Incidental Mutation 'R4794:Colec12'
ID 368885
Institutional Source Beutler Lab
Gene Symbol Colec12
Ensembl Gene ENSMUSG00000036103
Gene Name collectin sub-family member 12
Synonyms CL-P1, Scara4, SRCL
MMRRC Submission 042420-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R4794 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 9707648-9877995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 9848984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 387 (N387K)
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 probably damaging
Transcript: ENSMUST00000040069
AA Change: N387K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: N387K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 97% (75/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,468,198 (GRCm39) I141K probably damaging Het
Adgrb1 A G 15: 74,459,978 (GRCm39) E537G probably damaging Het
Asic3 C T 5: 24,620,895 (GRCm39) A259V probably damaging Het
Bcar1 G A 8: 112,447,552 (GRCm39) Q142* probably null Het
Bcas3 T C 11: 85,400,294 (GRCm39) V200A probably damaging Het
Cd302 A T 2: 60,102,493 (GRCm39) I42N probably benign Het
Copa T A 1: 171,946,888 (GRCm39) I1032N probably damaging Het
D630003M21Rik G C 2: 158,038,059 (GRCm39) T1129S probably benign Het
D630045J12Rik G A 6: 38,171,420 (GRCm39) T916I possibly damaging Het
Dnajb13 C T 7: 100,153,199 (GRCm39) A241T probably damaging Het
Dyrk4 G T 6: 126,862,300 (GRCm39) N397K possibly damaging Het
Eftud2 T A 11: 102,761,003 (GRCm39) Y114F probably benign Het
Elp1 ACTTCTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTCTTC 4: 56,781,176 (GRCm39) probably benign Het
Epm2a A G 10: 11,266,597 (GRCm39) D114G probably benign Het
Exoc5 T C 14: 49,286,357 (GRCm39) probably null Het
Fam135a G A 1: 24,068,241 (GRCm39) T706I probably benign Het
Fasn A G 11: 120,702,121 (GRCm39) V1845A probably benign Het
Fscn3 A G 6: 28,430,595 (GRCm39) E255G probably damaging Het
Galnt7 A T 8: 57,998,397 (GRCm39) Y311N probably damaging Het
Grid1 T C 14: 34,544,579 (GRCm39) L50P probably damaging Het
Hepacam2 A G 6: 3,475,933 (GRCm39) F331L probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif1a T C 1: 92,953,449 (GRCm39) Y1245C probably damaging Het
Ltbp3 T C 19: 5,806,707 (GRCm39) F1022L probably damaging Het
Med16 G T 10: 79,735,951 (GRCm39) T399N probably damaging Het
Mfsd14a A T 3: 116,439,155 (GRCm39) probably benign Het
Myh7b G A 2: 155,465,186 (GRCm39) V681I probably benign Het
Ndc1 A G 4: 107,247,419 (GRCm39) E409G probably benign Het
Necap2 A G 4: 140,798,912 (GRCm39) probably benign Het
Or2a57 T A 6: 43,212,629 (GRCm39) L29H probably damaging Het
Or4p21 A T 2: 88,276,691 (GRCm39) M197K probably benign Het
Or7g29 C T 9: 19,286,841 (GRCm39) S112N probably benign Het
Parp12 G A 6: 39,094,744 (GRCm39) T117I probably benign Het
Pars2 C A 4: 106,511,407 (GRCm39) C396* probably null Het
Prg4 A T 1: 150,330,297 (GRCm39) probably benign Het
Prkg2 G A 5: 99,114,492 (GRCm39) T523I probably damaging Het
Prph T A 15: 98,955,308 (GRCm39) L425Q probably damaging Het
Ranbp9 A G 13: 43,567,552 (GRCm39) Y549H probably damaging Het
Rbm12 A T 2: 155,937,489 (GRCm39) probably benign Het
Reln T C 5: 22,549,183 (GRCm39) Y75C probably damaging Het
Rock2 G A 12: 16,990,408 (GRCm39) R110H probably damaging Het
Samd1 G A 8: 84,726,346 (GRCm39) E468K probably damaging Het
Samd11 T A 4: 156,333,922 (GRCm39) Q173L probably damaging Het
Scgb2b20 C A 7: 33,065,151 (GRCm39) G37V probably damaging Het
Sf1 C A 19: 6,425,694 (GRCm39) probably benign Het
Slc17a5 T A 9: 78,481,997 (GRCm39) H183L probably damaging Het
Slco1a7 A G 6: 141,713,288 (GRCm39) V31A probably benign Het
Smgc T A 15: 91,725,657 (GRCm39) S13T probably benign Het
Snapin A G 3: 90,398,092 (GRCm39) probably benign Het
Spata31e4 C G 13: 50,857,275 (GRCm39) P971R probably benign Het
Ssc5d C T 7: 4,946,744 (GRCm39) P1033S probably benign Het
Strn3 T C 12: 51,696,954 (GRCm39) E259G probably benign Het
Tbc1d32 A G 10: 56,072,932 (GRCm39) F238L possibly damaging Het
Tbck G A 3: 132,392,729 (GRCm39) V57M possibly damaging Het
Tgm3 A G 2: 129,883,875 (GRCm39) D511G probably benign Het
Tlr5 T C 1: 182,801,461 (GRCm39) V241A probably benign Het
Tmem181c-ps A G 17: 6,887,754 (GRCm39) noncoding transcript Het
Tnfrsf1a G A 6: 125,335,047 (GRCm39) C168Y probably damaging Het
Tph2 G T 10: 115,018,675 (GRCm39) L79I possibly damaging Het
Tsc1 G A 2: 28,551,702 (GRCm39) probably null Het
Ttc14 A T 3: 33,857,298 (GRCm39) M215L probably benign Het
Ube3c A G 5: 29,802,083 (GRCm39) N120S probably benign Het
Ubr2 A T 17: 47,241,371 (GRCm39) W1728R probably damaging Het
Vnn1 A G 10: 23,776,602 (GRCm39) T318A probably benign Het
Washc2 T C 6: 116,235,610 (GRCm39) V941A probably benign Het
Wdfy3 A G 5: 102,091,809 (GRCm39) V510A probably damaging Het
Wdsub1 A T 2: 59,693,188 (GRCm39) V272E possibly damaging Het
Xylt1 A C 7: 117,236,862 (GRCm39) D537A probably benign Het
Zfp57 A G 17: 37,321,022 (GRCm39) N292S possibly damaging Het
Other mutations in Colec12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Colec12 APN 18 9,848,826 (GRCm39) missense probably damaging 1.00
IGL02477:Colec12 APN 18 9,859,858 (GRCm39) missense unknown
R0128:Colec12 UTSW 18 9,858,921 (GRCm39) missense unknown
R0130:Colec12 UTSW 18 9,858,921 (GRCm39) missense unknown
R0178:Colec12 UTSW 18 9,858,921 (GRCm39) missense unknown
R0179:Colec12 UTSW 18 9,858,921 (GRCm39) missense unknown
R0180:Colec12 UTSW 18 9,858,921 (GRCm39) missense unknown
R0180:Colec12 UTSW 18 9,848,890 (GRCm39) missense probably damaging 0.99
R0318:Colec12 UTSW 18 9,848,446 (GRCm39) missense possibly damaging 0.77
R0344:Colec12 UTSW 18 9,858,921 (GRCm39) missense unknown
R0573:Colec12 UTSW 18 9,858,650 (GRCm39) missense probably damaging 0.97
R1028:Colec12 UTSW 18 9,866,837 (GRCm39) missense unknown
R1693:Colec12 UTSW 18 9,866,765 (GRCm39) missense unknown
R1951:Colec12 UTSW 18 9,859,975 (GRCm39) critical splice donor site probably null
R2008:Colec12 UTSW 18 9,874,813 (GRCm39) missense probably benign 0.03
R2181:Colec12 UTSW 18 9,846,828 (GRCm39) missense probably damaging 0.99
R4258:Colec12 UTSW 18 9,720,950 (GRCm39) missense probably damaging 1.00
R5269:Colec12 UTSW 18 9,846,825 (GRCm39) missense possibly damaging 0.67
R5369:Colec12 UTSW 18 9,866,750 (GRCm39) missense unknown
R5421:Colec12 UTSW 18 9,858,580 (GRCm39) missense probably damaging 1.00
R5608:Colec12 UTSW 18 9,848,267 (GRCm39) missense possibly damaging 0.95
R5668:Colec12 UTSW 18 9,848,963 (GRCm39) missense probably damaging 1.00
R5684:Colec12 UTSW 18 9,849,009 (GRCm39) missense probably damaging 0.99
R6547:Colec12 UTSW 18 9,840,351 (GRCm39) missense probably damaging 1.00
R7194:Colec12 UTSW 18 9,848,248 (GRCm39) missense probably benign 0.08
R7253:Colec12 UTSW 18 9,848,922 (GRCm39) missense probably damaging 1.00
R8492:Colec12 UTSW 18 9,876,980 (GRCm39) splice site probably null
R9365:Colec12 UTSW 18 9,848,146 (GRCm39) missense probably damaging 1.00
R9649:Colec12 UTSW 18 9,877,000 (GRCm39) missense unknown
Z1088:Colec12 UTSW 18 9,848,727 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- TGAAAGACCTTCAGGACTTACACAAG -3'
(R):5'- CACTTACCTTGTAGAATGGTAAAGTTC -3'

Sequencing Primer
(F):5'- TTCAGGACTTACACAAGGATACAG -3'
(R):5'- AAAGTTCTTGATGAGCTGACCG -3'
Posted On 2016-02-04