|
UTSW |
9 |
123,685,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6990:Xcr1
|
UTSW |
9 |
123,685,300 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7648:Xcr1
|
UTSW |
9 |
123,685,657 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9276:Xcr1
|
UTSW |
9 |
123,685,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCCAGTTGCTGAAGGC -3'
(R):5'- CTGTAGTGAGCCCCATCTCTAC -3'
Sequencing Primer
(F):5'- AGTTGCTGAAGGCTCTCACAG -3'
(R):5'- AGTGAGCCCCATCTCTACTCTGG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation