Incidental Mutation 'PIT4472001:Ccr1'
| ID |
555870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccr1
|
| Ensembl Gene |
ENSMUSG00000025804 |
| Gene Name |
C-C motif chemokine receptor 1 |
| Synonyms |
Cmkbr1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
PIT4472001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
123762163-123768729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123763765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 255
(Y255C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026911]
|
| AlphaFold |
P51675 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026911
AA Change: Y255C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026911
Gene: ENSMUSG00000025804
AA Change: Y255C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
45 |
316 |
5.1e-8 |
PFAM |
|
Pfam:7tm_1
|
51 |
301 |
8.5e-52 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.7%
- 3x: 90.8%
- 10x: 84.2%
- 20x: 70.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered trafficking and proliferation of myeloid progenitor cells, and impairments in granulomatous inflammation of the lung and neutrophil associated host defense. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
A |
9: 99,502,613 (GRCm39) |
P258T |
probably damaging |
Het |
| Arvcf |
T |
C |
16: 18,221,699 (GRCm39) |
V714A |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,422,726 (GRCm39) |
I532V |
probably damaging |
Het |
| Cbr1 |
T |
A |
16: 93,406,692 (GRCm39) |
V136E |
probably damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,126,184 (GRCm39) |
M102V |
unknown |
Het |
| Cd300e |
T |
A |
11: 114,945,336 (GRCm39) |
I153F |
possibly damaging |
Het |
| Chd7 |
C |
T |
4: 8,753,101 (GRCm39) |
L533F |
unknown |
Het |
| Cpvl |
A |
T |
6: 53,873,464 (GRCm39) |
F424Y |
possibly damaging |
Het |
| Cxcl16 |
C |
T |
11: 70,349,625 (GRCm39) |
G80R |
probably damaging |
Het |
| Cyp2g1 |
T |
C |
7: 26,513,619 (GRCm39) |
V186A |
probably benign |
Het |
| Cyp4f15 |
T |
A |
17: 32,921,798 (GRCm39) |
M490K |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,155,774 (GRCm39) |
V1160D |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,148,421 (GRCm39) |
D2609G |
possibly damaging |
Het |
| Fgf5 |
T |
A |
5: 98,409,838 (GRCm39) |
V129E |
probably damaging |
Het |
| Fhl5 |
C |
A |
4: 25,211,194 (GRCm39) |
C166F |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,890,374 (GRCm39) |
T1035I |
probably benign |
Het |
| Gcnt2 |
G |
A |
13: 41,071,413 (GRCm39) |
V19M |
probably benign |
Het |
| Gga1 |
C |
A |
15: 78,777,836 (GRCm39) |
A595D |
probably damaging |
Het |
| Gpaa1 |
C |
T |
15: 76,218,940 (GRCm39) |
T594I |
probably benign |
Het |
| Gskip |
C |
T |
12: 105,651,121 (GRCm39) |
|
probably benign |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,620 (GRCm39) |
V112A |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,138,732 (GRCm39) |
T185S |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,071,699 (GRCm39) |
V862A |
|
Het |
| Lats2 |
A |
C |
14: 57,936,814 (GRCm39) |
Y558* |
probably null |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Mnx1 |
T |
C |
5: 29,679,105 (GRCm39) |
E326G |
unknown |
Het |
| Mtmr10 |
A |
G |
7: 63,983,106 (GRCm39) |
E471G |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,855,310 (GRCm39) |
V12M |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,945,273 (GRCm39) |
V2177M |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,894,306 (GRCm39) |
E693G |
unknown |
Het |
| Pclo |
T |
C |
5: 14,763,182 (GRCm39) |
M600T |
possibly damaging |
Het |
| Pdgfra |
T |
A |
5: 75,340,907 (GRCm39) |
M622K |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,663,209 (GRCm39) |
L428P |
probably damaging |
Het |
| Pfkfb4 |
T |
C |
9: 108,828,222 (GRCm39) |
Y86H |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,254,983 (GRCm39) |
Y335H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,854,477 (GRCm39) |
V150M |
|
Het |
| Pou4f3 |
A |
G |
18: 42,527,717 (GRCm39) |
M4V |
probably benign |
Het |
| Ppp1r13b |
G |
A |
12: 111,799,074 (GRCm39) |
R864C |
probably damaging |
Het |
| R3hdm4 |
A |
G |
10: 79,749,389 (GRCm39) |
|
probably null |
Het |
| Skil |
T |
A |
3: 31,152,381 (GRCm39) |
V301D |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,667,460 (GRCm39) |
T879M |
probably damaging |
Het |
| Strip1 |
G |
A |
3: 107,535,486 (GRCm39) |
A79V |
probably benign |
Het |
| Tpgs2 |
G |
A |
18: 25,301,652 (GRCm39) |
T5M |
possibly damaging |
Het |
| Trim34a |
T |
A |
7: 103,897,155 (GRCm39) |
L73Q |
probably damaging |
Het |
| Trpv4 |
T |
A |
5: 114,764,984 (GRCm39) |
T677S |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
Het |
|
| Other mutations in Ccr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Ccr1
|
APN |
9 |
123,764,090 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL00550:Ccr1
|
APN |
9 |
123,763,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00934:Ccr1
|
APN |
9 |
123,763,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01795:Ccr1
|
APN |
9 |
123,764,149 (GRCm39) |
nonsense |
probably null |
|
|
IGL02447:Ccr1
|
APN |
9 |
123,763,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4431001:Ccr1
|
UTSW |
9 |
123,764,231 (GRCm39) |
missense |
probably benign |
|
|
PIT4466001:Ccr1
|
UTSW |
9 |
123,763,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0900:Ccr1
|
UTSW |
9 |
123,764,371 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0931:Ccr1
|
UTSW |
9 |
123,763,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1165:Ccr1
|
UTSW |
9 |
123,763,531 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1386:Ccr1
|
UTSW |
9 |
123,763,999 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1513:Ccr1
|
UTSW |
9 |
123,764,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1615:Ccr1
|
UTSW |
9 |
123,763,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1833:Ccr1
|
UTSW |
9 |
123,764,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Ccr1
|
UTSW |
9 |
123,763,551 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3833:Ccr1
|
UTSW |
9 |
123,764,324 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4085:Ccr1
|
UTSW |
9 |
123,763,987 (GRCm39) |
missense |
probably benign |
|
|
R4545:Ccr1
|
UTSW |
9 |
123,764,437 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4745:Ccr1
|
UTSW |
9 |
123,763,985 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5369:Ccr1
|
UTSW |
9 |
123,764,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5415:Ccr1
|
UTSW |
9 |
123,764,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:Ccr1
|
UTSW |
9 |
123,764,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6446:Ccr1
|
UTSW |
9 |
123,764,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7179:Ccr1
|
UTSW |
9 |
123,764,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7423:Ccr1
|
UTSW |
9 |
123,764,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8087:Ccr1
|
UTSW |
9 |
123,764,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8258:Ccr1
|
UTSW |
9 |
123,764,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Ccr1
|
UTSW |
9 |
123,764,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Ccr1
|
UTSW |
9 |
123,763,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Ccr1
|
UTSW |
9 |
123,763,831 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8870:Ccr1
|
UTSW |
9 |
123,764,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8936:Ccr1
|
UTSW |
9 |
123,763,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTTTGAAACAGCTGCC -3'
(R):5'- ATTTCCCCTACAAGAGCCTGAAG -3'
Sequencing Primer
(F):5'- AGGCAATCACCTCAGTCA -3'
(R):5'- CCTGAAGCAGTGGAAGAGGTTTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation