Incidental Mutation 'R3748:Cx3cr1'
| ID |
309932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cx3cr1
|
| Ensembl Gene |
ENSMUSG00000052336 |
| Gene Name |
C-X3-C motif chemokine receptor 1 |
| Synonyms |
|
| MMRRC Submission |
040733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R3748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119877749-119897362 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119881132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 90
(H90R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064165]
[ENSMUST00000177637]
[ENSMUST00000215016]
|
| AlphaFold |
Q9Z0D9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064165
AA Change: H90R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000063986
Gene: ENSMUSG00000052336
AA Change: H90R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
49 |
294 |
8.3e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177637
AA Change: H90R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336
AA Change: H90R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
49 |
294 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215016
AA Change: H90R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.6492 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
PHENOTYPE: Age related retinal degeneration with abnormal subretinal microglial cell accumulation in one homozygous null mice. Other null mice shows impaired monocyte recruitment after vascular injury, kidney ischemia and reperfusion, and bacterial infection of the instestine. [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 |
|---|
| 2310003L06Rik |
A |
G |
5: 88,112,422 (GRCm39) |
|
probably benign |
Het |
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abca13 |
T |
C |
11: 9,266,119 (GRCm39) |
|
probably benign |
Het |
| Acaca |
A |
G |
11: 84,202,235 (GRCm39) |
|
probably null |
Het |
| Adam2 |
C |
T |
14: 66,297,361 (GRCm39) |
V182I |
probably benign |
Het |
| Adam26b |
A |
C |
8: 43,974,234 (GRCm39) |
V256G |
probably benign |
Het |
| Cfap68 |
A |
G |
9: 50,677,050 (GRCm39) |
C14R |
probably benign |
Het |
| Cfhr1 |
C |
A |
1: 139,485,372 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,276,849 (GRCm39) |
Y393N |
probably damaging |
Het |
| Cmss1 |
T |
C |
16: 57,122,635 (GRCm39) |
E253G |
probably damaging |
Het |
| Csmd1 |
T |
G |
8: 15,956,071 (GRCm39) |
N3379H |
probably damaging |
Het |
| Cyp4v3 |
G |
A |
8: 45,768,745 (GRCm39) |
R272* |
probably null |
Het |
| Daam1 |
C |
A |
12: 72,017,940 (GRCm39) |
D716E |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,003,148 (GRCm39) |
K3616* |
probably null |
Het |
| Fam221a |
A |
G |
6: 49,349,630 (GRCm39) |
D2G |
probably damaging |
Het |
| Golgb1 |
G |
C |
16: 36,739,274 (GRCm39) |
D2538H |
probably benign |
Het |
| Hoxc12 |
A |
G |
15: 102,846,813 (GRCm39) |
E235G |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,132 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,981,728 (GRCm39) |
W1513* |
probably null |
Het |
| Nrp1 |
T |
C |
8: 129,184,461 (GRCm39) |
W369R |
probably damaging |
Het |
| Nuf2 |
T |
A |
1: 169,352,945 (GRCm39) |
N20I |
probably damaging |
Het |
| Or13a19 |
T |
C |
7: 139,903,041 (GRCm39) |
L143P |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,705,278 (GRCm39) |
K219N |
probably damaging |
Het |
| Primpol |
A |
T |
8: 47,052,848 (GRCm39) |
D154E |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,733,442 (GRCm39) |
T149A |
probably benign |
Het |
| Tnip3 |
C |
T |
6: 65,591,747 (GRCm39) |
L249F |
probably damaging |
Het |
| Tpcn2 |
T |
C |
7: 144,809,260 (GRCm39) |
H682R |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,786,000 (GRCm39) |
N975K |
possibly damaging |
Het |
| Vmn1r39 |
T |
C |
6: 66,781,854 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,207,351 (GRCm39) |
I97V |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,676 (GRCm39) |
P1069S |
possibly damaging |
Het |
|
| Other mutations in Cx3cr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03339:Cx3cr1
|
APN |
9 |
119,880,503 (GRCm39) |
nonsense |
probably null |
|
|
R0507:Cx3cr1
|
UTSW |
9 |
119,881,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Cx3cr1
|
UTSW |
9 |
119,880,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2099:Cx3cr1
|
UTSW |
9 |
119,881,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2120:Cx3cr1
|
UTSW |
9 |
119,880,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Cx3cr1
|
UTSW |
9 |
119,881,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Cx3cr1
|
UTSW |
9 |
119,881,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3939:Cx3cr1
|
UTSW |
9 |
119,880,710 (GRCm39) |
missense |
probably benign |
|
|
R4629:Cx3cr1
|
UTSW |
9 |
119,880,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Cx3cr1
|
UTSW |
9 |
119,880,444 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6244:Cx3cr1
|
UTSW |
9 |
119,880,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6790:Cx3cr1
|
UTSW |
9 |
119,880,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Cx3cr1
|
UTSW |
9 |
119,881,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8081:Cx3cr1
|
UTSW |
9 |
119,880,878 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8138:Cx3cr1
|
UTSW |
9 |
119,880,649 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9455:Cx3cr1
|
UTSW |
9 |
119,880,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCCCAGACTAATGGTGAC -3'
(R):5'- AGTATGACGATTCTGCTGAGGC -3'
Sequencing Primer
(F):5'- TGACACCGTGCTGCACTG -3'
(R):5'- GACATTGTGGCCTTTGGAACCATC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation