Incidental Mutation 'R6329:Cd22'
ID 509392
Institutional Source Beutler Lab
Gene Symbol Cd22
Ensembl Gene ENSMUSG00000030577
Gene Name CD22 antigen
Synonyms Lyb8, Lyb-8
MMRRC Submission 044483-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6329 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30564829-30579767 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30577193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 38 (E38V)
Ref Sequence ENSEMBL: ENSMUSP00000140528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019248] [ENSMUST00000108125] [ENSMUST00000186154] [ENSMUST00000188157] [ENSMUST00000189718] [ENSMUST00000190617] [ENSMUST00000190646] [ENSMUST00000190753] [ENSMUST00000214289] [ENSMUST00000187989]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019248
AA Change: E38V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019248
Gene: ENSMUSG00000030577
AA Change: E38V

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: E38V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103760
Gene: ENSMUSG00000030577
AA Change: E38V

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: E38V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139685
Gene: ENSMUSG00000030577
AA Change: E38V

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: ENSMUST00000188157
AA Change: E38V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140450
Gene: ENSMUSG00000030577
AA Change: E38V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 31 147 1.1e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000189718
AA Change: E38V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140521
Gene: ENSMUSG00000030577
AA Change: E38V

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: ENSMUST00000190617
AA Change: E38V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139871
Gene: ENSMUSG00000030577
AA Change: E38V

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: E38V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140528
Gene: ENSMUSG00000030577
AA Change: E38V

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: ENSMUST00000190753
AA Change: E38V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect unknown
Transcript: ENSMUST00000214289
AA Change: E38V
Predicted Effect probably benign
Transcript: ENSMUST00000187989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189996
Predicted Effect probably benign
Transcript: ENSMUST00000190455
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,879,457 (GRCm39) H72R probably damaging Het
Abca13 A T 11: 9,227,937 (GRCm39) N660I probably damaging Het
Actr8 C T 14: 29,715,041 (GRCm39) R619* probably null Het
Adam18 C A 8: 25,104,843 (GRCm39) G657V probably damaging Het
Adcyap1 A G 17: 93,510,227 (GRCm39) E85G probably benign Het
Akr1c14 A G 13: 4,137,302 (GRCm39) Y305C probably damaging Het
Ankdd1b T A 13: 96,591,388 (GRCm39) H37L possibly damaging Het
Ap4e1 T C 2: 126,903,636 (GRCm39) L846P probably benign Het
Aqp9 A T 9: 71,039,966 (GRCm39) Y105* probably null Het
Arid1b C T 17: 5,387,538 (GRCm39) Q1664* probably null Het
Aup1 A G 6: 83,031,588 (GRCm39) probably benign Het
Bnip1 C A 17: 27,005,684 (GRCm39) S64* probably null Het
Calcr T A 6: 3,687,621 (GRCm39) Q422L probably damaging Het
Ccdc162 T A 10: 41,539,147 (GRCm39) D407V possibly damaging Het
Ccdc66 G T 14: 27,208,441 (GRCm39) S760R probably benign Het
Cggbp1 T C 16: 64,676,383 (GRCm39) Y150H probably damaging Het
Chd3 T C 11: 69,252,510 (GRCm39) K263R possibly damaging Het
Col4a2 T A 8: 11,496,238 (GRCm39) F1620I probably damaging Het
Col6a2 T C 10: 76,435,662 (GRCm39) T858A probably benign Het
Dnah7a T A 1: 53,580,273 (GRCm39) D1554V probably damaging Het
Dnajc25 A T 4: 59,013,678 (GRCm39) Q132L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Ehbp1l1 A C 19: 5,768,795 (GRCm39) I836S possibly damaging Het
Elf1 A G 14: 79,810,779 (GRCm39) Q288R possibly damaging Het
Fbn1 C A 2: 125,150,393 (GRCm39) V2608L possibly damaging Het
Frmpd1 T C 4: 45,268,551 (GRCm39) I232T possibly damaging Het
Fuca1 T A 4: 135,662,137 (GRCm39) I355N probably damaging Het
Gcnt4 A G 13: 97,083,781 (GRCm39) D359G probably damaging Het
Gm5134 T C 10: 75,790,494 (GRCm39) M30T possibly damaging Het
Grk1 T G 8: 13,455,704 (GRCm39) L196R probably damaging Het
Igkv14-126 A C 6: 67,873,548 (GRCm39) D92A probably damaging Het
Kmt2c A G 5: 25,520,600 (GRCm39) S1837P probably benign Het
Lhx4 T A 1: 155,578,300 (GRCm39) T281S probably benign Het
Lrrc55 G T 2: 85,026,653 (GRCm39) H124N probably benign Het
Marchf8 T A 6: 116,383,277 (GRCm39) I566N possibly damaging Het
Mycbp2 G A 14: 103,393,288 (GRCm39) A3091V probably benign Het
Nlrp4b A G 7: 10,458,847 (GRCm39) N355S probably benign Het
Nmur2 A G 11: 55,920,411 (GRCm39) V278A probably benign Het
Nod1 T C 6: 54,921,689 (GRCm39) M210V probably benign Het
Nt5c1b T A 12: 10,422,138 (GRCm39) C63* probably null Het
Or1e1f A G 11: 73,855,568 (GRCm39) I45V possibly damaging Het
Or1j17 A T 2: 36,578,694 (GRCm39) K227* probably null Het
Or4g7 C T 2: 111,309,573 (GRCm39) A148V possibly damaging Het
Or5d37 G A 2: 87,924,008 (GRCm39) P91S probably damaging Het
Or7g21 A C 9: 19,032,253 (GRCm39) M1L probably benign Het
Or8b37 T C 9: 37,959,121 (GRCm39) V201A probably benign Het
Or8g24 C T 9: 38,989,199 (GRCm39) V281I probably benign Het
Osbp2 T A 11: 3,665,153 (GRCm39) S517C probably damaging Het
Pcdha1 C T 18: 37,065,301 (GRCm39) P655L probably damaging Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Perp G A 10: 18,731,502 (GRCm39) G154S probably damaging Het
Perp G T 10: 18,731,503 (GRCm39) G154V probably damaging Het
Pira13 T C 7: 3,825,850 (GRCm39) T340A probably damaging Het
Prokr1 T G 6: 87,558,774 (GRCm39) T204P possibly damaging Het
Prpf3 A T 3: 95,739,890 (GRCm39) C630S probably damaging Het
Pter C A 2: 12,985,359 (GRCm39) H230N probably damaging Het
Ptprs A T 17: 56,724,427 (GRCm39) Y1167* probably null Het
Rad54l2 T C 9: 106,595,121 (GRCm39) I279V possibly damaging Het
Rora T A 9: 69,280,468 (GRCm39) L347Q probably damaging Het
Runx1t1 T G 4: 13,785,136 (GRCm39) M1R probably null Het
Sdcbp A G 4: 6,381,064 (GRCm39) S70G probably benign Het
Serpinb12 A G 1: 106,881,493 (GRCm39) Y210C probably damaging Het
Sipa1 T C 19: 5,701,517 (GRCm39) E1015G probably damaging Het
Slc15a2 A C 16: 36,572,144 (GRCm39) L740R possibly damaging Het
Specc1 A G 11: 62,047,379 (GRCm39) E916G probably damaging Het
Spta1 T C 1: 174,041,743 (GRCm39) I1371T possibly damaging Het
Tagln3 T C 16: 45,533,365 (GRCm39) M130V probably benign Het
Tchh A T 3: 93,353,752 (GRCm39) E1064V unknown Het
Tdp1 A T 12: 99,880,330 (GRCm39) S464C probably damaging Het
Tdp1 G C 12: 99,880,331 (GRCm39) S464T probably benign Het
Tenm3 T C 8: 48,729,884 (GRCm39) Y1374C probably damaging Het
Tmprss3 A T 17: 31,402,833 (GRCm39) Y455* probably null Het
Ttc5 A G 14: 51,003,385 (GRCm39) V433A possibly damaging Het
Wnt5a A T 14: 28,240,449 (GRCm39) R180* probably null Het
Zfp53 A G 17: 21,728,372 (GRCm39) D135G probably benign Het
Zfp619 T A 7: 39,186,969 (GRCm39) C1000S probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
R1716:Cd22 UTSW 7 30,577,103 (GRCm39) missense probably damaging 1.00
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
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'- CACGTATCGGGTGGATTTTCAG -3'
(R):5'- GAGATTCTGTGCTCCTGCTC -3'

Sequencing Primer
(F):5'- CCTTGCTTAGAAAGGTACAGCTCAG -3'
(R):5'- CCACCGTGTGTCTCCCCAG -3'
Posted On 2018-04-02