Incidental Mutation 'R1716:Cd22'
ID 191014
Institutional Source Beutler Lab
Gene Symbol Cd22
Ensembl Gene ENSMUSG00000030577
Gene Name CD22 antigen
Synonyms Lyb8, Lyb-8
MMRRC Submission 039749-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1716 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30564829-30579767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30577103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 68 (F68S)
Ref Sequence ENSEMBL: ENSMUSP00000140528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019248] [ENSMUST00000108125] [ENSMUST00000186154] [ENSMUST00000190617] [ENSMUST00000190646] [ENSMUST00000188157] [ENSMUST00000189718] [ENSMUST00000214289] [ENSMUST00000190753] [ENSMUST00000187989]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019248
AA Change: F68S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: F68S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 31 147 2.75e-1 SMART
IG_like 156 254 4.07e1 SMART
IGc2 269 337 2.68e-4 SMART
IGc2 365 424 4.52e-11 SMART
IG 448 523 1.21e-2 SMART
IGc2 541 599 6.75e-10 SMART
IGc2 628 687 2.68e-4 SMART
transmembrane domain 709 726 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108125
AA Change: F68S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: F68S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 31 147 2.75e-1 SMART
IG_like 156 254 4.07e1 SMART
IGc2 269 337 2.68e-4 SMART
IGc2 365 424 4.52e-11 SMART
IG 448 523 1.21e-2 SMART
IGc2 541 599 6.75e-10 SMART
IGc2 628 687 2.68e-4 SMART
transmembrane domain 709 726 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000186154
AA Change: F68S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: F68S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 31 147 2.75e-1 SMART
IG_like 156 254 4.07e1 SMART
IGc2 269 337 2.68e-4 SMART
IGc2 365 424 4.52e-11 SMART
IG 448 523 1.21e-2 SMART
IGc2 541 599 6.75e-10 SMART
IGc2 628 687 2.68e-4 SMART
transmembrane domain 709 726 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187585
Predicted Effect probably damaging
Transcript: ENSMUST00000190617
AA Change: F68S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: F68S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 31 147 2.75e-1 SMART
IG_like 156 254 4.07e1 SMART
IGc2 269 337 2.68e-4 SMART
IGc2 365 424 4.52e-11 SMART
IG 448 523 1.21e-2 SMART
IGc2 541 599 6.75e-10 SMART
IGc2 628 687 2.68e-4 SMART
transmembrane domain 709 726 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190646
AA Change: F68S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: F68S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 31 147 1.1e-3 SMART
IG_like 166 245 1.6e-2 SMART
IGc2 269 337 1.1e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188157
AA Change: F68S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140450
Gene: ENSMUSG00000030577
AA Change: F68S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 31 147 1.1e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000189718
AA Change: F68S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: F68S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 31 147 2.75e-1 SMART
IG_like 156 254 4.07e1 SMART
IGc2 269 337 2.68e-4 SMART
IGc2 365 424 4.52e-11 SMART
IG 448 523 1.21e-2 SMART
IGc2 541 599 6.75e-10 SMART
IGc2 628 687 2.68e-4 SMART
transmembrane domain 709 726 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189996
Predicted Effect unknown
Transcript: ENSMUST00000214289
AA Change: F68S
Predicted Effect probably benign
Transcript: ENSMUST00000190753
Predicted Effect probably benign
Transcript: ENSMUST00000190455
Predicted Effect probably benign
Transcript: ENSMUST00000187989
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice have reduced mature B cell numbers with altered proliferation kinetics and reduced antibody production to T cell independent antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,731,946 (GRCm39) T2A unknown Het
Adgrf3 T A 5: 30,402,549 (GRCm39) Q493L probably benign Het
Ak6 T C 13: 100,792,177 (GRCm39) S207P probably benign Het
Ang A G 14: 51,338,937 (GRCm39) D26G probably benign Het
Ang T C 14: 51,338,957 (GRCm39) F33L probably damaging Het
Arhgef38 T A 3: 132,846,598 (GRCm39) Y389F probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Bicd2 C A 13: 49,531,786 (GRCm39) H343N probably benign Het
Casp4 G A 9: 5,308,919 (GRCm39) probably null Het
Cd46 T A 1: 194,760,117 (GRCm39) Q245L probably benign Het
Cntnap2 A T 6: 47,084,826 (GRCm39) R1096* probably null Het
Cntnap3 A G 13: 64,909,816 (GRCm39) V763A probably damaging Het
Cyp3a11 T C 5: 145,805,776 (GRCm39) T171A probably benign Het
Defa30 A G 8: 21,625,431 (GRCm39) Y65C probably damaging Het
Defb18 A T 1: 18,306,875 (GRCm39) M27K probably benign Het
Dnah17 A G 11: 117,923,424 (GRCm39) S4071P probably benign Het
Dnah7b T A 1: 46,230,943 (GRCm39) D1400E probably damaging Het
Dpysl5 C T 5: 30,935,338 (GRCm39) T147I probably benign Het
Dsg4 C T 18: 20,595,518 (GRCm39) R574* probably null Het
Entrep2 A T 7: 64,426,633 (GRCm39) probably null Het
Epm2a A G 10: 11,324,580 (GRCm39) E223G probably benign Het
Etl4 T C 2: 20,748,492 (GRCm39) S75P probably damaging Het
Fbxw15 T A 9: 109,386,204 (GRCm39) M312L probably benign Het
Fcgr4 C T 1: 170,847,672 (GRCm39) T90I probably damaging Het
Fras1 T A 5: 96,700,584 (GRCm39) D201E probably benign Het
Gadl1 A T 9: 115,835,576 (GRCm39) K335* probably null Het
Gcsam T G 16: 45,440,356 (GRCm39) V133G probably damaging Het
Gml G T 15: 74,685,665 (GRCm39) L107I possibly damaging Het
Golga2 T A 2: 32,192,909 (GRCm39) L409Q probably damaging Het
Gtf2a1l A T 17: 89,002,008 (GRCm39) Q241L probably benign Het
Gtf3c3 A G 1: 54,438,419 (GRCm39) Y799H probably damaging Het
Guca1b T G 17: 47,702,126 (GRCm39) probably benign Het
Igdcc4 C A 9: 65,034,179 (GRCm39) H617Q probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Itga2b A C 11: 102,351,603 (GRCm39) I574S probably benign Het
Kcnk7 A T 19: 5,756,859 (GRCm39) I283F probably damaging Het
Kirrel3 T A 9: 34,934,843 (GRCm39) L450M probably damaging Het
Lmntd1 A T 6: 145,365,600 (GRCm39) S176R probably damaging Het
Lrrc39 C T 3: 116,373,216 (GRCm39) T292I probably benign Het
Ltbp1 A T 17: 75,622,019 (GRCm39) H801L probably benign Het
Macf1 T A 4: 123,295,196 (GRCm39) Q3318L probably damaging Het
Man1b1 T A 2: 25,235,032 (GRCm39) N282K probably benign Het
Map2k6 A T 11: 110,388,727 (GRCm39) E223V probably damaging Het
Marf1 C A 16: 13,960,450 (GRCm39) R531S possibly damaging Het
Mfge8 G A 7: 78,792,191 (GRCm39) R245C probably damaging Het
Mogat1 T G 1: 78,514,681 (GRCm39) N318K probably benign Het
Myh4 T A 11: 67,141,135 (GRCm39) S732R possibly damaging Het
Myt1l T A 12: 29,861,537 (GRCm39) D106E unknown Het
Ndc1 T C 4: 107,241,992 (GRCm39) F302L probably damaging Het
Ndrg4 C T 8: 96,438,956 (GRCm39) A290V probably benign Het
Nfia A T 4: 97,951,365 (GRCm39) K397N probably damaging Het
Nlrp4e A T 7: 23,020,458 (GRCm39) Q315L possibly damaging Het
Oga C A 19: 45,740,613 (GRCm39) K907N probably benign Het
Or10p22 A C 10: 128,826,721 (GRCm39) *313C probably null Het
Or1ad8 T A 11: 50,898,679 (GRCm39) N293K probably damaging Het
Peg3 T C 7: 6,710,780 (GRCm39) I1481V possibly damaging Het
Phldb2 C T 16: 45,595,413 (GRCm39) G883D probably benign Het
Pik3c2b T A 1: 133,022,564 (GRCm39) Y1169N probably damaging Het
Plcl1 A T 1: 55,734,997 (GRCm39) I113F probably damaging Het
Pomt2 T C 12: 87,171,610 (GRCm39) I457V probably benign Het
Ppil1 T C 17: 29,480,809 (GRCm39) N38S possibly damaging Het
Prf1 A G 10: 61,136,231 (GRCm39) N169S probably benign Het
Prmt8 A C 6: 127,703,486 (GRCm39) probably null Het
Ptprg T A 14: 12,154,360 (GRCm38) S694T probably benign Het
Rab12 A T 17: 66,807,315 (GRCm39) M138K possibly damaging Het
Reln T C 5: 22,160,093 (GRCm39) T2159A probably damaging Het
Retsat A T 6: 72,583,063 (GRCm39) Y36F probably damaging Het
Rgs14 A T 13: 55,526,696 (GRCm39) Q116L probably damaging Het
Rlbp1 A T 7: 79,025,684 (GRCm39) N252K probably damaging Het
Rtraf A G 14: 19,862,242 (GRCm39) L215P probably damaging Het
Sec1 A T 7: 45,328,789 (GRCm39) M86K probably benign Het
Sec24b A T 3: 129,834,665 (GRCm39) S42T possibly damaging Het
Serpinb9d T C 13: 33,380,500 (GRCm39) S129P probably damaging Het
Slc35f5 T G 1: 125,512,269 (GRCm39) D356E possibly damaging Het
Smpd4 T C 16: 17,460,365 (GRCm39) S694P probably damaging Het
Spag6 G T 2: 18,750,420 (GRCm39) probably null Het
Spata31d1c T C 13: 65,181,030 (GRCm39) I43T possibly damaging Het
Ssh1 T C 5: 114,090,081 (GRCm39) D314G possibly damaging Het
Tnfrsf17 G A 16: 11,137,595 (GRCm39) D111N probably benign Het
Ttn A G 2: 76,553,635 (GRCm39) I30994T probably damaging Het
Ttn A T 2: 76,614,320 (GRCm39) F8737L probably damaging Het
Ush1c G T 7: 45,845,152 (GRCm39) F890L probably benign Het
Usp36 C T 11: 118,162,957 (GRCm39) probably null Het
Vmn2r115 T C 17: 23,566,795 (GRCm39) Y436H probably benign Het
Vmn2r94 T A 17: 18,477,635 (GRCm39) M259L probably benign Het
Wwp1 T C 4: 19,659,698 (GRCm39) T197A probably benign Het
Zbtb37 T A 1: 160,847,814 (GRCm39) M398L probably benign Het
Zfp804b C T 5: 6,819,673 (GRCm39) C1130Y probably benign Het
Zfp9 A G 6: 118,441,712 (GRCm39) C317R probably damaging Het
Zscan20 T C 4: 128,480,334 (GRCm39) H719R probably damaging Het
Other mutations in Cd22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Cd22 APN 7 30,575,572 (GRCm39) missense probably benign 0.01
IGL02236:Cd22 APN 7 30,566,893 (GRCm39) missense possibly damaging 0.54
IGL02321:Cd22 APN 7 30,569,308 (GRCm39) missense probably damaging 1.00
IGL02335:Cd22 APN 7 30,575,559 (GRCm39) missense probably damaging 1.00
IGL02397:Cd22 APN 7 30,577,050 (GRCm39) missense probably benign
IGL02402:Cd22 APN 7 30,576,955 (GRCm39) missense possibly damaging 0.86
IGL02538:Cd22 APN 7 30,576,985 (GRCm39) missense probably benign 0.40
IGL02736:Cd22 APN 7 30,577,470 (GRCm39) splice site probably null
blitz UTSW 7 30,569,329 (GRCm39) missense probably damaging 1.00
crullers UTSW 7 30,569,308 (GRCm39) missense probably damaging 1.00
gansu UTSW 7 30,569,530 (GRCm39) missense probably damaging 1.00
lacrima UTSW 7 30,575,578 (GRCm39) missense probably damaging 1.00
Lluvia UTSW 7 30,569,912 (GRCm39) missense possibly damaging 0.48
Mist UTSW 7 30,566,083 (GRCm39) missense probably damaging 1.00
rain UTSW 7 30,576,959 (GRCm39) missense probably damaging 1.00
well UTSW 7 30,577,212 (GRCm39) nonsense probably null
Yosemite UTSW 7 30,568,934 (GRCm39) critical splice donor site probably null
FR4304:Cd22 UTSW 7 30,577,507 (GRCm39) missense possibly damaging 0.95
FR4340:Cd22 UTSW 7 30,577,507 (GRCm39) missense possibly damaging 0.95
FR4342:Cd22 UTSW 7 30,577,507 (GRCm39) missense possibly damaging 0.95
FR4589:Cd22 UTSW 7 30,577,507 (GRCm39) missense possibly damaging 0.95
LCD18:Cd22 UTSW 7 30,577,507 (GRCm39) missense possibly damaging 0.95
PIT4142001:Cd22 UTSW 7 30,577,224 (GRCm39) missense possibly damaging 0.92
R0123:Cd22 UTSW 7 30,566,533 (GRCm39) splice site probably benign
R0130:Cd22 UTSW 7 30,569,389 (GRCm39) missense possibly damaging 0.92
R0926:Cd22 UTSW 7 30,568,934 (GRCm39) critical splice donor site probably null
R1245:Cd22 UTSW 7 30,569,308 (GRCm39) missense probably damaging 1.00
R1332:Cd22 UTSW 7 30,569,912 (GRCm39) missense possibly damaging 0.48
R1457:Cd22 UTSW 7 30,572,595 (GRCm39) missense probably benign 0.07
R1980:Cd22 UTSW 7 30,572,658 (GRCm39) missense probably damaging 1.00
R2017:Cd22 UTSW 7 30,572,205 (GRCm39) missense probably damaging 0.99
R2061:Cd22 UTSW 7 30,575,581 (GRCm39) missense probably benign 0.03
R2061:Cd22 UTSW 7 30,569,530 (GRCm39) missense probably damaging 1.00
R2075:Cd22 UTSW 7 30,569,123 (GRCm39) missense probably damaging 1.00
R2216:Cd22 UTSW 7 30,566,471 (GRCm39) missense probably damaging 1.00
R3886:Cd22 UTSW 7 30,569,532 (GRCm39) missense possibly damaging 0.57
R4599:Cd22 UTSW 7 30,575,325 (GRCm39) missense probably damaging 0.98
R4701:Cd22 UTSW 7 30,575,578 (GRCm39) missense probably damaging 1.00
R4796:Cd22 UTSW 7 30,572,381 (GRCm39) splice site probably null
R5179:Cd22 UTSW 7 30,575,299 (GRCm39) missense possibly damaging 0.81
R5233:Cd22 UTSW 7 30,576,959 (GRCm39) missense probably damaging 1.00
R5456:Cd22 UTSW 7 30,575,464 (GRCm39) missense probably benign 0.02
R5511:Cd22 UTSW 7 30,569,496 (GRCm39) missense probably damaging 1.00
R5513:Cd22 UTSW 7 30,566,450 (GRCm39) missense probably damaging 0.99
R5611:Cd22 UTSW 7 30,577,575 (GRCm39) unclassified probably benign
R5656:Cd22 UTSW 7 30,569,198 (GRCm39) missense probably damaging 1.00
R5966:Cd22 UTSW 7 30,566,083 (GRCm39) missense probably damaging 1.00
R6329:Cd22 UTSW 7 30,577,193 (GRCm39) missense probably damaging 0.99
R6356:Cd22 UTSW 7 30,577,127 (GRCm39) missense probably damaging 1.00
R6455:Cd22 UTSW 7 30,575,578 (GRCm39) missense probably damaging 1.00
R6550:Cd22 UTSW 7 30,576,977 (GRCm39) missense probably benign 0.00
R6656:Cd22 UTSW 7 30,577,182 (GRCm39) missense probably benign 0.11
R6688:Cd22 UTSW 7 30,572,389 (GRCm39) missense possibly damaging 0.91
R6844:Cd22 UTSW 7 30,572,856 (GRCm39) splice site probably null
R6957:Cd22 UTSW 7 30,566,999 (GRCm39) missense possibly damaging 0.88
R7068:Cd22 UTSW 7 30,577,504 (GRCm39) missense probably benign 0.03
R7083:Cd22 UTSW 7 30,567,473 (GRCm39) missense probably damaging 0.99
R7225:Cd22 UTSW 7 30,577,059 (GRCm39) missense not run
R7732:Cd22 UTSW 7 30,569,482 (GRCm39) missense probably damaging 1.00
R8686:Cd22 UTSW 7 30,569,494 (GRCm39) missense probably benign 0.03
R8851:Cd22 UTSW 7 30,577,084 (GRCm39) missense probably benign 0.01
R8987:Cd22 UTSW 7 30,577,172 (GRCm39) missense probably damaging 1.00
R9051:Cd22 UTSW 7 30,575,449 (GRCm39) missense probably benign
R9098:Cd22 UTSW 7 30,567,391 (GRCm39) missense probably benign 0.00
R9124:Cd22 UTSW 7 30,572,662 (GRCm39) missense probably benign 0.01
R9167:Cd22 UTSW 7 30,575,430 (GRCm39) missense probably benign 0.07
R9319:Cd22 UTSW 7 30,569,329 (GRCm39) missense probably damaging 1.00
R9369:Cd22 UTSW 7 30,576,999 (GRCm39) missense probably benign 0.09
X0025:Cd22 UTSW 7 30,572,844 (GRCm39) splice site probably null
Z1176:Cd22 UTSW 7 30,568,955 (GRCm39) missense probably damaging 1.00
Z1176:Cd22 UTSW 7 30,567,388 (GRCm39) missense probably benign 0.03
Z1186:Cd22 UTSW 7 30,566,891 (GRCm39) missense probably benign
Z1186:Cd22 UTSW 7 30,566,478 (GRCm39) missense probably benign 0.01
Z1186:Cd22 UTSW 7 30,575,292 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GAATGGGCTCCATCCATCGTTCAG -3'
(R):5'- CCAGAGTTGTGGCCTTTAGGACAC -3'

Sequencing Primer
(F):5'- GGTCATCCTCAACCCCAGATTC -3'
(R):5'- GCATCAGGATTCCTTGCAAG -3'
Posted On 2014-05-14