Incidental Mutation 'R6846:Cd19'
ID 534762
Institutional Source Beutler Lab
Gene Symbol Cd19
Ensembl Gene ENSMUSG00000030724
Gene Name CD19 antigen
Synonyms
MMRRC Submission 044952-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.834) question?
Stock # R6846 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126007622-126014061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126010025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 408 (E408G)
Ref Sequence ENSEMBL: ENSMUSP00000032968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032968] [ENSMUST00000206325]
AlphaFold P25918
Predicted Effect probably benign
Transcript: ENSMUST00000032968
AA Change: E408G

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032968
Gene: ENSMUSG00000030724
AA Change: E408G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 23 116 9.12e-7 SMART
low complexity region 139 150 N/A INTRINSIC
IG 182 273 2.41e-6 SMART
transmembrane domain 288 310 N/A INTRINSIC
low complexity region 390 415 N/A INTRINSIC
low complexity region 433 445 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206325
AA Change: E409G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal B lymphocyte development, activation and differentiation, altered mast cell activation in a model for acute septic peritonitis, inhibition of bleomycin-induced fibrosis and autoantibody production, and increased susceptibility to EAE. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,989,221 (GRCm39) N3502D possibly damaging Het
Ambn T A 5: 88,609,574 (GRCm39) I94K possibly damaging Het
Ank3 A G 10: 69,660,179 (GRCm39) H227R probably damaging Het
Arhgap42 G T 9: 9,006,446 (GRCm39) P650Q probably damaging Het
Bahcc1 A G 11: 120,162,422 (GRCm39) E240G possibly damaging Het
Cdh11 G A 8: 103,391,276 (GRCm39) T320I probably damaging Het
Cep131 G A 11: 119,956,517 (GRCm39) R944W probably damaging Het
Dgkd T G 1: 87,853,413 (GRCm39) probably null Het
Dnaaf1 T A 8: 120,309,401 (GRCm39) L163Q probably damaging Het
Ecpas A G 4: 58,814,081 (GRCm39) C1342R possibly damaging Het
Etl4 T A 2: 20,748,919 (GRCm39) L550Q possibly damaging Het
Evpl T C 11: 116,114,633 (GRCm39) E1019G probably damaging Het
Fam120b T C 17: 15,635,091 (GRCm39) L601P probably damaging Het
Fhit C A 14: 9,763,762 (GRCm38) R172L possibly damaging Het
Hoxa6 T C 6: 52,183,523 (GRCm39) H174R possibly damaging Het
Htra4 A G 8: 25,520,561 (GRCm39) F367L probably damaging Het
Ighg2c A G 12: 113,251,930 (GRCm39) I102T unknown Het
Iws1 T C 18: 32,219,326 (GRCm39) probably benign Het
Lats2 A G 14: 57,933,591 (GRCm39) V842A probably damaging Het
Limd2 C T 11: 106,050,213 (GRCm39) M1I probably null Het
Lrp2 T A 2: 69,348,787 (GRCm39) Q728L probably damaging Het
Mcc T A 18: 44,606,707 (GRCm39) T400S possibly damaging Het
Mthfd1l A G 10: 3,997,898 (GRCm39) D623G probably damaging Het
Myocos T C 1: 162,484,665 (GRCm39) probably benign Het
Nat1 G T 8: 67,943,995 (GRCm39) A124S probably benign Het
Nfya A T 17: 48,702,715 (GRCm39) M62K probably benign Het
Nlgn1 A G 3: 25,490,506 (GRCm39) V378A probably damaging Het
Or52r1c T A 7: 102,735,265 (GRCm39) I175N possibly damaging Het
Or5ak22 A T 2: 85,230,861 (GRCm39) N5K probably damaging Het
Pitpnm2 T C 5: 124,269,234 (GRCm39) S463G probably benign Het
Serpinb3b T C 1: 107,082,403 (GRCm39) E287G probably benign Het
Slc16a13 T C 11: 70,108,661 (GRCm39) T390A probably benign Het
Slc7a14 A G 3: 31,278,372 (GRCm39) M411T probably damaging Het
Strn A G 17: 79,043,886 (GRCm39) F11L probably damaging Het
Swap70 T A 7: 109,854,956 (GRCm39) F85L possibly damaging Het
Tanc2 T A 11: 105,689,479 (GRCm39) W214R probably benign Het
Tenm3 T C 8: 48,729,773 (GRCm39) K1411R probably benign Het
Tmem176a G T 6: 48,820,759 (GRCm39) R116L probably damaging Het
Trim71 G T 9: 114,354,115 (GRCm39) H296Q probably damaging Het
Vmn1r67 A T 7: 10,180,840 (GRCm39) I35L probably benign Het
Vnn3 A G 10: 23,727,620 (GRCm39) T47A probably benign Het
Zscan10 A T 17: 23,824,581 (GRCm39) Q12H probably damaging Het
Other mutations in Cd19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01896:Cd19 APN 7 126,013,522 (GRCm39) missense possibly damaging 0.74
IGL02243:Cd19 APN 7 126,009,965 (GRCm39) splice site probably null
IGL02465:Cd19 APN 7 126,012,730 (GRCm39) missense possibly damaging 0.65
IGL02824:Cd19 APN 7 126,009,826 (GRCm39) missense probably damaging 0.96
IGL03164:Cd19 APN 7 126,012,681 (GRCm39) missense possibly damaging 0.95
buzzing UTSW 7 126,010,034 (GRCm39) missense probably damaging 1.00
Hexagonal UTSW 7 126,013,478 (GRCm39) nonsense probably null
Hive UTSW 7 126,011,281 (GRCm39) missense probably damaging 1.00
R0076:Cd19 UTSW 7 126,010,034 (GRCm39) missense probably damaging 1.00
R0076:Cd19 UTSW 7 126,010,034 (GRCm39) missense probably damaging 1.00
R1147:Cd19 UTSW 7 126,010,217 (GRCm39) missense possibly damaging 0.60
R1147:Cd19 UTSW 7 126,010,217 (GRCm39) missense possibly damaging 0.60
R1860:Cd19 UTSW 7 126,008,813 (GRCm39) missense probably damaging 1.00
R2309:Cd19 UTSW 7 126,013,447 (GRCm39) missense probably benign 0.01
R4422:Cd19 UTSW 7 126,012,578 (GRCm39) missense probably benign 0.31
R4532:Cd19 UTSW 7 126,011,281 (GRCm39) missense probably damaging 1.00
R4649:Cd19 UTSW 7 126,013,664 (GRCm39) missense probably benign 0.00
R5400:Cd19 UTSW 7 126,013,624 (GRCm39) missense probably benign 0.34
R7027:Cd19 UTSW 7 126,009,671 (GRCm39) missense possibly damaging 0.72
R7226:Cd19 UTSW 7 126,013,995 (GRCm39) missense unknown
R7464:Cd19 UTSW 7 126,010,975 (GRCm39) missense probably damaging 1.00
R7612:Cd19 UTSW 7 126,013,496 (GRCm39) missense possibly damaging 0.87
R7797:Cd19 UTSW 7 126,012,680 (GRCm39) missense probably damaging 1.00
R7869:Cd19 UTSW 7 126,009,698 (GRCm39) missense probably damaging 1.00
R7885:Cd19 UTSW 7 126,011,303 (GRCm39) missense probably benign 0.03
R8151:Cd19 UTSW 7 126,013,478 (GRCm39) nonsense probably null
R8317:Cd19 UTSW 7 126,012,615 (GRCm39) nonsense probably null
R8438:Cd19 UTSW 7 126,013,515 (GRCm39) missense possibly damaging 0.62
R8943:Cd19 UTSW 7 126,011,330 (GRCm39) missense probably benign 0.01
R9591:Cd19 UTSW 7 126,011,296 (GRCm39) missense probably benign 0.01
R9605:Cd19 UTSW 7 126,010,057 (GRCm39) missense possibly damaging 0.53
R9623:Cd19 UTSW 7 126,011,284 (GRCm39) missense probably damaging 0.99
R9714:Cd19 UTSW 7 126,010,230 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- CACCACATTACCATTGGAGAAGG -3'
(R):5'- GCTCAGAGCCATGAAACAGG -3'

Sequencing Primer
(F):5'- GAAGGAGTCTTCTTCCTCTGGAC -3'
(R):5'- AACAGGTCAGATTTAAGGGTTGTTCC -3'
Posted On 2018-09-12