Incidental Mutation 'R4127:Xcr1'
| ID |
315446 |
| 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 |
040860-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4127 (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 C
at 123685561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 67
(V67G)
|
| 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 |
probably damaging
Transcript: ENSMUST00000182350
AA Change: V67G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138255
Gene: ENSMUSG00000060509
AA Change: V67G
| 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: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,141,973 (GRCm39) |
H3R |
probably benign |
Het |
| Actg2 |
A |
T |
6: 83,499,866 (GRCm39) |
F128Y |
possibly damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,822,241 (GRCm39) |
T176M |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,046,826 (GRCm39) |
D117G |
probably damaging |
Het |
| Cd209b |
A |
G |
8: 3,968,714 (GRCm39) |
I284T |
probably damaging |
Het |
| Cfl2 |
C |
T |
12: 54,908,143 (GRCm39) |
A123T |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,631,822 (GRCm39) |
T510A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,161,474 (GRCm39) |
I339V |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,886 (GRCm39) |
P539L |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,601,943 (GRCm39) |
H205N |
probably damaging |
Het |
| Gm5592 |
G |
A |
7: 40,938,491 (GRCm39) |
G591D |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,246,622 (GRCm39) |
C1562* |
probably null |
Het |
| Heatr3 |
T |
A |
8: 88,864,939 (GRCm39) |
C59S |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,060,603 (GRCm39) |
M2024T |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,477,285 (GRCm39) |
S502P |
probably damaging |
Het |
| Or5d36 |
A |
G |
2: 87,901,579 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,594 (GRCm39) |
D189V |
probably damaging |
Het |
| Pias3 |
G |
T |
3: 96,606,982 (GRCm39) |
G82C |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,105,285 (GRCm39) |
E753G |
probably damaging |
Het |
| Pus10 |
T |
C |
11: 23,668,654 (GRCm39) |
|
probably null |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,416 (GRCm39) |
Y909H |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,602,323 (GRCm39) |
V4520I |
possibly damaging |
Het |
| Scp2 |
A |
G |
4: 107,921,181 (GRCm39) |
F10L |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,035,598 (GRCm39) |
Y356H |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,210,597 (GRCm39) |
D756G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,058,501 (GRCm39) |
V454E |
probably damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,411,512 (GRCm39) |
N1108S |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tmem132d |
T |
C |
5: 128,345,884 (GRCm39) |
R213G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Zranb2 |
C |
A |
3: 157,243,227 (GRCm39) |
C74* |
probably null |
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 |
|
R4107:Xcr1
|
UTSW |
9 |
123,685,153 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
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'- AGACAGGTATCGGTGGATGGTC -3'
(R):5'- GATGCTCTCAGTATCCCTGC -3'
Sequencing Primer
(F):5'- AAGATGCTGCTGTAGAGGCTG -3'
(R):5'- AGTATCCCTGCATCCCGCG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation