Incidental Mutation 'R8162:Clec4a2'
ID 633570
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 067588-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R8162 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 123099627-123119891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123117711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 210 (Y210N)
Ref Sequence ENSEMBL: ENSMUSP00000032248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032248] [ENSMUST00000041779] [ENSMUST00000161365]
AlphaFold Q9QZ15
Predicted Effect probably damaging
Transcript: ENSMUST00000032248
AA Change: Y210N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032248
Gene: ENSMUSG00000030148
AA Change: Y210N

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 131 256 1.18e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000041779
AA Change: Y186N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045781
Gene: ENSMUSG00000030148
AA Change: Y186N

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
CLECT 107 232 1.18e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161365
AA Change: Y186N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124615
Gene: ENSMUSG00000030148
AA Change: Y186N

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
CLECT 107 232 1.18e-30 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 98% (47/48)
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
Apol7b T A 15: 77,307,430 (GRCm39) Q355L probably benign Het
Asb14 A T 14: 26,633,945 (GRCm39) Q383H probably benign Het
Ash1l T G 3: 88,977,553 (GRCm39) M2661R probably damaging Het
Cacna1e G T 1: 154,577,313 (GRCm39) probably null Het
Ccdc40 G T 11: 119,150,870 (GRCm39) probably null Het
Cd27 T A 6: 125,210,188 (GRCm39) probably null Het
Ces3b T C 8: 105,817,385 (GRCm39) L371S possibly damaging Het
Cpeb2 A T 5: 43,394,681 (GRCm39) H553L Het
Cpne8 T C 15: 90,503,881 (GRCm39) I95V probably benign Het
D630039A03Rik T C 4: 57,910,525 (GRCm39) T96A probably benign Het
Dand5 C A 8: 85,543,147 (GRCm39) G110C probably damaging Het
Erich3 C T 3: 154,470,210 (GRCm39) T1554M unknown Het
Evi5l T C 8: 4,241,300 (GRCm39) S278P probably damaging Het
Farp2 C A 1: 93,548,325 (GRCm39) H1003Q probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gm13741 A C 2: 87,486,446 (GRCm39) M273R possibly damaging Het
Gm28363 T A 1: 117,626,641 (GRCm39) D26E unknown Het
Gm8674 A T 13: 50,054,407 (GRCm39) D700E noncoding transcript Het
Gtf3c4 G A 2: 28,724,593 (GRCm39) Q380* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Il1a A T 2: 129,148,477 (GRCm39) S78T possibly damaging Het
Kdm2b A T 5: 123,072,856 (GRCm39) Y341N probably damaging Het
Mcc T C 18: 44,582,508 (GRCm39) probably null Het
Met A G 6: 17,547,061 (GRCm39) D898G probably damaging Het
Mogs T C 6: 83,092,863 (GRCm39) V101A probably damaging Het
Mrgpra4 A T 7: 47,631,221 (GRCm39) Y127N probably damaging Het
Ms4a18 A G 19: 10,991,071 (GRCm39) S8P probably benign Het
Muc4 A T 16: 32,569,197 (GRCm39) T148S unknown Het
Nutm1 G A 2: 112,078,817 (GRCm39) L1033F probably benign Het
Ocstamp G T 2: 165,239,787 (GRCm39) A133D probably damaging Het
Or1ab2 T G 8: 72,864,253 (GRCm39) V281G noncoding transcript Het
Or5p63 T C 7: 107,810,995 (GRCm39) H247R probably damaging Het
Or8g17 T A 9: 38,930,249 (GRCm39) D196V probably benign Het
Or9s18 G A 13: 65,300,734 (GRCm39) R232Q probably damaging Het
Phf12 C A 11: 77,915,651 (GRCm39) P46Q probably damaging Het
Prf1 A G 10: 61,138,749 (GRCm39) T236A probably damaging Het
Ptcd3 A G 6: 71,884,798 (GRCm39) V47A probably benign Het
Rapgef1 A T 2: 29,626,011 (GRCm39) N1071Y probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf26rt C A 6: 76,473,558 (GRCm39) A353S probably benign Het
Tango6 C T 8: 107,409,882 (GRCm39) P33L possibly damaging Het
Tasor2 G T 13: 3,649,691 (GRCm39) T36N probably damaging Het
Tbc1d2b C T 9: 90,089,937 (GRCm39) R864H probably damaging Het
Tent2 A G 13: 93,304,432 (GRCm39) probably null Het
Trav10n A T 14: 53,359,929 (GRCm39) I69L probably benign Het
Tsks A G 7: 44,603,296 (GRCm39) Q366R probably damaging Het
Vcan G T 13: 89,853,106 (GRCm39) S618* probably null Het
Vwf T A 6: 125,622,799 (GRCm39) probably null Het
Zfp827 T A 8: 79,787,206 (GRCm39) L124* probably null 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
R8053:Clec4a2 UTSW 6 123,104,998 (GRCm39) missense probably benign 0.00
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'- CCACGCCCGACTAAGAAATTTT -3'
(R):5'- TGATCTTGGCATCAATTTTGCT -3'

Sequencing Primer
(F):5'- CCGACTAAGAAATTTTGAAGCGC -3'
(R):5'- ATAAGAACCTTGATTGGGTGCCC -3'
Posted On 2020-07-13