Incidental Mutation 'R3796:Clec14a'
ID 272772
Institutional Source Beutler Lab
Gene Symbol Clec14a
Ensembl Gene ENSMUSG00000045930
Gene Name C-type lectin domain family 14, member a
Synonyms 1200003C23Rik
MMRRC Submission 040757-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R3796 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 58311506-58316044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58314695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 309 (A309V)
Ref Sequence ENSEMBL: ENSMUSP00000054451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062254]
AlphaFold Q8VCP9
Predicted Effect probably benign
Transcript: ENSMUST00000062254
AA Change: A309V

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054451
Gene: ENSMUSG00000045930
AA Change: A309V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CLECT 31 172 1.4e-5 SMART
EGF 246 288 1.85e0 SMART
transmembrane domain 388 410 N/A INTRINSIC
Meta Mutation Damage Score 0.0756 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
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. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]
PHENOTYPE: No notable pheontype was detected in a high-throughput screen of homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,489,662 (GRCm39) probably null Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Alppl2 A G 1: 87,016,076 (GRCm39) probably null Het
Armh3 A G 19: 45,910,049 (GRCm39) probably benign Het
Basp1 C A 15: 25,364,398 (GRCm39) probably benign Het
Clk2 A G 3: 89,082,996 (GRCm39) N424S probably benign Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Cwf19l1 A G 19: 44,103,006 (GRCm39) V403A probably damaging Het
Dnajc16 G T 4: 141,495,048 (GRCm39) D521E probably benign Het
Dnm2 T C 9: 21,416,783 (GRCm39) V772A probably benign Het
Dst G T 1: 34,220,996 (GRCm39) V2267F probably benign Het
Eif3d A G 15: 77,852,769 (GRCm39) F4S probably damaging Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Hmcn1 A G 1: 150,462,169 (GRCm39) Y5170H probably damaging Het
Kcna2 T A 3: 107,012,906 (GRCm39) L496I probably benign Het
Krt8 T C 15: 101,907,877 (GRCm39) I233V probably benign Het
Mfap1b A G 2: 121,304,386 (GRCm39) V3A probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Plbd2 A T 5: 120,630,933 (GRCm39) I224N probably damaging Het
Rab19 T C 6: 39,360,975 (GRCm39) V41A probably benign Het
Rrm1 T A 7: 102,114,910 (GRCm39) probably null Het
Sacs T C 14: 61,443,570 (GRCm39) V1872A possibly damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Shprh C T 10: 11,054,501 (GRCm39) L1037F possibly damaging Het
Slc24a3 A G 2: 145,458,601 (GRCm39) D527G probably damaging Het
Slc27a6 T C 18: 58,731,823 (GRCm39) probably benign Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Slc5a1 A G 5: 33,309,996 (GRCm39) D408G probably damaging Het
Spag6l A T 16: 16,580,916 (GRCm39) I477N probably damaging Het
Srgap1 A G 10: 121,883,037 (GRCm39) V21A probably benign Het
Trim7 A G 11: 48,736,497 (GRCm39) probably null Het
Trpa1 T C 1: 14,963,488 (GRCm39) N578S possibly damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zfp518a G T 19: 40,903,754 (GRCm39) V1228F probably damaging Het
Other mutations in Clec14a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Clec14a APN 12 58,315,104 (GRCm39) missense probably damaging 1.00
IGL02109:Clec14a APN 12 58,314,934 (GRCm39) missense probably benign 0.00
IGL02121:Clec14a APN 12 58,315,223 (GRCm39) missense probably damaging 1.00
IGL02136:Clec14a APN 12 58,315,415 (GRCm39) missense probably damaging 1.00
IGL02818:Clec14a APN 12 58,314,888 (GRCm39) missense probably damaging 1.00
R0379:Clec14a UTSW 12 58,315,580 (GRCm39) missense possibly damaging 0.90
R0382:Clec14a UTSW 12 58,315,403 (GRCm39) missense probably damaging 1.00
R0419:Clec14a UTSW 12 58,314,451 (GRCm39) missense probably damaging 0.97
R2972:Clec14a UTSW 12 58,314,360 (GRCm39) missense probably damaging 1.00
R3797:Clec14a UTSW 12 58,314,695 (GRCm39) missense probably benign 0.34
R3876:Clec14a UTSW 12 58,315,430 (GRCm39) missense possibly damaging 0.79
R4602:Clec14a UTSW 12 58,314,767 (GRCm39) missense probably benign 0.03
R4708:Clec14a UTSW 12 58,314,489 (GRCm39) missense probably benign 0.00
R4994:Clec14a UTSW 12 58,315,070 (GRCm39) missense probably damaging 1.00
R5193:Clec14a UTSW 12 58,315,400 (GRCm39) missense probably damaging 1.00
R5489:Clec14a UTSW 12 58,315,035 (GRCm39) missense probably damaging 1.00
R5671:Clec14a UTSW 12 58,314,612 (GRCm39) missense probably benign 0.05
R6318:Clec14a UTSW 12 58,315,001 (GRCm39) missense probably damaging 1.00
R6388:Clec14a UTSW 12 58,314,243 (GRCm39) makesense probably null
R6828:Clec14a UTSW 12 58,315,290 (GRCm39) missense probably damaging 1.00
R7065:Clec14a UTSW 12 58,315,580 (GRCm39) missense possibly damaging 0.90
R7418:Clec14a UTSW 12 58,315,433 (GRCm39) missense probably damaging 0.99
R7635:Clec14a UTSW 12 58,315,314 (GRCm39) missense probably damaging 1.00
R7666:Clec14a UTSW 12 58,314,543 (GRCm39) missense probably benign 0.05
R7908:Clec14a UTSW 12 58,314,465 (GRCm39) missense possibly damaging 0.63
R8844:Clec14a UTSW 12 58,315,599 (GRCm39) missense possibly damaging 0.59
R9294:Clec14a UTSW 12 58,315,536 (GRCm39) missense probably damaging 1.00
R9477:Clec14a UTSW 12 58,314,620 (GRCm39) missense probably benign 0.01
R9711:Clec14a UTSW 12 58,314,432 (GRCm39) missense probably damaging 0.97
X0024:Clec14a UTSW 12 58,315,112 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTGTAGTTCAGGACCACGC -3'
(R):5'- CTGCATCCAGGAAGAGACAAGC -3'

Sequencing Primer
(F):5'- ACCACGCTTCCTGATGGTGTG -3'
(R):5'- ACACTGGGACGGGCTTTTC -3'
Posted On 2015-03-25