Incidental Mutation 'R8053:Clec4a2'
ID 619182
Institutional Source Beutler Lab
Gene Symbol Clec4a2
Ensembl Gene ENSMUSG00000030148
Gene Name C-type lectin domain family 4, member a2
Synonyms dendritic cell immunoreceptor, Clecsf6, DCIR, Dcir1
MMRRC Submission 067490-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R8053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 123099627-123119891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123104998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 96 (V96A)
Ref Sequence ENSEMBL: ENSMUSP00000032248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032248] [ENSMUST00000041779] [ENSMUST00000159891] [ENSMUST00000161365] [ENSMUST00000161636]
AlphaFold Q9QZ15
Predicted Effect probably benign
Transcript: ENSMUST00000032248
AA Change: V96A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000032248
Gene: ENSMUSG00000030148
AA Change: V96A

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 131 256 1.18e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041779
AA Change: V96A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045781
Gene: ENSMUSG00000030148
AA Change: V96A

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 benign
Transcript: ENSMUST00000161365
AA Change: V96A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124615
Gene: ENSMUSG00000030148
AA Change: V96A

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
CLECT 107 232 1.18e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161636
SMART Domains Protein: ENSMUSP00000123973
Gene: ENSMUSG00000030148

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C T 12: 18,583,728 (GRCm39) R263* probably null Het
Abca12 G A 1: 71,388,328 (GRCm39) R181* probably null Het
Adar T C 3: 89,654,592 (GRCm39) L908P probably damaging Het
Ankrd55 C T 13: 112,459,687 (GRCm39) R94C probably damaging Het
Aopep A T 13: 63,338,345 (GRCm39) K574* probably null Het
Carf A T 1: 60,167,197 (GRCm39) T177S probably benign Het
Ccdc162 C A 10: 41,520,577 (GRCm39) G693V probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Chd4 G T 6: 125,105,779 (GRCm39) E1799* probably null Het
Chrna3 T A 9: 54,922,674 (GRCm39) N378I probably benign Het
Cntnap5b T A 1: 100,318,402 (GRCm39) L683Q probably damaging Het
Crisp4 T A 1: 18,194,498 (GRCm39) Q208L probably benign Het
Crocc A G 4: 140,770,230 (GRCm39) probably null Het
Cyp2ab1 T C 16: 20,133,018 (GRCm39) E192G probably benign Het
Cyrib T C 15: 63,813,832 (GRCm39) D155G probably damaging Het
Daglb A G 5: 143,489,024 (GRCm39) K627R probably benign Het
Desi2 G A 1: 178,065,482 (GRCm39) W16* probably null Het
Dtx3l T C 16: 35,759,322 (GRCm39) probably benign Het
Elf2 A G 3: 51,215,551 (GRCm39) V53A possibly damaging Het
Eomes A G 9: 118,309,621 (GRCm39) D325G probably damaging Het
Etl4 A T 2: 20,666,774 (GRCm39) L60F probably damaging Het
Exoc4 A G 6: 33,309,191 (GRCm39) D271G probably benign Het
F5 A G 1: 164,020,338 (GRCm39) I938V probably benign Het
Fdxr T A 11: 115,160,665 (GRCm39) K290M probably benign Het
Fgd5 G A 6: 91,966,425 (GRCm39) S886N probably benign Het
Gm11595 G A 11: 99,662,954 (GRCm39) S242F unknown Het
Gm14322 A T 2: 177,411,424 (GRCm39) Q78L probably damaging Het
Gm8267 A T 14: 44,962,307 (GRCm39) S38T possibly damaging Het
Gpr75 A T 11: 30,841,559 (GRCm39) T155S probably benign Het
Hectd3 T C 4: 116,858,055 (GRCm39) S628P possibly damaging Het
Hrh2 A G 13: 54,368,104 (GRCm39) T27A probably benign Het
Kif16b G A 2: 142,695,634 (GRCm39) R157C probably damaging Het
Krt16 T C 11: 100,137,613 (GRCm39) Y364C probably damaging Het
Lrrc37 T A 11: 103,495,392 (GRCm39) K2809I unknown Het
Map2k5 T A 9: 63,250,707 (GRCm39) N95I probably benign Het
Melk A G 4: 44,318,109 (GRCm39) Y170C probably damaging Het
Mthfd1 T A 12: 76,327,282 (GRCm39) D123E probably damaging Het
Muc2 A T 7: 141,284,575 (GRCm39) Y827F probably benign Het
Myh15 T A 16: 48,963,302 (GRCm39) M1081K possibly damaging Het
Nbeal1 A G 1: 60,318,954 (GRCm39) T1998A probably damaging Het
Neb T A 2: 52,176,029 (GRCm39) T1477S possibly damaging Het
Nox4 C A 7: 87,019,255 (GRCm39) P416Q probably damaging Het
Or10ak7 A G 4: 118,791,308 (GRCm39) S246P probably damaging Het
Or1e31 T C 11: 73,689,822 (GRCm39) T254A probably benign Het
Or2j3 A T 17: 38,616,101 (GRCm39) F84I probably benign Het
Or4c123 A T 2: 89,127,540 (GRCm39) F25I possibly damaging Het
Or5g23 T C 2: 85,439,234 (GRCm39) T7A probably damaging Het
Pcdhga4 A G 18: 37,819,308 (GRCm39) K286E probably benign Het
Pde10a A G 17: 9,193,604 (GRCm39) T679A probably benign Het
Phc2 C T 4: 128,603,433 (GRCm39) Q188* probably null Het
Pramel12 C A 4: 143,144,208 (GRCm39) Q185K probably benign Het
Prdm15 A G 16: 97,636,807 (GRCm39) M170T probably benign Het
Rab20 G T 8: 11,504,443 (GRCm39) Q86K probably damaging Het
Rev1 T C 1: 38,102,222 (GRCm39) I714V possibly damaging Het
Rexo2 A G 9: 48,386,418 (GRCm39) probably null Het
Rnf213 A G 11: 119,293,473 (GRCm39) K75E Het
Sdk2 C T 11: 113,745,177 (GRCm39) R706Q probably damaging Het
Sema3c C T 5: 17,860,020 (GRCm39) T95I probably benign Het
Sh3rf2 T A 18: 42,286,087 (GRCm39) S527T probably damaging Het
Sis A T 3: 72,856,901 (GRCm39) Y434* probably null Het
Slc16a6 G A 11: 109,349,395 (GRCm39) T222I probably damaging Het
Smad6 A G 9: 63,927,789 (GRCm39) L173P probably damaging Het
Sugct T A 13: 17,476,554 (GRCm39) N310I probably damaging Het
Syne1 T A 10: 5,002,658 (GRCm39) K259* probably null Het
Taar6 A G 10: 23,861,144 (GRCm39) V134A possibly damaging Het
Tmem199 A G 11: 78,398,612 (GRCm39) I184T possibly damaging Het
Tnrc18 G T 5: 142,736,385 (GRCm39) D1530E unknown Het
Tnxb G A 17: 34,923,153 (GRCm39) V2579M probably damaging Het
Vangl2 A G 1: 171,832,303 (GRCm39) F518L probably damaging Het
Vmn2r40 T C 7: 8,911,245 (GRCm39) T683A Het
Wapl C T 14: 34,414,278 (GRCm39) T380I probably damaging Het
Zfp874b A T 13: 67,622,217 (GRCm39) H360Q probably damaging Het
Other mutations in Clec4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Clec4a2 APN 6 123,116,037 (GRCm39) intron probably benign
IGL01384:Clec4a2 APN 6 123,104,947 (GRCm39) missense probably damaging 1.00
IGL01481:Clec4a2 APN 6 123,119,459 (GRCm39) missense probably benign 0.30
IGL02159:Clec4a2 APN 6 123,116,285 (GRCm39) missense probably benign 0.04
IGL02436:Clec4a2 APN 6 123,117,637 (GRCm39) missense possibly damaging 0.79
IGL03140:Clec4a2 APN 6 123,117,735 (GRCm39) splice site probably benign
R0485:Clec4a2 UTSW 6 123,100,588 (GRCm39) missense probably damaging 0.99
R1852:Clec4a2 UTSW 6 123,116,084 (GRCm39) nonsense probably null
R3431:Clec4a2 UTSW 6 123,116,370 (GRCm39) splice site probably null
R4436:Clec4a2 UTSW 6 123,105,013 (GRCm39) critical splice donor site probably null
R4524:Clec4a2 UTSW 6 123,102,043 (GRCm39) missense probably damaging 1.00
R4736:Clec4a2 UTSW 6 123,117,622 (GRCm39) missense probably damaging 1.00
R4740:Clec4a2 UTSW 6 123,117,622 (GRCm39) missense probably damaging 1.00
R4908:Clec4a2 UTSW 6 123,119,462 (GRCm39) missense probably damaging 1.00
R6516:Clec4a2 UTSW 6 123,116,365 (GRCm39) missense probably damaging 1.00
R7394:Clec4a2 UTSW 6 123,116,079 (GRCm39) missense unknown
R7454:Clec4a2 UTSW 6 123,119,411 (GRCm39) missense probably damaging 0.98
R7644:Clec4a2 UTSW 6 123,101,974 (GRCm39) missense probably benign 0.10
R8162:Clec4a2 UTSW 6 123,117,711 (GRCm39) missense probably damaging 1.00
R8482:Clec4a2 UTSW 6 123,100,630 (GRCm39) critical splice donor site probably null
R9127:Clec4a2 UTSW 6 123,116,218 (GRCm39) missense probably damaging 1.00
R9253:Clec4a2 UTSW 6 123,100,608 (GRCm39) missense probably damaging 0.99
R9341:Clec4a2 UTSW 6 123,104,955 (GRCm39) missense probably benign 0.06
R9343:Clec4a2 UTSW 6 123,104,955 (GRCm39) missense probably benign 0.06
R9597:Clec4a2 UTSW 6 123,116,291 (GRCm39) missense probably benign 0.41
R9671:Clec4a2 UTSW 6 123,101,942 (GRCm39) missense possibly damaging 0.68
X0024:Clec4a2 UTSW 6 123,116,040 (GRCm39) intron probably benign
X0025:Clec4a2 UTSW 6 123,116,314 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GATGGGAATTGTAGTCAGGCTC -3'
(R):5'- GCCAAGTTCTATAGATATCCCTGGG -3'

Sequencing Primer
(F):5'- GAATTGTAGTCAGGCTCTGTTTAC -3'
(R):5'- TCTATAGATATCCCTGGGAGGCC -3'
Posted On 2020-01-23