Incidental Mutation 'R5659:Cxcr5'
ID 443985
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 043303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R5659 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44423084-44437741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44424690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 322 (M322I)
Ref Sequence ENSEMBL: ENSMUSP00000149508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062215] [ENSMUST00000074989] [ENSMUST00000179828] [ENSMUST00000215293] [ENSMUST00000215661] [ENSMUST00000218183] [ENSMUST00000220303]
AlphaFold Q04683
Predicted Effect probably benign
Transcript: ENSMUST00000062215
AA Change: M322I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000050444
Gene: ENSMUSG00000047880
AA Change: M322I

DomainStartEndE-ValueType
Pfam:7tm_1 70 324 8.9e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074989
SMART Domains Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000179828
AA Change: M322I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000137518
Gene: ENSMUSG00000047880
AA Change: M322I

DomainStartEndE-ValueType
Pfam:7tm_1 70 324 1.7e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215293
AA Change: M322I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000215661
Predicted Effect probably benign
Transcript: ENSMUST00000218183
Predicted Effect probably benign
Transcript: ENSMUST00000220303
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 T C 18: 36,694,103 (GRCm39) S105P probably damaging Het
Ano5 G A 7: 51,233,562 (GRCm39) R658H possibly damaging Het
Ap3b2 T A 7: 81,126,500 (GRCm39) I367F probably damaging Het
Apaf1 A T 10: 90,898,015 (GRCm39) C247* probably null Het
Aqp8 G A 7: 123,065,889 (GRCm39) W228* probably null Het
Arhgap32 T A 9: 32,093,256 (GRCm39) V178D probably damaging Het
Atp10b T A 11: 43,136,252 (GRCm39) W1127R probably damaging Het
Bcl6 A T 16: 23,787,159 (GRCm39) C580* probably null Het
Brd1 T C 15: 88,597,584 (GRCm39) T568A probably benign Het
Brsk1 C T 7: 4,718,371 (GRCm39) P665L possibly damaging Het
Cblc A G 7: 19,526,857 (GRCm39) L125P probably damaging Het
Ccdc87 T C 19: 4,890,878 (GRCm39) S457P probably damaging Het
Cyb5r4 T A 9: 86,937,881 (GRCm39) F300Y probably benign Het
Cyp3a25 T C 5: 145,928,356 (GRCm39) T230A possibly damaging Het
Dhx9 A G 1: 153,347,481 (GRCm39) V409A probably damaging Het
Dnah7b A G 1: 46,392,009 (GRCm39) D3790G probably damaging Het
Gin1 A G 1: 97,703,257 (GRCm39) T27A possibly damaging Het
Gipc1 A T 8: 84,390,755 (GRCm39) M287L probably benign Het
Kat6a T A 8: 23,428,176 (GRCm39) L1177* probably null Het
Klhl20 A G 1: 160,918,040 (GRCm39) V82A probably damaging Het
Kmt2e T C 5: 23,702,805 (GRCm39) I995T probably damaging Het
Lpin1 A T 12: 16,590,990 (GRCm39) V814E probably damaging Het
Luzp1 T A 4: 136,269,787 (GRCm39) V670D probably damaging Het
Lyst C A 13: 13,809,212 (GRCm39) A294E possibly damaging Het
Olr1 T A 6: 129,476,992 (GRCm39) E91V probably damaging Het
Or1j1 A T 2: 36,702,966 (GRCm39) I46N probably damaging Het
Or2k2 A T 4: 58,785,672 (GRCm39) F17I probably damaging Het
Or8b55 C T 9: 38,727,072 (GRCm39) T91I probably benign Het
Pam T C 1: 97,770,024 (GRCm39) Y476C probably damaging Het
Pcdhac1 T C 18: 37,225,470 (GRCm39) L761P probably damaging Het
Phf21b C T 15: 84,678,101 (GRCm39) W300* probably null Het
Pld2 T C 11: 70,448,387 (GRCm39) *945Q probably null Het
Ppp1r37 C T 7: 19,269,448 (GRCm39) V145M probably damaging Het
Rasgrf1 T A 9: 89,866,342 (GRCm39) N593K probably damaging Het
Rhot1 T G 11: 80,141,181 (GRCm39) probably null Het
Rmnd1 A T 10: 4,377,382 (GRCm39) M99K probably benign Het
Ros1 G A 10: 52,019,482 (GRCm39) T697I possibly damaging Het
Scgb1b10 G T 7: 31,800,303 (GRCm39) A4S probably benign Het
Shc3 T C 13: 51,670,630 (GRCm39) Y39C probably damaging Het
Slc25a23 A G 17: 57,352,500 (GRCm39) probably benign Het
Slc5a8 C T 10: 88,755,290 (GRCm39) L466F possibly damaging Het
Sqor G A 2: 122,629,523 (GRCm39) C127Y probably benign Het
Sv2a G C 3: 96,097,619 (GRCm39) W467S possibly damaging Het
Togaram2 G T 17: 71,994,667 (GRCm39) D39Y probably damaging Het
Tspan11 T A 6: 127,915,240 (GRCm39) probably null Het
Usp32 A G 11: 84,968,240 (GRCm39) V141A possibly damaging Het
Zbtb38 T C 9: 96,569,473 (GRCm39) H537R probably damaging Het
Zfat T C 15: 67,990,862 (GRCm39) Y1008C probably damaging Het
Zfp637 G A 6: 117,820,291 (GRCm39) G3E probably damaging Het
Zfp788 T A 7: 41,299,540 (GRCm39) Y673* probably null Het
Zhx2 T C 15: 57,685,704 (GRCm39) S358P probably benign Het
Other mutations in Cxcr5
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0688:Cxcr5 UTSW 9 44,424,964 (GRCm39) splice site probably null
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
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'- TTCCGGGATCTAGAAGGTGG -3'
(R):5'- ACTACCGATGCTTGTGATGG -3'

Sequencing Primer
(F):5'- GTGAGGGAAGTAGCATTCTCTGACTC -3'
(R):5'- GTGGCCATTTTAGTGACAAGC -3'
Posted On 2016-11-09