Incidental Mutation 'R2926:Colec11'
ID 255774
Institutional Source Beutler Lab
Gene Symbol Colec11
Ensembl Gene ENSMUSG00000036655
Gene Name collectin sub-family member 11
Synonyms 1010001H16Rik
MMRRC Submission 040511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R2926 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 28644172-28673376 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28667428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 37 (Q37L)
Ref Sequence ENSEMBL: ENSMUSP00000152207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036136] [ENSMUST00000220655] [ENSMUST00000220836]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036136
AA Change: Q37L

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000049285
Gene: ENSMUSG00000036655
AA Change: Q37L

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Collagen 40 88 5.8e-10 PFAM
Pfam:Collagen 60 116 4.7e-11 PFAM
CLECT 139 266 1.74e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220655
AA Change: Q37L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000220836
AA Change: Q37L

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.1195 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in the human gene are a cause of 3MC syndrome-2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit decreased susceptibility to kidney reperfusion injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 G T 5: 124,216,902 (GRCm39) S438R possibly damaging Het
Add3 A G 19: 53,215,253 (GRCm39) probably null Het
Adgrb2 T C 4: 129,902,137 (GRCm39) L506P probably damaging Het
Atp6v0a1 A T 11: 100,934,774 (GRCm39) I621L probably damaging Het
Calb1 T G 4: 15,904,302 (GRCm39) L218R probably damaging Het
Ccdc162 G A 10: 41,437,203 (GRCm39) probably benign Het
Ccser2 A T 14: 36,601,518 (GRCm39) S842T possibly damaging Het
Cd300a A G 11: 114,784,139 (GRCm39) E49G possibly damaging Het
D630045J12Rik T A 6: 38,145,106 (GRCm39) I1307F probably damaging Het
Dapk1 T C 13: 60,867,564 (GRCm39) V257A possibly damaging Het
Dnah3 T A 7: 119,550,338 (GRCm39) N3327I probably damaging Het
Gja8 C T 3: 96,826,469 (GRCm39) V398I probably benign Het
Hfm1 A T 5: 107,022,148 (GRCm39) L179* probably null Het
Hsd3b9 A G 3: 98,357,872 (GRCm39) probably benign Het
Ift88 T C 14: 57,726,375 (GRCm39) Y678H probably damaging Het
Itga10 A G 3: 96,560,165 (GRCm39) N560D probably damaging Het
Itpk1 G T 12: 102,545,389 (GRCm39) P238Q probably damaging Het
Kl T C 5: 150,876,806 (GRCm39) W209R probably damaging Het
Lama4 A G 10: 38,954,828 (GRCm39) N1127S probably benign Het
Lrp1 C T 10: 127,423,982 (GRCm39) C830Y probably damaging Het
Mcmbp G A 7: 128,299,738 (GRCm39) probably benign Het
Mrps33 A G 6: 39,782,438 (GRCm39) S28P probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Myt1 C T 2: 181,467,803 (GRCm39) T1079M possibly damaging Het
N4bp1 A T 8: 87,588,424 (GRCm39) Y171* probably null Het
Ncln G T 10: 81,324,272 (GRCm39) T442K probably benign Het
Nphp4 T C 4: 152,602,596 (GRCm39) V390A probably damaging Het
Ntrk2 C A 13: 59,208,098 (GRCm39) T648K probably damaging Het
Nwd1 A G 8: 73,393,640 (GRCm39) H301R probably damaging Het
Or4k5 A T 14: 50,385,893 (GRCm39) V146E probably benign Het
Pcdh12 T C 18: 38,415,443 (GRCm39) N561D probably damaging Het
Pcnx1 T A 12: 82,041,769 (GRCm39) S2134T probably damaging Het
Ppp1cc G A 5: 122,312,151 (GRCm39) A306T probably benign Het
Pramel3e G T X: 134,400,297 (GRCm39) A96S possibly damaging Het
Prrc2c C T 1: 162,533,696 (GRCm39) probably benign Het
Rabggta C T 14: 55,956,747 (GRCm39) R319H probably benign Het
Scn10a A C 9: 119,467,767 (GRCm39) F791C possibly damaging Het
Stab1 T A 14: 30,883,756 (GRCm39) D267V probably damaging Het
Sva A T 6: 42,019,596 (GRCm39) Y152F possibly damaging Het
Tgfbrap1 T G 1: 43,114,789 (GRCm39) M104L probably damaging Het
Tmed4 T C 11: 6,221,728 (GRCm39) T203A probably benign Het
Toe1 C T 4: 116,662,177 (GRCm39) A331T possibly damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm7 T C 2: 126,700,329 (GRCm39) probably benign Het
Ttll7 C T 3: 146,636,170 (GRCm39) R438* probably null Het
Usp11 G T X: 20,584,031 (GRCm39) G601W probably damaging Het
Vmn2r112 A G 17: 22,833,984 (GRCm39) T551A possibly damaging Het
Vmn2r73 T C 7: 85,520,871 (GRCm39) K366E probably benign Het
Vps33a A G 5: 123,707,634 (GRCm39) I111T possibly damaging Het
Other mutations in Colec11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01678:Colec11 APN 12 28,644,867 (GRCm39) missense probably damaging 1.00
IGL01990:Colec11 APN 12 28,644,985 (GRCm39) missense probably benign 0.30
Philatelist UTSW 12 28,645,241 (GRCm39) critical splice donor site probably null
R0759:Colec11 UTSW 12 28,644,730 (GRCm39) missense probably damaging 1.00
R1796:Colec11 UTSW 12 28,644,858 (GRCm39) missense probably damaging 1.00
R2086:Colec11 UTSW 12 28,644,786 (GRCm39) missense probably damaging 0.99
R3624:Colec11 UTSW 12 28,644,907 (GRCm39) missense probably benign 0.00
R4078:Colec11 UTSW 12 28,645,246 (GRCm39) missense possibly damaging 0.75
R5680:Colec11 UTSW 12 28,644,730 (GRCm39) missense probably damaging 1.00
R6768:Colec11 UTSW 12 28,645,100 (GRCm39) splice site probably null
R7296:Colec11 UTSW 12 28,644,714 (GRCm39) missense probably damaging 1.00
R7758:Colec11 UTSW 12 28,645,241 (GRCm39) critical splice donor site probably null
R7899:Colec11 UTSW 12 28,645,281 (GRCm39) missense probably damaging 1.00
R8384:Colec11 UTSW 12 28,644,658 (GRCm39) makesense probably null
R9178:Colec11 UTSW 12 28,644,854 (GRCm39) missense possibly damaging 0.95
R9500:Colec11 UTSW 12 28,645,302 (GRCm39) missense probably damaging 0.99
R9679:Colec11 UTSW 12 28,644,829 (GRCm39) missense probably benign 0.43
RF019:Colec11 UTSW 12 28,662,882 (GRCm39) missense probably benign 0.29
Z1176:Colec11 UTSW 12 28,645,283 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ACAGTTTCTTGGCTGGAAAGAG -3'
(R):5'- TCTGATCAGAGCCTGTCACTG -3'

Sequencing Primer
(F):5'- AATGTCATGGAACCTTGGTCTCCTAG -3'
(R):5'- ATCAGAGCCTGTCACTGTTTATG -3'
Posted On 2014-12-29