Incidental Mutation 'R9080:Cxcr5'
ID 689968
Institutional Source Beutler Lab
Gene Symbol Cxcr5
Ensembl Gene ENSMUSG00000047880
Gene Name C-X-C motif chemokine receptor 5
Synonyms Blr1, CXCR-5, Gpcr6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R9080 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44423084-44437741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44424563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 365 (S365P)
Ref Sequence ENSEMBL: ENSMUSP00000050444 (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: S365P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050444
Gene: ENSMUSG00000047880
AA Change: S365P

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 damaging
Transcript: ENSMUST00000179828
AA Change: S365P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137518
Gene: ENSMUSG00000047880
AA Change: S365P

DomainStartEndE-ValueType
Pfam:7tm_1 70 324 1.7e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215293
AA Change: S365P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000215661
Predicted Effect probably benign
Transcript: ENSMUST00000218183
Predicted Effect probably benign
Transcript: ENSMUST00000220303
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T C 6: 52,155,973 (GRCm39) I13T unknown Het
Adad1 G T 3: 37,119,398 (GRCm39) V160L probably benign Het
Adamts6 T A 13: 104,449,427 (GRCm39) M279K probably damaging Het
Adgra2 T C 8: 27,604,529 (GRCm39) S535P probably benign Het
Akr1c13 C T 13: 4,241,172 (GRCm39) probably benign Het
Anapc1 A G 2: 128,464,426 (GRCm39) I1690T possibly damaging Het
Ccdc138 A G 10: 58,397,884 (GRCm39) M575V probably damaging Het
Cfap100 T C 6: 90,383,183 (GRCm39) N330S unknown Het
Col12a1 T C 9: 79,517,133 (GRCm39) D2849G probably benign Het
Cox11 G A 11: 90,535,246 (GRCm39) M232I probably damaging Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Cspp1 G A 1: 10,183,919 (GRCm39) S848N probably benign Het
Dclre1c A T 2: 3,458,589 (GRCm39) M389L probably benign Het
Dlc1 T C 8: 37,052,006 (GRCm39) D124G probably benign Het
Dtx3 A T 10: 127,027,137 (GRCm39) S346T possibly damaging Het
Exosc10 A G 4: 148,649,121 (GRCm39) D337G probably damaging Het
Fpr1 G A 17: 18,097,212 (GRCm39) A259V probably benign Het
Gm11232 A T 4: 71,676,070 (GRCm39) M25K probably benign Het
Gm4950 A G 18: 51,998,922 (GRCm39) V11A possibly damaging Het
Gsap C T 5: 21,399,410 (GRCm39) T37I possibly damaging Het
Igfbp2 T A 1: 72,891,157 (GRCm39) C252S probably damaging Het
Ing2 T C 8: 48,121,808 (GRCm39) T247A possibly damaging Het
Ints1 C T 5: 139,739,300 (GRCm39) V2028M probably benign Het
Itfg1 A G 8: 86,466,874 (GRCm39) F400L possibly damaging Het
Itga6 A G 2: 71,673,633 (GRCm39) Y889C probably benign Het
Kcnh3 A G 15: 99,139,667 (GRCm39) E882G probably damaging Het
Limch1 T A 5: 67,174,992 (GRCm39) C515S probably benign Het
Lrrc74a G T 12: 86,795,908 (GRCm39) V294F possibly damaging Het
Megf8 A G 7: 25,041,131 (GRCm39) E1120G probably damaging Het
Nbea A T 3: 55,912,516 (GRCm39) Y1090* probably null Het
Nckap1 A G 2: 80,350,726 (GRCm39) Y794H probably damaging Het
Nfib T C 4: 82,623,754 (GRCm39) M25V Het
Ogfod2 A G 5: 124,253,007 (GRCm39) E339G probably damaging Het
Olah T A 2: 3,349,389 (GRCm39) E64V probably damaging Het
Or2a14 T A 6: 43,130,830 (GRCm39) V197D possibly damaging Het
Or9a4 T A 6: 40,548,563 (GRCm39) L81H probably damaging Het
Pdcd6ip T A 9: 113,520,624 (GRCm39) K120M probably damaging Het
Pex1 A G 5: 3,655,476 (GRCm39) I134V probably damaging Het
Plekhm2 T C 4: 141,359,039 (GRCm39) H576R probably damaging Het
Ptpn13 T A 5: 103,637,494 (GRCm39) H127Q probably damaging Het
Rmnd5b C T 11: 51,515,055 (GRCm39) probably null Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Sec16b C A 1: 157,393,300 (GRCm39) Q995K probably benign Het
Serpinb6d T A 13: 33,855,107 (GRCm39) S260R probably benign Het
Slc47a1 C T 11: 61,264,219 (GRCm39) G67S possibly damaging Het
Slco6d1 T C 1: 98,348,983 (GRCm39) V18A probably benign Het
Tfcp2 GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA 15: 100,395,968 (GRCm39) probably null Het
Tiam2 T G 17: 3,464,519 (GRCm39) C83G probably benign Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tln2 C T 9: 67,253,843 (GRCm39) G743R probably damaging Het
Tnks CCCGCCGCCGCCGCCGCCGCCG CCCGCCGCCGCCGCCGCCG 8: 35,432,466 (GRCm39) probably benign Het
Ttn G A 2: 76,536,843 (GRCm39) T34994I probably benign Het
Ube2q2l T A 6: 136,377,720 (GRCm39) D370V probably damaging Het
Uggt2 T A 14: 119,295,017 (GRCm39) E536D probably benign Het
Usp54 T C 14: 20,612,308 (GRCm39) E836G probably damaging Het
Vmn1r41 C T 6: 89,724,138 (GRCm39) T63M unknown Het
Vmn2r72 A C 7: 85,387,464 (GRCm39) I700S probably damaging Het
Xrcc4 T C 13: 90,149,097 (GRCm39) N141S probably damaging Het
Zfp638 T C 6: 83,844,155 (GRCm39) V6A unknown 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
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
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'- CTAAGGTGATACAGGTGGCC -3'
(R):5'- CCTTGTGTGAATTCCTGGGC -3'

Sequencing Primer
(F):5'- GCCTGGATATAGCTTGCTTTGCC -3'
(R):5'- TGAATTCCTGGGCCTGGCAC -3'
Posted On 2021-11-19