Incidental Mutation 'R5656:Cd22'
ID 501230
Institutional Source Beutler Lab
Gene Symbol Cd22
Ensembl Gene ENSMUSG00000030577
Gene Name CD22 antigen
Synonyms Lyb-8, Lyb8
MMRRC Submission 043302-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5656 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 30865402-30880342 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 30869773 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 612 (Y612S)
Ref Sequence ENSEMBL: ENSMUSP00000139871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019248] [ENSMUST00000108125] [ENSMUST00000186154] [ENSMUST00000187989] [ENSMUST00000189718] [ENSMUST00000190617] [ENSMUST00000190646] [ENSMUST00000214289]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019248
AA Change: Y612S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: Y612S

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: Y612S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: Y612S

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: Y612S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: Y612S

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 benign
Transcript: ENSMUST00000187989
Predicted Effect probably damaging
Transcript: ENSMUST00000189718
AA Change: Y612S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: Y612S

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: ENSMUST00000189996
Predicted Effect probably benign
Transcript: ENSMUST00000190455
Predicted Effect probably damaging
Transcript: ENSMUST00000190617
AA Change: Y612S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: Y612S

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 benign
Transcript: ENSMUST00000190646
SMART Domains Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577

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 possibly damaging
Transcript: ENSMUST00000214289
AA Change: Y438S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 105,709,512 (GRCm38) S139G probably benign Het
Adrb3 T C 8: 27,227,377 (GRCm38) D348G probably damaging Het
Atg2b A G 12: 105,621,328 (GRCm38) V1959A probably benign Het
Bicral G A 17: 46,808,369 (GRCm38) T742M probably damaging Het
Bub1b T A 2: 118,605,431 (GRCm38) I60N probably damaging Het
Ccdc162 A G 10: 41,569,934 (GRCm38) V414A probably benign Het
Cd68 T A 11: 69,664,421 (GRCm38) I320F probably damaging Het
Clca3a2 A T 3: 144,797,632 (GRCm38) N852K probably benign Het
Cpa6 T A 1: 10,329,514 (GRCm38) H363L probably benign Het
Ddx18 A T 1: 121,561,358 (GRCm38) L320Q probably damaging Het
Dnah5 A G 15: 28,421,064 (GRCm38) D3849G probably benign Het
Eci1 T A 17: 24,437,309 (GRCm38) N164K probably damaging Het
Efs T C 14: 54,917,127 (GRCm38) T552A probably damaging Het
Fbp1 C A 13: 62,875,196 (GRCm38) V96L probably damaging Het
Gtf3c1 T A 7: 125,662,654 (GRCm38) N1139I probably benign Het
Gucy1b2 T C 14: 62,422,981 (GRCm38) Y152C probably damaging Het
Gxylt1 A T 15: 93,245,661 (GRCm38) L362Q probably damaging Het
Iqcd A G 5: 120,605,126 (GRCm38) probably null Het
Klhl41 T A 2: 69,683,532 (GRCm38) I585N possibly damaging Het
Map6 A G 7: 99,336,298 (GRCm38) K470E probably damaging Het
Mast3 T C 8: 70,786,221 (GRCm38) T496A probably damaging Het
Mbd6 A T 10: 127,285,286 (GRCm38) probably benign Het
Melk A G 4: 44,312,237 (GRCm38) K183R possibly damaging Het
Mta1 T C 12: 113,123,139 (GRCm38) V152A probably damaging Het
Naa35 G A 13: 59,622,866 (GRCm38) probably benign Het
Nav3 A C 10: 109,764,633 (GRCm38) S1378A probably damaging Het
Ncapd3 T A 9: 27,051,645 (GRCm38) D415E possibly damaging Het
Nlrp4f G A 13: 65,190,871 (GRCm38) R651* probably null Het
Olfr1480 A G 19: 13,530,380 (GRCm38) T280A probably benign Het
Olfr397 T A 11: 73,964,710 (GRCm38) M34K probably damaging Het
Olfr497 A G 7: 108,422,618 (GRCm38) I16V probably benign Het
P2rx7 A T 5: 122,673,717 (GRCm38) R364W probably damaging Het
Phactr2 T C 10: 13,388,703 (GRCm38) D2G probably benign Het
Phc3 G T 3: 30,965,866 (GRCm38) S28R probably damaging Het
Ppfia1 A T 7: 144,519,974 (GRCm38) probably null Het
Prdm10 C T 9: 31,353,417 (GRCm38) T667M probably benign Het
Pwwp2b T A 7: 139,255,971 (GRCm38) S443T possibly damaging Het
Pzp T C 6: 128,490,072 (GRCm38) T1113A probably damaging Het
Rapgef6 A G 11: 54,636,136 (GRCm38) E551G possibly damaging Het
Sec23ip A G 7: 128,776,784 (GRCm38) Y774C probably damaging Het
Setdb2 T C 14: 59,419,118 (GRCm38) D266G probably damaging Het
Shank1 T C 7: 44,352,886 (GRCm38) V1343A probably benign Het
Slf2 T A 19: 44,973,235 (GRCm38) D1064E probably benign Het
Slu7 A G 11: 43,443,418 (GRCm38) K424E probably benign Het
Smg1 A T 7: 118,154,664 (GRCm38) probably benign Het
Sptlc2 A T 12: 87,346,761 (GRCm38) L264Q probably damaging Het
Sra1 A G 18: 36,678,407 (GRCm38) S93P probably damaging Het
Sult1c1 T C 17: 53,964,652 (GRCm38) E169G probably benign Het
Sv2a A G 3: 96,185,572 (GRCm38) D196G probably damaging Het
Tbc1d22b A G 17: 29,594,780 (GRCm38) I362M probably damaging Het
Tenm3 T C 8: 48,228,762 (GRCm38) D2611G probably damaging Het
Tmem43 T C 6: 91,480,708 (GRCm38) F191L probably benign Het
Trbv13-2 T A 6: 41,121,694 (GRCm38) Y68N probably benign Het
Ttn T G 2: 76,774,654 (GRCm38) D18312A possibly damaging Het
Ublcp1 A G 11: 44,465,606 (GRCm38) V95A probably damaging Het
Usp17ld A G 7: 103,250,840 (GRCm38) V295A probably damaging Het
Vmn1r29 T A 6: 58,308,167 (GRCm38) L291M possibly damaging Het
Vsig10l C T 7: 43,464,151 (GRCm38) R176* probably null Het
Zbtb46 A G 2: 181,423,417 (GRCm38) probably null Het
Zfp644 A G 5: 106,637,982 (GRCm38) V233A probably benign Het
Other mutations in Cd22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00714:Cd22 APN 7 30,876,147 (GRCm38) missense probably benign 0.01
IGL02236:Cd22 APN 7 30,867,468 (GRCm38) missense possibly damaging 0.54
IGL02321:Cd22 APN 7 30,869,883 (GRCm38) missense probably damaging 1.00
IGL02335:Cd22 APN 7 30,876,134 (GRCm38) missense probably damaging 1.00
IGL02397:Cd22 APN 7 30,877,625 (GRCm38) missense probably benign
IGL02402:Cd22 APN 7 30,877,530 (GRCm38) missense possibly damaging 0.86
IGL02538:Cd22 APN 7 30,877,560 (GRCm38) missense probably benign 0.40
IGL02736:Cd22 APN 7 30,878,045 (GRCm38) splice site probably null
blitz UTSW 7 30,869,904 (GRCm38) missense probably damaging 1.00
crullers UTSW 7 30,869,883 (GRCm38) missense probably damaging 1.00
gansu UTSW 7 30,870,105 (GRCm38) missense probably damaging 1.00
lacrima UTSW 7 30,876,153 (GRCm38) missense probably damaging 1.00
Lluvia UTSW 7 30,870,487 (GRCm38) missense possibly damaging 0.48
Mist UTSW 7 30,866,658 (GRCm38) missense probably damaging 1.00
rain UTSW 7 30,877,534 (GRCm38) missense probably damaging 1.00
well UTSW 7 30,877,787 (GRCm38) nonsense probably null
Yosemite UTSW 7 30,869,509 (GRCm38) critical splice donor site probably null
FR4304:Cd22 UTSW 7 30,878,082 (GRCm38) missense possibly damaging 0.95
FR4340:Cd22 UTSW 7 30,878,082 (GRCm38) missense possibly damaging 0.95
FR4342:Cd22 UTSW 7 30,878,082 (GRCm38) missense possibly damaging 0.95
FR4589:Cd22 UTSW 7 30,878,082 (GRCm38) missense possibly damaging 0.95
LCD18:Cd22 UTSW 7 30,878,082 (GRCm38) missense possibly damaging 0.95
PIT4142001:Cd22 UTSW 7 30,877,799 (GRCm38) missense possibly damaging 0.92
R0123:Cd22 UTSW 7 30,867,108 (GRCm38) splice site probably benign
R0130:Cd22 UTSW 7 30,869,964 (GRCm38) missense possibly damaging 0.92
R0926:Cd22 UTSW 7 30,869,509 (GRCm38) critical splice donor site probably null
R1245:Cd22 UTSW 7 30,869,883 (GRCm38) missense probably damaging 1.00
R1332:Cd22 UTSW 7 30,870,487 (GRCm38) missense possibly damaging 0.48
R1457:Cd22 UTSW 7 30,873,170 (GRCm38) missense probably benign 0.07
R1716:Cd22 UTSW 7 30,877,678 (GRCm38) missense probably damaging 1.00
R1980:Cd22 UTSW 7 30,873,233 (GRCm38) missense probably damaging 1.00
R2017:Cd22 UTSW 7 30,872,780 (GRCm38) missense probably damaging 0.99
R2061:Cd22 UTSW 7 30,876,156 (GRCm38) missense probably benign 0.03
R2061:Cd22 UTSW 7 30,870,105 (GRCm38) missense probably damaging 1.00
R2075:Cd22 UTSW 7 30,869,698 (GRCm38) missense probably damaging 1.00
R2216:Cd22 UTSW 7 30,867,046 (GRCm38) missense probably damaging 1.00
R3886:Cd22 UTSW 7 30,870,107 (GRCm38) missense possibly damaging 0.57
R4599:Cd22 UTSW 7 30,875,900 (GRCm38) missense probably damaging 0.98
R4701:Cd22 UTSW 7 30,876,153 (GRCm38) missense probably damaging 1.00
R4796:Cd22 UTSW 7 30,872,956 (GRCm38) splice site probably null
R5179:Cd22 UTSW 7 30,875,874 (GRCm38) missense possibly damaging 0.81
R5233:Cd22 UTSW 7 30,877,534 (GRCm38) missense probably damaging 1.00
R5456:Cd22 UTSW 7 30,876,039 (GRCm38) missense probably benign 0.02
R5511:Cd22 UTSW 7 30,870,071 (GRCm38) missense probably damaging 1.00
R5513:Cd22 UTSW 7 30,867,025 (GRCm38) missense probably damaging 0.99
R5611:Cd22 UTSW 7 30,878,150 (GRCm38) unclassified probably benign
R5966:Cd22 UTSW 7 30,866,658 (GRCm38) missense probably damaging 1.00
R6329:Cd22 UTSW 7 30,877,768 (GRCm38) missense probably damaging 0.99
R6356:Cd22 UTSW 7 30,877,702 (GRCm38) missense probably damaging 1.00
R6455:Cd22 UTSW 7 30,876,153 (GRCm38) missense probably damaging 1.00
R6550:Cd22 UTSW 7 30,877,552 (GRCm38) missense probably benign 0.00
R6656:Cd22 UTSW 7 30,877,757 (GRCm38) missense probably benign 0.11
R6688:Cd22 UTSW 7 30,872,964 (GRCm38) missense possibly damaging 0.91
R6844:Cd22 UTSW 7 30,873,431 (GRCm38) splice site probably null
R6957:Cd22 UTSW 7 30,867,574 (GRCm38) missense possibly damaging 0.88
R7068:Cd22 UTSW 7 30,878,079 (GRCm38) missense probably benign 0.03
R7083:Cd22 UTSW 7 30,868,048 (GRCm38) missense probably damaging 0.99
R7225:Cd22 UTSW 7 30,877,634 (GRCm38) missense not run
R7732:Cd22 UTSW 7 30,870,057 (GRCm38) missense probably damaging 1.00
R8686:Cd22 UTSW 7 30,870,069 (GRCm38) missense probably benign 0.03
R8851:Cd22 UTSW 7 30,877,659 (GRCm38) missense probably benign 0.01
R8987:Cd22 UTSW 7 30,877,747 (GRCm38) missense probably damaging 1.00
R9051:Cd22 UTSW 7 30,876,024 (GRCm38) missense probably benign
R9098:Cd22 UTSW 7 30,867,966 (GRCm38) missense probably benign 0.00
R9124:Cd22 UTSW 7 30,873,237 (GRCm38) missense probably benign 0.01
R9167:Cd22 UTSW 7 30,876,005 (GRCm38) missense probably benign 0.07
R9319:Cd22 UTSW 7 30,869,904 (GRCm38) missense probably damaging 1.00
R9369:Cd22 UTSW 7 30,877,574 (GRCm38) missense probably benign 0.09
X0025:Cd22 UTSW 7 30,873,419 (GRCm38) splice site probably null
Z1176:Cd22 UTSW 7 30,869,530 (GRCm38) missense probably damaging 1.00
Z1176:Cd22 UTSW 7 30,867,963 (GRCm38) missense probably benign 0.03
Z1186:Cd22 UTSW 7 30,867,466 (GRCm38) missense probably benign
Z1186:Cd22 UTSW 7 30,867,053 (GRCm38) missense probably benign 0.01
Z1186:Cd22 UTSW 7 30,875,867 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GGTTCCAGTCTCAGTTTCTGGC -3'
(R):5'- TTCTGGAAGAAGAATGGGAGTCTC -3'

Sequencing Primer
(F):5'- CAGTTTCTGGCCTGAGGAG -3'
(R):5'- AGGGAGGTACCTGAGCTTC -3'
Posted On 2017-12-01