Incidental Mutation 'R4524:Clec4a2'
ID384567
Institutional Source Beutler Lab
Gene Symbol Clec4a2
Ensembl Gene ENSMUSG00000030148
Gene NameC-type lectin domain family 4, member a2
SynonymsDcir1, dendritic cell immunoreceptor, DCIR, Clecsf6
MMRRC Submission 041766-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R4524 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location123106428-123143999 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 123125084 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 66 (I66N)
Ref Sequence ENSEMBL: ENSMUSP00000032248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032248] [ENSMUST00000041779] [ENSMUST00000159891] [ENSMUST00000161365] [ENSMUST00000161636]
Predicted Effect probably damaging
Transcript: ENSMUST00000032248
AA Change: I66N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032248
Gene: ENSMUSG00000030148
AA Change: I66N

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 131 256 1.18e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000041779
AA Change: I66N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000045781
Gene: ENSMUSG00000030148
AA Change: I66N

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
CLECT 107 232 1.18e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159891
Predicted Effect probably damaging
Transcript: ENSMUST00000161365
AA Change: I66N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124615
Gene: ENSMUSG00000030148
AA Change: I66N

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
CLECT 107 232 1.18e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161636
AA Change: I66N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123973
Gene: ENSMUSG00000030148
AA Change: I66N

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may play a role in inflammatory and immune response. Multiple transcript variants encoding distinct isoforms have been identified for this gene. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased IgG2a, IgG2b and IgG3 levels, increased B cell proliferation, enlarged lymph nodes and degeneration of seminiferous tubules. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,302,917 S962G probably benign Het
Ackr2 T C 9: 121,909,543 V328A probably benign Het
Ang4 G T 14: 51,764,148 C114* probably null Het
Arid1b A T 17: 5,097,620 Q599L possibly damaging Het
Ascc3 A G 10: 50,660,670 N700D probably benign Het
Atrnl1 A G 19: 57,630,306 D152G probably damaging Het
BC017643 A G 11: 121,224,108 probably benign Het
Birc6 C T 17: 74,641,777 T3067I probably damaging Het
Bmpr2 T C 1: 59,867,412 S555P probably benign Het
Brox A T 1: 183,292,481 L68I possibly damaging Het
C130026L21Rik A G 5: 111,585,872 noncoding transcript Het
Cavin2 T C 1: 51,301,070 V302A probably benign Het
Cbln3 A T 14: 55,884,065 C41* probably null Het
Ccdc88c G T 12: 100,913,332 S1843R possibly damaging Het
Ddx27 T A 2: 167,027,720 C358* probably null Het
Ehbp1 A T 11: 22,151,843 D228E probably damaging Het
Emc7 T C 2: 112,455,264 V66A probably damaging Het
Fbxo41 A G 6: 85,484,042 I228T probably damaging Het
Furin T C 7: 80,398,634 probably null Het
Gm3739 T A 14: 7,299,398 K86* probably null Het
Gmpr A T 13: 45,529,739 E162V probably damaging Het
Gtpbp4 A T 13: 8,974,294 V541D probably benign Het
Myh2 G T 11: 67,176,270 G184W probably damaging Het
Nop2 G T 6: 125,133,552 R47L probably damaging Het
Nrg4 T G 9: 55,227,902 probably benign Het
Ntng1 A G 3: 109,934,996 S154P probably damaging Het
Olfr298 G T 7: 86,488,826 H242N probably damaging Het
Olfr874 T C 9: 37,746,866 L244S possibly damaging Het
Pde7a T A 3: 19,230,976 H349L possibly damaging Het
Pds5b A T 5: 150,788,316 D913V probably damaging Het
Plce1 T C 19: 38,524,319 S21P possibly damaging Het
Ralgapb C A 2: 158,437,306 T104N probably benign Het
Rapgef1 A G 2: 29,679,246 I59V probably benign Het
Rpl10l T C 12: 66,283,738 D207G probably benign Het
Rsph6a C T 7: 19,066,045 H534Y probably damaging Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Shcbp1 T C 8: 4,739,193 Y542C probably damaging Het
Shisa8 C G 15: 82,211,962 V151L possibly damaging Het
Slc7a8 G A 14: 54,737,602 T190I probably damaging Het
Spire2 T A 8: 123,360,235 S382T probably benign Het
Stard9 A G 2: 120,696,445 D1061G probably damaging Het
Tex44 T G 1: 86,427,576 D402E probably benign Het
Thbs1 G T 2: 118,122,979 R959L probably damaging Het
Tiam2 A G 17: 3,514,711 D1408G probably damaging Het
Trrap C T 5: 144,825,321 T2352I probably benign Het
Tspyl5 T A 15: 33,687,592 E69V probably damaging Het
Ubqlnl C T 7: 104,149,718 V191M probably benign Het
Washc1 C T 17: 66,119,092 Q462* probably null Het
Xdh C A 17: 73,898,344 G1042V probably damaging Het
Other mutations in Clec4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Clec4a2 APN 6 123139078 intron probably benign
IGL01384:Clec4a2 APN 6 123127988 missense probably damaging 1.00
IGL01481:Clec4a2 APN 6 123142500 missense probably benign 0.30
IGL02159:Clec4a2 APN 6 123139326 missense probably benign 0.04
IGL02436:Clec4a2 APN 6 123140678 missense possibly damaging 0.79
IGL03140:Clec4a2 APN 6 123140776 splice site probably benign
R0485:Clec4a2 UTSW 6 123123629 missense probably damaging 0.99
R1852:Clec4a2 UTSW 6 123139125 nonsense probably null
R3431:Clec4a2 UTSW 6 123139411 splice site probably null
R4436:Clec4a2 UTSW 6 123128054 critical splice donor site probably null
R4736:Clec4a2 UTSW 6 123140663 missense probably damaging 1.00
R4740:Clec4a2 UTSW 6 123140663 missense probably damaging 1.00
R4908:Clec4a2 UTSW 6 123142503 missense probably damaging 1.00
R6516:Clec4a2 UTSW 6 123139406 missense probably damaging 1.00
R7394:Clec4a2 UTSW 6 123139120 missense unknown
R7454:Clec4a2 UTSW 6 123142452 missense probably damaging 0.98
R7644:Clec4a2 UTSW 6 123125015 missense probably benign 0.10
R8053:Clec4a2 UTSW 6 123128039 missense probably benign 0.00
X0024:Clec4a2 UTSW 6 123139081 intron probably benign
X0025:Clec4a2 UTSW 6 123139355 missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GCTATTAGTAACTATGTGTCATGGAGG -3'
(R):5'- CAGTTTGACACCTTGCTGCC -3'

Sequencing Primer
(F):5'- TAACTATGTGTCATGGAGGAAAATG -3'
(R):5'- TGACACCTTGCTGCCAATGAG -3'
Posted On2016-04-29