Incidental Mutation 'R7226:Cd19'
ID562159
Institutional Source Beutler Lab
Gene Symbol Cd19
Ensembl Gene ENSMUSG00000030724
Gene NameCD19 antigen
SynonymsAW495831
MMRRC Submission
Accession Numbers

Ncbi Ref Seq: NM_009844.2; MGI: 88319

Is this an essential gene? Probably essential (E-score: 0.823) question?
Stock #R7226 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location126408450-126414889 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 126414823 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 5 (L5P)
Ref Sequence ENSEMBL: ENSMUSP00000145803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032968] [ENSMUST00000206325]
Predicted Effect unknown
Transcript: ENSMUST00000032968
AA Change: L5P
SMART Domains Protein: ENSMUSP00000032968
Gene: ENSMUSG00000030724
AA Change: L5P

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 unknown
Transcript: ENSMUST00000206325
AA Change: L5P
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025B11Rik C T 15: 77,558,989 V17I unknown Het
Acad8 T A 9: 26,978,430 K323* probably null Het
Adam18 A T 8: 24,647,808 C339S probably damaging Het
Anxa7 A G 14: 20,460,195 F396L probably damaging Het
Ap2m1 T A 16: 20,539,451 V73D probably damaging Het
Asic2 A T 11: 80,971,514 I270N probably damaging Het
Atrn T G 2: 130,986,744 C1070G probably damaging Het
Bag6 A G 17: 35,142,945 N517S unknown Het
Cavin1 A C 11: 100,970,458 D3E probably benign Het
Cc2d2b T C 19: 40,791,307 L571P unknown Het
Ccbe1 A T 18: 66,083,128 C175S probably damaging Het
Cd46 A G 1: 195,042,006 S362P possibly damaging Het
Celf5 A G 10: 81,468,029 S198P probably damaging Het
Cep170b A G 12: 112,737,925 R706G possibly damaging Het
Chd3 G T 11: 69,369,211 R61S unknown Het
Cpsf6 A C 10: 117,361,822 W253G unknown Het
Cyp27a1 G A 1: 74,737,348 G481D probably damaging Het
Ddr1 C T 17: 35,691,147 D218N possibly damaging Het
Dhx34 A T 7: 16,198,876 V1046D probably damaging Het
Dhx9 A T 1: 153,465,677 D608E probably benign Het
Dnajc6 C A 4: 101,639,372 A912E probably damaging Het
Ehmt1 T C 2: 24,804,782 D1051G probably damaging Het
Fam217b C A 2: 178,421,203 A320E probably benign Het
Farsa T A 8: 84,864,060 I169N probably benign Het
Fbn2 A G 18: 58,037,070 C2210R probably damaging Het
Fbxo3 T A 2: 104,050,297 S251T probably benign Het
Fer1l6 C T 15: 58,590,535 T813I probably benign Het
Ftl1-ps1 A T 13: 74,406,995 E131V probably damaging Het
Gins3 T A 8: 95,637,871 I83N probably damaging Het
Gja3 T C 14: 57,035,893 T341A probably benign Het
Gja5 A G 3: 97,050,858 Y77C probably damaging Het
Gm14085 C A 2: 122,522,532 R453S probably benign Het
Gm5096 A G 18: 87,757,466 D371G possibly damaging Het
Gm7247 A G 14: 51,365,351 K48R probably damaging Het
Gsx2 C A 5: 75,075,960 S67* probably null Het
H2-Q5 T A 17: 35,397,113 L217Q Het
Impg2 T A 16: 56,267,104 C1095* probably null Het
Itga7 G T 10: 128,940,932 W222L probably damaging Het
Kdm2b T A 5: 122,921,449 D530V possibly damaging Het
Klhdc8a A T 1: 132,302,606 D153V probably damaging Het
Lin28a C T 4: 134,006,308 G143S probably damaging Het
Memo1 A G 17: 74,202,343 L227S probably damaging Het
Mettl27 T A 5: 134,935,803 V138E probably damaging Het
Mov10 G T 3: 104,801,012 L474I probably damaging Het
Nat10 T C 2: 103,726,753 N852S probably benign Het
Nfkbie T C 17: 45,559,227 V166A possibly damaging Het
Nktr T C 9: 121,746,533 M369T probably damaging Het
Nlrp9a A T 7: 26,558,724 N589I probably benign Het
Nrn1 G A 13: 36,730,603 R8C probably benign Het
Nrsn1 A G 13: 25,253,468 I159T probably damaging Het
Olfr132 C T 17: 38,130,433 G253D probably benign Het
Olfr389 A G 11: 73,776,677 S217P possibly damaging Het
Olfr485 A T 7: 108,158,957 D305E probably benign Het
Olfr794 G A 10: 129,570,715 G20D probably benign Het
Osbp T A 19: 11,978,667 D385E probably benign Het
Pan3 T A 5: 147,526,992 N547K probably damaging Het
Pum1 C A 4: 130,771,981 T1036K probably damaging Het
Rad54l2 C A 9: 106,713,472 R485L probably damaging Het
Rps26 A T 10: 128,625,218 F101I unknown Het
Sdsl T C 5: 120,460,637 N138S probably benign Het
Slc39a6 A T 18: 24,584,027 H649Q probably damaging Het
Snip1 T A 4: 125,071,480 F226Y probably benign Het
Srrd T C 5: 112,337,456 T334A unknown Het
St14 C T 9: 31,100,152 D448N possibly damaging Het
Tmem270 T A 5: 134,901,684 Q241L probably benign Het
Tmem55a T A 4: 14,892,464 D109E probably damaging Het
Tubb4b T C 2: 25,224,168 D41G probably benign Het
Uhrf1bp1l A T 10: 89,808,641 Q1181L probably benign Het
Usf3 T C 16: 44,220,005 M1616T possibly damaging Het
Vmn2r95 A T 17: 18,451,983 I733F possibly damaging Het
Zfp976 A T 7: 42,613,260 C385* probably null Het
Other mutations in Cd19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01896:Cd19 APN 7 126414350 missense possibly damaging 0.74
IGL02243:Cd19 APN 7 126410793 splice site probably null
IGL02465:Cd19 APN 7 126413558 missense possibly damaging 0.65
IGL02824:Cd19 APN 7 126410654 missense probably damaging 0.96
IGL03164:Cd19 APN 7 126413509 missense possibly damaging 0.95
hive UTSW 7 126412109 missense probably damaging 1.00
R0076:Cd19 UTSW 7 126410862 missense probably damaging 1.00
R0076:Cd19 UTSW 7 126410862 missense probably damaging 1.00
R1147:Cd19 UTSW 7 126411045 missense possibly damaging 0.60
R1147:Cd19 UTSW 7 126411045 missense possibly damaging 0.60
R1860:Cd19 UTSW 7 126409641 missense probably damaging 1.00
R2309:Cd19 UTSW 7 126414275 missense probably benign 0.01
R4422:Cd19 UTSW 7 126413406 missense probably benign 0.31
R4532:Cd19 UTSW 7 126412109 missense probably damaging 1.00
R4649:Cd19 UTSW 7 126414492 missense probably benign 0.00
R5400:Cd19 UTSW 7 126414452 missense probably benign 0.34
R6846:Cd19 UTSW 7 126410853 missense probably benign 0.28
R7027:Cd19 UTSW 7 126410499 missense possibly damaging 0.72
R7464:Cd19 UTSW 7 126411803 missense probably damaging 1.00
R7612:Cd19 UTSW 7 126414324 missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TATGGAAGCTCTAAGGGTCTTTC -3'
(R):5'- CTGCAAATGGAGGCCTAACC -3'

Sequencing Primer
(F):5'- TGACTCCTCCCAGTTTACAAGTAAG -3'
(R):5'- GGCCTAACCTAAGGTGTGAC -3'
Posted On2019-06-26