Incidental Mutation 'R9714:Cd19'
ID 730351
Institutional Source Beutler Lab
Gene Symbol Cd19
Ensembl Gene ENSMUSG00000030724
Gene Name CD19 antigen
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.834) question?
Stock # R9714 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126007622-126014061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126010230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 381 (I381V)
Ref Sequence ENSEMBL: ENSMUSP00000145803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032968] [ENSMUST00000206325]
AlphaFold P25918
Predicted Effect probably benign
Transcript: ENSMUST00000032968
AA Change: I380V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032968
Gene: ENSMUSG00000030724
AA Change: I380V

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: I381V

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A C 7: 120,030,383 (GRCm39) D165A probably benign Het
Abca3 T A 17: 24,595,702 (GRCm39) C352S probably benign Het
AC157566.4 T C 15: 76,418,354 (GRCm39) T52A probably benign Het
Col17a1 C T 19: 47,636,634 (GRCm39) V1374I unknown Het
Crb2 G A 2: 37,681,215 (GRCm39) G686D probably damaging Het
Dok1 A G 6: 83,008,275 (GRCm39) V469A probably benign Het
Glg1 A G 8: 111,924,301 (GRCm39) L229S probably damaging Het
Hsd3b6 A G 3: 98,713,645 (GRCm39) F218S probably benign Het
Kif1c T C 11: 70,615,660 (GRCm39) V588A probably benign Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Med13l T A 5: 118,866,438 (GRCm39) D497E probably benign Het
Mms19 A G 19: 41,935,410 (GRCm39) F869L possibly damaging Het
Myo19 A G 11: 84,773,542 (GRCm39) M1V probably null Het
Notum T C 11: 120,551,019 (GRCm39) E49G probably benign Het
Nup153 G A 13: 46,866,435 (GRCm39) T203I possibly damaging Het
Parvb G T 15: 84,167,041 (GRCm39) G119C probably damaging Het
Pcdh10 G A 3: 45,336,010 (GRCm39) A775T probably damaging Het
Pla2g4f C T 2: 120,142,900 (GRCm39) R70Q probably benign Het
Plxna1 A T 6: 89,296,440 (GRCm39) L1868Q probably damaging Het
Pmm2 T C 16: 8,473,506 (GRCm39) L240P probably damaging Het
Ptprc T A 1: 138,008,687 (GRCm39) T667S probably damaging Het
Rsad1 A G 11: 94,435,298 (GRCm39) V263A probably benign Het
Sardh C T 2: 27,079,641 (GRCm39) V884M possibly damaging Het
Slc35a5 T C 16: 44,964,426 (GRCm39) E269G probably damaging Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,781 (GRCm39) probably benign Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Taf11 T C 17: 28,122,136 (GRCm39) E116G probably damaging Het
Tbc1d10a G T 11: 4,163,683 (GRCm39) A312S probably damaging Het
Tiam1 T A 16: 89,694,647 (GRCm39) H270L probably benign Het
Vmn2r31 T A 7: 7,387,367 (GRCm39) I735F probably damaging Het
Vwf G A 6: 125,601,536 (GRCm39) R826Q 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
R6846:Cd19 UTSW 7 126,010,025 (GRCm39) missense probably benign 0.28
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
Predicted Primers PCR Primer
(F):5'- CTGTCTGGCTCTTCATAGGC -3'
(R):5'- CTTGTCCTAGAACTTGAGGCC -3'

Sequencing Primer
(F):5'- GGCTCTTCATAGGCCTCCC -3'
(R):5'- AGGCCAAGGCTCAGATTTTGATC -3'
Posted On 2022-10-06