Incidental Mutation 'R8362:Clec4b1'
ID 645995
Institutional Source Beutler Lab
Gene Symbol Clec4b1
Ensembl Gene ENSMUSG00000030147
Gene Name C-type lectin domain family 4, member b1
Synonyms 1810046I24Rik, 1810046I24Rik, DCARbeta, DCAR, mDcar2
MMRRC Submission 067808-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R8362 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 123026921-123048514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123027602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 20 (S20P)
Ref Sequence ENSEMBL: ENSMUSP00000077636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077228] [ENSMUST00000078559]
AlphaFold Q7TS58
Predicted Effect possibly damaging
Transcript: ENSMUST00000077228
AA Change: S20P

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000076466
Gene: ENSMUSG00000030147
AA Change: S20P

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
CLECT 45 170 2.95e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078559
AA Change: S20P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000077636
Gene: ENSMUSG00000030147
AA Change: S20P

DomainStartEndE-ValueType
Blast:CLECT 26 71 1e-9 BLAST
CLECT 78 203 2.95e-31 SMART
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 dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T A 19: 8,867,395 (GRCm39) S65T probably damaging Het
Abcb1b A T 5: 8,848,758 (GRCm39) N6I probably benign Het
Abr A T 11: 76,369,954 (GRCm39) I145N probably benign Het
Alcam A T 16: 52,115,387 (GRCm39) Y244N probably damaging Het
Amotl1 G A 9: 14,556,218 (GRCm39) A36V probably benign Het
Ankrd11 A T 8: 123,618,797 (GRCm39) L1685Q probably damaging Het
Ascc3 A C 10: 50,518,692 (GRCm39) Q332H possibly damaging Het
Cdc42bpa C T 1: 179,989,690 (GRCm39) L1720F probably damaging Het
Cpt1a C T 19: 3,420,744 (GRCm39) R401* probably null Het
Dnah12 T A 14: 26,576,788 (GRCm39) Y3013N probably damaging Het
Dop1a G A 9: 86,395,941 (GRCm39) R801H probably benign Het
Flywch1 G T 17: 23,975,682 (GRCm39) T520N probably damaging Het
Fndc1 A G 17: 8,001,207 (GRCm39) S190P unknown Het
Gabra1 G T 11: 42,066,831 (GRCm39) Q28K probably benign Het
Gria2 T C 3: 80,615,197 (GRCm39) M428V possibly damaging Het
H13 T A 2: 152,528,311 (GRCm39) I220N unknown Het
Hars2 T A 18: 36,923,228 (GRCm39) F412L probably benign Het
Hecw2 A T 1: 54,079,650 (GRCm39) M1K probably null Het
Homer1 T A 13: 93,502,797 (GRCm39) S192T unknown Het
Itga2b T A 11: 102,352,189 (GRCm39) D464V probably damaging Het
Ivd T A 2: 118,708,422 (GRCm39) C379S probably damaging Het
Khdc3 A T 9: 73,010,848 (GRCm39) N233Y possibly damaging Het
Lrrc37 A G 11: 103,506,163 (GRCm39) V1935A probably benign Het
Lrrfip1 T A 1: 90,981,423 (GRCm39) L15Q probably damaging Het
Megf8 C A 7: 25,039,943 (GRCm39) P986Q probably benign Het
Morc2b G T 17: 33,357,295 (GRCm39) T159K possibly damaging Het
Nudt5 A G 2: 5,858,322 (GRCm39) probably null Het
Or6c211 G T 10: 129,506,100 (GRCm39) A96E possibly damaging Het
Paqr5 A T 9: 61,879,945 (GRCm39) Y116* probably null Het
Pcnx1 A C 12: 82,013,830 (GRCm39) S623R Het
Polr1a T C 6: 71,941,651 (GRCm39) V1053A probably benign Het
Ptprt A T 2: 161,393,667 (GRCm39) D1252E probably damaging Het
Qser1 A G 2: 104,620,246 (GRCm39) S189P probably damaging Het
Rasal1 C T 5: 120,813,485 (GRCm39) R620W probably damaging Het
Rbms1 C T 2: 60,793,083 (GRCm39) M9I probably benign Het
Ska3 T C 14: 58,054,105 (GRCm39) N282D probably benign Het
Slc25a24 T A 3: 109,065,878 (GRCm39) I245N possibly damaging Het
Slc26a4 C T 12: 31,594,506 (GRCm39) V281I probably benign Het
Smg8 A T 11: 86,968,881 (GRCm39) Y958* probably null Het
Spata31 A G 13: 65,070,044 (GRCm39) T731A possibly damaging Het
Spg11 G T 2: 121,948,842 (GRCm39) A3D unknown Het
Srgap1 A G 10: 121,691,383 (GRCm39) Y284H possibly damaging Het
Stt3b A G 9: 115,083,988 (GRCm39) I396T probably damaging Het
Tnxb A G 17: 34,931,946 (GRCm39) T2160A probably damaging Het
Tprg1l G C 4: 154,244,815 (GRCm39) T91S possibly damaging Het
Ush2a G A 1: 188,689,650 (GRCm39) V5071I probably damaging Het
Vmn2r60 T A 7: 41,844,954 (GRCm39) N772K probably damaging Het
Vmn2r81 T A 10: 79,103,283 (GRCm39) W159R probably benign Het
Vmn2r93 G A 17: 18,546,353 (GRCm39) V742I probably benign Het
Zc3h13 C A 14: 75,561,909 (GRCm39) H654N unknown Het
Zfp516 T C 18: 83,005,019 (GRCm39) L641P probably benign Het
Zfp623 T C 15: 75,819,488 (GRCm39) V148A probably damaging Het
Other mutations in Clec4b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02817:Clec4b1 APN 6 123,045,444 (GRCm39) missense possibly damaging 0.83
R0488:Clec4b1 UTSW 6 123,048,441 (GRCm39) missense probably damaging 0.99
R0526:Clec4b1 UTSW 6 123,046,729 (GRCm39) critical splice donor site probably null
R0675:Clec4b1 UTSW 6 123,048,405 (GRCm39) missense probably damaging 0.99
R2374:Clec4b1 UTSW 6 123,027,597 (GRCm39) missense probably damaging 1.00
R2504:Clec4b1 UTSW 6 123,042,904 (GRCm39) missense probably damaging 0.98
R3609:Clec4b1 UTSW 6 123,027,591 (GRCm39) missense probably damaging 0.99
R4062:Clec4b1 UTSW 6 123,045,443 (GRCm39) missense probably benign 0.03
R4081:Clec4b1 UTSW 6 123,046,733 (GRCm39) splice site probably null
R4865:Clec4b1 UTSW 6 123,045,428 (GRCm39) missense possibly damaging 0.84
R5172:Clec4b1 UTSW 6 123,048,414 (GRCm39) missense probably benign 0.34
R5204:Clec4b1 UTSW 6 123,048,494 (GRCm39) makesense probably null
R5757:Clec4b1 UTSW 6 123,046,713 (GRCm39) nonsense probably null
R6129:Clec4b1 UTSW 6 123,045,461 (GRCm39) missense possibly damaging 0.50
R7598:Clec4b1 UTSW 6 123,048,427 (GRCm39) nonsense probably null
R8337:Clec4b1 UTSW 6 123,042,922 (GRCm39) missense probably benign 0.08
R8929:Clec4b1 UTSW 6 123,046,728 (GRCm39) critical splice donor site probably null
Z1188:Clec4b1 UTSW 6 123,027,005 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- ATCCTAGGATGTTGACAGCAC -3'
(R):5'- TATTGCATGCAAGACTGGACC -3'

Sequencing Primer
(F):5'- ATTCTGAGCATTTTGTCTGG -3'
(R):5'- CCTGGTCCATGCAGAAAGTTTCAG -3'
Posted On 2020-09-02