Incidental Mutation 'R5369:Colec12'
ID 429582
Institutional Source Beutler Lab
Gene Symbol Colec12
Ensembl Gene ENSMUSG00000036103
Gene Name collectin sub-family member 12
Synonyms CL-P1, Scara4, SRCL
MMRRC Submission 042946-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R5369 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 9707648-9877995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9866750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 654 (I654V)
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: I654V
SMART Domains Protein: ENSMUSP00000043220
Gene: ENSMUSG00000036103
AA Change: I654V

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 0.0644 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (77/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,545,796 (GRCm39) T444A probably damaging Het
A330070K13Rik G A 5: 130,407,932 (GRCm39) probably benign Het
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Acbd5 T A 2: 23,002,522 (GRCm39) L508Q probably damaging Het
Asb15 T C 6: 24,562,563 (GRCm39) V175A probably benign Het
B3galnt2 T C 13: 14,169,010 (GRCm39) probably null Het
BC024139 A C 15: 76,004,422 (GRCm39) S711R probably benign Het
Bod1l A G 5: 41,984,526 (GRCm39) I508T probably damaging Het
Btnl6 T A 17: 34,726,959 (GRCm39) R524* probably null Het
C3 C A 17: 57,528,159 (GRCm39) D687Y probably benign Het
Ccbe1 G A 18: 66,194,485 (GRCm39) A367V probably benign Het
Ccr1 A T 9: 123,764,326 (GRCm39) M68K probably damaging Het
Cd27 T A 6: 125,211,327 (GRCm39) probably benign Het
Celf2 C A 2: 7,085,892 (GRCm39) probably benign Het
Cfap54 T C 10: 92,897,119 (GRCm39) probably benign Het
Cfap97 A G 8: 46,622,687 (GRCm39) K26E probably damaging Het
Clcn4 T A 7: 7,299,032 (GRCm39) I48F probably benign Het
Cnot7 A T 8: 40,947,061 (GRCm39) N238K probably benign Het
Dip2a A G 10: 76,128,194 (GRCm39) I22T probably damaging Het
Eif4g3 C T 4: 137,910,645 (GRCm39) T1375M possibly damaging Het
Eml5 C T 12: 98,825,042 (GRCm39) G725D probably damaging Het
F12 T C 13: 55,566,304 (GRCm39) E496G probably benign Het
Fam227a A T 15: 79,499,637 (GRCm39) S573T probably benign Het
Fnip1 T C 11: 54,393,415 (GRCm39) V593A probably benign Het
Focad T A 4: 88,039,610 (GRCm39) probably benign Het
Frem1 A G 4: 82,919,976 (GRCm39) I460T possibly damaging Het
Galnt10 T G 11: 57,656,573 (GRCm39) probably null Het
Gm5592 A T 7: 40,867,635 (GRCm39) probably benign Het
Gm6185 A T 1: 161,037,330 (GRCm39) noncoding transcript Het
Gm7935 A T 15: 73,952,963 (GRCm39) noncoding transcript Het
Grb14 C T 2: 64,747,653 (GRCm39) V369I probably benign Het
Gstm5 G A 3: 107,805,782 (GRCm39) A198T probably damaging Het
Herc2 T A 7: 55,832,448 (GRCm39) V3048D probably damaging Het
Htra4 T G 8: 25,523,585 (GRCm39) I327L possibly damaging Het
Ifi209 T C 1: 173,464,873 (GRCm39) M1T probably null Het
Ints6 T C 14: 62,981,384 (GRCm39) T135A probably damaging Het
Itpr1 T A 6: 108,496,385 (GRCm39) I2604N probably damaging Het
Krt6a T A 15: 101,600,993 (GRCm39) M268L probably benign Het
Lrp1b G T 2: 40,894,625 (GRCm39) S2201* probably null Het
Lrp2 T C 2: 69,289,904 (GRCm39) N3645S probably benign Het
Lrrc15 A T 16: 30,091,722 (GRCm39) I539N possibly damaging Het
Map3k6 T C 4: 132,974,992 (GRCm39) I675T probably damaging Het
Map3k9 T A 12: 81,768,826 (GRCm39) E1074V probably damaging Het
Med13l T A 5: 118,862,075 (GRCm39) S339R probably benign Het
Mrps18a T C 17: 46,436,552 (GRCm39) probably benign Het
Mtcl2 T C 2: 156,882,654 (GRCm39) E466G probably damaging Het
Nat8f2 G T 6: 85,844,854 (GRCm39) Y169* probably null Het
Nlrp1b A G 11: 71,072,625 (GRCm39) I406T probably benign Het
Npc1l1 A G 11: 6,167,705 (GRCm39) probably null Het
Or10z1 A G 1: 174,078,007 (GRCm39) V162A probably damaging Het
Or5ac20 A T 16: 59,104,743 (GRCm39) M39K probably damaging Het
Ostf1 C T 19: 18,558,689 (GRCm39) G198E probably benign Het
Pcsk5 A G 19: 17,558,619 (GRCm39) V596A probably damaging Het
Pde4c T C 8: 71,202,754 (GRCm39) *647Q probably null Het
Pkm A T 9: 59,577,917 (GRCm39) I245F probably damaging Het
Prss3b T A 6: 41,009,940 (GRCm39) R131S probably benign Het
Ptprj T C 2: 90,299,985 (GRCm39) H179R probably benign Het
Rapgef2 A T 3: 78,976,739 (GRCm39) S1356T probably benign Het
Rbm45 T A 2: 76,200,594 (GRCm39) L41Q probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scel A T 14: 103,823,929 (GRCm39) I386F probably benign Het
Serpinb5 A T 1: 106,809,487 (GRCm39) N298Y possibly damaging Het
Sirt3 A T 7: 140,449,406 (GRCm39) L180Q probably damaging Het
Slc24a2 C T 4: 86,909,625 (GRCm39) V698I probably damaging Het
Slc43a3 A T 2: 84,788,067 (GRCm39) H483L probably damaging Het
Snrnp35 A G 5: 124,628,262 (GRCm39) D25G probably benign Het
Snrnp40 T C 4: 130,256,439 (GRCm39) S55P probably damaging Het
Snx9 T A 17: 5,970,855 (GRCm39) C399S probably damaging Het
Ttbk2 T C 2: 120,655,743 (GRCm39) probably benign Het
Vmn1r1 A G 1: 181,985,341 (GRCm39) V108A possibly damaging Het
Vmn1r201 T A 13: 22,659,672 (GRCm39) N295K probably benign Het
Zfp292 G A 4: 34,807,491 (GRCm39) P1851L possibly damaging Het
Zfp472 A T 17: 33,196,717 (GRCm39) D264V probably 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
R4794:Colec12 UTSW 18 9,848,984 (GRCm39) missense probably damaging 0.99
R5269:Colec12 UTSW 18 9,846,825 (GRCm39) missense possibly damaging 0.67
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'- ACACCAGTCACTCTTAGGGATC -3'
(R):5'- CGTCATTAAGGGAAAGTCGCAG -3'

Sequencing Primer
(F):5'- CAGTCACTCTTAGGGATCCTAAAG -3'
(R):5'- CAGGAAGCTAGGCCGTTGTG -3'
Posted On 2016-09-06