Incidental Mutation 'R4810:Cd33'
ID 370994
Institutional Source Beutler Lab
Gene Symbol Cd33
Ensembl Gene ENSMUSG00000004609
Gene Name CD33 molecule
Synonyms Siglec-3, gp67
MMRRC Submission 042429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4810 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43176823-43186679 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43182134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 104 (I104V)
Ref Sequence ENSEMBL: ENSMUSP00000146225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004728] [ENSMUST00000039861] [ENSMUST00000205503]
AlphaFold Q63994
Predicted Effect probably damaging
Transcript: ENSMUST00000004728
AA Change: I104V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004728
Gene: ENSMUSG00000004609
AA Change: I104V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 26 139 2.58e-6 SMART
IG_like 148 232 2.66e1 SMART
transmembrane domain 242 264 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000039861
AA Change: I104V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045458
Gene: ENSMUSG00000004609
AA Change: I104V

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
IG 26 139 2.58e-6 SMART
IG_like 148 232 2.66e1 SMART
transmembrane domain 242 264 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205503
AA Change: I104V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205687
Predicted Effect probably benign
Transcript: ENSMUST00000206371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206977
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 99% (93/94)
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene show slight reductions in mean erythrocyte count and hematocrit and increased concentration of blood aspartate aminotransaminase. There is also a hyporesponsiveness to induced peritonitis and a weaker IL-6 response to LPS-induced systemic inflammation. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,236,216 (GRCm39) V1189A possibly damaging Het
A3galt2 T C 4: 128,649,356 (GRCm39) probably null Het
Abca12 T C 1: 71,342,771 (GRCm39) D903G probably benign Het
Abcc12 T C 8: 87,287,471 (GRCm39) M125V probably damaging Het
Adad1 A G 3: 37,146,183 (GRCm39) N517S probably damaging Het
Ankrd44 A G 1: 54,774,302 (GRCm39) probably benign Het
Armc7 A G 11: 115,379,787 (GRCm39) I162V probably benign Het
Art3 T A 5: 92,562,108 (GRCm39) V343D possibly damaging Het
Bcl9l A G 9: 44,419,650 (GRCm39) T1106A probably damaging Het
Ccdc141 T C 2: 76,876,099 (GRCm39) N644D possibly damaging Het
Ccdc154 T C 17: 25,382,472 (GRCm39) L98S probably damaging Het
Ccne1 A G 7: 37,799,018 (GRCm39) W237R probably damaging Het
Ceacam1 A T 7: 25,173,945 (GRCm39) *237K probably null Het
Ces1e T A 8: 93,935,259 (GRCm39) I398F probably benign Het
Cfap44 T C 16: 44,271,898 (GRCm39) I1217T probably damaging Het
Clns1a T C 7: 97,363,224 (GRCm39) S199P probably benign Het
Cntn4 C A 6: 106,632,572 (GRCm39) T532K probably benign Het
Col11a2 C T 17: 34,276,086 (GRCm39) S470L probably damaging Het
Cst5 A T 2: 149,247,463 (GRCm39) R60* probably null Het
Cxcr6 A T 9: 123,639,227 (GRCm39) D83V probably damaging Het
Dis3l2 T C 1: 86,975,296 (GRCm39) V774A probably damaging Het
Dusp15 A G 2: 152,787,374 (GRCm39) L79P probably damaging Het
Elapor1 T A 3: 108,377,327 (GRCm39) probably benign Het
Eml6 A T 11: 29,705,011 (GRCm39) V1511E possibly damaging Het
Epha5 C T 5: 84,253,750 (GRCm39) D548N possibly damaging Het
Fam227b A G 2: 125,829,859 (GRCm39) F450L probably benign Het
Fam91a1 T A 15: 58,306,589 (GRCm39) L452Q probably damaging Het
Fbxo44 T C 4: 148,240,903 (GRCm39) Y199C probably damaging Het
Fgd3 A G 13: 49,443,126 (GRCm39) S149P probably benign Het
Gabra4 T C 5: 71,781,325 (GRCm39) E362G probably damaging Het
Galnt14 T C 17: 73,819,116 (GRCm39) I325V probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm10088 G T 16: 18,847,081 (GRCm39) noncoding transcript Het
Grik5 T C 7: 24,714,922 (GRCm39) N691D probably damaging Het
Grm1 C G 10: 10,658,438 (GRCm39) D351H probably damaging Het
Grm8 T C 6: 27,761,295 (GRCm39) S310G possibly damaging Het
Gtf2h2 A G 13: 100,617,510 (GRCm39) probably null Het
Hhex G T 19: 37,428,103 (GRCm39) L49F probably damaging Het
Hkdc1 T A 10: 62,247,304 (GRCm39) R159S probably benign Het
Iqcm A G 8: 76,615,281 (GRCm39) Y454C probably damaging Het
Kcnh8 G A 17: 53,212,248 (GRCm39) probably null Het
Larp4b A G 13: 9,208,627 (GRCm39) T427A probably benign Het
Mtmr3 A T 11: 4,448,046 (GRCm39) N297K probably benign Het
Nek8 G A 11: 78,058,629 (GRCm39) T557I probably benign Het
Nlrp9c A C 7: 26,077,602 (GRCm39) probably null Het
Nmrk1 T A 19: 18,617,273 (GRCm39) D48E probably benign Het
Npepps G A 11: 97,131,759 (GRCm39) T365I probably damaging Het
Obscn G A 11: 58,922,417 (GRCm39) T5921M possibly damaging Het
Or8b44 C A 9: 38,410,620 (GRCm39) Y218* probably null Het
Or8c9 A G 9: 38,241,690 (GRCm39) E269G probably benign Het
Otud7b C T 3: 96,043,918 (GRCm39) A23V probably damaging Het
Pcdhga9 G A 18: 37,871,601 (GRCm39) A477T possibly damaging Het
Plekha7 A T 7: 115,744,173 (GRCm39) I663N probably damaging Het
Plscr1l1 A G 9: 92,236,683 (GRCm39) D190G probably damaging Het
Polk A T 13: 96,620,003 (GRCm39) S732R possibly damaging Het
Ppfia2 A G 10: 106,751,551 (GRCm39) I1166V probably benign Het
Ppp2r5a C T 1: 191,088,589 (GRCm39) probably benign Het
Prkaa2 T C 4: 104,897,011 (GRCm39) K401E probably damaging Het
Ptpn23 A G 9: 110,218,204 (GRCm39) Y611H possibly damaging Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,507,406 (GRCm39) C443S probably damaging Het
Ralgapa1 A G 12: 55,841,778 (GRCm39) probably null Het
Rev3l T C 10: 39,699,721 (GRCm39) L1406P probably benign Het
Rnaset2b T A 17: 7,259,167 (GRCm39) D48E probably benign Het
Rnf13 G T 3: 57,703,693 (GRCm39) M105I probably damaging Het
Rnf150 T C 8: 83,716,991 (GRCm39) V166A possibly damaging Het
Rps6kc1 C A 1: 190,541,160 (GRCm39) R381L probably damaging Het
Rspo2 C T 15: 43,033,216 (GRCm39) R2H probably benign Het
Septin8 A G 11: 53,425,416 (GRCm39) D103G probably damaging Het
Sirt4 A G 5: 115,618,508 (GRCm39) W189R probably damaging Het
Slco6d1 T C 1: 98,350,979 (GRCm39) V110A possibly damaging Het
Sncaip C A 18: 53,040,271 (GRCm39) Q822K possibly damaging Het
Spg11 A C 2: 121,890,277 (GRCm39) F2070V probably damaging Het
Sptb A T 12: 76,669,971 (GRCm39) Y452* probably null Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tead1 C A 7: 112,441,073 (GRCm39) probably null Het
Tmem156 G T 5: 65,248,790 (GRCm39) probably benign Het
Tmem169 A G 1: 72,337,311 (GRCm39) D82G probably benign Het
Tmem260 A G 14: 48,709,930 (GRCm39) E51G probably damaging Het
Trim36 G T 18: 46,305,536 (GRCm39) N470K probably benign Het
Trps1 T A 15: 50,685,692 (GRCm39) T158S probably benign Het
Ube2c A G 2: 164,614,482 (GRCm39) *180W probably null Het
Ube2i T C 17: 25,484,121 (GRCm39) D45G probably benign Het
Uggt2 A C 14: 119,250,933 (GRCm39) L1188R probably damaging Het
Uroc1 T C 6: 90,340,135 (GRCm39) I680T probably damaging Het
Vmn2r2 T A 3: 64,044,883 (GRCm39) M88L probably damaging Het
Zfp248 G A 6: 118,406,807 (GRCm39) R261C possibly damaging Het
Zfp418 G T 7: 7,185,846 (GRCm39) R603L possibly damaging Het
Zmpste24 T A 4: 120,918,251 (GRCm39) Y457F probably damaging Het
Other mutations in Cd33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Cd33 APN 7 43,178,982 (GRCm39) intron probably benign
IGL01025:Cd33 APN 7 43,182,329 (GRCm39) missense probably damaging 1.00
IGL01593:Cd33 APN 7 43,179,705 (GRCm39) missense possibly damaging 0.91
IGL02080:Cd33 APN 7 43,178,274 (GRCm39) utr 3 prime probably benign
IGL02519:Cd33 APN 7 43,178,153 (GRCm39) utr 3 prime probably benign
IGL02626:Cd33 APN 7 43,179,736 (GRCm39) splice site probably benign
1mM(1):Cd33 UTSW 7 43,178,217 (GRCm39) utr 3 prime probably benign
R0751:Cd33 UTSW 7 43,181,545 (GRCm39) missense probably damaging 1.00
R1513:Cd33 UTSW 7 43,181,618 (GRCm39) missense probably damaging 1.00
R1542:Cd33 UTSW 7 43,181,530 (GRCm39) missense probably damaging 1.00
R1752:Cd33 UTSW 7 43,181,722 (GRCm39) missense probably benign 0.24
R1928:Cd33 UTSW 7 43,179,303 (GRCm39) missense probably benign 0.41
R2045:Cd33 UTSW 7 43,179,316 (GRCm39) missense probably benign 0.00
R2127:Cd33 UTSW 7 43,179,699 (GRCm39) missense possibly damaging 0.72
R3433:Cd33 UTSW 7 43,179,331 (GRCm39) missense probably benign 0.00
R4760:Cd33 UTSW 7 43,178,919 (GRCm39) missense probably benign
R5387:Cd33 UTSW 7 43,181,477 (GRCm39) nonsense probably null
R5611:Cd33 UTSW 7 43,181,542 (GRCm39) missense probably damaging 0.97
R5796:Cd33 UTSW 7 43,182,480 (GRCm39) critical splice donor site probably null
R8021:Cd33 UTSW 7 43,178,262 (GRCm39) missense unknown
R8193:Cd33 UTSW 7 43,181,696 (GRCm39) missense possibly damaging 0.96
R8993:Cd33 UTSW 7 43,182,871 (GRCm39) unclassified probably benign
R9495:Cd33 UTSW 7 43,182,150 (GRCm39) missense probably benign 0.09
R9514:Cd33 UTSW 7 43,182,150 (GRCm39) missense probably benign 0.09
R9590:Cd33 UTSW 7 43,179,637 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCAAGGATGAGGTACAAGTCTTC -3'
(R):5'- ATGTGCCCTGCAGTGTTTTC -3'

Sequencing Primer
(F):5'- GGATGAGGTACAAGTCTTCCAACAC -3'
(R):5'- GCAGTGTTTTCTACCCCTCCATTAAG -3'
Posted On 2016-02-04