Incidental Mutation 'IGL02477:Colec12'
ID 295013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Colec12
Ensembl Gene ENSMUSG00000036103
Gene Name collectin sub-family member 12
Synonyms CL-P1, SRCL, Scara4
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # IGL02477
Quality Score
Status
Chromosome 18
Chromosomal Location 9707648-9877995 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9859858 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 613 (N613D)
Ref Sequence ENSEMBL: ENSMUSP00000043220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040069]
AlphaFold Q8K4Q8
PDB Structure Mouse Scavenger Receptor C-type Lectin carbohydrate-recognition domain. [X-RAY DIFFRACTION]
Predicted Effect unknown
Transcript: ENSMUST00000040069
AA Change: N613D
SMART Domains Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: N613D

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
coiled coil region 112 157 N/A INTRINSIC
low complexity region 205 211 N/A INTRINSIC
coiled coil region 217 247 N/A INTRINSIC
low complexity region 268 280 N/A INTRINSIC
low complexity region 369 385 N/A INTRINSIC
Pfam:Collagen 441 499 1.4e-10 PFAM
Pfam:Collagen 482 548 9.6e-10 PFAM
Pfam:Collagen 530 591 3.8e-11 PFAM
CLECT 607 731 4.19e-36 SMART
Coding Region Coverage
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-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor, a cell surface glycoprotein that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,270,746 I61F probably benign Het
Abr T C 11: 76,461,360 K280E probably damaging Het
Acaca T C 11: 84,307,168 probably benign Het
Cep131 C T 11: 120,070,580 V582I probably damaging Het
Cyp4f39 A G 17: 32,489,645 T389A probably benign Het
D630003M21Rik T C 2: 158,217,488 N164S probably benign Het
Eef1akmt2 A T 7: 132,850,589 probably null Het
Elp3 T C 14: 65,563,311 T283A probably benign Het
Fads3 C A 19: 10,056,442 P397Q probably damaging Het
Fam171a1 T C 2: 3,202,575 V198A possibly damaging Het
Fam171a2 T C 11: 102,440,028 I208M probably benign Het
Fbxw17 G A 13: 50,423,817 V119M possibly damaging Het
Gtf2ird1 G A 5: 134,379,978 T140M probably damaging Het
Hspa14 C T 2: 3,496,624 S277N probably damaging Het
Hspg2 C T 4: 137,544,512 probably benign Het
Ing2 G T 8: 47,669,268 R82S possibly damaging Het
Kat6a A G 8: 22,929,300 Y693C probably damaging Het
Kcna7 A G 7: 45,409,623 M445V probably benign Het
Lifr T G 15: 7,186,923 I793S probably damaging Het
Lrrd1 T A 5: 3,865,770 M789K probably benign Het
Myom3 T A 4: 135,779,368 L484Q probably benign Het
Nav2 T A 7: 49,582,875 M1860K probably damaging Het
Nipbl C T 15: 8,323,647 probably null Het
Nsun7 T A 5: 66,276,649 I214K probably damaging Het
Olfr181 T C 16: 58,925,763 I269M probably benign Het
Olfr898 C T 9: 38,349,125 S8L probably benign Het
Osm T A 11: 4,239,604 N129K probably damaging Het
Plce1 C T 19: 38,719,553 probably benign Het
Plch1 A G 3: 63,753,293 F302L probably damaging Het
Pld2 T C 11: 70,540,925 V27A possibly damaging Het
Prex2 A G 1: 11,204,154 D1350G probably benign Het
Psme4 T A 11: 30,842,083 V1190D probably damaging Het
Sema3g G T 14: 31,227,866 R668L probably damaging Het
Sprr2f T A 3: 92,365,897 M1K probably null Het
Sult6b2 G A 6: 142,801,721 P101S probably damaging Het
Trem3 G A 17: 48,249,836 V112I probably benign Het
Ttll9 T A 2: 153,000,197 F324I possibly damaging Het
Ttn T A 2: 76,726,760 D29967V probably damaging Het
Ubr4 A G 4: 139,436,205 K2639E probably damaging Het
Vwce T C 19: 10,664,618 probably null Het
Zbtb14 T A 17: 69,387,695 D129E probably benign Het
Zmym6 C T 4: 127,078,502 Q16* probably null Het
Other mutations in Colec12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Colec12 APN 18 9848826 missense probably damaging 1.00
R0128:Colec12 UTSW 18 9858921 missense unknown
R0130:Colec12 UTSW 18 9858921 missense unknown
R0178:Colec12 UTSW 18 9858921 missense unknown
R0179:Colec12 UTSW 18 9858921 missense unknown
R0180:Colec12 UTSW 18 9848890 missense probably damaging 0.99
R0180:Colec12 UTSW 18 9858921 missense unknown
R0318:Colec12 UTSW 18 9848446 missense possibly damaging 0.77
R0344:Colec12 UTSW 18 9858921 missense unknown
R0573:Colec12 UTSW 18 9858650 missense probably damaging 0.97
R1028:Colec12 UTSW 18 9866837 missense unknown
R1693:Colec12 UTSW 18 9866765 missense unknown
R1951:Colec12 UTSW 18 9859975 critical splice donor site probably null
R2008:Colec12 UTSW 18 9874813 missense probably benign 0.03
R2181:Colec12 UTSW 18 9846828 missense probably damaging 0.99
R4258:Colec12 UTSW 18 9720950 missense probably damaging 1.00
R4794:Colec12 UTSW 18 9848984 missense probably damaging 0.99
R5269:Colec12 UTSW 18 9846825 missense possibly damaging 0.67
R5369:Colec12 UTSW 18 9866750 missense unknown
R5421:Colec12 UTSW 18 9858580 missense probably damaging 1.00
R5608:Colec12 UTSW 18 9848267 missense possibly damaging 0.95
R5668:Colec12 UTSW 18 9848963 missense probably damaging 1.00
R5684:Colec12 UTSW 18 9849009 missense probably damaging 0.99
R6547:Colec12 UTSW 18 9840351 missense probably damaging 1.00
R7194:Colec12 UTSW 18 9848248 missense probably benign 0.08
R7253:Colec12 UTSW 18 9848922 missense probably damaging 1.00
R8492:Colec12 UTSW 18 9876980 splice site probably null
R9365:Colec12 UTSW 18 9848146 missense probably damaging 1.00
R9649:Colec12 UTSW 18 9877000 missense unknown
Z1088:Colec12 UTSW 18 9848727 missense probably benign 0.31
Posted On 2015-04-16