Incidental Mutation 'R6103:Cd209d'
ID485381
Institutional Source Beutler Lab
Gene Symbol Cd209d
Ensembl Gene ENSMUSG00000031495
Gene NameCD209d antigen
SynonymsSIGN-R3, mSIGNR3, SIGNR3
MMRRC Submission 044253-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6103 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location3871824-3878555 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3878304 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 27 (Y27C)
Ref Sequence ENSEMBL: ENSMUSP00000147198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011445] [ENSMUST00000209176]
Predicted Effect probably damaging
Transcript: ENSMUST00000011445
AA Change: Y27C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000011445
Gene: ENSMUSG00000031495
AA Change: Y27C

DomainStartEndE-ValueType
low complexity region 54 74 N/A INTRINSIC
CLECT 106 227 2.34e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209176
AA Change: Y27C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 95.0%
Validation Efficiency 100% (55/55)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to bacterial infection despite decreased T and B cell proliferation and extramedullary hematopoiesis in the spleen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F05Rik A T 10: 43,532,920 Y76N probably benign Het
Abcc8 A G 7: 46,119,021 S926P possibly damaging Het
Acacb T A 5: 114,245,881 M2157K probably damaging Het
Aco2 T C 15: 81,913,251 V636A probably benign Het
Adgrf3 T C 5: 30,196,267 Y51C probably damaging Het
Adprhl1 T C 8: 13,222,055 T1568A possibly damaging Het
Ank1 T A 8: 23,113,983 S937T probably damaging Het
Ankrd50 T C 3: 38,454,429 E340G probably damaging Het
Avpr1b C T 1: 131,609,417 P90S probably damaging Het
Cacna2d3 T C 14: 29,396,489 H159R probably damaging Het
Carmil3 A T 14: 55,505,427 T1185S probably benign Het
Casp2 A T 6: 42,279,880 R357S probably damaging Het
Ccdc34 A G 2: 110,018,007 D47G probably benign Het
Cd109 A G 9: 78,698,314 probably null Het
Cep350 T A 1: 155,924,576 D1176V probably benign Het
Cpd A T 11: 76,799,799 S844T probably benign Het
Cyp4x1 A G 4: 115,111,667 L380P probably damaging Het
Dscam A G 16: 96,825,581 V376A probably benign Het
Enam T A 5: 88,502,328 N565K probably damaging Het
Fam110c G A 12: 31,074,795 W252* probably null Het
Fbxo6 A T 4: 148,149,522 I39N probably damaging Het
Fgb T C 3: 83,043,863 D281G probably benign Het
Frem2 T A 3: 53,549,788 T2048S probably benign Het
Fut8 A T 12: 77,331,947 probably benign Het
Glmp T C 3: 88,328,031 S238P probably benign Het
Gm35315 T A 5: 110,078,271 Y434F probably damaging Het
Gnpnat1 A G 14: 45,383,399 F71S probably damaging Het
Gpnmb A G 6: 49,042,886 R64G possibly damaging Het
Grxcr1 T C 5: 68,166,204 F275S possibly damaging Het
Ift140 T A 17: 25,093,126 C1314S probably damaging Het
Kif9 T C 9: 110,489,849 I127T possibly damaging Het
Mmd2 A G 5: 142,567,863 probably null Het
Ms4a3 A T 19: 11,639,218 V20D possibly damaging Het
Myh7b A G 2: 155,618,743 E272G probably damaging Het
Naaladl1 G A 19: 6,108,713 G292S probably damaging Het
Notch2 T A 3: 98,135,743 Y1475N possibly damaging Het
Obp2a G A 2: 25,700,151 E21K probably damaging Het
Olfr1019 A G 2: 85,841,432 Y120H probably damaging Het
Osbpl10 T A 9: 115,061,872 Y109* probably null Het
Plcd1 A T 9: 119,072,041 W749R probably benign Het
Ptpro A G 6: 137,400,706 E718G possibly damaging Het
Rbm4 C T 19: 4,787,919 R295H probably damaging Het
Rsrc1 C T 3: 66,994,649 P44L unknown Het
Setdb2 T C 14: 59,409,532 probably null Het
Slc25a18 C A 6: 120,789,438 L131I probably damaging Het
Slc4a10 A G 2: 62,234,465 H221R probably damaging Het
Tbc1d32 A T 10: 56,150,883 W757R probably damaging Het
Tmem183a C A 1: 134,348,146 V331L probably benign Het
Try10 C A 6: 41,356,550 H76Q probably damaging Het
Ttn T A 2: 76,918,255 H4150L probably benign Het
Vmn2r52 G A 7: 10,171,400 P171S probably benign Het
Vmn2r88 A G 14: 51,415,369 T450A probably benign Het
Yipf7 A T 5: 69,541,062 V34D probably benign Het
Zfp647 G A 15: 76,912,085 P125L probably damaging Het
Zg16 A G 7: 127,050,576 V71A probably benign Het
Other mutations in Cd209d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Cd209d APN 8 3877974 splice site probably null
IGL01707:Cd209d APN 8 3878296 missense probably benign
IGL02864:Cd209d APN 8 3877122 missense probably benign 0.08
IGL03066:Cd209d APN 8 3878437 critical splice donor site probably null
IGL03297:Cd209d APN 8 3878476 missense possibly damaging 0.92
R0324:Cd209d UTSW 8 3878258 missense probably benign 0.31
R1335:Cd209d UTSW 8 3872027 missense probably damaging 1.00
R1349:Cd209d UTSW 8 3878515 unclassified probably benign
R1372:Cd209d UTSW 8 3878515 unclassified probably benign
R1507:Cd209d UTSW 8 3878453 missense possibly damaging 0.72
R1673:Cd209d UTSW 8 3877113 missense probably damaging 1.00
R2393:Cd209d UTSW 8 3878436 critical splice donor site probably null
R2567:Cd209d UTSW 8 3876327 missense probably damaging 1.00
R4907:Cd209d UTSW 8 3877948 missense probably benign 0.01
R5349:Cd209d UTSW 8 3878320 missense probably benign 0.00
R5768:Cd209d UTSW 8 3871968 missense probably benign 0.05
R5949:Cd209d UTSW 8 3877949 missense possibly damaging 0.50
R5953:Cd209d UTSW 8 3877979 splice site probably null
R7382:Cd209d UTSW 8 3877965 nonsense probably null
X0025:Cd209d UTSW 8 3877961 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGACTCTGTGCCTCCTATG -3'
(R):5'- AGTAACCATGAGTGACTCCATG -3'

Sequencing Primer
(F):5'- GCCTCCTATGGCCCACAATTC -3'
(R):5'- GTAACCATGAGTGACTCCATGGAATC -3'
Posted On2017-08-16