Incidental Mutation 'R0688:Cxcr5'
| ID |
61236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cxcr5
|
| Ensembl Gene |
ENSMUSG00000047880 |
| Gene Name |
C-X-C motif chemokine receptor 5 |
| Synonyms |
Blr1, CXCR-5, Gpcr6 |
| MMRRC Submission |
038873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R0688 (G1)
|
| Quality Score |
106 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44423084-44437741 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3245 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 44424964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151342
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062215]
[ENSMUST00000074989]
[ENSMUST00000179828]
[ENSMUST00000215293]
[ENSMUST00000215661]
[ENSMUST00000218183]
[ENSMUST00000220303]
|
| AlphaFold |
Q04683 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062215
AA Change: L231P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050444
Gene: ENSMUSG00000047880
AA Change: L231P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
70 |
324 |
8.9e-62 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000074989
|
| SMART Domains |
Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
215 |
234 |
N/A |
INTRINSIC |
|
PDB:2XB1|C
|
236 |
269 |
2e-14 |
PDB |
|
low complexity region
|
278 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
376 |
N/A |
INTRINSIC |
|
Pfam:BCL9
|
395 |
432 |
2.4e-18 |
PFAM |
|
low complexity region
|
490 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1178 |
N/A |
INTRINSIC |
|
low complexity region
|
1232 |
1245 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179828
AA Change: L231P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137518
Gene: ENSMUSG00000047880
AA Change: L231P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
70 |
324 |
1.7e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215293
AA Change: L231P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215661
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218183
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220303
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that belongs to the CXC chemokine receptor family. It is expressed in mature B-cells and Burkitt's lymphoma. This cytokine receptor binds to B-lymphocyte chemoattractant (BLC), and is involved in B-cell migration into B-cell follicles of spleen and Peyer patches. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mutants lack inguinal lymph nodes, have a few abnormal or no Peyer's patches, morphologically altered primary lymphoid follicles and no functional germinal centers in their spleen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
G |
9: 104,001,299 (GRCm39) |
V615G |
probably damaging |
Het |
| Apaf1 |
T |
G |
10: 90,897,567 (GRCm39) |
E305D |
possibly damaging |
Het |
| Apol10b |
A |
G |
15: 77,469,419 (GRCm39) |
S253P |
probably damaging |
Het |
| Bbs9 |
T |
A |
9: 22,479,015 (GRCm39) |
C153S |
probably damaging |
Het |
| Bicra |
C |
T |
7: 15,723,247 (GRCm39) |
G90D |
probably damaging |
Het |
| Clca4a |
A |
C |
3: 144,667,735 (GRCm39) |
L412R |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,249,281 (GRCm39) |
D597E |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,824,782 (GRCm39) |
I646T |
possibly damaging |
Het |
| Focad |
T |
A |
4: 88,192,450 (GRCm39) |
V593D |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,812,683 (GRCm39) |
S3001T |
probably benign |
Het |
| Ganab |
T |
A |
19: 8,888,477 (GRCm39) |
Y511N |
probably damaging |
Het |
| Gdf9 |
T |
A |
11: 53,327,467 (GRCm39) |
L141Q |
probably damaging |
Het |
| Gpr180 |
A |
G |
14: 118,385,596 (GRCm39) |
D136G |
probably benign |
Het |
| Hsd3b9 |
T |
C |
3: 98,363,710 (GRCm39) |
E45G |
probably benign |
Het |
| Itga2 |
G |
T |
13: 114,976,090 (GRCm39) |
A1094E |
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,146,565 (GRCm39) |
A1238T |
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,738 (GRCm39) |
V502A |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,478,527 (GRCm39) |
K923E |
probably damaging |
Het |
| Msh3 |
G |
A |
13: 92,487,939 (GRCm39) |
P93S |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,714,966 (GRCm39) |
D474G |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,481,522 (GRCm39) |
Y1077N |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,939 (GRCm39) |
S202R |
probably damaging |
Het |
| Or6c69 |
T |
G |
10: 129,747,752 (GRCm39) |
T132P |
probably damaging |
Het |
| Or6k14 |
A |
C |
1: 173,927,630 (GRCm39) |
H202P |
probably damaging |
Het |
| Or8u8 |
A |
T |
2: 86,011,949 (GRCm39) |
|
probably null |
Het |
| Paqr5 |
T |
G |
9: 61,880,076 (GRCm39) |
T59P |
probably benign |
Het |
| Phyhipl |
C |
T |
10: 70,395,085 (GRCm39) |
G329R |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,013,086 (GRCm39) |
Y430H |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,343,927 (GRCm39) |
F409S |
probably benign |
Het |
| Prkd3 |
A |
T |
17: 79,264,662 (GRCm39) |
M651K |
probably damaging |
Het |
| Puf60 |
A |
T |
15: 75,942,623 (GRCm39) |
M440K |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,594,009 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
A |
C |
10: 21,874,059 (GRCm39) |
M320L |
probably benign |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,351,706 (GRCm39) |
T235A |
probably damaging |
Het |
| Srrm3 |
A |
G |
5: 135,898,130 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,063,528 (GRCm39) |
T986I |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,955,517 (GRCm39) |
M301V |
possibly damaging |
Het |
|
| Other mutations in Cxcr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Cxcr5
|
APN |
9 |
44,425,607 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02850:Cxcr5
|
APN |
9 |
44,425,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Cxcr5
|
UTSW |
9 |
44,424,578 (GRCm39) |
missense |
probably benign |
|
|
R4585:Cxcr5
|
UTSW |
9 |
44,425,442 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4784:Cxcr5
|
UTSW |
9 |
44,424,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Cxcr5
|
UTSW |
9 |
44,424,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5104:Cxcr5
|
UTSW |
9 |
44,424,616 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5659:Cxcr5
|
UTSW |
9 |
44,424,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6488:Cxcr5
|
UTSW |
9 |
44,425,276 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7088:Cxcr5
|
UTSW |
9 |
44,424,683 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7664:Cxcr5
|
UTSW |
9 |
44,424,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8203:Cxcr5
|
UTSW |
9 |
44,425,451 (GRCm39) |
missense |
probably benign |
|
|
R8416:Cxcr5
|
UTSW |
9 |
44,425,583 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8885:Cxcr5
|
UTSW |
9 |
44,425,549 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9080:Cxcr5
|
UTSW |
9 |
44,424,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9366:Cxcr5
|
UTSW |
9 |
44,424,730 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0026:Cxcr5
|
UTSW |
9 |
44,424,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGCTATTCACAGCCTTCAGCC -3'
(R):5'- AGCCATCGTCCATGCTGTTCAC -3'
Sequencing Primer
(F):5'- AGCCTCTCCAGTGTATCTAGGAAG -3'
(R):5'- ACCTGCACGGCCATTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation