Incidental Mutation 'IGL03324:Xcr1'
| ID |
416577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Xcr1
|
| Ensembl Gene |
ENSMUSG00000060509 |
| Gene Name |
chemokine (C motif) receptor 1 |
| Synonyms |
GPR5, C motif-1/lymphotactin receptor, Ccxcr1, XCR1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL03324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
123681380-123691094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123685549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 71
(Y71F)
|
| 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 benign
Transcript: ENSMUST00000182350
AA Change: Y71F
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000138255
Gene: ENSMUSG00000060509
AA Change: Y71F
| 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 |
|
| 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 |
|---|
| 1700018F24Rik |
A |
G |
5: 144,982,261 (GRCm39) |
E282G |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,353,167 (GRCm39) |
K758N |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,363,915 (GRCm39) |
R1459* |
probably null |
Het |
| Aco1 |
A |
G |
4: 40,186,363 (GRCm39) |
T592A |
probably benign |
Het |
| Aldh2 |
C |
T |
5: 121,713,188 (GRCm39) |
G256D |
probably benign |
Het |
| Apbb2 |
A |
T |
5: 66,469,500 (GRCm39) |
|
probably null |
Het |
| Apoe |
A |
T |
7: 19,430,462 (GRCm39) |
I260K |
probably benign |
Het |
| Cep89 |
G |
A |
7: 35,124,078 (GRCm39) |
|
probably benign |
Het |
| Coq3 |
A |
G |
4: 21,900,361 (GRCm39) |
D196G |
probably benign |
Het |
| Crispld2 |
C |
T |
8: 120,742,110 (GRCm39) |
R153W |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,852,925 (GRCm39) |
E397G |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,998,705 (GRCm39) |
Y342H |
probably damaging |
Het |
| Gpatch1 |
T |
A |
7: 34,993,120 (GRCm39) |
E575V |
possibly damaging |
Het |
| Grid2 |
T |
C |
6: 64,406,806 (GRCm39) |
V722A |
possibly damaging |
Het |
| Hsh2d |
T |
C |
8: 72,947,356 (GRCm39) |
F18L |
probably damaging |
Het |
| Htra2 |
C |
T |
6: 83,030,737 (GRCm39) |
D190N |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,377,915 (GRCm39) |
N332S |
probably damaging |
Het |
| Naa10 |
C |
T |
X: 72,963,568 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
T |
C |
13: 65,343,042 (GRCm39) |
E179G |
possibly damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,069 (GRCm39) |
F118L |
probably benign |
Het |
| Or14j1 |
G |
A |
17: 38,146,165 (GRCm39) |
G92S |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,843,903 (GRCm39) |
C168* |
probably null |
Het |
| Prss46 |
T |
A |
9: 110,678,747 (GRCm39) |
N46K |
probably benign |
Het |
| Rep15 |
A |
C |
6: 146,934,163 (GRCm39) |
M1L |
possibly damaging |
Het |
| Slc10a4 |
G |
T |
5: 73,169,286 (GRCm39) |
A105S |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,691,748 (GRCm39) |
T664S |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
| Tmf1 |
C |
A |
6: 97,140,614 (GRCm39) |
R754L |
probably damaging |
Het |
| Yars1 |
C |
T |
4: 129,104,328 (GRCm39) |
T324I |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,365,868 (GRCm39) |
S180P |
probably benign |
Het |
|
| Other mutations in Xcr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation